Bioportal mappings to BRENDA tissue / enzyme source (BTO) verunknown
Bioportal mappings to Cell type (CL) verunknown
Bioportal mappings to Chemical entities of biological interest (CHEBI) verunknown
Bioportal mappings to Drosophila gross anatomy (FBbt) ver2011-02-10
Bioportal mappings to Foundational Model of Anatomy (FMA) ver3.1
Bioportal mappings to Gene Ontology (GO) ver1.886
Bioportal mappings to Human disease (DOID) ver
Bioportal mappings to International Classification of Diseases (ICD-9) ver9
Bioportal mappings to MGED Ontology (MO) ver1.3.1.1
Bioportal mappings to Malaria Ontology (IDOMAL) ver1.22
Bioportal mappings to Mammalian phenotype (MP) vernull
Bioportal mappings to Medical Subject Headings (MSH) ver2011_2010_08_30
Bioportal mappings to Microarray experimental conditions (MO) ver1.3.1.1
Bioportal mappings to Minimal anatomical terminology (MAT) ver1.1
Bioportal mappings to Mosquito gross anatomy (TGMA) version unknown
Bioportal mappings to NCBI organismal classification (NCBITaxon) ver1.2
Bioportal mappings to NCI Thesaurus (NCIt) ver11.01e
Bioportal mappings to NIFSTD (nif) ver2.2 - December 20, 2010
Bioportal mappings to Ontology for Biomedical Investigations (OBI) ver2010-10-26 Vancouver 2010 release, RC2
Bioportal mappings to Phenotypic quality (PATO) vernull
Bioportal mappings to SNOMED Clinical Terms (SNOMEDCT) ver2010_07_31
Bioportal mappings to Teleost Anatomy Ontology (TAO) vernull
Bioportal mappings to Teleost anatomy and development (TAO) ver1.158
Bioportal mappings to Units of measurement (UO) vernull
Bioportal mappings to Zebrafish anatomy and development (ZFA) verunknown
Mappings: CRISP Thesaurus Version 2.5.2.0
Mappings:The Arabidopsis Information Resource (TAIR)
FMA has terms like 'set of X'. In general we do not include set-of terms in uberon, but provide a mapping between the singular form and the FMA set term
A is spatially_disjoint_from B if they have no parts in common.
Class: <http://www.w3.org/2002/07/owl#Nothing> EquivalentTo: (BFO_0000050 some ?X) and (BFO_0000050 some ?Y)
S present_in_taxon T if some instance of T has some S. This does not means that all instances of T have an S - it may only be certain life stages or sexes that have S
A definition citation is a document, ontology class, person or organization from which the definition of the class is derived. It is used in the same sense as a citation in literature, in that the definition may have been derived from these sources or that this definition is related to these source.
x rhombomere_number N if and only if (i) x is a rhombomere, and (ii) x is rhombomere number N in a series of rhombomeres repeated along an anterior-posterior axis, with rhombomere_number 1 being the anteriormost rhombomere.
An alternate textual definition for a class taken unmodified from an external source. This definition may have been used to derive a generalized definition for the new class.
This annotation property may be replaced with an annotation property from an external ontology such as IAO
Class: <http://www.w3.org/2002/07/owl#Nothing> EquivalentTo: ?X and (RO_0002162 some ?Y)
S never_in_taxon T iff: S SubClassOf in_taxon only not T
Used to connect a class to an adjectival form of its label. For example, a class with label 'intestine' may have a relational adjective 'intestinal'.
A property used in conjunction with repeated_element_number to indicate an axis and directionality along that axis. If P preceding_element_is R, and P is_count_of S, and X P N, and X' P N+1, then it follows that every X R some X', and the class expression [S and R some X' and inv(R) some X] is empty (i.e. X is followed by X', with no intermediates)
An alternate comment for a class taken unmodified from an external source. Note that obo format only allows a single comment for a class, and does not provide a structured means of adding provenance info.
A textual description of an axiom loss in this ontology compared to an external ontology.
Notes on the homology status of this class.
S dubious_for_taxon T if it is probably the case that no instances of S can be found in any instance of T.
this relation lacks a strong logical interpretation, but can be used in place of never_in_taxon where it is desirable to state that the definition of the class is too strict for the taxon under consideration, but placing a never_in_taxon link would result in a chain of inconsistencies that will take time to resolve. Example: metencephalon in teleost
A relation between a continuant C and a role R. The reciprocal relation of role_of.
Relation between a realizable entity and a process. Reciprocal relation of realizes
Relation between a process and a material fulfilling a role (i.e. realizing a role within the context of the process). For example a human realizing role of teacher within a lesson teching process.
A relation between an entity and a dependent continuant; the reciprocal relation of inheres_in [GOC:cjm] example of usage: red eye bearer_of redness
Relation to flag that an EFO class qualifies as an Atlas validation type
Containment obtains in each case between material and immaterial continuants, for instance: lung contained_in thoracic cavity; bladder contained_in pelvic cavity. Hence containment is not a transitive relation. If c part_of c1 at t then we have also, by our definition and by the axioms of mereology applied to spatial regions, c located_in c1 at t. Thus, many examples of instance-level location relations for continuants are in fact cases of instance-level parthood. For material continuants location and parthood coincide. Containment is location not involving parthood, and arises only where some immaterial continuant is involved. To understand this relation, we first define overlap for continuants as follows: c1 overlap c2 at t =def for some c, c part_of c1 at t and c part_of c2 at t.
Derivation as a relation between instances. The temporal relation of derivation is more complex. Transformation, on the instance level, is just the relation of identity: each adult is identical to some child existing at some earlier time. Derivation on the instance-level is a relation holding between non-identicals. More precisely, it holds between distinct material continuants when one succeeds the other across a temporal divide in such a way that at least a biologically significant portion of the matter of the earlier continuant is inherited by the later. Thus we will have axioms to the effect that from c derives_from c1 we can infer that c and c1 are not identical and that there is some instant of time t such that c1 exists only prior to and c only subsequent to t. We will also be able to infer that the spatial region occupied by c as it begins to exist at t overlaps with the spatial region occupied by c1 as it ceases to exist in the same instant.
Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the A continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time.
For continuants: C part_of C' if and only if: given any c that instantiates C at a time t, there is some c' such that c' instantiates C' at time t, and c *part_of* c' at t. For processes: P part_of P' if and only if: given any p that instantiates P at a time t, there is some p' such that p' instantiates P' at time t, and p *part_of* p' at t. (Here *part_of* is the instance-level part-relation.)
Participates in is a primitive instance-level relation between a continuant and a process in which it participates. For example a scanner participates in a scanning process at some specific time.
blood serum
The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting.
cell culture
Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains.
cell suspension culture
Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself.
culture condition:dark-grown cell
renal cell carcinoma cell line
melanoma cell line
saliva
A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches.
left ventricle
The ventricles are the two lower chambers of the heart. The left ventricle is the chamber that receives blood from the left atrium and pumps it out under high pressure to the body via the aorta.
right ventricle
The lower right chamber of the heart that receives deoxygenated blood from the right atrium and pumps it under low pressure into the lungs via the pulmonary artery.
bursa of Fabricius
A lymphoid organ that opens into the cloaca of birds and functions in B-cell production.
stationary phase culture
A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die.
logarithmic phase culture
A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes.
"Human Mammary Epithelial Cells (HMEpC) are derived from normal adult mammary glands." [Cell Applications Inc.:http\://cellapplications.com/]
"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene." [PMID:15827326]
culture supernatant
The clear fluid above a sediment or precipitate of a cell culture.
"Rat brain-derived type-2 astrocyte cell line." [PMID:14575868]
juvenile leaf
Distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. The first juvenile leaves are e.g. the embryonic leaves found in the grass kernel (caryopsis).
"A differentiating cell line, established from the mouse myoblastic cell line C2C12." [PMID:9227903]
"A non-differentiating cell line, established from the mouse myoblastic cell line C2C12." [PMID:9227903]
1-CYCLOPROPYL-6-FLUORO-4-OXO-7-PIPERAZIN-1-YL-1,4-DIHYDROQUINOLINE-3-CARBOXYLIC ACID
1-Cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-yl-1,4-dihydro-quinoline-3-carboxylic acid
1-Cyclopropyl-6-fluoro-7-(4-methyl-piperazin-1-yl)-4-oxo-1,4-dihydro-quinoline-3-carboxylic acid
1-cyclopropyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid
1-cyclopropyl-6-fluoro-4-oxo-7-(piperazin-1-yl)-1,4-dihydroquinoline-3-carboxylic acid
1-cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-ylquinoline-3-carboxylic acid
1-cyclopropyl-6-fluoro-7-hexahydro-1-pyrazinyl-4-oxo-1,4-dihydro-3-quinolinecarboxylic acid
ABL1 Gene[accessedResource: C17H18FN3O3][accessDate: 05-04-2011]
ABL1[accessedResource: C17H18FN3O3][accessDate: 05-04-2011]
Quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively. A second generation fluoroquinolone antibacterial, it works by interfering with the enzymes that cause DNA to rewind after being copied, so stopping DNA and protein synthesis.
This gene is involved in cell adhesion, differentiation, division and stress response.
This gene is involved in cell adhesion, differentiation, division and stress response.[accessedResource: C17H18FN3O3][accessDate: 05-04-2011]
v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene
v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene[accessedResource: C17H18FN3O3][accessDate: 05-04-2011]
1,4-Dihydro-1-ethyl-6-fluoro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid
1-Ethyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid
"A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase." []
Beilstein:567897 "Beilstein Registry Number"
KEGG COMPOUND:70458-96-7 "CAS Registry Number"
ChemIDplus:70458-96-7 "CAS Registry Number"
(Phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarine
2H-1-Benzopyran-2-one, 4-hydroxy-3-(3-oxo-1-phenylbutyl)-
(+)-cis-5-[2-(dimethylamino)ethyl]-2,3-dihydro-3-hydroxy-2-(p-methoxyphenyl)-1,5-benzothiazepin-4(5H)-one acetate ester
(2S,3S)-5-(2-(dimethylamino)ethyl)-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydrobenzo[b][1,4]thiazepin-3-yl acetate
(2S,3S)-5-[2-(dimethylamino)ethyl]-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydro-1,5-benzothiazepin-3-yl acetate
Acetic acid (2S,3S)-5-(2-dimethylamino-ethyl)-2-(4-methoxy-phenyl)-4-oxo-2,3,4,5-tetrahydro-benzo[b][1,4]thiazepin-3-yl ester
A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.
A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.[accessedResource: C13H9NO2][accessDate: 05-04-2011]
C13 Urea[accessedResource: C13H9NO2][accessDate: 05-04-2011]
Helicosol[accessedResource: C13H9NO2][accessDate: 05-04-2011]
UREA, C-13[accessedResource: C13H9NO2][accessDate: 05-04-2011]
Urea C-13[accessedResource: C13H9NO2][accessDate: 05-04-2011]
(6R,7R)-3-(acetoxymethyl)-8-oxo-7-(thiophen-2-ylacetamido)-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid
3-Acetoxymethyl-7-(2-thienylacetamido)-3-cephem-4-carboxylic acid
7-(2-Thienylacetamido)cephalosporanic acid
7beta-(thiophen-2-ylacetamido)-3-acetoxymethyl-3,4-didehydrocepham-4-carboxylic acid
3,4,3',4'-Tetra coplanar polychlorinated biphenyl
A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)
A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)[accessedResource: C12H6Cl4][accessDate: 05-04-2011]
A tetrachlorobiphenyl that has formula C12H6Cl4.
Ras (sub 5-17) Peptide (C12)[accessedResource: C12H6Cl4][accessDate: 05-04-2011]
Ras Peptide CYS[accessedResource: C12H6Cl4][accessDate: 05-04-2011]
C4[accessedResource: C4H5O3][accessDate: 05-04-2011]
Complement C4 Measurement[accessedResource: C4H5O3][accessDate: 05-04-2011]
Complement C4[accessedResource: C4H5O3][accessDate: 05-04-2011]
Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components.
The determination of the amount of complement C4 present in a sample.
The determination of the amount of complement C4 present in a sample.[accessedResource: C4H5O3][accessDate: 05-04-2011]
A selenium oxoanion that has formula O4Se.
A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice.
C2 Mouse[accessedResource: C2H4O2][accessDate: 05-04-2011]
C2[accessedResource: C2H4O2][accessDate: 05-04-2011]
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ECL)
C3 Gene[accessedResource: C3H4O][accessDate: 05-04-2011]
C3[accessedResource: C3H4O][accessDate: 05-04-2011]
Complement Component 3 Gene[accessedResource: C3H4O][accessDate: 05-04-2011]
This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.
This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H4O][accessDate: 05-04-2011]
An inorganic hydroxy compound that has formula H2O.
A homoatomic molecule that has formula O2.
An elemental molecule that has formula O2.
(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
(5Z,11alpha,13E,15S)-11,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid
(5Z,13E,15S)-11alpha,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid
(E,Z)-(1R,2R,3R)-7-(3-Hydroxy-2-((3S)-(3-hydroxy-1-octenyl))-5-oxocyclopentyl)-5-heptenoic acid
(Z)-7-((1R,2R,3R)-3-hydroxy-2-((S,E)-3-hydroxyoct-1-enyl)-5-oxocyclopentyl)hept-5-enoic acid
4-oxo-5-(2-pentenyl)-2-Cyclopentene-1-octanoic acid
8-(2-(cis-2'-Pentenyl)-3-oxo-cis-4-cyclopentenyl)octanoic acid
8-{(1S,5S)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid
An omega-3 fatty acid that has formula C18H28O3.
EFABP[accessedResource: C18H28O3][accessDate: 05-04-2011]
Epidermal Fatty Acid-Binding Protein[accessedResource: C18H28O3][accessDate: 05-04-2011]
Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)
Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H28O3][accessDate: 05-04-2011]
FABP5[accessedResource: C18H28O3][accessDate: 05-04-2011]
Fatty Acid Binding Protein 5[accessedResource: C18H28O3][accessDate: 05-04-2011]
PAFABP[accessedResource: C18H28O3][accessDate: 05-04-2011]
An indolocarbazole alkaloid that has formula C28H26N4O3.
An organic heterooctacyclic compound that has formula C28H26N4O3.
A straight-chain saturated fatty acid that has formula C16H32O2.
A straight-chain, 16-carbon saturated fatty acid and major component of the oil from palm trees; the first fatty acid produced during lipogenesis, from which longer fatty acids can be produced. Reportedly has detrimental cardiovascular effects when there is insufficient intake of linoleic acid.
A straight-chain, sixteen-carbon saturated fatty acid and major component of the oil from palm trees; the first fatty acid produced during lipogenesis, from which longer fatty acids can be produced. Reportedly has detrimental cardiovascular effects when there is insufficient intake of linoleic acid.
A straight-chain, sixteen-carbon, saturated long-chain fatty acid.
(5Z,8Z,11Z,14Z)-5,8,11,14-icosatetraenoic acid
(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoic acid
cis-Delta(5,8,11,14)-eicosatetraenoic acid
A deoxy glucose having a hydroxy group replaced by a hydrogen at position 2; an antimetabolite of glucose with antiviral activity, which acts by inhibiting the glycosylation of glycoproteins and glycolipids. Used as an antiherpes agent.
A deoxyglucose that has formula C6H12O5.
A member of the phenols that has formula C6H6O.
3-oxo-2-(2-pentenyl)cyclopentaneacetic acid methyl ester
methyl {(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetate
A chloro-1,3,5-triazine herbicide that has formula C8H14ClN5.
CP25[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI)
HHO.C8[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
HOX3C[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
HOXC6[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox Protein 3C[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox Protein C6[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox Protein C8[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox Protein CP25[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox Protein HHO.C8[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox Protein HOXC6[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox Protein Hox-3C[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox Protein Hox-C6[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.
Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H14ClN5][accessDate: 05-04-2011]
biotin
(2R)-2,3-dihydroxypropyl dihydrogen phosphate
phosphoric acid mono-((R)-2,3-dihydroxy-propyl) ester
7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase
7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase[accessedResource: C27H46O][accessDate: 05-04-2011]
A cholestanoid that has formula C27H46O.
CYP8B1[accessedResource: C27H46O][accessDate: 05-04-2011]
CYPVIIIB1[accessedResource: C27H46O][accessDate: 05-04-2011]
Cholest-5-en-3-ol (3beta)-[accessedResource: MSH:D002784][accessDate: 05-04-2011]
Cytochrome P450 8B1[accessedResource: C27H46O][accessDate: 05-04-2011]
Cytochrome P450 CYP8B1[accessedResource: C27H46O][accessDate: 05-04-2011]
Cytochrome P450 Family 8 Subfamily B Polypeptide 1
Cytochrome P450 Family 8 Subfamily B Polypeptide 1[accessedResource: C27H46O][accessDate: 05-04-2011]
Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1
Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1[accessedResource: C27H46O][accessDate: 05-04-2011]
Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)
Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)[accessedResource: C27H46O][accessDate: 05-04-2011]
Epicholesterol[accessedResource: MSH:D002784][accessDate: 05-04-2011]
Steroid 12-Alpha-Hydroxylase[accessedResource: C27H46O][accessDate: 05-04-2011]
Sterol 12 Alpha Hydroxylase[accessedResource: C27H46O][accessDate: 05-04-2011]
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.[accessedResource: MSH:D002784][accessDate: 05-04-2011]
A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in alcoholic beverages. (PubChem) Pharmacology: Alcohol produces injury to cells by dehydration and precipitation of the cytoplasm or protoplasm. This accounts for its bacteriocidal and antifungal action. When alcohol is injected in close proximity to nerve tissues, it produces neuritis and nerve degeneration (neurolysis). Ninety to 98% of ethanol that enters the body is completely oxidized. Ethanol is also used as a cosolvent to dissolve many insoluble drugs and to serve as a mild sedative in some medicinal formulations. Mechanism of action: The sedative effects of ethanol are mediated through binding to GABA receptors and glycine receptors (alpha 1 and alpha 2 subunits). In its role as an anti-infective, ethanol acts as an osmolyte or dehydrating agent that disrupts the osmotic balance across cell membranes. Drug type: Approved. Small Molecule. Drug category: Anti-Infective Agents, Local. Central Nervous System Depressants. Disinfectants. Solvents
A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in alcoholic beverages. (PubChem) Pharmacology: Alcohol produces injury to cells by dehydration and precipitation of the cytoplasm or protoplasm. This accounts for its bacteriocidal and antifungal action. When alcohol is injected in close proximity to nerve tissues, it produces neuritis and nerve degeneration (neurolysis). Ninety to 98% of ethanol that enters the body is completely oxidized. Ethanol is also used as a cosolvent to dissolve many insoluble drugs and to serve as a mild sedative in some medicinal formulations. Mechanism of action: The sedative effects of ethanol are mediated through binding to GABA receptors and glycine receptors (alpha 1 and alpha 2 subunits). In its role as an anti-infective, ethanol acts as an osmolyte or dehydrating agent that disrupts the osmotic balance across cell membranes. Drug type: Approved. Small Molecule. Drug category: Anti-Infective Agents, Local. Central Nervous System Depressants. Disinfectants. Solvents[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
A member of the ethanols that has formula C2H6O.
Absolute Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Absolute Ethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Aethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Aethylalkohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Alcare Hand Degermer[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Alcohol Anhydrous[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Alcohol, Dehydrated[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Alcohol, Diluted[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Alcool Ethylique[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Alcool Etilico[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Algrain[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Alkohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Aminoethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Anhydrol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Beta-Aminoethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Beta-Aminoethyl Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Beta-Ethanolamine[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Beta-Hydroxyethylamine[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Caswell No, 426[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Colamine[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Dehydrated Ethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Cd-10[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Cd-5[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Cd-5a[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Sd-13a[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Sd-17[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Sd-1[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Sd-23a[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Sd-28[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Sd-39b[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Sd-39c[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol Sd-3a[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Denatured Ethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
ETA[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Envision Conditioner Pdd 9020[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
EtOH[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Etanolo[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethanol 200 Proof[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethanol Absolute Bp[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethanol Absolute[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethanol Anhydrous[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethanol Extra Pure[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethanol, Silent Spirit[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethanol, Spirit[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 10%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 20%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 30%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 40%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 5%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 50%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 70%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 80%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 95%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol & Water, 96%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol Anhydrous[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol, Anhydrous[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol, Denatured[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Hydrate[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethyl Hydroxide[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethylol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Ethylolamine[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Glycinol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
HSDB 531[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Jaysol S[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Jaysol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Methylcarbinol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Pyro[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Reagent Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Synasol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Tecsol C[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Tecsol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Thanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
Thiofaco M-50[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
USAF EK-1597[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011]
An inorganic peroxide that has formula H2O2.
A pentahydroxyflavone having the five hydroxy groups placed at the 3-, 3'-, 4'-, 5- and 7-positions.
A pentahydroxyflavone that has formula C15H10O7.
C3 Gene[accessedResource: C3H5NO4][accessDate: 05-04-2011]
C3[accessedResource: C3H5NO4][accessDate: 05-04-2011]
Complement Component 3 Gene[accessedResource: C3H5NO4][accessDate: 05-04-2011]
The 3-nitro derivative of propanoic acid.
This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H5NO4][accessDate: 05-04-2011]
(3alpha,5beta,7alpha,12alpha)-3,7,12-trihydroxycholan-24-oic acid
(3alpha,5beta,7alpha,8alpha,12alpha,14beta,17alpha)-3,7,12-trihydroxycholan-24-oic acid
3alpha,7alpha,12alpha-Trihydroxy-5beta-cholanic acid
3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oic acid
A steroidal bile acid derived from cholesterol.
An aconitate(3-) that has formula C6H3O6.
Natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria).
An alpha-amino acid that has formula C3H7NO2.
2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium[accessedResource: C10H13N5O][accessDate: 05-04-2011]
Aclatonium[accessedResource: C10H13N5O][accessDate: 05-04-2011]
Choline Lactate, Acetate[accessedResource: C10H13N5O][accessDate: 05-04-2011]
Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-
Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-[accessedResource: C10H13N5O][accessDate: 05-04-2011]
7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase[accessedResource: C27H44O7][accessDate: 05-04-2011]
A 20-hydroxy steroid that has formula C27H44O7.
CYP8B1[accessedResource: C27H44O7][accessDate: 05-04-2011]
CYPVIIIB1[accessedResource: C27H44O7][accessDate: 05-04-2011]
Cytochrome P450 8B1[accessedResource: C27H44O7][accessDate: 05-04-2011]
Cytochrome P450 CYP8B1[accessedResource: C27H44O7][accessDate: 05-04-2011]
Cytochrome P450 Family 8 Subfamily B Polypeptide 1[accessedResource: C27H44O7][accessDate: 05-04-2011]
Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1[accessedResource: C27H44O7][accessDate: 05-04-2011]
Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)[accessedResource: C27H44O7][accessDate: 05-04-2011]
Steroid 12-Alpha-Hydroxylase[accessedResource: C27H44O7][accessDate: 05-04-2011]
Sterol 12 Alpha Hydroxylase[accessedResource: C27H44O7][accessDate: 05-04-2011]
C2 Mouse[accessedResource: C2HCl3][accessDate: 05-04-2011]
C2[accessedResource: C2HCl3][accessDate: 05-04-2011]
An ecdysteroid that has formula C27H44O6.
A six-carbon aromatic compound in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.
C6 Vertebra[accessedResource: C6H6][accessDate: 05-04-2011]
The sixth of the seven cervical vertebrae.
The sixth of the seven cervical vertebrae.[accessedResource: C6H6][accessDate: 05-04-2011]
A member of the cinnamaldehydes that has formula C9H8O.
The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes.
A dichlorophenol that has formula C6H4Cl2O.
C6 Vertebra[accessedResource: C6H4Cl2O][accessDate: 05-04-2011]
The sixth of the seven cervical vertebrae.[accessedResource: C6H4Cl2O][accessDate: 05-04-2011]
2,6-dihydroxypyrimidine-4-carboxylic acid
2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylic acid
A pyrimidinemonocarboxylic acid that has formula C5H4N2O4.
C5 Gene[accessedResource: C5H4N2O4][accessDate: 05-04-2011]
C5[accessedResource: C5H4N2O4][accessDate: 05-04-2011]
Complement Component 5 Gene[accessedResource: C5H4N2O4][accessDate: 05-04-2011]
Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release.
Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release.[accessedResource: C5H4N2O4][accessDate: 05-04-2011]
(1R,2R,4S,5S,7S)-9-methyl-3-oxa-9-azatricyclo[3.3.1.0(2,4)]non-7-yl (2S)-3-hydroxy-2-phenylpropanoate
(1S,3S,5R,6R,7S)-6,7-epoxytropan-3-yl (2S)-3-hydroxy-2-phenylpropanoate
6-beta,7-beta-Epoxy-3-alpha-tropanyl S-(-)-tropate
alpha-(Hydroxymethyl)benzeneacetic acid 9-methyl-3-oxa-9-azatricyclo(3.3.1.0(2.4))non-7-yl ester
alpha-amino-gamma-methylmercaptobutyric acid
17-oxoandrost-5-en-3beta-yl hydrogen sulfate
17-oxoandrost-5-en-3beta-yl hydrogen sulphate
3beta-Hydroxyandrost-5-en-17-one 3-sulfate
Androst-5-en-17-on-3beta-yl sulfuric acid
A tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine.
GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals.
GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals.[accessedResource: NIFSTD:nlx_mol_20090201][accessDate: 05-04-2011]
A derivative of glycine having methyl and amidino groups attached to the nitrogen.
A glycine derivative that has formula C4H9N3O2.
C6 Vertebra[accessedResource: C6H6O3][accessDate: 05-04-2011]
The sixth of the seven cervical vertebrae.[accessedResource: C6H6O3][accessDate: 05-04-2011]
beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosaminyl glycopeptide
1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid
2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid
2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine) (MSH).
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine) (MSH).[accessedResource: NIFSTD:sao454034570][accessDate: 05-04-2011]
DNA is a chemical compound which has a high molecular weight, linear polymers and is composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contains the genetic information of organisms.
Deoxyribonucleic acid[accessedResource: NIFSTD:sao454034570][accessDate: 05-04-2011]
High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms.
Cholesterol esterified at the 3-hydroxy group.
A 3-oxo Delta(4)-steroid that has formula C21H30O2.
A steroid hormone that has formula C21H30O2.
A N-acylglucosamine that has formula (C8H13NO5)n.
An aminoglycan that has formula (C8H13NO5)n.
A 2-oxo aldehyde that has formula C3H4O2.
C3 Gene[accessedResource: C3H4O2][accessDate: 05-04-2011]
C3[accessedResource: C3H4O2][accessDate: 05-04-2011]
Complement Component 3 Gene[accessedResource: C3H4O2][accessDate: 05-04-2011]
This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H4O2][accessDate: 05-04-2011]
2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium[accessedResource: C10H16][accessDate: 05-04-2011]
Aclatonium[accessedResource: C10H16][accessDate: 05-04-2011]
Choline Lactate, Acetate[accessedResource: C10H16][accessDate: 05-04-2011]
Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-[accessedResource: C10H16][accessDate: 05-04-2011]
1,2-benzenedicarboxylic acid, mono(2-ethylhexyl) ester
2-([(2-ethylhexyl)oxy]carbonyl)benzoic acid
A highly potent opiate analgesic psychoactive drug, morphine acts directly on the central nervous system (CNS) to relieve pain. Morphine has a high potential for addiction; tolerance and both physical and psychological dependence develop rapidly.
A morphinane alkaloid that has formula C17H19NO3.
17 beta Hydroxy 4 Androsten 3 one[accessedResource: MSH:D013739][accessDate: 05-04-2011]
17 beta Hydroxy 8 alpha 4 Androsten 3 one
17 beta Hydroxy 8 alpha 4 Androsten 3 one[accessedResource: MSH:D013739][accessDate: 05-04-2011]
17-beta-Hydroxy-4-Androsten-3-one[accessedResource: MSH:D013739][accessDate: 05-04-2011]
17-beta-Hydroxy-8 alpha-4-Androsten-3-one
17-beta-Hydroxy-8 alpha-4-Androsten-3-one[accessedResource: MSH:D013739][accessDate: 05-04-2011]
8 Isotestosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
8-Isotestosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL.
A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL.[accessedResource: MSH:D013739][accessDate: 05-04-2011]
An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.
AndroGel[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Androderm[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Andropatch[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Androst-4-en-17beta-ol-3-one[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Androtop[accessedResource: MSH:D013739][accessDate: 05-04-2011]
AstraZeneca Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Auxilium Pharmaceuticals Inc. Brand of Testosterone
Auxilium Pharmaceuticals Inc. Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Bartor Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
CEPA Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Dr. Kade Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Faulding Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Ferring Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
GlaxoSmithKline Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Hauck Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Histerone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Ortho Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Paladin Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Pasadena Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Schering Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
SmithKline Beecham Brand of Testosterone
SmithKline Beecham Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Solvay Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Sterotate[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Sustanon[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Testim[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Testoderm[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Testolin[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Testopel[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Testosterone Sulfate[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Ulmer Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Unimed Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation.
Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation.[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Watson Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011]
Beilstein:2807677 "Beilstein Registry Number"
KEGG COMPOUND:53-96-3 "CAS Registry Number"
ChemIDplus:53-96-3 "CAS Registry Number"
NIST Chemistry WebBook:53-96-3 "CAS Registry Number"
"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2." []
Wikipedia:2-Acetylaminofluorene "Wikipedia"
A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability.
A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability.[accessedResource: C9H7N][accessDate: 05-04-2011]
Activation of Membrane Attack Complex[accessedResource: C9H7N][accessDate: 05-04-2011]
An analog of paclitaxel with antineoplastic activity. 10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis.
The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring.
benzenepropanoic acid, beta-(benzoylamino)-alpha-hydroxy-, 12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester, (2aR-(2aalpha,4beta,4abeta,6beta,9alpha(alphaR*,betaS*),11alpha,12alpha,12aalpha,12balpha))-
(2R,4aR,6R,7R,7aS)-6-(6-amino-9H-purin-9-yl)tetrahydro-4H-furo[3,2-d][1,3,2]dioxaphosphinine-2,7-diol 2-oxide
3',5'-cyclic purine nucleotide having having adenine as the nucleobase.
A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P.
A nitrogen oxoanion that has formula NO3.
Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the "stress hormone" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses
A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and an alcohol function.
A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions.
1,2-Benzenedicarboxylic acid bis(2-ethylhexyl) ester
A phthalate ester that has formula C24H38O4.
The bis(2-ethylhexyl) ester of 1,2-benzenedicarboxylic acid.
The bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid.
bis(2-ethylhexyl) 1,2-benzenedicarboxylate
bis(2-ethylhexyl) benzene-1,2-dicarboxylate
The simplest aliphatic alcohol, comprising a methyl and an alcohol group.
1alpha,25-dihydroxyvitamin D3; 1,25-dihydroxyvitamin D3; 1,25(OH)2D3
7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase[accessedResource: C27H44O3][accessDate: 05-04-2011]
A hydroxycalciol that has formula C27H44O3.
CYP8B1[accessedResource: C27H44O3][accessDate: 05-04-2011]
CYPVIIIB1[accessedResource: C27H44O3][accessDate: 05-04-2011]
Cytochrome P450 8B1[accessedResource: C27H44O3][accessDate: 05-04-2011]
Cytochrome P450 CYP8B1[accessedResource: C27H44O3][accessDate: 05-04-2011]
Cytochrome P450 Family 8 Subfamily B Polypeptide 1[accessedResource: C27H44O3][accessDate: 05-04-2011]
Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1[accessedResource: C27H44O3][accessDate: 05-04-2011]
Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)[accessedResource: C27H44O3][accessDate: 05-04-2011]
Steroid 12-Alpha-Hydroxylase[accessedResource: C27H44O3][accessDate: 05-04-2011]
Sterol 12 Alpha Hydroxylase[accessedResource: C27H44O3][accessDate: 05-04-2011]
(1R,2S,3S,4R,6S)-4,6-diamino-3-{[3-deoxy-4-C-methyl-3-(methylamino)-beta-L-arabinopyranosyl]oxy}-2-hydroxycyclohexyl (6x)-2-amino-2,3,4,6,7-pentadeoxy-6-(methylamino)-alpha-D-erythro-heptopyranoside
4,6-diamino-3-[3-deoxy-4-C-methyl-3-(methylamino)pentopyranosyloxy]-2-hydroxycyclohexyl 2-amino-2,3,4,6,7-pentadeoxy-6-(methylamino)heptopyranoside
Any of a group of aminoglycoside antibiotics produced by fermentation of some Micromonospora spp.
C21[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
DC42[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
FLJ12894[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.
Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
IRA1[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
TBL1XR1 wt Allele[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
TBLR1[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele
Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
Transducin (Beta)-Like 1X-Linked Receptor 1 Gene
Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H43N5O7][accessDate: 05-04-2011]
A diatomic molecule containing covalently bonded hydrogen and chlorine atoms.
A D-glucopyranose that has formula C6H12O6.
(2S)-2-amino-5-(N',N'-dimethylcarbamimidamido)pentanoic acid
(2S)-2-amino-5-{[(dimethylamino)(imino)methyl]amino}pentanoic acid
A methyl-L-arginine having two methyl groups both attached to the primary amino moiety of the guanidino group.
A methyl-L-arginine that has formula C8H18N4O2.
CP25[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
HHO.C8[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
HOX3C[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
HOXC6[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox Protein 3C[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox Protein C6[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox Protein C8[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox Protein CP25[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox Protein HHO.C8[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox Protein HOXC6[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox Protein Hox-3C[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox Protein Hox-C6[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H18N4O2][accessDate: 05-04-2011]
A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.
A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H29N7O5][accessDate: 05-04-2011]
An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome.
Brassidic Acid[accessedResource: C22H29N7O5][accessDate: 05-04-2011]
C22:1, n-9 trans[accessedResource: C22H29N7O5][accessDate: 05-04-2011]
Fatty Acid 22:1 n-9 trans[accessedResource: C22H29N7O5][accessDate: 05-04-2011]
Fatty Acid trans 22:1 n-9[accessedResource: C22H29N7O5][accessDate: 05-04-2011]
Trans docos-13-enoic Acid[accessedResource: C22H29N7O5][accessDate: 05-04-2011]
A glycosyl glycoside that has formula C12H22O11.
beta-D-fructofuranosyl alpha-D-glucopyranoside
A alpha-amino acid consisting of cyclopropane having amino and carboxy substituents both at the 1-position.
An alpha-amino acid that has formula C4H7NO2.
C4[accessedResource: C4H7NO2][accessDate: 05-04-2011]
Complement C4 Measurement[accessedResource: C4H7NO2][accessDate: 05-04-2011]
Complement C4[accessedResource: C4H7NO2][accessDate: 05-04-2011]
The determination of the amount of complement C4 present in a sample.[accessedResource: C4H7NO2][accessDate: 05-04-2011]
'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.
A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)
A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)[accessedResource: MSH:D008055][accessDate: 05-04-2011]
Lipids[accessedResource: MSH:D008055][accessDate: 05-04-2011]
An alpha-tocopherol that has formula C29H50O2.
2-Amino-3-(p-hydroxyphenyl)propionic acid
2-amino-3-(4-hydroxyphenyl)propanoic acid
(2S,5R,6R)-3,3-dimethyl-7-oxo-6-(phenylacetamido)-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
2,2-dimethyl-6beta-(phenylacetamido)penam-3alpha-carboxylic acid
A selenium oxoanion that has formula O3Se.
A member of the isoflavones that has formula C15H10O2.
An isoflavone that has formula C15H10O2.
An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient.
An iron group element atom that has formula Fe.
An iron group element that has formula Fe.
(1R,2R)-3-oxo-2-(2Z)-2-penten-ylcyclopentanacetic acid
(1R,2R)-3-oxo-2-(pent-2Z-enyl)-cyclopentaneacetic acid
An oxo monocarboxylic acid that has formula C12H18O3.
{(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetic acid
The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol.
5'-Phospho-ribosyl-5-amino-4-imidazole carboxamide
A pyrrolidine alkaloid that has formula C10H14N2.
A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5.
N-Methyl-N',2-dioxohydrazinecarboximidohydrazide 2-oxide
(2Z,4E)-5-(1-hydroxy-2,6,6-trimethyl-4-oxocyclohex-2-en-1-yl)-3-methylpenta-2,4-dienoic acid
An apo carotenoid sesquiterpenoid that has formula C15H20O4.
Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases.
Substance produced by, and obtained from, certain living cells (especially bacteria, yeasts and moulds), or an equivalent synthetic substance, which is biostatic or biocidal at low concentrations to some other form of life, especially pathogenic or noxious organisms.
(2R,3S,6S,7R,8R)-3-[(3-formamido-2-hydroxybenzoyl)amino]-8-hexyl-2,6-dimethyl-4,9-dioxo-1,5-dioxonan-7-yl 3-methylbutanoate
A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison.
A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides.
Any of a group of compounds, both naturally occurring and synthetic, that regulate aspects of plant growth (from Greek alphaupsilonxialphanuomega, "to grow").
An insecticide compound naturally occurring in plants.
A zinc group element atom that has formula Cd.
A carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position.
A carbotricyclic compound that has formula C22H25NO6.
3'-phosphoadenosine 5'-{3-[(3R)-3-hydroxy-2,2-dimethyl-4-oxo-4-{[3-oxo-3-({2-[(3,4,4-trimethylhepta-2,5-dien-1-yl)sulfanyl]ethyl}amino)propyl]amino}butyl]dihydrogen diphosphate}
(2Z,4E)-5-[(1S)-1-hydroxy-2,6,6-trimethyl-4-oxocyclohex-2-en-1-yl]-3-methylpenta-2,4-dienoic acid
(7E,9Z)-(6S)-6-hydroxy-3-oxo-11-apo-epsilon-caroten-11-oic acid
An abscisic acid that has formula C15H20O4.
The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold.
Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.
A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.
A steroid hormone that has formula C18H24O2.
A urea compound having ethyl and nitroso substituents in the 1-position.
A substance used to destroy fungal pests.
A role played by the molecular entity or part thereof within a biological context.
A 2-aminopurine that has formula C8H11N5O3.
An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function.
A weak, unstable acid with formula HOCl, which is the active form of chlorine in water.
A substance used to destroy pests of the class Insecta.
A carbon group element atom that has formula Pb.
A carbon group element that has formula Pb.
ABL1 Gene[accessedResource: C17H12O6][accessDate: 05-04-2011]
ABL1[accessedResource: C17H12O6][accessDate: 05-04-2011]
This gene is involved in cell adhesion, differentiation, division and stress response.[accessedResource: C17H12O6][accessDate: 05-04-2011]
v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene[accessedResource: C17H12O6][accessDate: 05-04-2011]
Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins.
A polysaccharide that has formula (C12H18O9)n.
Any intermediate or product resulting from metabolism.
A methanesulfonate ester that has formula C2H6O3S.
mitochondrial respiratory-chain inhibitor
mitochondrial electron transport chain inhibitors
mitochondrial electron-transport chain inhibitor
mitochondrial respiratory chain inhibitors
An ethyl sulfide that has formula C4H8Cl2S.
An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution.
11-Eicosenoic Acid[accessedResource: C20H16][accessDate: 05-04-2011]
A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.
A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H16][accessDate: 05-04-2011]
A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke.
C20:1 n-9 cis[accessedResource: C20H16][accessDate: 05-04-2011]
Cis-icos-11-enoic[accessedResource: C20H16][accessDate: 05-04-2011]
Fatty Acid 20:1 n-9[accessedResource: C20H16][accessDate: 05-04-2011]
Gondoic Acid[accessedResource: C20H16][accessDate: 05-04-2011]
A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase.
(1E)-2-methyl-2-(methylthio)propanal O-[(methylamino)carbonyl]oxime
2-Methyl-2-(methylthio)propanal, O-((methylamino)carbonyl)oxime
2-Methyl-2-(methylthio)propionaldehyde O-(methylcarbamoyl)oxime
C7[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
CRG-2[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
CXCL10 wt Allele[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
Chemokine (C-X-C Motif) Ligand 10 wt Allele
Chemokine (C-X-C Motif) Ligand 10 wt Allele[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression.
Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression.[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
IFI10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
INP10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
IP-10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
MOB-1[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
SCYB10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active.
gIP-10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011]
(4-Amino-1-hydroxybutylidene)bisphosphonic acid
(4-amino-1-hydroxybutane-1,1-diyl)bis(phosphonic acid)
Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom.
A pigment cell is a cell that contains pigment granules.
A pigment cell is a cell that contains pigment granules.[accessedResource: CL:0000147][accessDate: 05-04-2011]
An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light.
chromatocyte[accessedResource: CL:0000147][accessDate: 05-04-2011]
chromatophore[accessedResource: ZFA:0009090][accessDate: 05-04-2011]
pigment cell[accessedResource: ZFA:0009090][accessDate: 05-04-2011]
pigment cells[accessedResource: MAT:0000159][accessDate: 05-04-2011]
A chemical, natural or artificial, that can affect the rate of growth of a plant.
1-N-(L(-)-gamma-amino-alpha-hydroxybutyryl)kanamycin A
An alpha-D-glucoside that has formula C22H43N5O13.
3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
2-Butyl-3-benzofuranyl 4-(2-(diethylamino)ethoxy)-3,5-diiodophenyl ketone
A tricyclic antidepressant that has formula C20H23N.
Beilstein:4289807 "Beilstein Registry Number"
ChemIDplus:361-09-1 "CAS Registry Number"
"A cholate salt that has formula C24H39NaO5." []
(2S,5R,6R)-6-{[(2R)-2-amino-2-(4-hydroxyphenyl)acetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
6-(p-hydroxy-alpha-aminophenylacetamido)penicillanic acid
6beta-[(2R)-2-amino-2-(4-hydroxyphenyl)acetamido]-2,2-dimethylpenam-3alpha-carboxylic acid
A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group.
A penicillin that has formula C16H19N3O5S.
Gonadal Steroid Hormones[accessedResource: MSH:D012739][accessDate: 05-04-2011]
Hormones, Gonadal Steroid[accessedResource: MSH:D012739][accessDate: 05-04-2011]
Hormones, Sex Steroid[accessedResource: MSH:D012739][accessDate: 05-04-2011]
Sex Hormones[accessedResource: MSH:D012739][accessDate: 05-04-2011]
Sex Steroid Hormones[accessedResource: MSH:D012739][accessDate: 05-04-2011]
Steroid Hormones, Gonadal[accessedResource: MSH:D012739][accessDate: 05-04-2011]
Steroid Hormones, Sex[accessedResource: MSH:D012739][accessDate: 05-04-2011]
Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE.
Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE.[accessedResource: MSH:D012739][accessDate: 05-04-2011]
A macrolide antibiotic used to treat potentially life-threatening fungal infections.
Poisonous substance produced by a biological organism such as a microbe, animal or plant.
A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position.
Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body.
A zinc group element atom that has formula Zn.
A zinc group element that has formula Zn.
N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
A mitomycin that has formula C15H18N4O5.
A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04)
C15[accessedResource: C15H18N4O5][accessDate: 05-04-2011]
Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.
Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H18N4O5][accessDate: 05-04-2011]
Onzin[accessedResource: C15H18N4O5][accessDate: 05-04-2011]
PLAC8 wt Allele[accessedResource: C15H18N4O5][accessDate: 05-04-2011]
Placenta-Specific 8 wt Allele[accessedResource: C15H18N4O5][accessDate: 05-04-2011]
[(1aS,8S,8aR,8bS)-6-amino-8a-methoxy-5-methyl-4,7-dioxo-1,1a,2,4,7,8,8a,8b-octahydroazireno[2',3':3,4]pyrrolo[1,2-a]indol-8-yl]methyl carbamate
[(1aS,8S,8aR,8bS)-6-amino-8a-methoxy-5-methyl-4,7-dioxo-1,1a,2,4,7,8,8a,8b-octahydroazirino[2',3':3,4]pyrrolo[1,2-a]indol-8-yl]methyl carbamate
A carbon group element atom that has formula Si.
A carbon group element that has formula Si.
A 18-oxo steroid that has formula C21H28O5.
A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney.
A carbon group element atom that has formula C.
(2S,3R,4S)-4-[(2S,5R,7S,8R,9S)-2-{(2S,2'R,3'S,5R,5'R)-2-ethyl-5'-[(2S,3S,5R,6R)-6-hydroxy-6-(hydroxymethyl)-3,5-dimethyltetrahydro-2H-pyran-2-yl]-3'-methyloctahydro-2,2'-bifuran-5-yl}-9-hydroxy-2,8-dimethyl-1,6-dioxaspiro[4.5]dec-7-yl]-3-methoxy-2-methylpentanoic acid
A piperidine antibiotic that has formula C15H23NO4.
C15[accessedResource: C15H23NO4][accessDate: 05-04-2011]
Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H23NO4][accessDate: 05-04-2011]
Onzin[accessedResource: C15H23NO4][accessDate: 05-04-2011]
PLAC8 wt Allele[accessedResource: C15H23NO4][accessDate: 05-04-2011]
Placenta-Specific 8 wt Allele[accessedResource: C15H23NO4][accessDate: 05-04-2011]
21,22-Secocamptothecin-21-oic acid lactone
A pyranoindolizinoquinoline that has formula C20H16N2O4.
An actinomycin that has formula C62H86N12O16.
A vanadium group element atom that has formula V.
A vanadium group element that has formula V.
A trimethylxanthine that has formula C8H10N4O2.
A phosphonic acid that has formula C3H8NO5P.
C3 Gene[accessedResource: C3H8NO5P][accessDate: 05-04-2011]
C3[accessedResource: C3H8NO5P][accessDate: 05-04-2011]
Complement Component 3 Gene[accessedResource: C3H8NO5P][accessDate: 05-04-2011]
This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H8NO5P][accessDate: 05-04-2011]
A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions.
A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria.
A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H24N2O8][accessDate: 05-04-2011]
Brassidic Acid[accessedResource: C22H24N2O8][accessDate: 05-04-2011]
C22:1, n-9 trans[accessedResource: C22H24N2O8][accessDate: 05-04-2011]
Fatty Acid 22:1 n-9 trans[accessedResource: C22H24N2O8][accessDate: 05-04-2011]
Fatty Acid trans 22:1 n-9[accessedResource: C22H24N2O8][accessDate: 05-04-2011]
Trans docos-13-enoic Acid[accessedResource: C22H24N2O8][accessDate: 05-04-2011]
(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate
2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester)
An alkaloid obtained from leaves of the South American shrub Erythroxylon coca.
[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester
methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate
methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate
CP25[accessedResource: C8H10O][accessDate: 05-04-2011]
HHO.C8[accessedResource: C8H10O][accessDate: 05-04-2011]
HOX3C[accessedResource: C8H10O][accessDate: 05-04-2011]
HOXC6[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox Protein 3C[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox Protein C6[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox Protein C8[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox Protein CP25[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox Protein HHO.C8[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox Protein HOXC6[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox Protein Hox-3C[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox Protein Hox-C6[accessedResource: C8H10O][accessDate: 05-04-2011]
Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H10O][accessDate: 05-04-2011]
(3S,6R,7R,11R,23S,26S,30aS,36R,38aR)-44-[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyloxy]-3-(carbamoylmethyl)-10,19-dichloro-2,3,4,5,6,7,23,25,26,36,37,38,38a-tetradecahydro-7,22,28,30,32-pentahydroxy-6-(N-methyl-D-leucyl)-2,5,24,38,39-pentaoxo-1H,22H-23,36-(epiminomethano)-8,11:18,21-dietheno-13,16:31,35-di(metheno)[1,6,9]oxadiazacyclohexadecino[4,5-m][10,2,16]benzoxadiazacyclotetracosine-26-carboxylic acid
A complex glycopeptide from Streptomyces orientalis. It inhibits a specific step in the synthesis of the peptidoglycan layer in the Gram-positive bacteria Staphylococcus aureus and Clostridium difficile.
Abutment[accessedResource: C66H75Cl2N9O24][accessDate: 05-04-2011]
The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis.
The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis.[accessedResource: C66H75Cl2N9O24][accessDate: 05-04-2011]
A chromium group element atom that has formula Cr.
A chromium group element that has formula Cr.
3-(((4-Methyl-1-piperazinyl)imino)methyl)rifamycin SV
A N-iminopiperazine that has formula C43H58N4O12.
A hydroxyisoflavone that has formula C15H10O5.
A phytoestrogenic isoflavone with antioxidant properties.
(4Z,7Z,10Z,13Z,16Z,19Z)-Docosahexaenoic acid
all-cis-4,7,10,13,16,19-docosahexaenoic acid
all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
A 14alpha-hydroxy steroid that has formula C27H44O6.
A chlorine molecular entity that has formula CH3ClHg.
3,4-methylenedioxy-8-methoxy-10-nitro-1-phenanthrenecarboxylic acid
8-methoxy-6-nitrophenanthol (3,4-d) 1,3-dioxole-5-carboxylic acid
8-methoxy-6-nitrophenanthro[3,4-d][1,3]dioxole-5-carboxylic acid
A 2alpha-hydroxy steroid that has formula C28H48O6.
A brassinosteroid that has formula C28H48O6.
An alpha-amino acid that has formula C5H10N2O3.
all-cis-icosa-5,8,11,14,17-pentaenoic acid
(5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoic acid
(5Z,8Z,11Z,14Z,17Z)-Icosapentaenoic acid
(all-Z)-5,8,11,14,17-eicosapentaenoic acid
11-Eicosenoic Acid[accessedResource: C20H30O2][accessDate: 05-04-2011]
A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H30O2][accessDate: 05-04-2011]
An eicosapentaenoic acid having cis double bonds at positions 5, 8, 11, 14 and 17.
An icosapentaenoic acid that has formula C20H30O2.
C20:1 n-9 cis[accessedResource: C20H30O2][accessDate: 05-04-2011]
Cis-icos-11-enoic[accessedResource: C20H30O2][accessDate: 05-04-2011]
Fatty Acid 20:1 n-9[accessedResource: C20H30O2][accessDate: 05-04-2011]
Gondoic Acid[accessedResource: C20H30O2][accessDate: 05-04-2011]
all-cis-5,8,11,14,17-eicosapentaenoic acid
cis-Delta(5,8,11,14,17)-eicosapentaenoic acid
A vinca alkaloid that has formula C46H56N4O10.
A member of the acrylamides that has formula C3H5NO.
C3 Gene[accessedResource: C3H5NO][accessDate: 05-04-2011]
C3[accessedResource: C3H5NO][accessDate: 05-04-2011]
Complement Component 3 Gene[accessedResource: C3H5NO][accessDate: 05-04-2011]
This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H5NO][accessDate: 05-04-2011]
A teichoic acid which is covalently bound to a lipid.
11q23.1-q23.2[accessedResource: C25H40N2O6S][accessDate: 05-04-2011]
5S-hydroxy-6R-(S-cysteinylglycinyl)-7E,9E,11E,14Z-eicosatetraenoic acid
A chromosome band present on 11q[accessedResource: C25H40N2O6S][accessDate: 05-04-2011]
A leukotriene that has formula C25H40N2O6S.
A pyrimidine nucleoside that has formula C9H13N3O5.
A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability.[accessedResource: C9H13N3O5][accessDate: 05-04-2011]
Activation of Membrane Attack Complex[accessedResource: C9H13N3O5][accessDate: 05-04-2011]
5 Androsten 3 beta hydroxy 17 one[accessedResource: MSH:D003687][accessDate: 05-04-2011]
5 Androsten 3 ol 17 one[accessedResource: MSH:D003687][accessDate: 05-04-2011]
5-Androsten-3-beta-hydroxy-17-one[accessedResource: MSH:D003687][accessDate: 05-04-2011]
5-Androsten-3-ol-17-one[accessedResource: MSH:D003687][accessDate: 05-04-2011]
A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion.
A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion.[accessedResource: MSH:D003687][accessDate: 05-04-2011]
Androst-5-en-17-one, 3-hydroxy-, (3beta)-
Androst-5-en-17-one, 3-hydroxy-, (3beta)-[accessedResource: MSH:D003687][accessDate: 05-04-2011]
Androstenolone[accessedResource: MSH:D003687][accessDate: 05-04-2011]
DHEA[accessedResource: MSH:D003687][accessDate: 05-04-2011]
Dehydroisoandrosterone[accessedResource: MSH:D003687][accessDate: 05-04-2011]
Prasterone, 3 alpha Isomer[accessedResource: MSH:D003687][accessDate: 05-04-2011]
Prasterone, 3 alpha-Isomer[accessedResource: MSH:D003687][accessDate: 05-04-2011]
Prasterone[accessedResource: MSH:D003687][accessDate: 05-04-2011]
A copper group element atom that has formula Cu.
A copper group element that has formula Cu.
(1S,3S)-3,5,12-trihydroxy-3-(hydroxyacetyl)-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(1S,3S)-3-glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
A deoxy hexoside that has formula C27H29NO11.
1,1'-Dimethyl-4,4'-bipyridinium dichloride
1,1'-Dimethyl-4,4'-dipyridylium dichloride
1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium dichloride
N,N'-Dimethyl-4,4'-bipyridinium dichloride
N,N'-Dimethyl-4,4'-bipyridylium dichloride
2-Propenoic acid, 3-(2-hydroxyphenyl)-, d-lactone
2beta,7alpha-dihydroxy-1beta-methyl-8-methylidene-13-oxo-4a,1alpha-epoxymethano-4aalpha,4bbeta-gibb-3-ene-10beta-carboxylic acid
A chlorophenoxyacetic acid that has formula C8H6Cl2O3.
CP25[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
HHO.C8[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
HOX3C[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
HOXC6[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox Protein 3C[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox Protein C6[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox Protein C8[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox Protein CP25[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox Protein HHO.C8[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox Protein HOXC6[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox Protein Hox-3C[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox Protein Hox-C6[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011]
(1S,2S,3R,4S,6R)-4,6-diamino-3-(2,6-diamino-2,3,6-trideoxy-alpha-D-ribo-hexopyranosyloxy)-2-hydroxycyclohexyl 3-amino-3-deoxy-alpha-D-glucopyranoside
(1S,2S,3R,4S,6R)-4,6-diamino-3-[(2,6-diamino-2,3,6-trideoxy-alpha-D-ribo-hexopyranosyl)oxy]-2-hydroxycyclohexyl 3-amino-3-deoxy-alpha-D-glucopyranoside
EFABP[accessedResource: C18H37N5O9][accessDate: 05-04-2011]
Epidermal Fatty Acid-Binding Protein[accessedResource: C18H37N5O9][accessDate: 05-04-2011]
Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H37N5O9][accessDate: 05-04-2011]
FABP5[accessedResource: C18H37N5O9][accessDate: 05-04-2011]
Fatty Acid Binding Protein 5[accessedResource: C18H37N5O9][accessDate: 05-04-2011]
PAFABP[accessedResource: C18H37N5O9][accessDate: 05-04-2011]
An alkyl alcohol that has formula C4H10O.
C4[accessedResource: C4H10O][accessDate: 05-04-2011]
Complement C4 Measurement[accessedResource: C4H10O][accessDate: 05-04-2011]
Complement C4[accessedResource: C4H10O][accessDate: 05-04-2011]
The determination of the amount of complement C4 present in a sample.[accessedResource: C4H10O][accessDate: 05-04-2011]
C6 Vertebra[accessedResource: C6H7NO][accessDate: 05-04-2011]
The one of three amino derivatives of phenol which has the single amino substituent located meta to the phenolic -OH group.
The sixth of the seven cervical vertebrae.[accessedResource: C6H7NO][accessDate: 05-04-2011]
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
An acetylcysteine that has formula C5H9NO3S.
L-alpha-acetamido-beta-mercaptopropionic acid
The N-acetylated derivative of natural amino acid L-cysteine.
A seco-cholestane that has formula C27H44O.
(2S,5R,6R)-6-{[(2R)-2-AMINO-2-PHENYLETHANOYL]AMINO}-3,3-DIMETHYL-7-OXO-4-THIA-1-AZABICYCLO[3.2.0]HEPTANE-2-CARBOXYLIC ACID
(2S,5R,6R)-6-{[(2R)-2-amino-2-phenylacetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
6-(D-(2-amino-2-phenylacetamido))-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid
6beta-[(2R)-2-amino-2-phenylacetamido]-2,2-dimethylpenam-3alpha-carboxylic acid
A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group.
D-(-)-6-(alpha-aminophenylacetamido)penicillanic acid
A boron group element atom that has formula Al.
A boron group element that has formula Al.
(6R,7R)-7-{[(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino}-3-{[(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl}-8-oxo-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid
7beta-{[(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino}-3-{[(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl}-3,4-didehydrocepham-4-carboxylic acid
A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups.
An ascorbic acid that has formula C6H8O6.
The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C.
An organic sodium salt that has formula C5FeN6Na2O.
C5 Gene[accessedResource: C5FeN6Na2O][accessDate: 05-04-2011]
C5[accessedResource: C5FeN6Na2O][accessDate: 05-04-2011]
Complement Component 5 Gene[accessedResource: C5FeN6Na2O][accessDate: 05-04-2011]
Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release.[accessedResource: C5FeN6Na2O][accessDate: 05-04-2011]
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-b-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-a-L-ribo-hexopyranoside
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranoside
A chromosome band present on 10q[accessedResource: C38H72N2O12][accessDate: 05-04-2011]
(1aS,5R,6R,6aE,9aR)-6-{[2,6-dideoxy-2-(methylamino)-alpha-D-galactopyranosyl]oxy}-1a-[(4R)-2-oxo-1,3-dioxolan-4-yl]-2,3,8,9-tetradehydro-1a,5,6,9a-tetrahydrocyclopenta[5,6]cyclonona[1,2-b]oxiren-5-yl 2-hydroxy-7-methoxy-5-methyl-1-naphthoate
5,6-dihydroxy-4-oxo-2-phenyl-4H-1-benzopyran-7-yl beta-D-glucopyranosiduronic acid
5,6-dihydroxy-4-oxo-2-phenyl-4H-chromen-7-yl beta-D-glucopyranosiduronic acid
7-D-glucuronic acid-5,6-dihydroxyflavone
The glycosyloxyflavone which is the 7-O-glucuronide of baicalein.
11-Eicosenoic Acid[accessedResource: C20H12][accessDate: 05-04-2011]
A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H12][accessDate: 05-04-2011]
An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings.
C20:1 n-9 cis[accessedResource: C20H12][accessDate: 05-04-2011]
Cis-icos-11-enoic[accessedResource: C20H12][accessDate: 05-04-2011]
Fatty Acid 20:1 n-9[accessedResource: C20H12][accessDate: 05-04-2011]
Gondoic Acid[accessedResource: C20H12][accessDate: 05-04-2011]
An aluminium coordination entity that has formula AlCl3.
A benzimidazolamine pesticide that has formula C14H18N4O3.
A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.
A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.[accessedResource: C14H18N4O3][accessDate: 05-04-2011]
C14 Urea[accessedResource: C14H18N4O3][accessDate: 05-04-2011]
Pytest[accessedResource: C14H18N4O3][accessDate: 05-04-2011]
UREA, C-14[accessedResource: C14H18N4O3][accessDate: 05-04-2011]
Urea C-14[accessedResource: C14H18N4O3][accessDate: 05-04-2011]
methyl [1-(butylcarbamoyl)-1H-benzimidazol-2-yl]carbamate
methyl {1-[(butylamino)carbonyl]-1H-benzimidazol-2-yl}carbamate
3,5-dibromo-4-hydroxyphenyl-2-ethyl-3-benzofuranyl ketone
11-Eicosenoic Acid[accessedResource: C20H14O3][accessDate: 05-04-2011]
A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H14O3][accessDate: 05-04-2011]
C20:1 n-9 cis[accessedResource: C20H14O3][accessDate: 05-04-2011]
Cis-icos-11-enoic[accessedResource: C20H14O3][accessDate: 05-04-2011]
Fatty Acid 20:1 n-9[accessedResource: C20H14O3][accessDate: 05-04-2011]
Gondoic Acid[accessedResource: C20H14O3][accessDate: 05-04-2011]
2-amino-3-[4-(4-hydroxy-3,5-diiodophenoxy)-3,5-diiodophenyl]propanoic acid
A 1,2-glycol compound produced via reaction of ethylene oxide with water.
C2 Mouse[accessedResource: C2H6O2][accessDate: 05-04-2011]
C2[accessedResource: C2H6O2][accessDate: 05-04-2011]
A compound comprising a benzene ring core carrying a carboxylic acid substituent.
C7[accessedResource: C7H6O2][accessDate: 05-04-2011]
CRG-2[accessedResource: C7H6O2][accessDate: 05-04-2011]
CXCL10 wt Allele[accessedResource: C7H6O2][accessDate: 05-04-2011]
Chemokine (C-X-C Motif) Ligand 10 wt Allele[accessedResource: C7H6O2][accessDate: 05-04-2011]
Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression.[accessedResource: C7H6O2][accessDate: 05-04-2011]
IFI10[accessedResource: C7H6O2][accessDate: 05-04-2011]
INP10[accessedResource: C7H6O2][accessDate: 05-04-2011]
IP-10[accessedResource: C7H6O2][accessDate: 05-04-2011]
MOB-1[accessedResource: C7H6O2][accessDate: 05-04-2011]
SCYB10[accessedResource: C7H6O2][accessDate: 05-04-2011]
gIP-10[accessedResource: C7H6O2][accessDate: 05-04-2011]
An amide that has formula C18H14F4N2O4S.
Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species.
(6aR)-5,6,6a,7-Tetrahydro-6-methyl-4H-dibenzo(de,g)chinolin-10,11-diol hydrochlorid
6abeta-Aporphine-10,11-diol hydrochloride hemihydrate
ChemIDplus:41372-20-7 "CAS Registry Number"
"A hydrate that has formula C34H38Cl2N2O5." []
A platinum coordination entity that has formula C6H12N2O4Pt.
A bleomycin that has formula C55H84N17O21S3.
A 3-hydroxy steroid that has formula C32H47F5O3S.
4-[(4-methylpiperazin-1-yl)methyl]-N-{4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl}benzamide methanesulfonate
(2S-(2alpha,3beta,4beta))-2-carboxy-4-(1-methylethenyl)-3-pyrrolidineacetic acid
A pyrrolidinemonocarboxylic acid that has formula C10H15NO4.
(5'alpha)-2-bromo-12'-hydroxy-5'-(2-methylpropyl)-2'-(propan-2-yl)-3',6',18-trioxoergotaman methanesulfonate
(5'alpha)-2-bromo-12'-hydroxy-5'-(2-methylpropyl)-3',6',18-trioxo-2'-(propan-2-yl)ergotaman methanesulfonate (salt)
(5'alpha)-2-bromo-12'-hydroxy-5'-isobutyl-2'-isopropyl-3',6',18-trioxoergotaman methanesulfonate
4F9[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
A methanesulfonate salt that has formula C33H44BrN5O8S.
C33[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
CD82 Antigen wt Allele[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
CD82 wt Allele[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
CD82[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
GR15[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression.
Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression.[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
IA4[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
KAI1 Gene[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
KAI1[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
R2[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
SAR2[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
ST6[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011]
An aspartic acid derivative having an N-methyl substituent and D-configuration.
A platinum coordination entity that has formula C6H14N2.C2O4.Pt.
CP25[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
HHO.C8[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
HOX3C[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
HOXC6[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox Protein 3C[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox Protein C6[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox Protein C8[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox Protein CP25[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox Protein HHO.C8[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox Protein HOXC6[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox Protein Hox-3C[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox Protein Hox-C6[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011]
3,3-bis(p-hydroxyphenyl)-3H-2,1-benzoxathiole 1,1-dioxide
3H-2,1-Benzoxathiole 1,1-dioxide in which both of the hydrogens at position 3 have been substituted by 4-hydroxyphenyl groups. A pH indicator changing colour from yellow below pH 6.8 to bright pink above pH 8.2, it is commonly used as an indicator in cell cultures and in home swimming pool test kits. It is also used in the (now infrequently performed) phenolsulfonphthalein (PSP) test for estimation of overall blood flow through the kidney.
4,4'-(3H-2,1-benzoxathiol-3-ylidene)bisphenol S,S-dioxide
Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.
Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H14O5S][accessDate: 05-04-2011]
Proto-Oncogene TRE-2[accessedResource: C19H14O5S][accessDate: 05-04-2011]
TRE-2 Gene[accessedResource: C19H14O5S][accessDate: 05-04-2011]
USP6 wt Allele[accessedResource: C19H14O5S][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele
Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H14O5S][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 Gene[accessedResource: C19H14O5S][accessDate: 05-04-2011]
alpha-hydroxy-alpha,alpha-bis(p-hydroxyphenyl)-o-toluenesulfonic acid gamma-sultone
A metal bromide salt with a K(+) counterion.
(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one dihydrochloride
(6R)-tetrahydrobiopterin dihydrochloride
((4-Chloro-6-((2,3-dimethylphenyl)amino)-2-pyrimidinyl)thio)acetic acid
(4-Chloro-6-(2,3-xylidino)-2-pyrimidinylthio)acetic acid
({4-chloro-6-[(2,3-dimethylphenyl)amino]pyrimidin-2-yl}sulfanyl)acetic acid
A hydroxyaldehyde that has formula C9H16O2.
(3,4-methylenedioxy-6-propylbenzyl) (butyl) diethylene glycol ether
2-(2-butoxyethoxy)ethyl 6-propylpiperonyl ether
6-propylpiperonyl butyl diethylene glycol ether
A benzodioxole that has formula C19H30O5.
Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H30O5][accessDate: 05-04-2011]
Proto-Oncogene TRE-2[accessedResource: C19H30O5][accessDate: 05-04-2011]
TRE-2 Gene[accessedResource: C19H30O5][accessDate: 05-04-2011]
USP6 wt Allele[accessedResource: C19H30O5][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H30O5][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 Gene[accessedResource: C19H30O5][accessDate: 05-04-2011]
A nitrosamine that has formula C10H13N3O2.
(1R,2R,5R,8R,9S,10R,11S,12S)-12-hydroxy-11-methyl-6-methylidene-16-oxo-15-oxapentacyclo[9.3.2.1(5,8).0(1,10).0(2,8)]heptadecane-9-carboxylic acid
(1S,2S,4aR,4bR,7R,9aR,10S,10aR)-2-hydroxy-1-methyl-8-methylidene-13-oxododecahydro-4a,1-(epoxymethano)-7,9a-methanobenzo[a]azulene-10-carboxylic acid
2beta,4a-dihydroxy-1-methyl-8-methylene-4aalpha,4bbeta-gibbane-1alpha,10beta-dicarboxylic acid, 1,4a-lactone
2beta-hydroxy-1beta-methyl-8-methylidene-13-oxo-4a,1alpha-epoxymethano-4aalpha,4bbeta-gibbane-10beta-carboxylic acid
A naphthylacetic acid that has formula C12H10O2.
Acoustic[accessedResource: C16H10][accessDate: 05-04-2011]
An ortho- and peri-fused polycyclic arene that has formula C16H10.
A member of the 4-nitrotoluenes that has formula C7H7NO2.
A nitrotoluene that has formula C7H7NO2.
An inorganic chloride salt that has formula CaCl2.
A member of the aluminium hydroxides that has formula H3AlO3.
An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines.
A nutrient is a chemical element needed by all life forms.
The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.).
nutrients[accessedResource: MO_867][accessDate: 05-04-2011]
this should become a quality of a material i think
An agrochemical is a substance that is used in agriculture or horticulture.
10p11.1[accessedResource: C24H20N6O3][accessDate: 05-04-2011]
2-(ethyloxy)-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylic acid
2-ethoxy-1-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-7-benzimidazolecarboxylic acid
2-ethoxy-1-({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl)-1H-benzimidazole-7-carboxylic acid
2-ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylic acid
2-ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4ethyl}-1H-benzimidazole-7-carboxylic acid
A benzimidazolecarboxylic acid that has formula C24H20N6O3.
A chromosome band present on 10p[accessedResource: C24H20N6O3][accessDate: 05-04-2011]
A catecholamine that has formula C9H13NO3.
A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) (MSH)
A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) (MSH)[accessedResource: NIFSTD:sao1843715402][accessDate: 05-04-2011]
High molecular weight, linear polymers, composed of nucleotides containing ribose and linked by phosphodiester bonds; RNA is central to the synthesis of proteins.
RNA is a chemical compound which are naturally occurring polyribonucleotides.
An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation.
(2S)-1-[(2S)-2-methyl-3-sulfanylpropanoyl]pyrrolidine-2-carboxylic acid
An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant.
A carbamate ester that has formula C12H11NO2.
A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)[accessedResource: C12H11NO2][accessDate: 05-04-2011]
Ras (sub 5-17) Peptide (C12)[accessedResource: C12H11NO2][accessDate: 05-04-2011]
Ras Peptide CYS[accessedResource: C12H11NO2][accessDate: 05-04-2011]
8-{(1R,5R)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid
The (9R,13R)-diastereomer of 12-oxophytodienoic acid.
An organochlorine acaricide that has formula C9H11Cl3NO3PS.
O,O-diethyl O-(3,5,6-trichloropyridin-2-yl) phosphorothioate
O,O-diethyl O-(3,5,6-trichloropyridin-2-yl) thiophosphate
Phosphorothioic acid, O,O-diethyl O-(3,5,6-trichloro-2-pyridinyl) ester
2-(4-Chlorophenoxy)-2-methylpropionic acid
2-(4-chlorophenoxy)-2-methylpropanoic acid
2-(p-Chlorophenoxy)-2-methylpropionic acid
Acide (p-chlorophenoxy)-2 methyl-2 propionique
alpha-(4-chlorophenoxy)-alpha-methylpropionic acid
O,O-Diethyl 2-isopropyl-4-methylpyrimidyl-6-thiophosphate
O,O-Diethyl O-(2-isopropyl-4-methyl-6-pyrimidyl) thionophosphate
O,O-Diethyl O-(2-isopropyl-6-methyl-4-pyrimidinyl) phosphorothioate
O,O-diethyl O-[6-methyl-2-(1-methylethyl)pyrimidin-4-yl] thiophosphate
O,O-diethyl O-[6-methyl-2-(propan-2-yl)pyrimidin-4-yl] phosphorothioate
Phosphorothioic acid, O,O-diethyl O-(6-methyl-2-(1-methylethyl)-4-pyrimidinyl) ester
1,2-Benzenedicarboxylic acid dibutyl ester
A smoking cessation strategy recommended by the National Cancer Institute. The first 'A' is to ask patients about their smoking status at every visit and record this information. The second 'A' is to advise smokers to quit. The third 'A' is to assist patients' cessation attempts where possible by helping them to set a quit date, providing self-help materials, prescribing pharmacological treatment, and recommending counseling. The final 'A' is to arrange follow-up contact. (from Medscape)
Acoustic[accessedResource: C16H22O4][accessDate: 05-04-2011]
Benzene-o-dicarboxylic acid di-n-butyl ester
The dibutyl ester of 1,2-benzenedicarboxylic acid.
The dibutyl ester of benzene-1,2-dicarboxylic acid.
o-Benzenedicarboxylic acid dibutyl ester
A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2.
(E,E)-1-Methylethyl 11-methoxy-3,7,11-trimethyl-2,4-dodecadienoate
(E,E)-11-methoxy-3,7,11-trimethyl-2,4-dodecadienoic acid 1-methylethyl ester
(E,E)-isopropyl 11-methoxy-3,7,11-trimethyl-2,4-dodecadienoate
An isopropyl 11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate that has formula C19H34O3.
Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H34O3][accessDate: 05-04-2011]
Proto-Oncogene TRE-2[accessedResource: C19H34O3][accessDate: 05-04-2011]
TRE-2 Gene[accessedResource: C19H34O3][accessDate: 05-04-2011]
USP6 wt Allele[accessedResource: C19H34O3][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H34O3][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 Gene[accessedResource: C19H34O3][accessDate: 05-04-2011]
isopropyl (2E,4E)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate
isopropyl (EE)-(RS)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate
propan-2-yl (2E,4E)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate
(5-(2-thienylcarbonyl)-1H-benzimidazol-2-yl)-carbamic acid methyl ester
A benzimidazole that has formula C14H11N3O3S.
A thiophene that has formula C14H11N3O3S.
N-(5-(2-thenoyl)-2-benzimidazolyl)carbamic acid methyl ester
methyl (5-(2-thienylcarbonyl))-1H-benzimidazole-2-ylcarbamate
methyl [5-(2-thienylcarbonyl)-1H-benzimidazol-2-yl]carbamate
A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)[accessedResource: C12H14N2][accessDate: 05-04-2011]
N,N'-dimethyl-4,4'-bipyridinium dication
Ras (sub 5-17) Peptide (C12)[accessedResource: C12H14N2][accessDate: 05-04-2011]
Ras Peptide CYS[accessedResource: C12H14N2][accessDate: 05-04-2011]
(3-Phenoxyphenyl)methyl (+-)-cis,trans-3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate
3-(2,2-Dichloroethenyl)-2,2-dimethylcyclopropane carboxylic acid, (3-phenoxyphenyl) methyl ester
3-phenoxybenzyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate
C21[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
DC42[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
FLJ12894[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
IRA1[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
TBL1XR1 wt Allele[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
TBLR1[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011]
[3-(phenyloxy)phenyl]methyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate
(6R,7R)-3-[(carbamoyloxy)methyl]-7-{[(2Z)-2-furan-2-yl-2-(methoxyimino)acetyl]amino}-8-oxo-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid
3-[(carbamoyloxy)methyl]-7beta-[(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido]-3,4-didehydrocepham-4-carboxylic acid
A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain.
A metal sulfate compound having zinc(2+) as the counterion.
A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces.
An apratoxin that has formula C45H69N5O8S.
N-((2E)-3-((4S)-4,5-dihydro-2-((1S,2S,4S,6S)-2,6-dihydroxy-1,4,7,7-tetramethyloctyl)-4-thiazolyl)-2-methyl-1-oxo-2-propenyl)-O-methyl-L-tyrosyl-N-methyl-L-alanyl-N-methyl-L-isoleucyl-L-proline (4-16)-lactone
Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization.
A substance that diminishes the rate of a chemical reaction.
Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids.
A substance used in the treatment or control of nematode infestations.
A cadmium coordination entity that has formula CdCl2.
A substance that reduces or suppresses inflammation.
An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins.
Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect.
antipsychotic[accessedResource: NIFSTD:nlx_chem_20090603][accessDate: 05-04-2011]
Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders.
A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors.
A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever.
An agent that selectively binds to and activates beta-adrenergic receptors.
A drug which lowers the blood glucose level.
A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes.
A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume.
A substance that inhibits or prevents the proliferation of neoplasms.
A drug used to cause dilation of the blood vessels.
A drug used to prevent seizures or reduce their severity.
Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin.
A substance used to treat hyperlipidemia (an excess of lipids in the blood).
A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means.
An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response.
A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety.
A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues.
A substance used to lower plasma cholesterol levels.
A drug used to treat rheumatoid arthritis.
A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome.
A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form.
1,1'-Hexamethylene bis(5-(p-chlorophenyl)biguanide)
A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge.
N',N'''''-hexane-1,6-diylbis[N-(4-chlorophenyl)(imidodicarbonimidic diamide)]
A quinoline alkaloid that has formula C18H26ClN3.
EFABP[accessedResource: C18H26ClN3][accessDate: 05-04-2011]
Epidermal Fatty Acid-Binding Protein[accessedResource: C18H26ClN3][accessDate: 05-04-2011]
Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H26ClN3][accessDate: 05-04-2011]
FABP5[accessedResource: C18H26ClN3][accessDate: 05-04-2011]
Fatty Acid Binding Protein 5[accessedResource: C18H26ClN3][accessDate: 05-04-2011]
PAFABP[accessedResource: C18H26ClN3][accessDate: 05-04-2011]
A strontium salt that has formula Cl2Sr.
A member of the sapphyrins that has formula C24H17N5.
1,8-anhydro-S(1),C(2.5)-cyclo[L-cysteinyl-L-asparaginyl-trans-4-hydroxy-L-prolyl-(R)-4,5-dihydroxy-L-isoleucyl-6-hydroxy-L-tryptophylglycyl-L-isoleucylglycine] (R)-S(1)-oxide
A heterodetic cyclic peptide that has formula C39H54N10O14S.
A S-glycosyl compound that has formula C18H33ClN2O5S.
Methyl 7-chloro-6,7,8-trideoxy-6-(1-methyl-trans-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-L-threo-alpha-D-galacto-octopyranoside
methyl 7-chloro-6,7,8-trideoxy-6-({[(2S,4R)-1-methyl-4-propylpyrrolidin-2-yl]carbonyl}amino)-1-thio-D-glycero-alpha-D-galacto-octopyranoside
2-(4-Chlorophenoxy)-2-methylpropanoic acid ethyl ester
2-(p-Chlorophenoxy)-2-methylpropionic acid ethyl ester
alpha-(p-Chlorophenoxy)isobutyric acid, ethyl ester
alpha-p-Chlorophenoxyisobutyryl ethyl ester
ethyl 2-(4-chlorophenoxy)-2-methylpropanoate
(1aR,1bS,4aR,7aS,7bS,8R,9R,9aS)-9a-acetoxy-4a,7b-dihydroxy-3-(hydroxymethyl)-1,1,6,8-tetramethyl-5-oxo-1a,1b,4,4a,5,7a,7b,8,9,9a-decahydro-1H-cyclopropa[3,4]benzo[1,2-e]azulen-9-yl tetradecanoate
A phorbol ester that has formula C36H56O8.
Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase.
3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine hydrochloride
3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-aminium chloride
(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl dihydrogen phosphate
(2S,3R,4E)-2-amino-4-octadecene-1,3-diol 1-(dihydrogen phosphate)
A phosphosphingolipid that has formula C18H38NO5P.
EFABP[accessedResource: C18H38NO5P][accessDate: 05-04-2011]
Epidermal Fatty Acid-Binding Protein[accessedResource: C18H38NO5P][accessDate: 05-04-2011]
Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H38NO5P][accessDate: 05-04-2011]
FABP5[accessedResource: C18H38NO5P][accessDate: 05-04-2011]
Fatty Acid Binding Protein 5[accessedResource: C18H38NO5P][accessDate: 05-04-2011]
PAFABP[accessedResource: C18H38NO5P][accessDate: 05-04-2011]
A drug, solvent, chemical, etc., with a property that can be measured such as concentration.
A molecular entity consisting of two or more chemical elements.
An imidazole that has formula C22H17ClN2.
"A beta-D-glucan in which the glucose units are connected by (1->3) linkages." []
A hormone that specifically regulates growth.
An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists.
An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma.
Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists.
dye role
Cy3 dye
Cy5 dye
A synthetic non-aromatisable androgen and anabolic steroid. It binds strongly to the androgen receptor and has therefore also been used as an affinity label for this receptor in the prostate and in prostatic tumors.
Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H24O2][accessDate: 05-04-2011]
Proto-Oncogene TRE-2[accessedResource: C19H24O2][accessDate: 05-04-2011]
TRE-2 Gene[accessedResource: C19H24O2][accessDate: 05-04-2011]
USP6 wt Allele[accessedResource: C19H24O2][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H24O2][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 Gene[accessedResource: C19H24O2][accessDate: 05-04-2011]
A secondary alcohol that has formula C15H18ClN3O.
A triazole that has formula C15H18ClN3O.
A drug that has a strengthening effect on the heart or that can increase cardiac output.
One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools.
Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid.
C2 Mouse[accessedResource: C2H3N][accessDate: 05-04-2011]
C2[accessedResource: C2H3N][accessDate: 05-04-2011]
mitochondrial NADH:ubiquinone reductase inhibitor
mitochondrial NADH dehydrogenase inhibitor
(3R,5S,6E)-7-(4-(4-fluorophenyl)-6-(1-methylethyl)-2-(ethyl(methylsulfonyl)amino)-5-pyrimidinyl)-3,5-dihydroxy-6-heptenoic acid
(3R,5S,6E)-7-{4-(4-fluorophenyl)-2-[methyl(methylsulfonyl)amino]-6-(propan-2-yl)pyrimidin-5-yl}-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-{4-(4-fluorophenyl)-6-isopropyl-2-[methyl(methylsulfonyl)amino]pyrimidin-5-yl}-3,5-dihydroxyhept-6-enoic acid
11-Eicosenoic Acid[accessedResource: C20H22N2O][accessDate: 05-04-2011]
4-tert-butylphenethylquinazolin-4-yl ether
A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H22N2O][accessDate: 05-04-2011]
A quinazoline that has formula C20H22N2O.
C20:1 n-9 cis[accessedResource: C20H22N2O][accessDate: 05-04-2011]
Cis-icos-11-enoic[accessedResource: C20H22N2O][accessDate: 05-04-2011]
Fatty Acid 20:1 n-9[accessedResource: C20H22N2O][accessDate: 05-04-2011]
Gondoic Acid[accessedResource: C20H22N2O][accessDate: 05-04-2011]
A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET).
A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET).[accessedResource: C11H12NO4PS2][accessDate: 05-04-2011]
An organothiophosphate insecticide that has formula C11H12NO4PS2.
C-11 Choline[accessedResource: C11H12NO4PS2][accessDate: 05-04-2011]
C11 Choline[accessedResource: C11H12NO4PS2][accessDate: 05-04-2011]
Carbon C 11 Choline[accessedResource: C11H12NO4PS2][accessDate: 05-04-2011]
O,O-Dimethyl S-(phthalimidomethyl) dithiophosphate
O,O-Dimethyl S-phthalimidomethyl phosphorodithioate
O,O-Dimethyl phthalimidomethyl phosphorodithioate
S-((1,3-Dihydro-1,3-dioxo-2H-isoindol-2-yl)methyl)phosphorodithioic acid O,O-dimethyl ester
S-[(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)methyl] O,O-dimethyl dithiophosphate
S-[(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)methyl] O,O-dimethyl phosphorodithioate
A surfactant with an uncharged hydrophilic headgroup.
A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency.
A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H27FN4O2][accessDate: 05-04-2011]
Brassidic Acid[accessedResource: C22H27FN4O2][accessDate: 05-04-2011]
C22:1, n-9 trans[accessedResource: C22H27FN4O2][accessDate: 05-04-2011]
Fatty Acid 22:1 n-9 trans[accessedResource: C22H27FN4O2][accessDate: 05-04-2011]
Fatty Acid trans 22:1 n-9[accessedResource: C22H27FN4O2][accessDate: 05-04-2011]
Trans docos-13-enoic Acid[accessedResource: C22H27FN4O2][accessDate: 05-04-2011]
(2aE,4E,8E)-(5'S,6S,6'R,7S,11R,13S,15S,17aR,20R,20aR,20bS)-6'-((S)-sec-Butyl)-5',6,6',7,10,11,14,15,17a,20,20a,20b-dodecahydro-20,20b-dihydroxy-5',6,8,19-tetramethyl-17-oxospiro(11,15-methano-2H,13H,17H-furo(4,3,2-pq)(2,6)benzodioxacyclooctadecin-13,2'-(2H)pyran)-7-yl 2,6-dideoxy-4-O-(2,6-dideoxy-3-O-methyl-alpha-L-arabino-hexopyranosyl)-3-O-methyl-alpha-L-arabino-hexopyranoside
10q23.33[accessedResource: C48H72O14][accessDate: 05-04-2011]
A chromosome band present on 10q[accessedResource: C48H72O14][accessDate: 05-04-2011]
Mixture of 80% avermectin B1a and 20% avermectin B1b.
A benzoylurea insecticide that has formula C17H8Cl2F8N2O3. Commonly used in flea treatments.
ABL1 Gene[accessedResource: C17H8Cl2F8N2O3][accessDate: 05-04-2011]
ABL1[accessedResource: C17H8Cl2F8N2O3][accessDate: 05-04-2011]
This gene is involved in cell adhesion, differentiation, division and stress response.[accessedResource: C17H8Cl2F8N2O3][accessDate: 05-04-2011]
v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene[accessedResource: C17H8Cl2F8N2O3][accessDate: 05-04-2011]
(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-2-isopropyl-4-phenyl-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid
(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-4-phenyl-2-(propan-2-yl)-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid
(R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid
4F9[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]-3,5-DIHYDROXY-HEPTANOIC ACID
A dihydroxy monocarboxylic acid that has formula C33H35FN2O5.
C33[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
CD82 Antigen wt Allele[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
CD82 wt Allele[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
CD82[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
GR15[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression.[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
IA4[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
KAI1 Gene[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
KAI1[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
SAR2[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
ST6[accessedResource: C33H35FN2O5][accessDate: 05-04-2011]
C21[accessedResource: C21H20O6][accessDate: 05-04-2011]
DC42[accessedResource: C21H20O6][accessDate: 05-04-2011]
FLJ12894[accessedResource: C21H20O6][accessDate: 05-04-2011]
Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H20O6][accessDate: 05-04-2011]
IRA1[accessedResource: C21H20O6][accessDate: 05-04-2011]
TBL1XR1 wt Allele[accessedResource: C21H20O6][accessDate: 05-04-2011]
TBLR1[accessedResource: C21H20O6][accessDate: 05-04-2011]
Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H20O6][accessDate: 05-04-2011]
Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H20O6][accessDate: 05-04-2011]
(+-)-2-(Bis(2-chloroethyl)amino)tetrahydro-2H-1,3,2-oxazaphosphorine 2-oxide monohydrate
(Bis(chloro-2-ethyl)amino)-2-tetrahydro-3,4,5,6-oxazaphosphorine-1,3,2-oxide-2 monohydrate
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridine monohydrate
2-(Bis(2-chloroethyl)amino)-1-oxa-3-aza-2-phosphocyclohexane 2-oxide monohydrate
2-(Di(2-chloroethyl)amino)-1-oxa-3-aza-2-phosphacyclohexane-2-oxide monohydrate
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester monohydrate
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxaphosphorin-2-amine, 2-oxide monohydrate
N,N-Bis(beta-chloroethyl)-N',O-trimethylenephosphoric acid ester diamide monohydrate
N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide hydrate
N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide--water (1/1)
A cyclic phosphorodiamide-based nitrogen mustard.
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C7[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
CRG-2[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
CXCL10 wt Allele[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
Chemokine (C-X-C Motif) Ligand 10 wt Allele[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression.[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
IFI10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
INP10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
IP-10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
MOB-1[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
SCYB10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
gIP-10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011]
cyano(4-fluoro-3-phenoxyphenyl)methyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate
(alphaE)-2-[[6-(2-cyanophenoxy)-4-pyrimidinyl]oxy]-alpha-(methoxymethylene) benzeneacetic acid methyl ester
methyl (2E)-2-(2-{[6-(2-cyanophenoxy)pyrimidin-4-yl]oxy}phenyl)-3-methoxyprop-2-enoate
methyl (E)-2-[2-[6-(2-cyanophenoxy)pyrimidin-4-yloxy]phenyl]-3-methoxyacrylate
A pyrazole that has formula C17H14F3N3O2S.
A fluorinated steroid that has formula C22H29FO5.
A dinitrophenol having the nitro groups at the 2- and 4-positions.
Any of the six isomers consisting of phenol where two hydrogen atoms are substituted by nitro groups.
C6 Vertebra[accessedResource: C6H4N2O5][accessDate: 05-04-2011]
The sixth of the seven cervical vertebrae.[accessedResource: C6H4N2O5][accessDate: 05-04-2011]
(ethane-1,2-diyldinitrilo)tetraacetic acid
(ethylenedinitrilo)tetraacetic acid, ion(4-)
N,N'-1,2-Ethane diylbis-(N-(carboxymethyl)glycine)
{[-(BIS-CARBOXYMETHYL-AMINO)-ETHYL]-CARBOXYMETHYL-AMINO}-ACETIC ACID
(3R,4aR,5S,6S,6aS,10S,10aR,10bS)-3-ethenyl-6,10,10b-trihydroxy-3,4a,7,7,10a-pentamethyl-1-oxododecahydro-1H-benzo[f]chromen-5-yl acetate
A member of the flavones that has formula C15H10O2.
(2S)-2-amino-3-(5-fluoro-2,4-dioxo-1,2,3,4-tetrahydropyrimidin-1-yl)propanoic acid
(S)-alpha-Amino-5-fluoro-3,4-dihydro-2,4-dioxo-1(2H)-pyrimmidinepropanoic acid
2-AMINO-3-(5-FLUORO-2,4-DIOXO-3,4-DIHYDRO-2H-PYRIMIDIN-1-YL)-PROPIONIC ACID
A tetrahydroxyflavone that has formula C15H10O6.
2-[3-(trifluoromethyl)anilino]benzoic acid
2-[[3-(TRIFLUOROMETHYL)PHENYL]AMINO] BENZOIC ACID
2-{[3-(trifluoromethyl)phenyl]amino}benzoic acid
3'-trifluoromethyldiphenylamine-2-carboxylic acid
N-(3-trifluoromethylphenyl)anthranilic acid
N-(alpha,alpha,alpha-trifluoro-m-tolyl)anthranilic acid
(2S)-2-[4-(2-methylpropyl)phenyl]propanoic acid
(S)-alpha-methyl-4-(2-methylpropyl)benzeneacetic acid
A dipeptide that has formula C21H31N3O5.
4-[(1S)-1-amino-1-carboxyethyl]benzoic acid
4-amino-N(10)-methylpteroylglutamic acid
A pteridine that has formula C20H22N8O5.
N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid
N-[(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
10-trans-12-cis-conjugated linoleic acid
trans-10,cis-12-conjugated linoleic acid
"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration." []
LIPID MAPS:LMFA01030125 "LIPID MAPS instance"
A phenol resulting from the formal substitution of the hydrogen at the 2 position of 1,3-diisopropylbenzene by a hydroxy group.
A phenanthroline that has formula C12H8N2.
(o-(2,6-dichloroanilino)phenyl)acetic acid monosodium salt
(o-(2,6-dichloroanilino)phenyl)acetic acid sodium salt
2-((2,6-dichlorophenyl)amino)benzeneacetic acid monosodium salt
An organic sodium salt that has formula C14H10Cl2NNaO2.
sodium (o-((2,6-dichlorophenyl)amino)phenyl)acetate
sodium (o-(2,6-dichloroanilino)phenyl)acetate
sodium {2-[(2,6-dichlorophenyl)amino]phenyl}acetate
A N-methylpiperazine that has formula C29H31N7O.
(2aR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha R*,betaS*),11alpha,12alpha,12balpha))-beta-(Benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
4alpha,10beta-bis(acetyloxy)-13alpha-[(2S,3S)-3-benzamido-2-hydroxy-3-phenylpropanoyloxy]-1,7beta-dihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
"An aromatic amine that has formula C13H14N2." []
ChemIDplus:321-64-2 "CAS Registry Number"
KEGG COMPOUND:321-64-2 "CAS Registry Number"
NIST Chemistry WebBook:321-64-2 "CAS Registry Number"
Beilstein:147610 "Beilstein Registry Number"
A trichostatin that has formula C17H22N2O3.
2,4-difluoro-alpha,alpha-bis(1H-1,2,4-triazol-1-ylmethyl)benzyl alcohol
A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.[accessedResource: C13H12F2N6O][accessDate: 05-04-2011]
A tertiary alcohol that has formula C13H12F2N6O.
A triazole that has formula C13H12F2N6O.
C13 Urea[accessedResource: C13H12F2N6O][accessDate: 05-04-2011]
Helicosol[accessedResource: C13H12F2N6O][accessDate: 05-04-2011]
UREA, C-13[accessedResource: C13H12F2N6O][accessDate: 05-04-2011]
Urea C-13[accessedResource: C13H12F2N6O][accessDate: 05-04-2011]
Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements.
A polymer composed of repeating ethyleneoxy units.
A diacyl lipopeptide that has formula C65H126N10O12S.
C4[accessedResource: C4H8O2][accessDate: 05-04-2011]
Complement C4 Measurement[accessedResource: C4H8O2][accessDate: 05-04-2011]
Complement C4[accessedResource: C4H8O2][accessDate: 05-04-2011]
The determination of the amount of complement C4 present in a sample.[accessedResource: C4H8O2][accessDate: 05-04-2011]
2-[(2,6-dichlorophenyl)amino]benzeneacetic acid
A monocarboxylic acid consisting of phenylacetic acid having a (2,6-dichlorophenyl)amino group at the 2-position. A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt.
A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt.
[2-(2,6-dichloroanilino)phenyl]acetic acid
{2-[(2,6-dichlorophenyl)amino]phenyl}acetic acid
(6R,7R)-3-{[(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl}-8-oxo-7-[(1H-tetrazol-1-ylacetyl)amino]-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid
3-{[(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl}-7beta-[(1H-tetrazol-1-ylacetyl)amino]-3,4-didehydrocepham-4-carboxylic acid
A cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side groups.
(4R,5S)-5-((2-aminoethyl)amino)-N(2)-(10,12-dimethyltetradecanoyl)-4-hydroxy-L-ornithyl-L-threonyl-trans-4-hydroxy-L-prolyl-(S)-4-hydroxy-4-(p-hydroxyphenyl)-L-threonyl-threo-3-hydroxy-L-ornithyl-trans-3-hydroxy-L-proline cyclic (6-1)-peptide
1-[(4R,5S)-5-[(2-aminoethyl)amino]-N(2)-(10,12-dimethyl-1-oxotetradecyl)-4-hydroxy-L-ornithine]-5-[(3R)-3-hydroxy-L-ornithine]-pneumocandin B0
A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall.
2-Furfurylamino-4-chloro-5-sulfamoylbenzoic acid
4-Chloro-5-sulfamoyl-N-furfuryl-anthranilic acid
4-Chloro-N-(2-furylmethyl)-5-sulfamoylanthranilic acid
4-Chloro-N-furfuryl-5-sulfamoylanthranilic acid
4-chloro-2-{[(furan-2-yl)methyl]amino}-5-sulfamoylbenzoic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[P-[2-P-CHLOROBENZAMIDO)ETHYL]PHENOXY]-2-METHYLPROPIONIC ACID
2-{4-[2-(4-chlorobenzamido)ethyl]phenoxy}-2-methylpropanoic acid
A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases.
A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases.[accessedResource: MSH:D008075][accessDate: 05-04-2011]
Cholesterol esters and free cholesterol which are contained in or bound to high-density lipoproteins (HDL).
Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.
Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.[accessedResource: MSH:D008076][accessDate: 05-04-2011]
Cholesterol, HDL2[accessedResource: MSH:D008076][accessDate: 05-04-2011]
Cholesterol, HDL3[accessedResource: MSH:D008076][accessDate: 05-04-2011]
Cholesterol, HDL[accessedResource: MSH:D008076][accessDate: 05-04-2011]
Cholesterol, alpha-Lipoprotein[accessedResource: MSH:D008076][accessDate: 05-04-2011]
HDL Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011]
HDL(2) Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011]
HDL(3) Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011]
HDL2 Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011]
HDL3 Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011]
Heavy Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011]
High Density Lipoprotein Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011]
High Density Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011]
High-Density Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011]
Lipoproteins, HDL[accessedResource: MSH:D008075][accessDate: 05-04-2011]
Lipoproteins, Heavy[accessedResource: MSH:D008075][accessDate: 05-04-2011]
Lipoproteins, High-Density[accessedResource: MSH:D008075][accessDate: 05-04-2011]
alpha Lipoprotein Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011]
alpha Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011]
alpha-1 Lipoprotein[accessedResource: MSH:D008075][accessDate: 05-04-2011]
alpha-Lipoprotein Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011]
alpha-Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011]
(S)-1-{(S)-2-[1-((S)-Ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
(2R,3R)-5,7-dihydroxy-2-(3,4,5-trihydroxyphenyl)-3,4-dihydro-2H-chromen-3-yl 3,4,5-trihydroxybenzoate
Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists.
A docosenoic acid that has formula C22H42O2.
An oxazinooxazine that has formula C12H23NO2.
4-(1-hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazole-5-carboxylic acid
4-(1-hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazole-5-carboxylic acid
4-(hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)-1,1'-biphenyl-4-yl]methyl}-1H-imidazole-5-carboxylic acid
A biphenylyltetrazole that has formula C24H26N6O3.
ChemIDplus:112192-04-8 "CAS Registry Number"
"A ring assembly that has formula C23H26N2O." []
Beilstein:5855538 "Beilstein Registry Number"
A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists.
A metal chloride salt with a Li(+) counterion.
A selenite salt that has formula Na2O3Se.
A benzodiazepine (sometimes colloquially "benzo"; often abbreviated "BZD") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1]
Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists.
A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists.
muscarinic acetylcholine receptor antagonist
A monoazo compound that has formula C6H12N4O2.
diazenedicarboxylic acid bis(N,N-dimethylamide)
(5S,5aR,8aR,9R)-9-(4-hydroxy-3,5-dimethoxyphenyl)-8-oxo-5,5a,6,8,8a,9-hexahydrofuro[3',4':6,7]naphtho[2,3-d][1,3]dioxol-5-yl 4,6-O-[(1R)-ethylidene]-beta-D-glucopyranoside
(8aR,9R)-9-[4-hydroxy-3,5-bis(methyloxy)phenyl]-8-oxo-5,5a,6,8,8a,9-hexahydrofuro[3',4':6,7]naphtho[2,3-d][1,3]dioxol-5-yl 4,6-O-[(1R)-ethylidene]-beta-D-glucopyranoside
1,2,5,6-Dibenzanthracene[accessedResource: C29H32O13][accessDate: 05-04-2011]
4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-beta-D-glucopyranoside)
4-demethylepipodophyllotoxin beta-D-ethylideneglucoside
A beta-D-glucoside that has formula C29H32O13.
2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium[accessedResource: C10H12O2][accessDate: 05-04-2011]
A guaiacol with an allyl chain substituted para to the hydroxy group.
Aclatonium[accessedResource: C10H12O2][accessDate: 05-04-2011]
Choline Lactate, Acetate[accessedResource: C10H12O2][accessDate: 05-04-2011]
Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-[accessedResource: C10H12O2][accessDate: 05-04-2011]
A phenylpropanoid that has formula C11H14O2.
A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET).[accessedResource: C11H14O2][accessDate: 05-04-2011]
C-11 Choline[accessedResource: C11H14O2][accessDate: 05-04-2011]
C11 Choline[accessedResource: C11H14O2][accessDate: 05-04-2011]
Carbon C 11 Choline[accessedResource: C11H14O2][accessDate: 05-04-2011]
A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S.
A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011]
Brassidic Acid[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011]
C22:1, n-9 trans[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011]
Fatty Acid 22:1 n-9 trans[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011]
Fatty Acid trans 22:1 n-9[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011]
Trans docos-13-enoic Acid[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011]
Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer.
Chloride of copper in which the metal is in the +2 oxidation state.
A 1,4-benzodiazepinone that has formula C16H13ClN2O.
A quinazoline that has formula C29H26ClFN4O4S.
1-(p-chlorobenzoyl)-5-methoxy-2-methylindole-3-acetic acid
[1-(4-chlorobenzoyl)-5-methoxy-2-methyl-1H-indol-3-yl]acetic acid
A quinazoline that has formula C22H24ClFN4O3.
A methylmercury compound that has formula CH3Hg.
3-(((2-((Diaminomethylene)amino)-4-thiazolyl)methyl)thio)-N(sup 2)-sulfamoylpropionamidine
"The complex formed between iron(III) and citrate." []
2-(4-(4-Chlorobenzoyl)phenoxy)-2-methylpropanoic acid 1-methylethyl ester
Isopropyl (4'-(p-chlorobenzoyl)-2-phenoxy-2-methyl)propionate
Isopropyl 2-(4-(4-chlorobenzoyl)phenoxy)-2-methylpropionate
"A chlorobenzophenone that has formula C20H21ClO4." []
KEGG COMPOUND:49562-28-9 "CAS Registry Number"
ChemIDplus:49562-28-9 "CAS Registry Number"
"A benzazepine that has formula C16H16ClNO3." []
ChemIDplus:67227-56-9 "CAS Registry Number"
C3 Gene[accessedResource: C3H4N2][accessDate: 05-04-2011]
C3[accessedResource: C3H4N2][accessDate: 05-04-2011]
Complement Component 3 Gene[accessedResource: C3H4N2][accessDate: 05-04-2011]
The cation resulting from protonation at the 3-position of 1H-imidazole.
This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H4N2][accessDate: 05-04-2011]
2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium[accessedResource: C10H16N4O7S][accessDate: 05-04-2011]
A glutathione derivative that has formula C10H16N4O7S.
Aclatonium[accessedResource: C10H16N4O7S][accessDate: 05-04-2011]
Choline Lactate, Acetate[accessedResource: C10H16N4O7S][accessDate: 05-04-2011]
Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-[accessedResource: C10H16N4O7S][accessDate: 05-04-2011]
6-N-butanoyl-2'-O-butanoyladenosine 3',5'-(hydrogen phosphate)
N(6),O(2')-dibutyryl adenosine 3',5'-cyclic monophosphate
N(6),O(2')-dibutyryladenosine 3',5'-monophosphate
dibutyryl adenosine 3',5'-cyclic phosphate
dibutyryl cyclic adenosine 3',5'-monophosphate
dibutyryladenosine 3',5'-cyclic monophosphate
An agent that binds to and activates excitatory amino acid receptors.
Any hormone that is responsible for controlling sexual characteristics and reproductive function.
A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors.
A steroid hormone that stimulates or controls the development and maintenance of female sex characteristics in mammals by binding to oestrogen receptors. The oestrogens are named for their importance in the oestrous cycle.
Agents, Estrogenic[accessedResource: MSH:D004967][accessDate: 05-04-2011]
Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds.
Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds.[accessedResource: MSH:D004967][accessDate: 05-04-2011]
Compounds, Estrogenic[accessedResource: MSH:D004967][accessDate: 05-04-2011]
Estrogenic Agents[accessedResource: MSH:D004967][accessDate: 05-04-2011]
Estrogenic Compounds[accessedResource: MSH:D004967][accessDate: 05-04-2011]
Estrogens[accessedResource: MSH:D004967][accessDate: 05-04-2011]
1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid
1-(2,4-dichlorbenzyl)-indazole-3-carboxylic acid
An indazole that has formula C15H10Cl2N2O2.
An organic sodium salt that has formula C3H3NaO3.
A steroid acid anion that has formula C22H29O4.
A metallotexaphyrin that has formula C52H72GdN5O14.
A drug used to treat or prevent skin disorders or for the routine care of skin.
A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug.
An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA.
(3R,4aS,5S,6S,6aS,10aS,10bR)-3-ethenyl-6-hydroxy-3,4a,7,7,10a-pentamethyl-1-oxododecahydro-1H-benzo[f]chromen-5-yl acetate
A labdane diterpenoid that has formula C22H34O5.
A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the "Feed and Breed" or "Rest and Digest" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.) The term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics.
A heme b that has formula C34H32ClFeN4O4.
Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma.
Substance that sweeten food, beverages, medications, etc.
Drug used to cause constriction of the blood vessels.
A cyclooxygenase inhibitor with specificity for cyclooxygenase 2.
A cyclooxygenase inhibitor with specificity for cyclooxygenase 1.
An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases.
(2E,4E,6Z,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance.
A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure.
An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands.
A pyridazinone that has formula C12H9ClF3N3O.
A tetracycline that has formula C22H24N2O8.
Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis.
(1S)-2-{[(1E)-1-[(3R,4R,5S)-3-(acetyloxy)-4-hydroxy-1-azabicyclo[3.1.0]hex-2-ylidene]-2-{[(1Z)-1-(hydroxymethylidene)-2-oxopropyl]amino}-2-oxoethyl]amino}-1-[(2S)-2-methyloxiran-2-yl]-2-oxoethyl 3-methoxy-5-methylnaphthalene-1-carboxylate
A naphthalene that has formula C31H33N3O11.
An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma).
2-[4-(2,2-dichlorocyclopropyl)phenoxy]-2-methylpropanoic acid
A ring assembly that has formula C13H14Cl2O3.
A mineralocorticoid that has formula C21H29FO5.
A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy.
A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors.
(2S,5R,6R)-6-({[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazol-4-yl]carbonyl}amino)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
6beta-[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazole-4-carboxamido]-2,2-dimethylpenam-3alpha-carboxylic acid
A drug that binds to and activates dopamine receptors.
A role played by the molecular entity or part thereof within a chemical context.
The role of a chemical to be an anti-inflammatory drug.
Beilstein:39914106 "Beilstein Registry Number"
ChemIDplus:54910-89-3 "CAS Registry Number"
"A benzenoid aromatic compound that has formula C17H18F3NO." []
KEGG DRUG:54910-89-3 "CAS Registry Number"
1,9-Nonanediol[accessedResource: C28H22F3N7O][accessDate: 05-04-2011]
An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research. 1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)
An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research. 1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)[accessedResource: C28H22F3N7O][accessDate: 05-04-2011]
An organofluorine compound that has formula C28H22F3N7O.
(1S,6bR,9aS,11R,11bR)-9a,11b-dimethyl-1-[(methyloxy)methyl]-3,6,9-trioxo-1,6,6b,7,8,9,9a,10,11,11b-decahydro-3H-furo[4,3,2-de]indeno[4,5-h]isochromen-11-yl acetate
An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks).
D-Phenylalaninamide substituted at the amide nitrogen by a 1-(dihydroxyboranyl)-3-methylbutyl group and at N(alpha) by a pyrazin-2-ylcarbonyl group. It is a dipeptidyl boronic acid that reversibly inhibits the 26S proteasome.
Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H25BN4O4][accessDate: 05-04-2011]
Proto-Oncogene TRE-2[accessedResource: C19H25BN4O4][accessDate: 05-04-2011]
TRE-2 Gene[accessedResource: C19H25BN4O4][accessDate: 05-04-2011]
USP6 wt Allele[accessedResource: C19H25BN4O4][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H25BN4O4][accessDate: 05-04-2011]
Ubiquitin Specific Protease 6 Gene[accessedResource: C19H25BN4O4][accessDate: 05-04-2011]
[(1S)-3-methyl-1-({(2R)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
2,2-Dimethyl-5-(2,5-xylyloxy)valeric acid
5-(2,5-dimethylphenoxy)-2,2-dimethylpentanoic acid
(3S,3aR,4S,6S,7E,10S,12R,13E,15R,15aR)-3-benzyl-6,12-dihydroxy-4,10,12-trimethyl-5-methylene-1,11-dioxo-2,3,3a,4,5,6,6a,9,10,11,12,15-dodecahydro-1H-cycloundeca[d]isoindol-15-yl acetate
A mycotoxin, which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis.
Amyloid beta (Aβ or Abeta) is a peptide of 36–43 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease. Evidence has been found that Aβ has multiple non-disease activities.[1]
A fluorobenzene compound with two nitro substituents in the 2- and 4-positions.
A quinone imine compound having amino substituents in the 2- and 5-positions and 4-aminophenyl substituents on both of the imine nitrogens.
EFABP[accessedResource: C18H18N6][accessDate: 05-04-2011]
Epidermal Fatty Acid-Binding Protein[accessedResource: C18H18N6][accessDate: 05-04-2011]
Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H18N6][accessDate: 05-04-2011]
FABP5[accessedResource: C18H18N6][accessDate: 05-04-2011]
Fatty Acid Binding Protein 5[accessedResource: C18H18N6][accessDate: 05-04-2011]
PAFABP[accessedResource: C18H18N6][accessDate: 05-04-2011]
Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group.
A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group.
Polyoxyethylene (20) sorbitan monolaurate
polyoxyethylene (20) sorbitan monostearate
A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl.
N-(1-naphthyl)ethylenediamine dihydrochloride
N-(1-Napthyl)ethylene diamine dihydrochloride
N-(1-naphthyl)ethane-1,2-diaminium dichloride
N-1-Naphthalenyl-1,2-ethanediamine dihydrochloride
(7,7-dimethyl-2-oxobicyclo[2.2.1]hept-1-yl)methanesulfonic acid
A compound composed of a central piperidine structure with hydroxy and p-chlorophenyl substituents at position 4; and an N-linked p-fluorobutyrophenone moiety.
A hydroxypiperidine that has formula C21H23ClFNO2.
A haloalkane comprising ethane having three flouro substituents at the 1-position as well as bromo- and chloro substituents at the 2-position.
A haloalkane that has formula C2HBrClF3.
C6 Vertebra[accessedResource: C6Cl6][accessDate: 05-04-2011]
The sixth of the seven cervical vertebrae.[accessedResource: C6Cl6][accessDate: 05-04-2011]
(+-)-ethyl methyl 4-(2,3-dichlorophenyl)-1,4-dihydro-2,6-dimethyl-3,5-pyridinedicarboxylate
3-ethyl 5-methyl 4-(2,3-dichlorophenyl)-2,6-dimethyl-1,4-dihydro-3,5-pyridinedicarboxylate
4-(2,3-dichlorophenyl)-1,4-dihydro-2,6-dimethyl-3,5-pyridinedicarboxylic acid ethyl methyl ester
ethyl methyl 4-(2,3-dichlorophenyl)-2,6-dimethyl-1,4-dihydropyridine-3,5-dicarboxylate
(2R-trans)-2-(3,4-Dihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-3,5,7-triol monohydrate
ChemIDplus:88191-48-4 "CAS Registry Number"
A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction.
C58 Mouse[accessedResource: C58H73N13O21S2][accessDate: 05-04-2011]
C58[accessedResource: C58H73N13O21S2][accessDate: 05-04-2011]
4-(5H-dibenzo[a,d][7]annulen-5-ylidene)-1-methylpiperidine hydrochloride
4-(5H-dibenzo[a,d]cyclohepten-5-ylidene)-1-methylpiperidine hydrochloride
4-(5H-dibenzo[a,d]cyclohepten-5-ylidine)-methylpiperidine hydrochloride
C21[accessedResource: C21H22ClN][accessDate: 05-04-2011]
DC42[accessedResource: C21H22ClN][accessDate: 05-04-2011]
FLJ12894[accessedResource: C21H22ClN][accessDate: 05-04-2011]
Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H22ClN][accessDate: 05-04-2011]
IRA1[accessedResource: C21H22ClN][accessDate: 05-04-2011]
TBL1XR1 wt Allele[accessedResource: C21H22ClN][accessDate: 05-04-2011]
TBLR1[accessedResource: C21H22ClN][accessDate: 05-04-2011]
The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate.
Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H22ClN][accessDate: 05-04-2011]
Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H22ClN][accessDate: 05-04-2011]
cyproheptadine hydrochloride (anhydrous)
1-chloro-2,2,2-trifluoroethyl difluoromethyl ether
An organofluorine compound that has formula C3H2ClF5O.
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
A retinoic acid that has formula C20H28O2.
bis(monoacylglycerol) hydrogen phosphate
L-2-Amino-2-methyl-3-(3,4-dihydroxyphenyl)propionic acid
(-)-(1S,3s,5R,6R,7S)-6,7-epoxy-8-methyl-3-[(S)-tropoyloxy]tropanium bromide
(S)-6beta,7beta-epoxy-8-methyl-3alpha-(-)-tropoyloxy-1alphaH,5alphaH-tromanium bromide
KEGG DRUG:155-41-9 "CAS Registry Number"
ChemIDplus:155-41-9 "CAS Registry Number"
"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide." []
ChemIDplus:7783-20-2 "CAS Registry Number"
Reaxys:11343144 "Reaxys Registry Number"
KEGG DRUG:7783-20-2 "CAS Registry Number"
"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils." []
ChemIDplus:7722-76-1 "CAS Registry Number"
Reaxys:11461082 "Reaxys Registry Number"
"The ammonium salt of phosphoric acid (molar ratio 1:1)." []
Reaxys:13203931 "Reaxys Registry Number"
ChemIDplus:6484-52-2 "CAS Registry Number"
ChemIDplus:7647-17-8 "CAS Registry Number"
NIST Chemistry WebBook:7647-17-8 "CAS Registry Number"
"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions." []
3-Carboxamido-4-hydroxy-alpha-((1-methyl-3-phenylpropylamino)methyl)benzyl alcohol
A substance capable of undergoing rapid and highly exothermic decomposition.
2-Fluoroadenine arabinoside 5'-monophosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
ChemIDplus:75607-67-9 "CAS Registry Number"
"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator" []
KEGG DRUG:75607-67-9 "CAS Registry Number"
KEGG COMPOUND:53230-10-7 "CAS Registry Number"
ChemIDplus:53230-10-7 "CAS Registry Number"
"A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown." []
2,3:4,5-bis-O-(1-methylethylidene)-beta-D-fructopyranose sulfamate
2,3:4,5-di-O-isopropylidene-beta-D-fructopyranose sulfamate
KEGG COMPOUND:123948-87-8 "CAS Registry Number"
"A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks." []
ChemIDplus:123948-87-8 "CAS Registry Number"
(16R,S)-methyl-18,18,19,19-tetradehydro-6a-carbaprostaglandin I2
(5E)-5-[(3aS,4R,5R,6aS)-5-hydroxy-4-[(1E,3S)-3-hydroxy-4-methyloct-1-en-6-yn-1-yl]hexahydropentalen-2(1H)-ylidene]pentanoic acid
(1R,7aR)-7-({[(2S,3S)-2,3-dihydroxy-2-isopropylbutanoyl]oxy}methyl)-4-oxido-2,3,5,7a-tetrahydro-1H-pyrrolizin-1-yl (2E)-2-methylbut-2-enoate
4-oxo-4-{[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxypyrano[4,3-j][1,2]benzodioxepin-10-yl]oxy}butanoic acid
butanedioic acid, 1-[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-decahydro-3,6,9-trimethyl-3,12-epoxy-12H-pyrano[4,3-j]-1,2-benzodioxepin-10-yl] ester
(5Z)-7-{(1R,2R,3R,5S)-3,5-dihydroxy-2-[(3R)-3-hydroxy-5-phenylpentyl]cyclopentyl}hept-5-enoic acid
ethyl (2Z)-2-chloro-3-[2-chloro-5-(1,3-dioxo-1,3,4,5,6,7-hexahydro-2H-isoindol-2-yl)phenyl]acrylate
ethyl (2Z)-2-chloro-3-[2-chloro-5-(1,3-dioxo-1,3,4,5,6,7-hexahydro-2H-isoindol-2-yl)phenyl]prop-2-enoate
1,2,3,4-Tetrahydro-2-methyl-1,4-dioxo-2-naphthalenesulfonic acid sodium salt
2,3-Dihydro-2-methyl-1,4-naphthoquinone-2-sulfonate sodium
2-Methyl-1,4-naphthoquinone sodium bisulfite
2-Methyl-1,4-naphthoquinone sodium hydrogen sulfite
2-Methylnaphthoquinone sodium hydrogen sulfite
sodium 2-methyl-1,4-dioxo-1,2,3,4-tetrahydronaphthalene-2-sulfonate
4,4'-(2,9-dimethyl-1,10-phenanthroline-4,7-diyl)dibenzenesulfonic acid
[(4aR,8aS)-4-(4-amino-6,7-dimethoxyquinazolin-2-yl)octahydroquinoxalin-1(2H)-yl](2-furyl)methanone hydrochloride
sodium dioxido(dioxo)tungsten--water (1/2)
3-(2-Pyridyl)-5,6-bis(4-sulfophenyl)-1,2,4-triazine, monosodium salt
Sodium (3-(pyridin-2-yl)-1,2,4-triazine-5,6-diyl)bis(benzene-4,4'-sulphonate)
hydrogen sodium 4,4'-[3-(pyridin-2-yl)-1,2,4-triazine-5,6-diyl]dibenzenesulfonate
sodium 4-[3-pyridin-2-yl-5-(4-sulfophenyl)-1,2,4-triazin-6-yl]benzenesulfonate
3-hydroxy-9beta,13alpha-dimethyl-2-oxo-24,25,26-trinoroleana-1(10),3,5,7-tetraen-29-oic acid
N(6)-acetimidoyl-L-lysine dihydrochloride
(1-{[(5S)-5-ammonio-5-carboxypentyl]amino}ethylidene)ammonium dichloride
L-N(6)-(1-iminoethyl)lysine dihydrochloride
N(6)-ethanimidoyl-L-lysine dihydrochloride
7-chloro-4-hydroxyquinoline-2-carboxylic acid
N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
1-phenyl-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide
3-allyl-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide
3-allyl-7,8-dihydroxy-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide
N-allyl-7,8-dihydroxy-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepine hydrobromide
N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
6-chloro-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide
6-chloro-7,8-dihydroxy-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine hydrobromide
6-chloro-7,8-dihydroxy-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide
N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
3-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide
3-allyl-6-chloro-7,8-dihydroxy-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide
6-chloro-1-(3-methylphenyl)-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide
6-chloro-7,8-dihydroxy-1-(3-methylphenyl)-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide
4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate
4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline di[(2Z)-but-2-enedioate]
3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride
3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol monohydrochloride
4-(3-chlorophenyl)-1-(2-hydroxy-3,3-diphenylpropyl)piperazin-1-ium chloride
(1S)-N-[(7-bromo-2,3-dioxo-1,2,3,4-tetrahydroquinoxalin-5-yl)methyl]-1-phosphonoethanaminium chloride
[(1S)-1-{[(7-bromo-2,3-dioxo-1,2,3,4-tetrahydroquinoxalin-5-yl)methyl]amino}ethyl]phosphonic acid hydrochloride
(1'-methyl-6,7-dihydro-5H-spiro[furo[2,3-f]indole-3,4'-piperidin]-5-yl)[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]methanone hydrochloride
1'-methyl-5-{[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl}-6,7-dihydro-5H-spiro[furo[2,3-f]indole-3,4'-piperidinium] chloride
Heloderma suspectum gila monster exendin-4
(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydro-1H-isochromene-5,6-diol hydrochloride
3-(1'-Adamantyl)-1-aminomethyl-3,4-dihydro-5,6-dihydroxy-1H-2-benzopyran hydrochloride
[(1R,3S)-3-(adamantan-1-yl)-5,6-dihydroxy-3,4-dihydro-1H-isochromen-1-yl]methanaminium chloride
1-(4-Amino-5-chloro-2-methoxyphenyl)-3-(1-(2-methylsulphonylamino)ethyl-4-piperidinyl)-1-propanone hydrochloride
N-{2-[4-(3-{4-amino-5-chloro-2-[(3,5-dimethoxybenzyl)oxy]phenyl}-3-oxopropyl)piperidin-1-yl]ethyl}methanesulfonamide hydrochloride
1-{2-[bis(4-fluorophenyl)methoxy]ethyl}-4-(3-phenylpropyl)piperazine dihydrochloride
1-{2-[bis(4-fluorophenyl)methoxy]ethyl}-4-(3-phenylpropyl)piperazinediium dichloride
1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride
1-[2-(diphenylmethoxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride
1-[2-(diphenylmethoxy)ethyl]-4-(3-phenylpropyl)piperazinediium dichloride
4-fluoro-N-\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\}benzamide hydrochloride
1-((4-Fluorobenzoylamino)ethyl)-4-(7-methoxy-1-naphthyl)piperazine hydrochloride
4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride
8-bromoguanosine 3',5'-cyclic phosphate sodium
8-bromoguanosine 3',5'-cyclic phosphate sodium salt
sodium 8-bromoguanosine 3',5'-cyclic phosphate
4-[2-methoxy-5-({[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl}amino)phenyl]-1-methylpiperazin-1-ium chloride
N-[4-methoxy-3-(4-methylpiperazin-1-yl)phenyl]-2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-carboxamide hydrochloride
(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
(1S,2R)-5-methoxy-1-methyl-N-propyl-1,2,3,4-tetrahydronaphthalen-2-amine hydrochloride
(1S,2R)-5-methoxy-1-methyl-N-propyl-1,2,3,4-tetrahydronaphthalen-2-aminium chloride
cis-(+)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
1-(2-Methoxyphenyl)-4-(4-(2-phthalimido)butyl)piperazine hydrobromide
1-[4-(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)butyl]-4-(2-methoxyphenyl)piperazin-1-ium bromide
2-{4-[4-(2-methoxyphenyl)piperazin-1-yl]butyl}-1H-isoindole-1,3(2H)-dione hydrobromide
2-\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\}tetralin-7-ol maleate
2-{[(2E)-3-iodoallyl](propyl)amino}tetralin-7-ol maleate
7-hydroxy-N-[(2E)-3-iodoprop-2-en-1-yl]-N-propyl-1,2,3,4-tetrahydronaphthalen-2-aminium (2Z)-3-carboxyacrylate
7-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}-5,6,7,8-tetrahydronaphthalen-2-ol (2Z)-but-2-enedioate
7-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}-5,6,7,8-tetrahydronaphthalen-2-ol maleate
(2R,3S)-3-(6-amino-9H-purin-9-yl)nonan-2-ol hydrochloride
(2R,3S)-3-(adenin-9-yl)-2-nonanol hydrochloride
(2R,3S)-9-(2-hydroxy-3-nonyl)adenine hydrochloride
(R,S)-6-amino-beta-hexyl-alpha-methyl-9H-purine-9-ethanol hydrochloride
erythro-9-(2-hydroxy-3-nonyl)adenine hydrochloride
(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl 3,5-dimethylbenzoate
1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate
1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine (2Z)-but-2-enedioate
1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidinium (2Z)-3-carboxyacrylate
2-[5-(nonyloxy)-1H-indol-3-yl]ethanamine ethanedioate
2-[5-(nonyloxy)-1H-indol-3-yl]ethanamine oxalate
2-[5-(nonyloxy)-1H-indol-3-yl]ethanaminium hydrogen oxalate
3-(2-aminoethyl)-5-nonyloxyindole oxalate
2-(1H-imidazol-4-yl)ethyl carbamimidothioate dihydrobromide
S-{2-[1H-imidazol-4-yl]ethyl}isothiourea dihydrobromide
2-methyl-6-(phenylethynyl)pyridine hydrochloride
2-methyl-6-(phenylethynyl)pyridinium chloride
6-methyl-2-(phenylethynyl)pyridine hydrochloride
6-methyl-2-(phenylethynyl)pyridinium chloride
2-(4-methylpiperazin-1-yl)quinoline di[(2Z)-but-2-enedioate]
2-(4-methylpiperazin-1-yl)quinoline dimaleate
2-(4-methylpiperazin-1-yl)quinoline maleate
3-(1H-imidazol-4-yl)propyl N-(4-chlorobenzyl)carbamimidothioate dihydrobromide
DL-serine 2-(2,3,4-trihydroxybenzyl)hydrazide
DL-serine 2-[(2,3,4-trihydroxyphenyl)methyl]hydrazide
(-)-alpha-4-(4-Fluorophenyl)-3-(1,3-benzdioxolyl-(3))-oxymethyl piperidine maleate
(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine (2Z)-but-2-enedioate
(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine maleate
(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidinium (2Z)-3-carboxyacrylate
trans-(-)-3-((1,3-Benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine maleate
1-[4-(5-carboxy-1H-indol-3-yl)butyl]-4-phenyl-1,2,3,6-tetrahydropyridinium chloride
3-[4-(4-phenyl-3,6-dihydropyridin-1(2H)-yl)butyl]-1H-indole-5-carboxylic acid hydrochloride
1-(10,11-Dihydro-8-(methylthio)dibenzo(b,f)thiepin-10-yl)-4-methylpiperazine maleate
1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine (2Z)-but-2-enedioate
1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine maleate
1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazinediium (2Z)-but-2-enedioate
1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine (2Z)-but-2-enedioate
1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine maleate
1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazinediium (2Z)-but-2-enedioate
8-Methylthio-10-(4-methylpiperazino)-10,11-dihydrodibenzo(b,f)thiepin maleate
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid
4-{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino}benzoic acid
8-Bromoadenosine 3',5'-cyclic monophosphate
8-bromoadenosine 3',5'-(hydrogen phosphate)
Cyclic 8-bromoadenosine 3',5'-monophosphate
5-Fluoro-2-methyl-1-((Z)-p-(methylsulfonyl)benzylidene)indene-3-acetic acid
cis-5-Fluoro-2-methyl-1-(p-methylsulfonylbenzylidenyl)indene-3-acetic acid
{(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfonyl)benzylidene]-1H-inden-3-yl}acetic acid
1,2-Dimethyl-3,6-epoxyperhydrophthalic anhydride
exo-1,2-cis-Dimethyl-3,6-epoxyhexahydrophthalic anhydride
(((8-beta)-1,6-Dimethylergolin-8-yl)methyl)carbamic acid benzyl ester
(((8-beta)-1,6-Dimethylergolin-8-yl)methyl)carbamic acid phenylmethyl ester
(+)-N-(Carboxy)-1-methyl-9,10-dihydrolysergamine benzyl ester
D-8-beta-((Carboxyamino)methyl)-1,6-dimethylergoline benzyl ester
benzyl {[(8alpha)-1,6-dimethylergolin-8-yl]methyl}carbamate
Methyl 6,8-dideoxy-6-trans-(1-methyl-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-D-erythro-alpha-D-galacto-octopyranoside
methyl 6,8-dideoxy-6-({[(4R)-1-methyl-4-propylpyrrolidin-2-yl]carbonyl}amino)-1-thio-D-erythro-alpha-D-galacto-octopyranoside
5S,6R,15S-Trihydroxy-7E,9E,11Z,13E-eicosatetraenoic acid
A biphenylyltetrazole that has formula C22H23ClN6O.
A biphenylyltetrazole where a 1,1'-biphenyl group is attached at the 5-position and has an additional trisubstituted imidazol-1-ylmethyl group at the 4'-position
A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H23ClN6O][accessDate: 05-04-2011]
Brassidic Acid[accessedResource: C22H23ClN6O][accessDate: 05-04-2011]
C22:1, n-9 trans[accessedResource: C22H23ClN6O][accessDate: 05-04-2011]
Fatty Acid 22:1 n-9 trans[accessedResource: C22H23ClN6O][accessDate: 05-04-2011]
Fatty Acid trans 22:1 n-9[accessedResource: C22H23ClN6O][accessDate: 05-04-2011]
Trans docos-13-enoic Acid[accessedResource: C22H23ClN6O][accessDate: 05-04-2011]
O,O-dimethyl S-(1,2-bis(ethoxycarbonyl)ethyl)
O,O-dimethyl S-(1,2-dicarbethoxyethyl) dithiophosphate
O,O-dimethyl S-(1,2-dicarbethoxyethyl)phosphorodithioate
O,O-dimethyl S-1,2-di(ethoxycarbamyl)ethyl
O,O-dimethyldithiophosphate diethylmercaptosuccinate
[(dimethoxyphosphinothioyl)thio]butanedioic acid diethyl ester
diethyl (dimethoxyphosphinothioylthio)succinate
diethyl 2-[(dimethoxyphosphorothioyl)sulfanyl]butanedioate
A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.[accessedResource: C14H19N3S][accessDate: 05-04-2011]
An ethylenediamine derivative that has formula C14H19N3S.
C14 Urea[accessedResource: C14H19N3S][accessDate: 05-04-2011]
Pytest[accessedResource: C14H19N3S][accessDate: 05-04-2011]
UREA, C-14[accessedResource: C14H19N3S][accessDate: 05-04-2011]
Urea C-14[accessedResource: C14H19N3S][accessDate: 05-04-2011]
Acoustic[accessedResource: C16H15Cl3O2][accessDate: 05-04-2011]
An organochlorine insecticide that has formula C16H15Cl3O2.
A propanolamine that has formula C15H25NO3.
C15[accessedResource: C15H25NO3][accessDate: 05-04-2011]
Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H25NO3][accessDate: 05-04-2011]
Onzin[accessedResource: C15H25NO3][accessDate: 05-04-2011]
PLAC8 wt Allele[accessedResource: C15H25NO3][accessDate: 05-04-2011]
Placenta-Specific 8 wt Allele[accessedResource: C15H25NO3][accessDate: 05-04-2011]
An imidazole antifungal agent, commonly applied topically (to the skin) or mucus membranes to cure fungal infections. It inhibits the synthesis of ergosterol, a critical component of fungal cell membranes.
EFABP[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011]
Epidermal Fatty Acid-Binding Protein[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011]
Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011]
FABP5[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011]
Fatty Acid Binding Protein 5[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011]
PAFABP[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011]
Retronecine cyclic 2,3-dihydroxy-2,3,4-trimethylglutarate
A formamide compound having an N-methyl substituent.
(+)-(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(+)-2-(6-Methoxy-2-naphthyl)propionic acid
(+)-2-(Methoxy-2-naphthyl)-propionic acid
(2S)-2-(6-methoxynaphthalen-2-yl)propanoic acid
(S)-(+)-2-(6-Methoxy-2-naphthyl)propionic acid
(S)-2-(6-Methoxy-2-naphthyl)propanoic acid
(S)-2-(6-Methoxy-2-naphthyl)propionic acid
(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
A dihydropyridine that has formula C17H18N2O6.
dimethyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate
2,6-dimethyl-4-(3'-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylic acid 3-beta-methoxyethyl ester 5-isopropyl ester
2-methoxyethyl propan-2-yl 2,6-dimethyl-4-(3-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate
isopropyl 2-methoxyethyl 1,4-dihydro-2,6-dimethyl-4-(3-nitrophenyl)-3,5-pyridinedicarboxylate
isopropyl 2-methoxyethyl 1,4-dihydro-2,6-dimethyl-4-(m-nitrophenyl)-3,5-pyridinedicarboxylate
A phenylalanine derivative that has formula C20H18ClNO6.
A benzodiazepine that has formula C17H20N4S.
1-Cyclohexene-1-carboxylic acid, 4-(acetylamino)-5-amino-3-(1-ethylpropoxy)-, ethyl ester, (3R-(3alpha,4beta,5alpha))-
A cyclohexenecarboxylate ester that has formula C16H28N2O4.
Ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(1-ethylpropoxy)-1-cyclohexene-1-carboxylate
ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(pentan-3-yloxy)cyclohex-1-ene-1-carboxylate
A 1,4-benzodiazepinone that has formula C15H11ClN2O2.
C15[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011]
Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011]
Onzin[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011]
PLAC8 wt Allele[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011]
Placenta-Specific 8 wt Allele[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011]
4,5-alpha-Epoxy-6-beta-hydroxygermacra-1(10),11(13)-dien-12-oic acid gamma-lactone
A sesquiterpene lactone and active principle of feverfew.
C15[accessedResource: C15H20O3][accessDate: 05-04-2011]
Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H20O3][accessDate: 05-04-2011]
Onzin[accessedResource: C15H20O3][accessDate: 05-04-2011]
PLAC8 wt Allele[accessedResource: C15H20O3][accessDate: 05-04-2011]
Placenta-Specific 8 wt Allele[accessedResource: C15H20O3][accessDate: 05-04-2011]
(2S)-2-amino-3-methyl-3-sulfanylbutanoic acid
(S)-2-amino-3-mercapto-3-methylbutanoic acid
(8beta)-8-[(methylsulfanyl)methyl]-6-propylergolin-6-ium methanesulfonate
(8beta)-8-[(methylsulfanyl)methyl]-6-propylergoline methanesulfonate
A barbiturate that has formula C12H12N2O3.
Barbituric acid substituted at C-5 by ethyl and phenyl groups.
(-)-m-Hydroxy-alpha-(methylaminomethyl)benzyl alcohol
A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability.[accessedResource: C9H13NO2][accessDate: 05-04-2011]
Activation of Membrane Attack Complex[accessedResource: C9H13NO2][accessDate: 05-04-2011]
Benzenemethanol, 3-hydroxy-.alpha.-[(methylamino)methyl]-, (R)-
Benzyl alcohol, m-hydroxy-alpha-((methylamino)methyl)-, (-)-
1,9-Nonanediol[accessedResource: C28H29F2N3O][accessDate: 05-04-2011]
A heteroarylpiperidine that has formula C28H29F2N3O.
An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research. 1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)[accessedResource: C28H29F2N3O][accessDate: 05-04-2011]
A thiazolidenedione that has formula C19H20N2O3S.
A glucocorticoid that has formula C21H28O5.
Chloro-3 (N-methylpiperazinyl-3 propyl)-10 phenothiazine
A dibenzothiazepine that has formula C21H25N3O2S.
C21[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
DC42[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
FLJ12894[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
IRA1[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
TBL1XR1 wt Allele[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
TBLR1[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H25N3O2S][accessDate: 05-04-2011]
A benzothiophene that has formula C28H27NO4S.
A butenolide that has formula C17H14O4S.
(+)-cis-(1S,4S)-1-methylamino-4-(3,4-dichlorophenyl)tetralin hydrochloride
(1S,4S)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-amine hydrochloride
(1S,4S)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-aminium chloride
(1S-cis)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-amine hydrochloride
An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups.
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
A chromosome band present on 11q[accessedResource: C25H38O5][accessDate: 05-04-2011]
A fatty acid ester comprising a dihydroxyheptanoic acid unit condensed into a lactone; a partially reduced naphthalene structure; and a 2,2-dimethylbutyric acyl substituent at C17. It is used as a cholesterol-lowering and anti-cardiovascular disease drug.
Simvastatin (INN) ( /ˈsɪmvəstætɨn/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals.
A N-acylglucosamine that has formula C8H15N3O7.
An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals.
2-Hydroxy-5-((4-((2-pyridinylamino)sulfonyl)phenyl)azo)benzoic acid
2-Hydroxy-5-[4-(pyridin-2-ylsulfamoyl)-phenylazo]-benzoic acid
2-hydroxy-5-{[4-(pyridin-2-ylsulfamoyl)phenyl]diazenyl}benzoic acid
5-((p-(2-Pyridylsulfamoyl)phenyl)azo)salicylic acid
5-(4-(2-Pyridylsulfamoyl)phenylazo)-2-hydroxybenzoic acid
5-(p-(2-Pyridylsulfamyl)phenylazo)salicylic acid
(Z)-5-Fluoro-2-methyl-1-((p-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid
A sulfoxide that has formula C20H17FO3S.
cis-5-Fluoro-2-methyl-1-((4-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid
cis-5-Fluoro-2-methyl-1-((p-methylsulfinyl)benzylidene)indene-3-acetic acid
{(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1H-inden-3-yl}acetic acid
(3S,3aR,4S,6S,6aR,7S,8S,9bS)-6-(acetyloxy)-4-(butanoyloxy)-3,3a-dihydroxy-3,6,9-trimethyl-8-{[(2Z)-2-methylbut-2-enoyl]oxy}-2-oxo-2,3,3a,4,5,6,6a,7,8,9b-decahydroazuleno[4,5-b]furan-7-yl octanoate
(3S,3aR,4S,6S,6aR,7S,8S,9bS)-6-(acetyloxy)-4-(butanoyloxy)-3,3a-dihydroxy-3,6-dimethyl-8-{[(3Z)-3-methylpent-3-enoyl]oxy}-2-oxo-2,3,3a,4,5,6,6a,7,8,9b-decahydroazuleno[4,5-b]furan-7-yl octanoate
A hexa-oxygenated 6,7-guaianolide isolated fron the roots of Thapsia garganica L., Apiaceae. A potent skin irritant, it is used in traditional medicine as a counter-irritant. Thapsigargin inhibits Ca(2+)-transporting ATPase mediated uptake of calcium ions into sarcoplasmic reticulum and is used in experimentation examining the impacts of increasing cytosolic calcium concentrations.
ABDOMINAL CRAMPS[accessedResource: C34H50O12][accessDate: 05-04-2011]
Abdominal Cramp[accessedResource: C34H50O12][accessDate: 05-04-2011]
An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen.
An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen.[accessedResource: C34H50O12][accessDate: 05-04-2011]
CRAMPS, ABDOMINAL[accessedResource: C34H50O12][accessDate: 05-04-2011]
octanoic acid {3S-[3alpha,3abeta,4alpha,6beta,6abeta,7beta,8alpha(Z),9balpha]}-6-(acetoxy)-2,3,3a,4,5,6,6a,7,8,9b-decahydro-3,3a-dihydroxy-3,6,9-trimethyl-8-[(2-methyl-1-oxo-2-butenyl)oxy]-2-oxo-4-(1-oxobutoxy)-azuleno[4,5-b]furan-7-yl ester
A phenothiazine derivative having a methylsulfanyl subsitituent at the 2-position and a (1-methylpiperidin-2-yl)ethyl] group at the N-10 position.
A phenothiazine that has formula C21H26N2S2.
(22S,25S)-5alpha-spirosolan-3beta-yl beta-D-glucopyranosyl-(1->2)-[beta-D-xylopyranosyl-(1->3)]-beta-D-glucopyranosyl-(1->4)-beta-D-galactopyranoside
(3beta,5alpha,22beta,25S)-spirosolan-3-yl O-beta-D-glucopyranosyl-(1->2)-O-(beta-D-xylopyranosyl)-(1->3)-O-beta-D-glucopyranosyl-(1->4)-beta-D-galactopyranoside
METHYL 2-[4-METHOXY-6-METHYL-1,3,5-TRAZIN-2-YL(METHYL)CARBAMOYLSULFAMOYL]BENZOATE
methyl 2-[({[(4-methoxy-6-methyl-1,3,5-triazin-2-yl)(methyl)amino]carbonyl}amino)sulfonyl]benzoate
methyl 2-{[(4-methoxy-6-methyl-1,3,5-triazin-2-yl)(methyl)carbamoyl]sulfamoyl}benzoate
CP25[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
HHO.C8[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
HOX3C[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
HOXC6[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox Protein 3C[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox Protein C6[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox Protein C8[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox Protein CP25[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox Protein HHO.C8[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox Protein HOXC6[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox Protein Hox-3C[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox Protein Hox-C6[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H15NaO2][accessDate: 05-04-2011]
ChemIDplus:52-53-9 "CAS Registry Number"
Beilstein:2825000 "Beilstein Registry Number"
"An L-type calcium channel blocker of the phenylalkylamine class." []
KEGG COMPOUND:52-53-9 "CAS Registry Number"
A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite growth/propagation in vitro as part of a immortal cell line.
A cell found in the embryo before the formation of all the gem layers is complete.
hair follicle dermal papilla cell
A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling.
skeletal muscle myoblast
A myoblast that differentiates into skeletal muscle fibers.
A neuron that releases dopamine as a neurotransmitter.
A immature or mature cell in the lineage leading to and including erythrocytes.
lung fibroblast
A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
A plant environment involving the application of an abiotic or biotic treatment.
Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application.
The treatment involving study type in which plants were grown in growth chambers.
A process in which an organism or part of an organism participates towards the generation of offspring.
Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions.
The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together.
replaces previous MeSH derived class, inflammation.
The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
AGING BIOL[accessedResource: MSH:D000375][accessDate: 05-04-2011]
Aging, Biological[accessedResource: MSH:D000375][accessDate: 05-04-2011]
BIOL AGING[accessedResource: MSH:D000375][accessDate: 05-04-2011]
Biological Aging[accessedResource: MSH:D000375][accessDate: 05-04-2011]
Senescence[accessedResource: MSH:D000375][accessDate: 05-04-2011]
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.[accessedResource: MSH:D000375][accessDate: 05-04-2011]
The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.
A neurological process comprising the series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors.
Acceptance Process[accessedResource: MSH:D001519][accessDate: 05-04-2011]
Acceptance Processes[accessedResource: MSH:D001519][accessDate: 05-04-2011]
Behaviors[accessedResource: MSH:D001519][accessDate: 05-04-2011]
Fixed action pattern courtship behaviour in Drosophila. Forager behaviour in honey bees.
I am trying to determine the difference between a process and a behaviour. Is behaviour dancing any different from the process dancing?
Process, Acceptance[accessedResource: MSH:D001519][accessDate: 05-04-2011]
Processes, Acceptance[accessedResource: MSH:D001519][accessDate: 05-04-2011]
The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. E.g. Fixed action pattern courtship behaviour in Drosophila. Forager behaviour in honey bees.
The observable response a person makes to any situation.
The observable response a person makes to any situation.[accessedResource: MSH:D001519][accessDate: 05-04-2011]
The activities of living organisms that support life in single- or multi-cellular organisms from their origin through the progression of life.
The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus.
Replaced previous EFO class "damage response" (child of "measurement")
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lithium (Li+) ion stimulus. Lithium salts are used as mood stabilizing drugs.
Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Some protein processing events may be included when they are required to form an active form of a product from an inactive precursor form.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an isoquinoline alkaloid stimulus. An isoquinoline alkaloid is any member of a group of compounds with the heterocyclic ring structure of benzo(c)pyridine which is a structure characteristic of the group of opium alkaloids.
The process in which double-stranded RNAs silence cognate genes. Involves posttranscriptional gene inactivation ('silencing') both of transgenes or dsRNA introduced into a germline, and of the host gene(s) homologous to the transgenes or dsRNA. This silencing is triggered by the introduction of transgenes or double-stranded RNA (dsRNA), and can occur through a specific decrease in the level of mRNA, or by negative regulation of translation, of both host genes and transgenes.
Combining with estrogen and transmitting the signal within the cell to trigger a change in cell activity or function.
A readily reversible suspension of sensorimotor interaction with the environment, usually associated with recumbency and immobility.
A readily reversible suspension of sensorimotor interaction with the environment, usually associated with recumbency and immobility.[accessedResource: MSH:D012890][accessDate: 05-04-2011]
Sleep, Slow Wave[accessedResource: MSH:D012890][accessDate: 05-04-2011]
Sleep, Slow-Wave[accessedResource: MSH:D012890][accessDate: 05-04-2011]
Slow-Wave Sleep[accessedResource: MSH:D012890][accessDate: 05-04-2011]
response to methotrexate
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methotrexate (formerly amethopterin) stimulus. Methotrexate is 4-amino-10-methylformic acid, a folic acid analogue that is a potent competitive inhibitor of dihydrofolate reductase. Methotrexate is used in the treatment of cancer, immune diseases, ectopic pregnancy and medical terminations.
Interacting selectively and non-covalently with a progesterone receptor.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diuretic stimulus. A diuretic is an agent that promotes the excretion of urine through its effects on kidney function.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methylphenidate stimulus. Methylphenidate is a psychostimulant drug.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gemcitabine stimulus. Gemcitabine is a 2'-deoxycytidine having geminal fluoro substituents in the 2'-position, and is used as a drug in the treatment of various carcinomas.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a statin stimulus, a compound that inhibits HMG-CoA reductases.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lapatinib stimulus. Lapatinib is a drug used to treat solid tumours.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 5-fluorouracil stimulus. 5-fluorouracil is a pyrimidine analogue used in treatment of cancer.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticonvulsant stimulus, a drug used to prevent seizures or reduce their severity.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to iloperidone, an atypical antipsychotic used in the treatment of schizophrenia.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to ximelagatran stimulus. Ximelagatran is a direct thrombin inhibitor and anticoagulant drug.
Receiving a signal and transmitting the signal in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.
The process of TOOTH formation. It is divided into several stages including: the dental lamina stage, the bud stage, the cap stage, and the bell stage. Odontogenesis includes the production of tooth enamel ( AMELOGENESIS), dentin ( DENTINOGENESIS), and dental cementum ( CEMENTOGENESIS).
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet aggegration inhibitor.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease.
The tooth development process in which the teeth enter the mouth and become visible.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism.
The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process.
The series of events required to receive a bitter taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a antocoagulant stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aromatase inhbitor stimulus. Anastrozole, exemestane, and letrozole are aromatase inhibitors used as adjuvant endocrine therapies.
response to platelet aggregation inhibitor
response to reverse transcriptase inhibitor
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reverse transcriptase inhibtor, a class of drugs used in treatment of HIV/AIDS, e.g. nivirapene.
The attachment of PLATELETSÂ to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cisplatin stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carboplatin stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimetabolite stimulus. An antimetabolite is a substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 5'-fluoro-2-deoxyuridine stimulus.'
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytarabine stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antipsychotic drug stimulus. Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a olanzapine stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a perphenazine stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a quetiapine stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a risperdone stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ziprasidone stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a clozapine stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with a bronchodilator agent. (CHEBI:35523 bronchodilator agent)
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an acetaminophen stimulus. acetaminophen is a non narcotic analgesic, a non steroidal anti inflammatory and an anti pyretic.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paclitaxel, an antineoplastic agent derived from yew. Ref CHEBI:45863.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a candesartan stimulus. Candesartan is an angiotensin II receptor antagonist used mainly for the treatment of hypertension. CHEBI:3347
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fenofibrate stimulus. Fenofibrates are a class of fibrate drugs which is mainly used to reduce cholesterol levels in patients at risk of cardiovascular disease. Like other fibrates, it reduces both low-density lipoprotein (LDL) and very low density lipoprotein (VLDL) levels, as well as increasing high-density lipoprotein (HDL) levels and reducing triglycerides level. It is used alone or in conjunction with statins in the treatment of hypercholesterolemia and hypertriglyceridemia. CHEBI:5001
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metformin stimulus. Metformin is an oral antidiabetic drug in the biguanide class. It is the first-line drug of choice for the treatment of type 2 diabetes, in particular, in overweight and obese people and those with normal kidney function. Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metformin stimulus. Metformin is an oral antidiabetic drug in the biguanide class. It is the first-line drug of choice for the treatment of type 2 diabetes, in particular, in overweight and obese people and those with normal kidney function.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ribavirin stilumulus. Ribavirin is a drug used to treat hepatis C and other viral diseases.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tamsulosin stimulus. Tamsulosin is an alphablocker used in the treatment of difficulty urinating, a common symptom of prostate cancer.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a temozolomide stimulus. temozolomide is a an alkyalting/methylating agent used in the treatment of glioblastoma multiforme and melanoma.
cognitive decline
Loss of previously present mental abilities, generally in adults.
aspirin induced respiratory disease (non-exact synonym)
Aspirin induced asthma is caused by an anomaly in the arachidonic acid cascade, which causes increased production of cysteinyl leukotrienes, a series of chemicals involved in the body's inflammatory response. When medications like NSAIDs or aspirin block the COX-1 enzyme, prostaglandin and thromboxane production is decreased, which causes the overproduction of leukotrienes and produces the severe asthma and allergy-like effects. Although the underlying cause is not fully understood, the attachment of platelets to certain leukocytes in the blood may contribute to the overproduction of leukotrienes
A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label.
Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements.
An information entity is an entity that represents information about some other entity. For example, a measurement, a clustered data set.
an information content entity is an entity that is generically dependent on some artifact and stands in relation of aboutness to some entity
A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file
A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit.
An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface.
The ability of a pathogen to produce an infectious disease or disorder in an organism.
Djungarian hamster also in use for Phodopus campbelli
Lilium hybrid cultivar VII cv. 'Acapulco'
Collinsella Kageyama et al. 1999 emend. Kageyama and Benno 2000
Animal Virus[accessedResource: MSH:D014780][accessDate: 05-04-2011]
Animal Viruses[accessedResource: MSH:D014780][accessDate: 05-04-2011]
Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells.
Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells.[accessedResource: MSH:D014780][accessDate: 05-04-2011]
Virus, Animal[accessedResource: MSH:D014780][accessDate: 05-04-2011]
Viruses, Animal[accessedResource: MSH:D014780][accessDate: 05-04-2011]
Viruses[accessedResource: MSH:D014780][accessDate: 05-04-2011]
Zoophaginae[accessedResource: MSH:D014780][accessDate: 05-04-2011]
Sheep-associated malignant catarrhal fever virus
Lactobacillus frumenti Muller et al. 2000
Paramecium bursaria Chlorella virus 1, PBCV-1
Paramecium bursaria Chlorella virus PBCV-1
Pachycladon cheesemanii Heenan & A.D.Mitch.
Rhodopseudomonas palustris (Molisch 1907) van Niel 1944
Rhodopseudomonas rutila Akiba et al. 1983
Salmonella enterica subsp. enterica serovar Newport
Human respiratory syncytial virus A strain Long
Human respiratory syncytial virus (subgroup A / strain Long)
Synechococcus leopoliensis strain PCC 7942
Salmonella enterica subsp. enterica serovar Montevideo
Cupriavidus metallidurans (Goris et al. 2001) Vandamme and Coenye 2004
Ralstonia metallidurans Goris et al. 2001
Wautersia metallidurans (Goris et al. 2001) Vaneechoutte et al. 2004
Streptococcus dysgalactiae subsp. equisimilis
Salmonella enterica subsp. enterica serovar Choleraesuis
Salmonella choleraesuis serovar Choleraesuis
Salmonella enterica serovar Choleraesuis
Neisseria meningitidis serogroup B strain MC58
Staphylococcus carnosus Schleifer and Fischer 1982
Streptococcus gordonii Kilian et al. 1989
Streptococcus salivarius subsp. thermophilus
Lactococcus lactis (Lohnis) Schleifer et al. 1986
Streptococcus lactis subsp. diacetilactis
Staphylococcus saprophyticus subsp. saprophyticus
Magnaporthe grisea (T.T. Hebert) M.E. Barr
Clostridium botulinum (van Ermengem 1896) Bergey et al. 1923
Clostridium putrificum (Trevisan 1889) Reddish and Rettger 1922 (Approved Lists 1980)
Salmonella enterica subsp. enterica serovar Enteritidis
Clostridium sporogenes (Metchnikoff 1908) Bergey et al. 1923
Clostridium tetani (Flugge 1886) Bergey et al. 1923
Clostridium beijerinckii Donker 1926 (Approved Lists 1980) emend. Keis et al. 2001
Lactobacillus ferintoshensis Simpson et al. 2002
Lactobacillus parabuchneri Farrow et al. 1989
Burkholderia ambifaria Coenye et al. 2001
Burkholderia cepacia (Palleroni and Holmes 1981) Yabuuchi et al. 1993 genomovar VII
Burkholderia cepacia complex genomovar VII
Caulobacter vibrioides Henrici and Johnson 1935
Clostridium baratii corrig. (Prevot 1938) Holdeman and Moore 1970
Clostridium paraperfringens Nakamura et al. 1970 (Approved Lists 1980)
Clostridium perenne (Prevot 1940) McClung and McCoy 1957 (Approved Lists 1980)
Lactobacillus coprophilus subsp. confusus
Lactobacillus delbrueckii (Leichmann 1896) Beijerinck 1901
Lactobacillus delbrueckii Beijerinck 1901
Lactobacillus delbrueckii subsp. bulgaricus
Lactobacillus delbrueckii (SUBSP. BULGARICUS)
Lactobacillus hilgardii Douglas and Cruess 1936
Staphylococcus aureus subsp. aureus Mu50
Staphylococcus aureus (strain Mu50 / ATCC 700699)
Staphylococcus aureus subsp. aureus N315
Lactobacillus bavaricus Stetter and Stetter 1980
Lactobacillus sakei corrig. Katagiri et al. 1934 (Approved Lists 1980) emend. Klein et al. 1996
Lactobacillus alimentarius (ex Reuter 1970) Reuter 1983
Nicotiana langsdorffii x Nicotiana sanderae
Lactobacillus mindensis Ehrmann et al. 2003
Brevibacterium linens (Wolff 1910) Breed 1953
Streptococcus pneumoniae (strain ATCC BAA-255 / R6)
Brevibacterium divaricatum Su and Yamada 1960 (Approved Lists 1980)
Corynebacterium glutamicum (Kinoshita et al. 1958) Abe et al. 1967
Corynebacterium lilium Lee and Good 1963 (Approved Lists 1980)
uncultured Acidobacterium group bacterium
Propionibacterium freudenreichii subsp. shermanii
Propionibacterium freudenreichii shermanii
Propionicibacterium freudenreichii subsp. shermanii
Mycobacterium avium Chester 1901 (Approved Lists 1980) emend. Thorel et al. 1990
Mycobacterium tuberculosis typus gallinaceus
Mycobacterium bovis Karlson and Lessel 1970
Mycobacterium tuberculosis typus bovinus
Mycobacterium avium subsp. paratuberculosis
Mycobacterium paratuberculosis smegmatis
Mycobacterium tuberculosis typus humanus
Francisella tularensis subsp. tularensis SCHU S4
Francisella tularensis Biovar A str. SCHU S4
Francisella tularensis Biovar A str. Schu 4
Francisella tularensis subsp. tularensis Schu 4
Francisella tularensis subsp. tularensis str. SCHU S4
Francisella tularensis subsp. tularensis strain SCHU S4
Xylella fastidiosa (strain Temecula1 / ATCC 700964)
Saccharopolyspora erythraea (Waksman 1923) Labeda 1987
Streptomyces erythraeus (Waksman 1923) Waksman and Henrici 1948 (Approved Lists 1980)
Miscanthus sinensis x Miscanthus sacchariflorus
Miscanthus x gigantheus J.M.Greef & Deuter 1993, nom. inval.
Streptomyces antibioticus (Waksman and Woodruff 1941) Waksman and Henrici 1948
Streptomyces aureofaciens Duggar 1948 emend. Groth et al. 2003
Leptospira interrogans serovar Lai str. 56601
Streptomyces bikiniensis Johnstone and Waksman 1947
Streptomyces clavuligerus Higgens and Kastner 1971
Streptomyces coelicolor subspecies coelicolor
Xanthomonas axonopodis pv. citri str. 306
Streptomyces exfoliatus (Waksman and Curtis 1916) Waksman and Henrici 1948
Streptomyces fradiae (Waksman and Curtis 1916)
Streptomyces fradiae (Waksman and Curtis 1916) Waksman and Henrici 1948 (Approved Lists 1980) emend.
Streptomyces roseoflavus Arai 1951 (Approved Lists 1980)
Streptomyces cavourensis subsp. washingtonensis
Streptomyces griseus subsp. alpha (Ciferri 1927) Pridham 1970 (Approved Lists 1980)
Streptomyces griseus subsp. cretosus Pridham 1970 (Approved Lists 1980)
Streptomyces lipmanii (Waksman and Curtis 1916) Waksman and Henrici 1948
Streptomyces microflavus (Krainsky 1914) Waksman and Henrici 1948 (Approved Lists 1980) emend. Lanoo
Streptomyces willmorei (Erikson 1935) Waksman and Henrici 1948 (Approved Lists 1980)
Campylobacter jejuni subsp. jejuni NCTC 11168
Campylobacter jejuni subsp. jejuni str. NCTC 11168
Campylobacter jejuni subsp. jejuni strain NCTC 11168
Eucalyptus grandis x Eucalyptus urophylla
Salmonella enterica subsp. enterica serovar Kentucky
Pleuronichthys verticalis Jordan & Gilbert, 1880
Streptomyces virginiae Grundy et al. 1952
Staphylococcus aureus subsp. aureus str. MW2
Corynebacterium glutamicum str. ATCC 13032
Corynebacterium glutamicum strain ATCC 13032
Thermosynechococcus elongatus strain BP-1
Clostridium thermocellum str. ATCC 27405
Clostridium thermocellum strain ATCC 27405
Lactococcus lactis subsp. hordniae (ex Latorre-Guzman et al. 1977) Schleifer et al. 1986
Desulfovibrio desulfuricans subsp. desulfuricans str. G20
Choristoneura fumiferana multicapsid nuclear polyhedrosis virus CfMNPV
Choristoneura fumiferana multiple nucleocapsid nuclear polyhedrosis virus CfMNPV
Choristoneura fumiferana multiple nucleopolyhedrovirus
Choristoneura fumiferana nuclear polyhedrosis virus
Choristoneura fumiferana nuclear polyhedrosis virus CfMNPV
Choristoneura fumiferana nuclear polyhedrosis virus, CfMNPV
Choristoneura fumiferana nucleopolyhedrosis virus
Choristoneura fumiferana nucleopolyhedrovirus
multinucleocapsid nuclear polyhedrosis virus CfMNPV
spruce budworm nuclear polyhedrosis virus
Salmonella enterica subsp. enterica serovar Typhi str. Ty2
Salmonella enterica subsp. enterica serovar Typhi Ty2
Salmonella enterica subsp. enterica serovar Typhi strain Ty2
Actinobacillus pleuropneumoniae serovar 7
Actinobacillus pleuropneumoniae serotype 7
Cryptococcus neoformans var. neoformans JEC21
Cryptococcus neoformans var. neoformans serotype D JEC21
Cryptococcus neoformans var. neoformans strain JEC21
Filobasidiella neoformans var. neoformans strain JEC21
Salmonella enterica subsp. enterica serovar Typhimurium str. SL1344
Salmonella enterica subsp. enterica serovar Typhimurium SL1344
Salmonella enterica subsp. enterica serovar Typhimurium strain SL1344
Salmonella enterica subsp. enterica serovar Typhi str. CT18
Salmonella enterica subsp. enterica serovar Typhi CT18
Salmonella enterica subsp. enterica serovar Typhi strain CT18
Pseudomonas syringae pv. tomato str. DC3000
Vibrio parahaemolyticus str. RIMD 2210633
Flavobacterium (subgen. Halobacterium) halobium
Flavobacterium (subgen. Halobacterium) salinarium
Bacillus subtilis subsp. subtilis str. 168
Bacillus subtilis subsp. subtilis str. BGSC 1A700
Salmonella enterica subsp. enterica serovar Java
Bacteroides thetaiotaomicron str. VPI-5482
Bacteroides thetaiotaomicron strain VPI-5482
Bacillus cereus (strain ATCC 14579 / DSM 31)
Severe acute respiratory syndrome coronavirus
Actinobacillus pleuropneumoniae serovar 1 str. 4074
Actinobacillus pleuropneumoniae serovar 1 strain 4074
Locusta migratoria manilensis (Meyen, 1835)
Saccharomyces bayanus var. uvarum (Beij.) G.I. Naumov
Lactobacillus rossiae corrig. Corsetti et al. 2005
Cryptococcus neoformans var. grubii serotype A H99
Acidithiobacillus ferrooxidans ATCC 23270
Acidithiobacillus ferrooxidans str. ATCC 23270
Photorhabdus luminescens subsp. laumondii TTO1
Photorhabdus luminescens subsp. laumondii str. TTO1
Rhodopseudomonas palustris strain CGA009
Listeria monocytogenes serotype 4b str. F2365
Listeria monocytogenes serotype 4b strain F2365
Aggregatibacter actinomycetemcomitans HK1651
Actinobacillus actinomycetemcomitans HK1651
Aggregatibacter actinomycetemcomitans str. HK1651
Aggregatibacter actinomycetemcomitans strain HK1651
Clostridium acetobutylicum str. ATCC 824
Clostridium acetobutylicum strain ATCC 824
Clostridium difficile 630 (epidemic type X)
Lactococcus lactis subsp. lactis str. Il1403
Lactococcus lactis subsp. lactis strain Il1403
Legionella pneumophila subsp. pneumophila str. Philadelphia 1
Legionella pneumophila subsp. pneumophila 'Philadelphia 1'
Legionella pneumophila subsp. pneumophila strain Philadelphia 1
Pasteurella multocida subsp. multocida str. Pm70
Pasteurella multocida subsp. multocida Pm70
Pasteurella multocida subsp. multocida strain Pm70
Thermoplasma acidophilum strain DSM 1728
Brevibacterium aurantiacum Gavrish et al. 2005
Lactobacillus curvatus (Troili-Petersson 1903) Abo-Elnaga and Kandler 1965 (Approved Lists 1980) eme
Salmonella enterica subsp. enterica serovar Oranienburg
Salmonella enterica subsp. enterica serovar Senftenberg
Staphylococcus aureus subsp. aureus MRSA252
Staphylococcus aureus subsp. aureus str. MRSA252
Staphylococcus aureus subsp. aureus strain MRSA252
Staphylococcus aureus subsp. aureus MSSA476
Staphylococcus aureus subsp. aureus str. MSSA476
Staphylococcus aureus subsp. aureus strain MSSA476
Salmonella enterica subsp. enterica serovar Emek
Kluyveromyces marxianus var. drosophilarum
Anaeromyxobacter dehalogenans ATCC BAA-259
Anaeromyxobacter dehalogenans str. 2CP-C
Anaeromyxobacter dehalogenans strain 2CP-C
Clostridium beijerinckii str. NCIMB 8052
Clostridium beijerinckii strain NCIMB 8052
Xanthomonas oryzae pv. oryzae str. KACC10331
Xanthomonas oryzae pv. oryzae strain KACC10331
Clostridium argentinense Suen et al. 1988
Pectobacterium atrosepticum (van Hall 1902) Hauben et al. 1999
Pectobacterium carotovorum subsp. atrosepticum
Pectobacterium carotovorum var. atrosepticum
Thalassiosira pseudonana strain CCMP1335
Streptococcus thermophilus str. CNRZ1066
Streptococcus thermophilus strain CNRZ1066
Chlamydomonas smithii R.W.Howshaw & H.Ettl
Streptomyces hygroscopicus subsp. jinggangensis
'Streptomyces hygroscopicus subsp. jinggangensis'
Streptomyces hygroscopicus var. jinggangensis
Caenorhabditis vulgaris Baird, Fitch & Emmons, 1994
Trypanosoma (Trypanozoon) brucei gambiense
Pseudomonas syringae (pv. phaseolicola), and
Lactobacillus delbrueckii subsp. bulgaricus ATCC BAA-365
Lactobacillus delbrueckii subsp. bulgaricus Lb-18
Lactobacillus delbrueckii subsp. bulgaricus str. ATCC BAA-365
Lactobacillus delbrueckii subsp. bulgaricus strain ATCC BAA-365
Saccharomyces cerevisiae x Saccharomyces kudriavzevii
Candidatus Pelagibacter ubique str. HTCC1062
Candidatus Pelagibacter ubique strain HTCC1062
Mycobacterium tuberculosis var. bovis BCG
Streptomyces avermectinius Takahashi et al. 2002
Streptomyces avermitilis (ex Burg et al. 1979) Kim and Goodfellow 2002
Actinobacillus pleuropneumoniae serovar 2
Actinobacillus pleuropneumoniae serotype 2
Magnetospirillum magneticum strain AMB-1
Gossypium longicalyx J.B.Hutch. & B.J.S.Lee
Eschscholzia californica subsp. mexicana (Greene) C.Clark
Populus fremontii x Populus angustifolia
Campylobacter jejuni subsp. jejuni 81-176
Campylobacter jejuni subsp. jejuni str. 81-176
Campylobacter jejuni subsp. jejuni strain 81-176
Xanthomonas oryzae pv. oryzae str. PXO99A
Xanthomonas oryzae pv. oryzae strain PXO99A
Citrullus lanatus (Thunb.) Matsum. & Nakai
Staphylococcus aureus subsp. aureus USA300
Staphylococcus aureus subsp. aureus str. USA300
Staphylococcus aureus subsp. aureus strain USA300
Populus balsamifera subsp. trichocarpa (Torr. et A.Gray) Brayshaw
Populus balsamifera subsp. trichocarpa x Populus deltoides
Populus deltoides x Populus balsamifera subsp. trichocarpa
Kaposi's sarcoma-associated herpes-like virus
Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8
Kaposi's sarcoma-associated herpesvirus KSHV
Kaposi's sarcoma-associated human herpes virus
Karposi's sarcoma-associated herpes-like virus
Fragaria chiloensis x Fragaria virginiana
Fragaria virginiana x Fragaria chiloensis
Francisella tularensis subsp. holarctica LVS
Francisella tularensis subsp. holarctica str. LVS
Francisella tularensis subsp. holarctica strain LVS
Prunus necrotic ringspot ilarvirus pnrsv
Streptococcus faecium subsp. casseliflavus
Streptococcus faecium var. casseliflavus
Arabidopsis arenosa x Arabidopsis thaliana
Drosophila sechellia x Drosophila simulans
Influenza A virus (A/Texas/36/1991(H1N1))
Corynebacterium jeikeium Jackman et al. 1988
Bartonella henselae (Regnery et al. 1992) Brenner et al. 1993
Rochalimaea henselae Regnery et al. 1992
Xanthomonas oryzae pv. oryzicola str. BLS256
Xanthomonas oryzae pv. oryzicola strain BLS256
Syntrichia ruralis (Hedw.) F.Weber & D.Mohr
Tortula ruralis (Hedw.) P. Gaertn. et al.
Vigna unguiculata subsp. unguiculata (Unguiculata Group)
Vigna unguiculata subsp. unguiculata Unguiculata Group
Athelia rolfsii (Curzi) C.C.Tu et Kimbr.
Listeria monocytogenes strain FSL J1-208
Listeria monocytogenes strain FSL J2-071
Filobasidiella neoformans var. neoformans
Lactobacillus helveticus strain DPC 4571
Lycopersicon pimpinellifolium (L.) Mill.
Petunia axillaris X Petunia integrifolia
Mycobacterium bovis BCG str. Pasteur 1173P2
Mycobacterium bovis BCG strain Pasteur 1173P2
Ipomoea tiliacea auct. non (Willd.) Choisy
Clostridium botulinum A strain ATCC 3502
Pachycladon enysii (Cheeseman ex Kirk) Heenan & A.D.Mitch.
Salmonella enterica subsp. enterica serovar Typhisuis
Lactococcus lactis subsp. cremoris MG1363
Lactococcus lactis subsp. cremoris str. MG1363
Lactococcus lactis subsp. cremoris strain MG1363
Methanobrevibacter smithii str. ATCC 35061
Methanobrevibacter smithii strain ATCC 35061
Staphylococcus aureus subsp. aureus str. Newman
Staphylococcus aureus subsp. aureus Newman
Staphylococcus aureus subsp. aureus strain Newman
Staphylococcus lentus (Kloos et al. 1976) Schleifer et al. 1983
Staphylococcus sciuri subsp. lentus Kloos et al. 1976 (Approved Lists 1980)
Porphyromonas gingivalis str. ATCC 33277
Porphyromonas gingivalis strain ATCC 33277
Actinobacillus pleuropneumoniae serovar 3
Mycoderma aceti souches non visqueuses (membraneuses)
Actinobacillus pleuropneumoniae serovar 5
Actinobacillus pleuropneumoniae serotype 5
Oryza sativa f. spontanea Roshev. nom. illeg.
Streptomyces griseus subsp. griseus NBRC 13350
Streptomyces griseus subsp. griseus IFO 13350
Streptomyces griseus subsp. griseus str. NBRC 13350
Streptomyces griseus subsp. griseus strain NBRC 13350
Desulfovibrio halophilus Caumette et al. 1991
Mus musculus musculus x M. m. domesticus
Symplocarpus renifolius Schott ex N.N.Tzvelev
Marvinbryantia formatexigens str. DSM 14469
Marvinbryantia formatexigens strain DSM 14469
Diplokokkus intracellularis meningitidis
Micrococcus meningitidis cerebrospinalis
Schizosaccharomyces japonicus var. japonicus
Schizosaccharomyces japonicus var. versatilis
Komagataella pastoris (Guilliermond) Y.Yamada et al.
Neisseria elongata Bovre and Holten 1970
Escherichia coli str. K-12 substr. MG1655
Escherichia coli str. K12 substr. MG1655
Butyrivibrio proteoclasticus strain B316
Bordetella bronchiseptica (Ferry 1912) Moreno-Lopez 1952
Bordetella parapertussis (Eldering and Kendrick 1938) Moreno-Lopez 1952
Saccharomyces pastorianus Weihenstephan 34/70
Caldicellulosiruptor kristjanssonii Bredholt et al. 1999
Heliconius erato etylus x Heliconius himera
Eucalyptus camaldulensis x Eucalyptus grandis
Salmonella enterica subsp. enterica serovar Abortusovis
Zymomonas mobilis (Lindner 1928) Kluyver and van Niel 1936
Salmonella enterica subsp. enterica serovar Paratyphi A
Salmonella choleraesuis choleraesuis (serotype paratyphi A)
Salmonella choleraesuis subsp. choleraesuis serovar Paratyphi A
Citrobacter diversum (sic) (Burkey 1928) Werkman and Gillen 1932
Citrobacter diversus (Burkey 1928) Werkman and Gillen 1932
Levinea malonatica Young et al. 1971 (Approved Lists 1980)
Cryptococcus neoformans var. shanghaiensis
Filobasidiella neoformans var. bacillispora
Pectobacterium carotovorum var. chrysanthemi
Pectobacterium cartovorum f. sp. chrysanthemi
Pectobacterium chrysanthemi = Dickeya chrysanthemi
Pectobacterium parthenii var. chrysanthemi
Pectobacterium parthenii var. dianthicola
Staphylococcus aureus subsp. aureus RN4220
Staphylococcus aureus subsp. aureus str. RN4220
Staphylococcus aureus subsp. aureus strain RN4220
Salmonella enterica subsp. enterica serovar Paratyphi B
Salmonella enterica subsp. enterica serovar Paratyphi C
Salmonella enterica subsp. enterica serovar Agona
Salmonella cholerae-suis subsp. cholerae-suis
Salmonella choleraesuis subsp. choleraesuis
Sarcophaga (Parasarcophaga) crassipalpis
Salmonella enterica subsp. enterica serovar Gallinarum
Salmonella enterica subsp. enterica serovar Infantis
Salmonella enterica subsp. enterica serovar Muenchen
Arabidopsis lyrata (L.) O'Kane & Al-Shehbaz
Arabidopsis lyrata subsp. petraea (L.) O'Kane & Al-Shehbaz
Prochlorococcus marinus subsp. pastoris str. CCMP1986
Prochlorococcus marinus subsp. pastoris str. CCMP1378
Salmonella enterica subsp. enterica serovar Thompson
Salmonella enterica subsp. enterica serovar Pullorum
Lactobacillus paraplantarum Curk et al. 1996
Salmonella enterica subsp. enterica serovar Heidelberg
Yersinia pseudotuberculosis subsp. pestis
Halobacterium sp. (strain NRC-1 / ATCC 700922 / JCM 11081)
Pantoea stewartii (Smith 1898) Mergaert et al. 1993
Streptomyces tanashiensis Hata et al. 1952
Shewanella oneidensis Venkateswaran et al. 1999
Actinobacillus (Haemophilus) actinomycetemcomitans
Drosophila sechellia Tsacas and Bachli, 1981
Photobacterium profundum Nogi et al. 1998
Oncorhynchus tshawytscha (Walbaum, 1792)
Strongylocentrotus purpuratus (Stimpson, 1857)
Hordeum vulgare subsp. spontaneum (K.Koch) Thell.
Coxiella burnetii (Derrick 1939) Philip 1948
Rickettsia prowazekii da Rocha-Lima 1916
Rickettsia rickettsii (Wolbach 1919) Brumpt 1922
Human respiratory syncytial virus (strain B1)
Bartonella quintana (Schmincke 1917) Brenner et al. 1993
Rochalimaea quintana (Schmincke 1917) Krieg 1961 (Approved Lists 1980)
Bacteroides fragilis subsp. thetaiotaomicron
Arabidopsis halleri (L.) O'Kane & Al-Shehbaz
Hippoglossus hippoglossus (Linnaeus, 1758)
Salmonella enterica subsp. enterica serovar Muenster
Salmonella enteritidis serotype muenster
Ambystoma mexicanum (Shaw & Nodder, 1798)
Lactobacillus paralimentarius Cai et al. 1999
Leymus cinereus (Scribn. & Merr.) A.Love
Bacteroides nodosus (Beveridge 1941) Mraz 1963 (Approved Lists 1980)
Dichelobacter nodosus (Beveridge 1941) Dewhirst et al. 1990
Desulfovibrio vulgaris str. Hildenborough
Desulfovibrio vulgaris (STRAIN HILDENBOROUGH)
Desulfovibrio vulgaris subsp. vulgaris (strain Hildenborough)
Desulfovibrio vulgaris subsp. vulgaris ATCC 29579
Desulfovibrio vulgaris subsp. vulgaris str. Hildenborough
Desulfovibrio vulgaris vulgaris (strain Hildenborough)
Saccharomyces bayanus x Saccharomyces cerevisiae
Salmonella enterica subsp. enterica serovar Saintpaul
Salmonella enterica subsp. enterica serovar Saint Paul
Salmonella enteritidis serovar Saintpaul
Salmonella enterica subsp. enterica serovar Typhi
Salmonella enterica subsp. enterica serovar Typhimurium
Salmonella choleraesuis serotype typhimurium
Salmonella enterica serotype Typhimurium
Salmonella enterica subsp. enterica serovar 1,4,[5],12,:i:1,2
Staphylococcus aureus subsp. aureus NCTC 8325
Staphylococcus aureus subsp. aureus str. NCTC 8325
Staphylococcus aureus subsp. aureus strain NCTC 8325
agent of human granulocytic ehrlichiosis
Salmonella enterica subsp. enterica serovar Dublin
Buchnera aphidicola (Schizaphis graminum)
Buchnera aphidicola (subsp. Schizaphis graminum)
Salmonella enterica subsp. enterica serovar Typhimurium str. LT2
Salmonella enterica subsp. enterica serovar Typhimurium LT2
Salmonella enterica subsp. enterica serovar Typhimurium strain LT2
Salmonella enterica subsp. enterica serovar Typhimurium strain LT2-LTL2
Streptococcus dysgalactiae subsp. dysgalactiae
Tetraodon nigroviridis Marion de Proce, 1822
The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation.
A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum
A planned process with the objective to produce information about some evaluant
An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role).
measuring
scientific observation
A data item which is used to indicate the degree of uncertainty about a measurement.
A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis.
A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed.
James Malone modified from original OBI definition
Tomasz Adamusiak modified from original OBI definition
An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members.
A protocol is an information entity which is a set of instructions that describe an how an experiment is done.
a protocol is a plan specification which has sufficient level of detail and quantitative information to communicate it between domain experts, so that different domain experts will reliably be able to independently reproduce the process.
Analyte role is a role borne by a material entity and realized by implementation of an analyte measuring assay with objective to detect the magnitude/concentration/ amount of the analyte in the entity bearing evaluant role.
Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role
PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified.
Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity.
reverse transcription polymerase chain reaction
differential expression analysis data transformation
A differential expression analysis data transformation is a data transformation that has objective differential expression analysis
Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length.
Illumina sequencing
Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing.
A material which is collected with the intention of being representative of a greater whole (i.e. a sample).
blood drawn from patient to measure his systemic glucose level. A population of humans with HIV enrolled in a study taken to represent patients with HIV in general.
a directive information entity that is part of a study design. Independent variables are entities whose values are selected to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled
Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent.
A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3’ end are purified.
A specimen that has been frozen in order to store it.
A specimen that has been modified in order to be able to detect it in future experiments.
a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin
a specimen that is output of a specimen creation process used for an investigation without storage
a specimen that is output of a process that cell culture inoculated into agar for long term storage
A reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes.
Chris Stoeckert, Jie Zheng, Bjoern Peters
A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes
validation by reverse transcription PCR design
A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results.
A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results.
A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant.
Adapted from several sources, including http://.en/wikipedia.org/wiki/False_discovery_rate http://svitsrv25.epfl.ch/R-doc/library/qvalue.html
A specimen for which it is known whether it has been subjected to storage of a specified type.
A measurement that is the measure of the latitude coordinate of a site.
A measurement that is the measure of the longitude coordinate of a site.
A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs.
A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster
A material which is obtained and stored for potential use during an investigation.
A data transformation is a process which produces output data from input data
A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value.
data analysis
data processing
A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation.
A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves.
A normalization data transformation is a data transformation that has objective normalization.
A process by which totally or partially complementary, single-stranded nucleic acids are combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity.
a planned process by which totally or partially complementary, single-stranded nucleic acids are combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity.
A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences.
DNA_sequencer[accessedResource: MO_676][accessDate: 05-04-2011]
array_scanner[accessedResource: MO_824][accessDate: 05-04-2011]
An processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip
An arrayer is an instrument which deposits biological material onto a substrate in a defined pattern.
a device which deposits biological material onto a substrate in a defined pattern.
A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density.
A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions.
A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay
heating_block[accessedResource: MO_663][accessDate: 05-04-2011]
A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others.
A container which is used to maintain constant contact of a liquid on an array. This can be either a glass vial or slide.
hybridization_chamber[accessedResource: MO_563][accessDate: 05-04-2011]
A device which is used to maintain constant contact of a liquid on an array. This can be either a glass vial or slide.
An instrument which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature.
hybridization_station[accessedResource: MO_497][accessDate: 05-04-2011]
A device which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature.
A liquid_handler is an instrument used for automated liquid transfer and handling.
liquid_handler[accessedResource: MO_868][accessDate: 05-04-2011]
a device that is used for automated liquid transfer and handling.
liquid_handling_instrument
An instrument used to chemically synthesize oligonucleotides.
oligo_synthesizer[accessedResource: MO_930][accessDate: 05-04-2011]
A sonicator is an instrument that converts a variable electrical current to mechanical vibration of a metalic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions. [accessedResource: http://purl.obolibrary.org/obo/OBI_0400114][accessDate: 2009-08-12]
An instrument that converts a variable electrical current to mechanical vibration of a metallic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions.
A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance.
thermal_cycler[accessedResource: MO_854][accessDate: 05-04-2011]
An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time.
DNA_amplifier
PCR_machine
Polymerase_Chain_Reaction_ machine
thermocycler
An instrument which removes liquid by the application of negative pressure, i.e. vacuum.
vacuum_dryer[accessedResource: MO_696][accessDate: 05-04-2011]
A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created.
vortex_mixer
waterbath[accessedResource: MO_541][accessDate: 05-04-2011]
A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure).
Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus.
James Malone, modified from original OBI definition (Philippe Rocca Serra)
Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group.
The detrimental process in which an infectious agent colonizes or replicates in a host environment
Abnormal, harmful processes caused by or associated with a disease
root tip
The portion of the root including the meristem and the root cap.
root cortex
A portion of ground tissue that is part of a cortext and part of a root
root meristem
A meristem which is part of a root system
Arabidopsis Growth principal growth stage 8
A root development stage during which a radicle emerges from the seed coat.
The stage at which any flower(s) on the plant are open.
A sporophyte development stage during which a sporophyte participates in multicellular organism senescence.
Arabidopsis Growth principal growth stage 9
A germination stage during which there is absorption of water by the seed.
The stage at which flowering is complete.
The stage at which the first flower(s) open.
Stage R1 Open flower at any node on the main stem
A sporophyte vegetative stage during which the coleoptile emerges from the seed coat.
A reproductive growth stage during which an inflorescence is detectable. This includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families.
The resumption of growth by the embryo in a seed.
The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground.
Rosette has reached approximately 50% of its final diameter.
The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground.
Rosette has reached approximately 70% of its final diameter.
Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased.
Rosette has reached approximately 20% of its final diameter.
LP.20 twenty or more leaves whorls visible
The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at one node, other than the cotyledonary node, are visible above ground.
The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground.
The stage at which vegetative structures are being produced by SAM.
Stages of growth based on expansion of the rosette in Arabidopsis.
The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground.
The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground.
The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant.
Has vascular tissue. From APweb Glossary: In angiosperms, commonly thought of as one of the three basic parts of the seed plant body, a structure usually of determinate growth, without secondary thickening, and of superficial origin, often flattened and photosynthetic in part, and in the axil of which is found a bud. Occurs in the sporophytic phase of a plant life cycle.
root stele
A root development stage during which a coleorhiza emerges from the seed coat.
A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death.
A small nuclear RNA molecule involved in pre-mRNA splicing and processing.
An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.
A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions.
Lower, narrow portion of the uterus where it joins with the top end of the vagina.
The evolution of mammals is associated with radical changes in their reproductive biology, particularly the structure and function of the female reproductive organs. These changes include the evolution of the uterus, cervix, vagina, placenta and specialized cell types associated with each of those structures.[well established][VHOG]
The narrow caudal end of the uterus that opens into the vagina. [TFD][VHOG]
DOI:10.1098/rspb.2004.2848 Lynch VJ, Roth JJ, Takahashi K, Dunn CW, Nonaka DF, Stopper GF, Wagner GP, Adaptive evolution of HoxA-11 and HoxA-13 at the origin of the uterus in mammals. Proceedings of the Royal Society of London, Series B (2004)
TODO - distinguish generic olfactory apparatus from nose; we have olfactory organ for the generic organ - add new class 'olfactory structure'?
a protuberance in vertebrates that houses the nostrils, or nares, which admit and expel air for respiration in conjunction with the mouth. Behind the nose are the olfactory mucosa and the sinuses. Behind the nasal cavity, air next passes through the pharynx, shared with the digestive system, and then into the rest of the respiratory system. In humans, the nose is located centrally on the face; on most other mammals, it is on the upper tip of the snout[WP]. GO: The nose is the specialized structure of the face that serves as the organ of the sense of smell and as part of the respiratory system. Includes the nasi externus (external nose) and cavitas nasi (nasal cavity)[Wikipedia:Nose].
A primitive exocrine pancreas can be found in holocephalan cartilaginous fish; a pancreatic duct directly ending in the gut lumen is connected to a glandular structure made of exocrine cells and associated with cell islets, which comprises three different hormone-producing cell types: insulin, somatostatin and glucagon (Yui and Fujita, 1986)[PMID:16417468]
Anatomical structure which consists of glands developed from pancreatic ducts in the larvae and secrete insulin.[AAO]
Mammals, birds, reptiles and amphibians have a pancreas with similar histology and mode of development, while in some fish, the islet cells are segregated as Brockmann bodies.[well established][VHOG]
Regions of the pancreas that contain its endocrine (i.e., hormone-producing) cells.
PMID:7600975 Slack JMW, Developmental biology of the pancreas. Development (1995)
An endocrine gland derived from infundibulum of the floor of the diencephalon and an ectodermal dorsal protrusion from the buccal cavity which controls the secretion of many hormones influencing the function of various organs of the body.[AAO]
An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin.[TAO]
It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG]
Taxon notes: The lamprey possesses a distinct pituitary organ and hormones, the ascidian does not show distinct evidence of them [Sower S, Freamat M, Kavanaugh S. The origins of the vertebrate hypothalamic–pituitary–gonadal (HPG) and hypothalamic–pituitary–thyroid (HPT) endocrine systems: new insights from lampreys. Gen Comp Endocrinol 2009;161:20-9]
The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN].
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.510
(...) specific vertebrate traits within the chordate phylum such as skeletal tissues, PNS, and spectacular head and brain development, are linked to the NC (neural crest) and its derivatives.[well established][VHOG]
Nervous structures including ganglia outside of the central nervous system. Divided into somatic nervous system and autonomic nervous system
Nervous structures including ganglia outside of the central nervous system. Kimmel et al, 1995.[TAO]
Part of nervous system in which nerves extend throughout the body outside of the brain and spinal cord.[AAO]
pars peripherica; systema nervosum periphericum
DOI:10.1007/978-0-387-46954-6_6 Dupin E, Creuzet S, Le Douarin NM, The contribution of the neural crest to the vertebrate body. Advances in experimental medicine and biology (2006)
Development notes: has developmental contribution from NC in verteberates (UBERONREF:0000002)
In mammals, the autonomic nervous system is divided into two contrasting, antagonistic systems of control over visceral activity: the sympathetic system and the parasympathetic system (reference 1); In general, the teleosts may be considered phylogenetically the first class of vertebrates in which the heart is regulated by both sympathetic and parasympathetic neural pathways (reference 2).[well established][VHOG]
Part of the autonomic nervous system which has opposing physiological effects of the sympathetic nervous system. Examples include decreasing the heart rate or dilating the blood vessels.[AAO]
The parasympathetic nervous system (PSNS) is a division of the autonomic nervous system (ANS), along with the sympathetic nervous system (SNS) and enteric nervous system (ENS). The ANS is a subdivision of the peripheral nervous system (PNS). ANS sends fibers to three tissues: cardiac muscle, smooth muscle, or glandular tissue. This stimulation, sympathetic or parasympathetic, is to control smooth muscle contraction, regulate cardiac muscle, or stimulate or inhibit glandular secretion [Wikipedia]. The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia [GO].
parasympathetic part of autonomic division of nervous system
pars parasympathica divisionis autonomici systematis nervosi
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.634, DOI:10.1016/S0306-4530(98)00057-2 Porges SW, Love: an emergent property of the mammalian autonomic nervous system. Psychoneuroendocrinology (1998)
Part of the autonomic nervous system which has opposing physiological effects of the parasympathetic nervous system. Examples include increasing the heart rate or constricting the blood vessels.[AAO]
The Sympathetic Nervous System (SNS) is a branch of the autonomic nervous system along with the enteric nervous system and parasympathetic nervous system. It is always active at a basal level (called sympathetic tone) and becomes more active during times of stress. Its actions during the stress response comprise the fight-or-flight response [Wikipedia]. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO].
The autonomic nervous system is composed of three divisions: the sympathetic division, the parasympathetic division, and the enteric division. (...) In ray-finned teleost fishes, a sympathetic chain is present, and dual innervation of additional organs can be observed. A similar pattern can be found in amphibians (...). The evolution of the autonomic nervous system has been quite conservative, especially in the tetrapod lineage.[well established][VHOG]
The part of the autonomic nervous system which chiefly contains adrenergic fibres and tends to control and reduce secretions, decrease the contractility and hence the tone of smooth muscles and provoke the contraction of blood vessels. Essentially, it consists of preganglionic fibres from the thoracic and upper lumbar parts of the spinal cord. These fibres, by means of delicate rami communicantes, cross over to ganglia sited in a pair of ganglionated cords on each side of the vertebral column or to more peripheral ganglia. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
pars sympathica divisionis autonomici systematis nervosi
sympathetic part of autonomic division of nervous system
ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptation (2005) p.461-463
Editor notes - endocrine and exocrine pancrease are not co-associated in hagfishes or lampreys [PMID:20959416] - create a separate class for these?
In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG]
The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin[GO].
The part of the pancreas that acts as an endocrine gland, consisting of the islets of Langerhans, which secrete insulin and other hormones. [TFD][VHOG]
The zebrafish endocrine pancreas is composed of small groups of islet cells that are distributed throughout the exocrine pancreas. The islet cells produce insulin, glucagon and somatostatin.[TAO]
DOI:10.1016/j.crvi.2007.03.006 Madsen OD, Pancreas phylogeny and ontogeny in relation to a 'pancreatic stem cell'. C.R. Biologies (2007)
Taxon notes: They are among the characteristics that distinguish the extant Aves from other living groups. Feathers have also been noticed in those Theropoda which have been termed feathered dinosaurs. Although feathers cover most parts of the body of birds, they arise only from certain well-defined tracts on the skin. They aid in flight, thermal insulation, waterproofing and coloration that helps in communication and protection. Structure notes: The β-keratins in feathers, beaks and claws — and the claws, scales and shells of reptiles — are composed of protein strands hydrogen-bonded into β-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the α-keratins of mammalian hair, horns and hoof.
one of the epidermal growths that form the distinctive outer covering, or plumage, on birds. Feathers are formed in tiny follicles in the epidermis, or outer skin layer, that produce keratin proteins. The β-keratins in feathers, beaks and claws — and the claws, scales and shells of reptiles — are composed of protein strands hydrogen-bonded into β-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the α-keratins of mammalian hair, horns and hoof. The exact signals that induce the growth of feathers on the skin are not known but it has been found that the transcription factor cDermo-1 induces the growth of feathers on skin and scales on the leg.
Appendage that is used to produce lift for flight through the air.
This class is not monophyletic. See also: GO:0007629
An appendage is an external body part, or natural prolongation, that protrudes from an organism's body, such as a vertebrate's limbs[BILA][BILA:0000018].
Major subdivision of an organism that protrudes from the body[DOS, CARO].
Note this is currently a subtype of organism subdivision - which would exclude feathers
Organ or organ part that is attached to the body of an organism. For example a limb[GO, modified][GO:0048736].
Lymph nodes that are associated with the lymphatic system have evolved in mammals.[well established][VHOG]
Oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. Lymph nodes are garrisons of B, T, and other immune cells. Lymph nodes are found all through the body, and act as filters or traps for foreign particles. They contain white blood cells that use oxygen to process. Thus they are important in the proper functioning of the immune system. The lymph node is surrounded by a fibrous capsule, and inside the lymph node the fibrous capsule extends to form trabeculae. The substance of the lymph node is divided into the outer cortex and the inner medulla surrounded by the former all around except for at the hilum, where the medulla comes in direct contact with the surface. Thin reticular fibers, elastin and reticular fibers form a supporting meshwork called reticular network (RN) inside the node, within which the white blood cells (WBCs), most prominently, lymphocytes are tightly packed as follicles in the cortex. Elsewhere, there are only occasional WBCs. The RN provides not just the structural support, but also provide surface for adhesion of the dendritic cells, macrophages and lymphocytes. It allows for exchange of material with blood through the high endothelial venules and provides the growth and regulatory factors necessary for activation and maturation of immune cells[WP].
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.630
Organism subdivision that is the part of the body consisting of the cranial and pharyngeal regions.[AAO]
Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.[TAO]
The head is the anterior-most division of the body [GO].
Vertebrate evolution has been characterized by a fresh and vast array of cranial structures that collectively form the head.[well established][VHOG]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.82
Development notes: The sensory ganglia of spinal nerves arise only from the neural crest, whereas many sensory ganglia of the 'dorsal' cranial nerves arise from epibranchial placodes as well as the neural crest[doi: 10.1093/icb/icn065]. Other ontology notes: FMA treats dorsal root ganglion and spinal ganglion as equivalent labels. MA is the only ontology to introduce two classes here (also EHDAA2)
From comparative analyses of craniate brains, a morphotype of the brain in the earliest craniate stock can be constructed. In marked contrast to cephalochordates, the ancestral craniate morphotype had a plethora of unique features, which included a telencephalon with pallial and subpallial parts, paired olfactory bulbs with substantial projections to most or all of the telencephalic pallium, paired lateral eyes and ears, a lateral line system for both electroreception and mechanoreception, spinal cord dorsal root ganglia, and an autonomic nervous system.[well established][VHOG]
Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves.[TAO]
ganglion on the dorsal root of each spinal nerve that is one of a series of ganglia lodging cell bodies of sensory neurons[BTO]. Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves[..]. one on the posterior root of each spinal nerve, composed of unipolar nerve cell bodies of the sensory neurons of the nerve[TFD].
DOI:10.1002/1097-0185(20000615)261:3<111::AID-AR6>3.0.CO;2-F Butler AB, Chordate evolution and the origin of craniates: An old brain in a new head. AnaT Rec (New Anat) (2000)
A biological tissue mass, most commonly a mass of nerve cell bodies.
Cranial sensory placodes are focused areas of the head ectoderm of vertebrates that contribute to the development of the cranial sense organs and their associated ganglia. Placodes have long been considered a key character of vertebrates, and their evolution is proposed to have been essential for the evolution of an active predatory lifestyle by early vertebrates.[well established][VHOG]
Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system.[AAO]
Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)[TAO]
TODO - check vert vs invert. Other species: Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia). // Subdivision of neural tree (organ) which primarily consists of cell bodies of neurons located outside the neuraxis (brain and spinal cord); together with a nucleus and its associated nerve, it constitutes a neural tree (organ). Examples: spinal ganglion, trigeminal ganglion, superior cervical ganglion, celiac ganglion, inferior hypogastric (pelvic) ganglion. // a cluster of nerve cells and associated glial cells (nuclear location) // Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system. // Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com).
DOI:10.1016/j.ydbio.2005.02.021 Mazet F, Hutt JA, Milloz J, Millard J, Graham A, Shimeld SM, Molecular evidence from Ciona intestinalis for the evolutionary origin of vertebrate sensory placodes. Developmental Biology (2005)
Anatomical structure consisting of long narrow duct which carries urine from the kidney to the urinary bladder.[AAO]
Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. In humans, organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: the right and the left ureters.
The duct of amniotes that carries urine from a metanephric kidney to the urinary bladder. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]
The first embryonic hint of a metanephros is the formation of the metanephric duct that appears as a ureteric diverticulum arising at the base of preexisting mesonephric duct. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes, and the metanephric duct is usually called the ureter.[well established][VHOG]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.543
A tube which connects the urinary bladder to the outside of the body. In males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening. The external urethral sphincter is a striated muscle that allows voluntary control over urination.
A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong].
Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.566
It is a misunderstanding that the larval form always reflects the group's evolutionary history. It could be the case, but often the larval stage has evolved secondarily, as in insects. In these cases the larval form might differ more from the group's common origin than the adult form[WP]. Uberon includes clade-specific subclasses.
a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle.
A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO].
ZFA - The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes filters blood from the glomerular capillaries. TODO - split glomerulus and glomerular tuft? DONE. GUDMAP: 'Together, the Bowman’s capsule and the glomerulus comprise the definitive renal corpuscle.' - here the glomerulus is part of the capsule?
By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG]
the organs associated with producing offspring in the gender that produces spermatozoa.
ISBN:978-0792383369 Lombardi J, Comparative vertebrate reproduction (1998) p.43
A kidney formed of nephric tubules arising in the middle region of the nephric ridge; a transient embryonic stage that replaces the pronephros, but is itself replaced by the adult metanephros [in mammals; in fishes and amphibians it is the adult kidney]. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.745][VHOG]
As the pronephros regresses, the archinephric duct induces the sequential differentiation of tubules in the more caudal parts of the nephric ridge. (...) Tubules that differentiate in the middle part of the nephric ridge form a kidney called the mesonephros. This kidney functions in the embryos and larvae of all vertebrates. (...) In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG]
By contrast to the pronephros, the histological features of the mesonephros, with its primitive glomeruli, suggest that it probably functions as a primitive kidney, and is involved in the production of much of the amniotic fluid. Within the two mesonephroi, one located on either side of the dorsal mesentery of the hindgut, a substantial number (in the region of about 40 or more) of cranio-caudally segmented mesonephric tubules are formed. It has, however, been suggested that only the most rostrally located 4-6 pairs of mesonephric tubules drain into the mesonephric portion of the nephric duct. This is now seen to extend along the length of the mesonephroi, being located towards their lateral sides. The mesonephros is also retained over a considerably longer period than the pronephros, but gradually undergoes regression in a cranio-caudal direction. While the rostral part displays clear evidence of regression its more caudal part appears to display evidence of functional activity. Within the medial part of the mesonephros, vesicles are formed, although no glomeruli are formed there in this species. It is, however, difficult to believe that the relatively enormous mesonephroi do not have an excretory role in the mouse, only serving as a base for gonadal differentiation. In the human embryo, the medial part of the mesonephric tubules enlarges, become invaginated by capillaries, and form glomeruli. These then take on an excretory role. In the mouse, the mesonephric ducts appear to be patent throughout their length[GUDMAP] comment: Taxon notes: The mesonephros persists and form the permanent kidneys in fishes and amphibians, but in reptiles, birds, and mammals, it atrophies and for the most part disappears rapidly as the permanent kidney (metanephros) begins to develop during the sixth or seventh week. By the beginning of the fifth month only the ducts and a few of the tubules of the mesonephros remain[WP]
In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the mesonephros will form the mature kidney[GO]. One of three excretory organs that develop in vertebrates. It serves as the main excretory organ of aquatic vertebrates and as a temporary kidney in higher vertebrates. composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo.
Organ that is the definitive adult kidney. It replaces the earlier pronephros, which degenerates as the mesonephros becomes functional in feeding stage tadpoles.[AAO]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.639
A group of cells found in the mammalian blastocyst that give rise to the embryo. [Biology_Online][VHOG]
A small sphere of cells known as the inner cell mass lies within the trophoblast (of all eutherian mammals).[well established][VHOG]
Mass of cells inside the primordial embryo that will eventually give rise to the definitive structures of the fetus. This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred. The ICM lies within the blastocoele (more correctly termed 'blastocyst cavity', as it is not strictly homologous to the blastocoele of anamniote vertebrates) and is entirely surrounded by the single layer of cells called trophoblast.
embryoblastus; massa cellularis interna; pluriblastus senior
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.144
The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula.
An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence.
A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm.
Consider renaming this to '(sexually) immature stage'; in mammals this would include infant (nourishment from lactation) and juvenile (prepubertal no longer dependent on mother)
The stage of being a sexually immature adult animal[XAO:1000010].
Paired fin located in the abdominal position of the body.
Paired fin located in the abdominal position of the body.[TAO]
Paired fin located in the abdominal position of the body.[VSAO]
A layer of the ovarian follicles. They appear as the follicles become tertiary follicles. The theca folliculi are responsible for the production of testosterone from androstenedione in females, and indirectly the production of estrogens by supplying the neighboring granulosa cells with androstenedione that can then be used as a substrate for aromatase.
MA also has a class MA:0001524 bowel, not clear how this is different. Usage notes: this class is currently very general, encompassing the C elegans 'intestine', which is a tube of epithelial cells extending from the 'pharynx' to 'rectum'. Taxon notes: [in zebrafish] No stomach, small intestine, or large intestine can be distinguished. However, differences can be found in the morphology of the mucosa columnar epithelial cells and the number of goblet cells, suggesting functional differentiation. The intestine has numerous folds that become progressively shorter in a rostral-to-caudal direction. Proportionally, these folds are significantly larger than the finger-like intestinal villi of mammals and other amniotes (Wallace et al. 2005). Columnar-shaped absorptive enterocytes are the most numerous in the zebrafish intestinal epithelium. Goblet cells are the second most populous epithelial cell type.
Portion of the alimentary canal bounded anteriorly by the pyloric sphincter and posteriorly by the cloacal sphincter.[AAO]
Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine.
The tract of the alimentary canal. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
AO notes: in FMA, the tongue, palate etc are part of the mouth which is itself a subdivision of the face.
Cavity in which food is initially ingested and generally contains teeth, tongue and glands.[AAO]
Molecular and developmental cell lineage data suggest that the acoel mouth opening is homologous to the mouth of protostomes and deuterostomes and that the last common ancestor of the Bilateria (the 'urbilaterian') had only this single digestive opening.[well established][VHOG]
The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes teeth, gums, lips, tongue and parts of the palate.
DOI:10.1038/nature07309 Hejnol A, Martindale MQ, Acoel development indicates the independent evolution of the bilaterian mouth and anus. Nature (2008)
A complex mixture of cells suspended in a liquid matrix that delivers nutrients to cells and removes wastes. (Source: BioGlossary, www.Biology-Text.com)[TAO]
Circulating body substance which consists of blood plasma and hemoglobin-carrying red blood cells. Excludes blood analogues (see UBERON:0000179 haemolymphatic fluid).
Highly specialized circulating tissue consisting of several types of cells suspended in a fluid medium known as plasma.[AAO]
Recent findings strongly suggest that the molecular pathways involved in the development and function of blood cells are highly conserved among vertebrates and various invertebrates phyla. (...) There is now good reason to believe that, in vertebrates and invertebrates alike, blood cell lineages diverge from a common type of progenitor cell, the hemocytoblast.[well established][VHOG]
relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO]
DOI:10.1146/annurev.cellbio.22.010605.093317 Hartenstein V, Blood cells and blood cell development in the animal kingdom. Annual review of cell and developmental biology (2006)
Compared with their Ediacarian predecessor, Cambrian animals in general were characterized by their much stouter bodies. The stoutness of the body is likely due to the formation of ligaments and tendons, which in turn requires the crosslinking of collagen triple helices.[well established][VHOG]
Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ.
Nonparenchymatous organ that primarily consists of dense connective tissue aggregated into fasciculi by connective tissue. Examples: sutural ligament, radiate sternocostal ligament, ligament of liver, ovarian ligament[FMA][FMA:21496].
Note this groups both skeletal and non-skeletal ligaments. What is called a "ligament" in many AOs is actually a skeletal ligament
Portion of connective tissue that connects bone or cartilage.[TAO]
PMID:8710894 Ohno S, The notion of the Cambrian pananimalia genome. PNAS (1996)
A mucosa that is part of a colon [Automatically generated definition].
TODO - check fetus/embryo. WP: An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination. In humans, it is called an embryo until about eight weeks after fertilization (i.e. ten weeks LMP), and from then it is instead called a fetus.
Editor's note: Gilbert fig11.32 has blastocyst has giving rise to ICM and trophoblast (which in this source is a synonym for trophectoderm)
The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO].
The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP].
The term has been used in a few different ways: * It is a pair of nuclear masses which form the basal ganglia, along with the subthalamic nucleus and the substantia nigra. * It may also refer to both the basal ganglia and internal capsule collectively.[2] * According to the 1917 version of Gray's Anatomy, it is the combination of the lentiform nucleus (also known as the lenticular nucleus) and the caudate nucleus * According to BrainInfo it is a part of the basal ganglia comprising the globus pallidus and striatum
Thus, certain telencephalic characters - such as the presence of a pallium divided into lateral, dorsal, and medial formations and a subpallium divided into striatum and septum - appear to characterize all vertebrates. They are primitive characters and are homologous among all vertebrates.[well established][VHOG]
DOI:10.1146/annurev.ne.04.030181.001505, ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.487 Figure 14-10
AO notes: we place the MA term musculature here, rather than under uberon:musculature, as this seems more appropriate given the structure of MA
Anatomical system that consists of all the muscles of the body[VSAO, modified].
Anatomical system that consists of the muscles of the body.[VSAO]
Area of the occipital lobe concerned with vision.
Editor note: merge with primary visual cortex? FMA and BTO treat as distinct
The prefrontal cortex (PFC) is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas. This brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals. The most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes). Many authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. [WP,unvetted].
Region between the blastocyst and the myometrium.
development notes: As the embryo enlarges, the decidua capsularis becomes stretched and smooth. Eventually the decidua capsularis merges with the decidua parietalis, obliterating the uterine cavity
(...) while it is likely that Urbilateria lacked a complex somatic reproductive system, it is at present impossible to speculate on whether or not it possessed a true gonad, let alone any other somatic adaptations for reproduction (reference 1); Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved (reference 2).[uncertain][VHOG]
Either of paired male reproductive organs which are involved in the production of sperm and male sex hormones.[AAO]
The testes are descended in metatherian and eutherian mammals.
gonad of a male animal, produces and releases sperm.
gonad of male organism reproductive system
gonad of reproductive system of male organism
gonada of male organism reproductive system
gonada of reproductive system of male organism
male organism reproductive system gonada
reproductive system of male organism gonad
reproductive system of male organism gonada
DOI:10.1093/icb/icm052 Extavour CGM, Gray anatomy: phylogenetic patterns of somatic gonad structures and reproductive strategies across the Bilateria. Integrative and Comparative Biology (2007), DOI:10.1146/annurev.cellbio.042308.13350 DeFalco T and Capel B, Gonad morphogenesis in vertebrates: divergent means to a convergent end. Annual review of cell and developmental biology (2009)
The organs of the female reproductive system.
In vertebrates such as mammals the abdomen (belly) constitutes the part of the body between the thorax (chest) and pelvis. The region enclosed by the abdomen is termed the abdominal cavity.
Taxon notes: Vertebrate specific. In arthropods 'abdomen' is the most distal section of the body which lies behind the thorax or cephalothorax. If need be we can introduce some grouping class
Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant.
Obsoleted in ZFA. Note that embryo is not classified as an embryonic structure - an embryonic structure is only the parts of an embryo
Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue.
Primary germ layer that is the outer of the embryonic germ layers and gives rise to epidermis and neural tissue.[AAO]
The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG]
ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) Limb development and evolution, p.722
Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut.
This class was created automatically from a combination of ontologies
Primary germ layer that is the middle of the embryonic germ layers.[AAO]
Taxon notes: sponges do not seem to have a mesoderm and accordingly Amphimedon lacks transcription factors involved in mesoderm development (Fkh, Gsc, Twist, Snail)[http://www.nature.com/nature/journal/v466/n7307/full/nature09201.html]. Mesoderm may not be homologous across verteberates[UBERONREF:0000002]
The middle germ layer of the embryo, between the endoderm and ectoderm.
A double row of cells which are located at the midline from the end of gastrulations. The morphology of these cells is distinct from adjacent ectodermal cells - they are elongated such that one end remains exposed to the outside of the embryo at the mideline while the other end bissects the internalised mesoderm.
Split term? The part of the mesenchyme derived from ectoderm, especially from the embryonic neural crest from which the pigment cells, meninges, and most of the branchial cartilages develop.[TFD]
The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms)[BTO]. A large process bundle that runs along the vental mid-line extending from the ventral region of the nerve ring[WB]. The ventral cord is one of the distinguishing traits of the central nervous system of all arthropods (such as insects, crustaceans and arachnids) as well as many other invertebrates, such as the annelid worms[GO].
The ventral nerve cords make up the nervous system of some phyla of the invertebrates, particularly within the nematodes, annelids and the arthropods. It usually consists of cerebral ganglia anteriorly with the nerve cords running down the ventral ('belly', as opposed to back) plane of the organism. This characteristic is important in qualifying the difference compared to the chordates, which have a dorsal nerve cord. Ventral nerve cords from anterior to posterior (the thoracic and abdominal tagma in the arthropods) are made up of segmented ganglia that are connected by a tract of nerve fibers passing from one side to the other of the nerve cord called commissures. The complete system bears some likeness to a rope ladder. In some animals the bilateral ganglia are fused into a single large ganglion per segment. This characteristic is found mostly in the insects.
An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium.
It appears that the stomach has an ancient origin. The stomach first appears in the fish lineage. The prevertebrate chordates do not have a true stomach, whereas the cartilaginous and bony fish do. Although most fish do have a true stomach, some fish species appear to have lost the stomach secondarily. The remaining vertebrate lineages do have a true stomach (at least in the adult animal), although there is great variation in the size and shape of the stomach.[well established][VHOG]
Portion of alimentary canal with increased circular and longitudinal smooth muscle. Bounded posteriorly by the pyloric sphincter. Mucosal lining has increased folding.[AAO]
Taxon notes: We restrict this to the vertebrate specific structure - see the grouping class 'food storage organ' for analogous structures in other species. Teleosts: Zebrafish is functionally stomach-less, but may retain ontogenic footprint. Although the precise shape and size of the stomach varies widely among different vertebrates, the relative positions of the oesophageal and duodenal openings remain relatively constant. As a result, the organ always curves somewhat to the left before curving back to meet the pyloric sphincter. However, lampreys, hagfishes, chimaeras, lungfishes, and some teleost fish have no stomach at all, with the oesophagus opening directly into the intestine. The gastric lining is usually divided into two regions, an anterior portion lined by fundic glands, and a posterior with pyloric glands. Cardiac glands are unique to mammals, and even then are absent in a number of species. The distributions of these glands vary between species, and do not always correspond with the same regions as in man. Furthermore, in many non-human mammals, a portion of the stomach anterior to the cardiac glands is lined with epithelium essentially identical to that of the oesophagus. Ruminants, in particular, have a complex stomach, the first three chambers of which are all lined with oesophageal mucosa -- Stomach#In_other_animals
DOI:10.1046/j.1525-142x.2000.00076.x Smith DM, Grasty RC, Theodosiou NA, Tabin CJ, Nascone-Yoder NM, Evolutionary relationships between the amphibian, avian, and mammalian stomachs. Evolution and development (2000)
Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation
Editor notes: This class is currently a mixed bag, encompassing (1) the entirety of the mammalian aorta together with (2) the developmental and phylogenetic homologs of its segments: the ventral aorta and dorsal aortae. Taxon notes: All amniotes have a broadly similar arrangement to that of humans, albeit with a number of individual variations. In fish, however, there are two separate vessels referred to as aortas. The ventral aorta carries de-oxygenated blood from the heart to the gills; part of this vessel forms the ascending aorta in tetrapods (the remainder forms the pulmonary artery). A second, dorsal aorta carries oxygenated blood from the gills to the rest of the body, and is homologous with the descending aorta of tetrapods. The two aortas are connected by a number of vessels, one passing through each of the gills. Amphibians also retain the fifth connecting vessel, so that the aorta has two parallel arches[WP].
The main artery of the circulatory system which carries oxygenated blood from the heart to all the arteries of the body except those of the lungs.[AAO]
When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620
As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[well established][VHOG]
Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[TAO]
Part of the circulatory system responsible for pumping blood; composed of three chambers--two atria and one ventricle.[AAO]
a myogenic muscular organ found in the cardiovascular system. It is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions. The vertebrate heart is composed of cardiac muscle, which is an involuntary striated muscle tissue found only in this organ, and connective tissue. Primitive fish have a four-chambered heart; however, the chambers are arranged sequentially so that this primitive heart is quite unlike the four-chambered hearts of mammals and birds. The first chamber is the sinus venosus, which collects de-oxygenated blood, from the body, through the hepatic and cardinal veins. From here, blood flows into the atrium and then to the powerful muscular ventricle where the main pumping action takes place. The fourth and final chamber is the conus arteriosus which contains several valves and sends blood to the ventral aorta. The ventral aorta delivers blood to the gills where it is oxygenated and flows, through the dorsal aorta, into the rest of the body. (In tetrapods, the ventral aorta has divided in two; one half forms the ascending aorta, while the other forms the pulmonary artery. In the adult fish, the four chambers are not arranged in a straight row but, instead, form an S-shape with the latter two chambers lying above the former two. This relatively simpler pattern is found in cartilaginous fish and in the more primitive ray-finned fish. In teleosts, the conus arteriosus is very small and can more accurately be described as part of the aorta rather than of the heart proper. The conus arteriosus is not present in any amniotes which presumably having been absorbed into the ventricles over the course of evolution. Similarly, while the sinus venosus is present as a vestigial structure in some reptiles and birds, it is otherwise absorbed into the right atrium and is no longer distinguishable[WP].
note that we use the term 'circulatory organ' for the generic class. Taxon notes:" the ascidian tube-like heart lacks chambers....The ascidian heart is formed after metamorphosis as a simple tube-like structure with a single-layered myoepi- thelium that is continuous with a single-layered pericar- dial wall. It lacks chambers and endocardium.... The innovation of the chambered heart was a key event in vertebrate evolution, because the chambered heart generates one-way blood flow with high pressure, a critical requirement for the efficient blood supply of large-body vertebrates... all extant vertebrates have hearts with two or more chambers (Moorman and Christoffels 2003)" doi:10.1101/gad.1485706
relationship type change: differentiates_from lateral plate mesoderm (AAO:0010574) CHANGED TO: develops_from lateral plate mesoderm (UBERON:0003081)[AAO]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.481
Anatomical system containing glands which regulates bodily functions though the secretion of hormones.[AAO]
Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity.
Multicellular organisms have complex endocrine systems, allowing responses to environmental stimuli, regulation of development, reproduction, and homeostasis. Nuclear receptors (NRs), a metazoan-specific family of ligand-activated transcription factors, play central roles in endocrine responses, as intermediates between signaling molecules and target genes. The NR family includes ligand-bound and orphan receptors, that is, receptors with no known ligand or for which there is no ligand Pocket. Understanding NR evolution has been further improved by comparison of several completed genomes, particularly those of deuterostomes and ecdysozoans. In contrast, evolution of NR ligands is still much debated. One hypothesis proposes that several independent gains and losses of ligand-binding ability in NRs occurred in protostomes and deuterostomes. A second hypothesis, pertaining to the NR3 subfamily (vertebrate steroid hormone receptors and estrogen related receptor), proposes that before the divergence of protostomes and deuterostomes, there was an ancestral steroid receptor (AncSR) that was ligand-activated and that orphan receptors secondarily lost the ability to bind a ligand. (...) Our analysis reveals that steroidogenesis has been independently elaborated in the 3 main bilaterian lineages (...).[well established][VHOG]
DOI:10.1073/pnas.0812138106 Markov GV, Tavares R, Dauphin-Villemant C, Demeneix BA, Baker ME, Laudet V, Independent elaboration of steroid hormone signaling pathways in metazoans. PNAS (2009)
(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG]
Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[TAO]
Part of the central nervous system situated within the cranium and composed of both nerve cell bodies and nerve fibers.[AAO]
The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP].
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.165
Migration of neurons from the basal or striatal portions of the anterior part of the neural tube occurs to varying degrees in different vertebrate classes, but a true cerebral cortex is generally acknowledged to have made its first appearance in reptiles. The definition can be unambiguous, since 'cortex' simply implies the existence of a surface neuronal layer with an overlying 'zonal lamina' or 'molecular' layer containing dendrites and axons, which is separated from the underlying basal 'matrix' by white matter. Although reptilian cerebral cortex does indeed fulfill these conditions in certain locations, the separation from striatal structures is often indistinct, so that it may even be argued that some primitive dipnoans possess a pallium or cortex. Nevertheless, an extensive laminated layer separated by underlying white matter is well represented only in reptiles and mammals.[well established][VHOG]
The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 2–4 mm (0.08–0.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted].
DOI:10.1111/j.1749-6632.1969.tb20437.x Kruger L, Experimental analyses of the reptilian nervous system. Annals of the New York Academy of Sciences (1969)
Taxon notes: Compared to terrestial animals, the cornea [of zebrafish] is relatively flat. It consists of nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman’s membrane in mammals
transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power.
Currently this class encompasses only verteberate AOs but could in theory also include cephalopod - we may want to make a more specific class for vertebrate retina. note that this class excludes ommatidial retinas, as the retina must be part of an eyeball. Use the parent class photoreceptor array / light-sensitive tissue for arthropods
The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG]
The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995.[TAO]
The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.
DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007)
Usage notes: This class encompasses a variety of light-detecting structures from different phyla with no implication of homology, from the compound insect eye to the vertebrate camera-type eye (distinct classes are provided for each). Structure notes: Note that whilst this is classified as an organ, it is in fact more of a unit composed of different structures: in Drosophila, it includes the interommatidial bristle as a part; we consider here the vertebrate eye to include the eyeball/eye proper as a part, with the eye having as parts (when present): eyelids, conjuctiva,
Editor notes: this term should be ceded to the arthropod anatomy ontology
The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head.
Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck[FMA].
Usage notes: true necks are considered to be present when the pectoral girdle is separate from the skull - Tiktaalik is the earliest known fish to have a true neck.
Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]
Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah]
Paired, elongate, cylindrical bones of endochondral origin that extend from the pectoral girdle to the elbows.[AAO]
homologous to proximal metapterygial mesomere of pectoral appendage [Hall 2007]
ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268
In mouse, is_a cavity lining. In FMA, is_a (viscous) serous membrane (which includes mesothelium plus connective tissue). Note the MA structure should probably be associated with the mesothelium of pleura in FMA. JB/EHDAA2 argues the term 'pleura' is best used for the mesothelial lining (thus excluding connective tissue). See http://purl.obolibrary.org/obo/uberon/tracker/86
The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side[BTO].
The serous membrane that covers the lungs and lines the pleural cavity. [Kaufman_MH_and_Bard_JBL, The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.264][VHOG]
One of the two long bones of endochondral origin of the hind-epipodium; it is a straight, simple bone whose section is more or less rectangular at the ends and circular at its central portion.[AAO]
The major preaxial endochondral bone in the posterior zeugopod[Phenoscape].
Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified].
Endochondral longbone connecting the pelvic girdle with posterior zeugopodium.[VSAO]
Paired, elongate, cylindrical bones of endochondral origin that form the thighs, extending from the pelvic girdles to the knees.[AAO]
homologous to proximal metapterygial mesomere of pelvic appendage [Hall 2007].
The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance.
Brainstrem structure that has as its parts the pontine tegmentum and basal part of pons[FMA].
During the embryonic development of birds and mammals, neuroblasts migrate from the cerebellum into the ventral part of the rhombencephalon and differentiate into pontine and other nuclei, which relay information from between the cerebrum and cerebellum, and a conspicuous band of transverse fibers. This region is known as the pons. A pons does not differentiate in reptiles and anamniotes (...).[well established][VHOG]
The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. [TFD][VHOG]
The pons is not present in zebrafish. In this ontology we currently have some structures which are applicable to zebrafish appearing as parts of the pons. Currently we only include the weaker dubious_for_taxon relationship ubtil this is resolved
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.474
Most male birds (e.g., roosters and turkeys) have a cloaca (also present on the female), but not a penis. Among bird species with a penis are paleognathes (tinamous and ratites), Anatidae (ducks, geese and swans), and a very few other species (such as flamingoes). A bird penis is different in structure from mammal penises, being an erectile expansion of the cloacal wall and being erected by lymph, not blood. It is usually partially feathered and in some species features spines and brush-like filaments, and in flaccid state curls up inside the cloaca[WP]
The penis (plural penises, penes) is an external sexual organ of certain biologically male organisms, in both vertebrates and invertebrates. The penis is a reproductive organ, technically an intromittent organ, and for placental mammals, additionally serves as the external organ of urination. The penis is generally found on mammals and reptiles. [WP,unvetted].
Anatomical system that has as its parts the organs concerned with reproduction.
Anatomical system which consists of organs and tissues associated with sexual reproduction of the organism.[AAO]
Arguably, one of the most important aspects of urbilaterian organogenesis would have been gonadogenesis, since Urbilateria must have successfully generated gametes and developed a strategy for extrusion and fertilization, in order to be the ancestor of all living Bilateria.[well established][VHOG]
Editor notes: consider splitting genitalia from reproductive system
PMID:21672850 Extavour CGM, Gray anatomy: phylogenetic patterns of somatic gonad structures and reproductive strategies across Bilateria. Integrative and Comparative Biology (2007)
A passage through which ova leave the maternal body or pass to an organ communicating with the exterior of the body. [TFD][VHOG]
In all remaining vertebrates (i.e., coelacanths, lungfishes, amphibians, reptiles, birds, and mammals), the oviduct arises in ontogeny as a longitudinal, groovelike invagination of the coelomic epithelium on the lateral surface of the mesonephros.[well established][VHOG]
Usage notes: sometimes oviduct is used interchangeably with follaopian tube. Here they are different - the oviduct connects the gonad to the outside in a variety of animals. The mammal-class fallopian tube is derived from the mullerian duct and connects the gonads to the uterus. Taxon notes: in birds divided into infundibulum, magnum, isthmus, uterus, and vagina
passage from the ovaries to the outside of the body[Wikipedia:Oviduct].
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.687-688
an organ of the female reproductive tract in insects, some molluscs, oligochaeta worms and certain other invertebrates and vertebrates.[1] Its purpose is to receive and store sperm from the male, and can sometimes be the site of fertilization when the oocytes are ready.[2] Some species have multiple spermathecae, as seen in earthworms, where four pairs of spermathecae are present. One pair in 6,7,8 and 9 segments. They receive and store the spermatozoa of another earthworm during copulation.[3] They are lined with epithelium and are variable in shape; some are thin, heavily coiled tubes, others are vague outpocketings from the main reproductive tract. It is one of the many variations in sexual reproduction[WP]. an accordion-like tube that contains sperm and is the site of oocyte fertilization.
An infundibulum, uterine tube, uterus, and vagina also differentiate along the oviducts of eutherian mammals.[well established][VHOG]
Most animals that lay eggs, such as birds and reptiles, have an oviduct instead of a uterus. In monotremes, mammals which lay eggs and include the platypus, either the term uterus or oviduct is used to describe the same organ, but the egg does not develop a placenta within the mother and thus does not receive further nourishment after formation and fertilization. Marsupials have two uteruses, each of which connect to a lateral vagina and which both use a third, middle "vagina" which functions as the birth canal. Marsupial embryos form a choriovitelline "placenta" (which can be thought of as something between a monotreme egg and a "true" placenta), in which the egg's yolk sac supplies a large part of the embryo's nutrition but also attaches to the uterine wall and takes nutrients from the mother's bloodstream.
The hollow muscular organ in female mammals in which the blastocyst normally becomes embedded and in which the developing embryo and fetus is nourished. Its cavity opens into the vagina below and into a uterine tube on either side. [TFD][VHOG]
a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species. It is within the uterus that the fetus develops during gestation, usually developing completely in placental mammals such as humans and partially in marsupials such as kangaroos and opossums. Two uteruses usually form initially in a female fetus, and in placental mammals they may partially or completely fuse into a single uterus depending on the species. In many species with two uteruses, only one is functional. Humans and other higher primates such as chimpanzees, along with horses, usually have a single completely fused uterus, although in some individuals the uteruses may not have completely fused[WP].
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.678
Organ with organ cavity which connects the cervical canal of uterus to the vestibule of vagina.[FMA]
Taxon notes (via vHOG): "The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria." Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective, Third Edition (2001) Orlando Fla.: Harcourt College Publishers, p.688
The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria.[well established][VHOG]
The genital canal in the female, leading from the opening of the vulva to the cervix of the uterus. [TFD][VHOG]
a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP].
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.688
(In mammalian testis) Along the way (the sperm travel), three accessory sex glands, the seminal vesicle, prostate, and bulbourethral (Cowper's) gland, respectively, add their secretions as sperm move from the testes to the urethra.[well established][VHOG]
Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct.
Either of a pair of pouchlike glands situated on each side of the male urinary bladder that secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra. [TFD][VHOG]
Function notes: The seminal vesicles secrete a significant proportion of the fluid that ultimately becomes semen. Lipofuscin granules from dead epithelial cells give the secretion its yellowish color. About 50-70%[2] of the seminal fluid in humans originates from the seminal vesicles, but is not expelled in the first ejaculate fractions which are dominated by spermatozoa and zinc-rich prostatic fluid.
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.556
The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted].
Taxon notes (from WP): Most vertebrates have some form of duct to transfer the sperm from the testes to the urethra. In cartilaginous fish and amphibians, sperm is carried through the archinephric duct, which also partially helps to transport urine from the kidneys. In teleosts, there is a distinct sperm duct, separate from the ureters, and often called the vas deferens, although probably not truly homologous with that in humans. In cartilaginous fishes, the part of the archinephric duct closest to the testis is coiled up to form an epididymis. Below this are a number of small glands secreting components of the seminal fluid. The final portion of the duct also receives ducts from the kidneys in most species. In amniotes, however, the archinephric duct has become a true vas deferens, and is used only for conducting sperm, never urine. As in cartilaginous fish, the upper part of the duct forms the epididymis. In many species, the vas deferens ends in a small sac for storing sperm. The only vertebrates to lack any structure resembling a vas deferens are the primitive jawless fishes, which release sperm directly into the body cavity, and then into the surrounding water through a simple opening in the body wall.
The continuation of the archinephric duct, now called the deferent duct, extends caudally to the cloaca or to the part of the mammalian urethra that is derived from the cloaca.[well established][VHOG]
duct that transports sperm from the testis. In mammals this is from the epididymis.
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.670
TODO - split from exoskeleton? Also: See above sf item to see if this belongs in GO
The main structural component of arthropod cuticle is a polysaccharide, chitin, composed of N-acetylglucosamine units, together with proteins and lipids[WP].
(...) outer epithelia in all metazoan animals are homologous. (...) The ancestor of all metazoans likely had an epidermis with a basal extracellular matrix (ECM), an apical extracellular glycocalyx, and one cilium with a striated rootlet per cell.[well established][VHOG]
A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. Le Guellec et al, 2004.[TAO]
The outer epithelial layer of the external integument of the body that is derived from the embryonic epiblast.[AAO]
The outer layer of the skin[WP]. cellular, multilayered epithelium derived from the ectoderm[ZFA].
Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. In terrestrial vertebrates the epidermis often forms an outer keratinized or cornified layer, the stratum corneum. Interaction between the epideris and dermis gives rise to feathers (birds), hair and mammary glands (mammals), teeth and scales (placoid: chondrichthyans; cosmoids, ganoid, cycloid in bony fishes).
relationship loss: subclass external integument structures (AAO:0000961)[AAO]
ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.71-72
Functional system which consists of structures involved in respiration.
The anatomical system in which the exchange of oxygen and carbon dioxide between the organism and its environment.[AAO]
There is no doubt that the primitive pattern of vertebrate air-breathing is the buccal pulse pump found in actinopterygian fishes.[well established][VHOG]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.599 and Figure 18-23
An anatomical system consisting of the alimentary canal and digestive glands responsible for intake, absorption, digestion and excretion of food.[AAO]
Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes.
note that many anatomy ontologies consider gastrointestinal system synonymous with digestive system. here we follow MA in dividing digestive system into gastrointestinal and hepatobiliary. hepatobiliary includes the liver and biliary tract. species-specific AO classes are categorized according to whether liver is included. For example, XAO includes liver as part of XAO:0000125 alimentary system, so we assume this class is the more generic class
Adipose tissue is unique to vertebrates. It is found in mostmammals, birds, reptiles and amphibians, and a variety is found in some species of fish. Furthermore, in insects the fat body found in larvae as well as in adults shares some homology with adipose tissue.[well established][VHOG]
Connective tissue composed of adipocytes.
Connective tissue in which fat is stored.[TAO]
Note in FMA this is dense irregular connective tissue. Taxon notes: n humans, adipose tissue is located beneath the skin (subcutaneous fat), around internal organs (visceral fat), in bone marrow (yellow bone marrow) and in breast tissue. Adipose tissue is found in specific locations, which are referred to as adipose depots. Adipose tissue contains several cell types, with the highest percentage of cells being adipocytes, which contain fat droplets. Other cell types include fibroblasts, macrophages, and endothelial cells. Adipose tissue contains many small blood vessels.; Mice have eight major adipose depots, four of which are within the abdominal cavity. The paired gonadal depots are attached to the uterus and ovaries in females and the epididymis and testes in males; the paired retroperitoneal depots are found along the dorsal wall of the abdomen, surrounding the kidney, and, when massive, extend into the pelvis. The mesenteric depot forms a glue-like web that supports the intestines, and the omental depot, which originates near the stomach and spleen, and, when massive, extends into the ventral abdomen.
Tissue that contains adipocytes, used for cushioning, thermal insulation, lubrication (primarily in the pericardium) and energy storage.[AAO]
relationship loss: subclass connective tissue proper (AAO:0000099)[AAO]
DOI:10.1017/S0029665107005423 Haugen F, Drevon CA, The interplay between nutrients and the adipose tissue. The Proceedings of the Nutrition Society (2007)
A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)[TAO]
Anatomical system consisting of nerve bodies and nerve fibers which regulate the response of the body to external and internal stimuli.[AAO]
Nervous systems evolved in the ancestor of Eumetazoa.[well established][VHOG]
a network of specialized cells that communicate information about an organism's surroundings and itself[Wikipedia].
relationship type change: differentiates_from ectoderm (AAO:0000137) CHANGED TO: develops_from ectoderm (UBERON:0000924)[AAO]
ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.117
(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2); Taken together, our data make a very strong case that the complex molecular mediolateral architecture of the developing trunk CNS (central nervous system), as shared between Platynereis and vertebrates, was already present in their last common ancestor, Urbilateria. The concept of bilaterian nervous system centralization implies that neuron types concentrate on one side of the trunk, as is the case in vertebrates and many invertebrates including Platynereis, where they segregate and become spatially organized (as opposed to a diffuse nerve net). Our data reveal that a large part of the spatial organization of the annelid and vertebrate CNS was already present in their last common ancestor, which implies that Urbilateria had already possessed a CNS (reference 3).[well established][VHOG]
Part of the nervous system which includes the brain and spinal cord.[AAO]
The brain and spinal cord. Kimmel et al, 1995.[TAO]
The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord[GO]. The part of the nervous system which in vertebrates consists of the brain and spinal cord, to which sensory impulses are transmitted and from which motor impulses pass out, and which supervises and coordinates the activity of the entire nervous system[XAO]. Neuraxis plus retina[INCF].
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28 (reference 1), ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.165 (reference 2), DOI:10.1016/j.cell.2007.02.040 Denes AS, Jekely G, Steinmetz PRH, Raible F, Snyman H, Prud'homme B, Ferrier DEK, Balavoine G and Arendt D, Molecular architecture of annelid nerve cord supports common origin of nervous system centralization in Bilateria. Cell (2007) (reference 3)
An early step in the evolution of neural crest, therefore, may have been the origin of a specific dorsal neural cell population contributing to sensory processing; this would predate the divergence of the amphioxus and vertebrate lineages.[well established][VHOG]
Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information.
note the distinct between entire sensory system and individual system. this reconciles is_a and part_of distinctions between ssAOs
DOI:10.1073/pnas.97.9.4449 Shimeld SM and Holland PW. Vertebrate innovations. PNAS (2000)
A subset of the sensory system for the sensing of taste.
The sensory system used for the sense of taste.[AAO]
in ZFA and MA this is a subtype of sensory system. we should change sensory system to disambiguate parts and wholes
Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament.
Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes.
One of the extraembryonic fetal membranes that balloons out from the fetal midgut. [TFD][VHOG]
Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG]
Taxon notes: In therians, a structure homologous to the yolk sac is is present, but contains no yolk platelets. Instead it is filled with fluid [ISBN10:0073040584 "Vertebrates, Kardong"]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.187
(...) the earliest vertebrates possessed unjointed internal and external branchial arches, and musculature encircling the pharynx.[well established][VHOG]
A funnel-shaped fibromuscular tube that conducts food to the ESOPHAGUS, and air to the LARYNYX and LUNGS. It is located posterior to the NASAL CAVITY; ORAL CAVITY; and LARYNX, and extends from the SKULL BASE to the inferior border of the CRICOID CARTILAGE anteriorly and to the inferior border of the C6 vertebra posteriorly. It is divided into the NASOPHARYNX; OROPHARYNX; and HYPOPHARYNX (laryngopharynx)[MESH:A03.867].
A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED].
Anatomical cavity bounded by the derivatives of the branchial arches.[AAO]
Note that MA/FMA pharynx not part of digestive/alimentary system, we are consistent with this scheme
Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.[TAO]
Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills[ZFA:0000056, ZFIN:ZDB-PUB-961014-576].
The portion of the alimentary canal between the mouth and the oesophagus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: develops_from respiratory system (UBERON:0001004)[AAO]
relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: part_of respiratory system (UBERON:0001004)[AAO]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) Box essay 13.1 and Box figure I, p.502-503
AO notes: esophagus NOT part of gut in MA. part of gut in ZFA. part_of gut (via UGIT) in FMA. Consider splitting. Interspecies: The human oesophagus is 25 cm long and has a diameter of ca. 2 cm. Only little information was found on the oesophagus in rat, rabbit and pig. The oesophagus of rat (75 x 2 mm) and rabbit has no mucous glands and the cardia of the stomach has a well-developed sphincter, which prevents them from vomiting (Hebel and Stromberg, 1988; Manning et al., 1994). Morphologically the oesophagus is similar in man and pig; both are omnivores and have a non-keratinised epithelium, submucous glands and similar membrane enzymes. Like in humans, pigs can suffer from reflux oesophagitis and stress ulceration of the oesophagus. The pig oesophagus may therefore be a good model for investigation compared to the human oesophagus (Christie et al., 1995)
Anterior end of the alimentary canal lined with smooth muscle. Bounded anteriorly by a constriction in the pharynx. Bounded posteriorly by and increase in circular and/or longitudinal smooth muscle associated with the stomach.[AAO]
The few structural specializations in (adult lampreys) pharynx include complex valves on the external gill openings that direct the tidal flow, and the division of the ancestral pharynx into an oesophagus and a respiratory pharynx.[well established][VHOG]
Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993).
DOI:10.1111/j.1096-3642.1996.tb01658.x Mallatt J, Ventilation and the origin of jawed vertebrates: a new mouth. Zoological Journal of the Linnean Society (1996)
A gland that produces the saliva. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-25, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]
In air-feeding animals, the lack of water column to lubricate the food has been compensated for by the evolution of the salivary glands. These glands are present only in amniotes and are controlled by the parasympathetic system.[well established][VHOG]
currently we define saliva and salivary glands very generally in functional terms but it may be more appropriate to split this class. From WP: In most vertebrates, saliva does not contain any enzymes, consisting of mucus and water only, and its primary function is to moisten food while eating. As a result, true salivary glands are rarely found in fish or aquatic tetrapods, although there are often individual mucus-secreting cells. Amphibians have a single salivary gland, the intermaxillary gland, located in the forward part of the palate. Reptiles and birds normally have only very small glands on the lips, palate, and base of the mouth, although there are some birds with large glands, which produce a sticky saliva that helps in nest-building. The distinct parotid, submandibular, and sublingual glands are only developed in mammals.[3] The salivary glands of some species, however, are modified to produce enzymes; salivary amylase is found in many, but by no means all, bird and mammal species (including humans, as noted above). Furthermore, the venom glands of poisonous snakes, Gila monsters, and some shrews, are modified salivary glands
saliva-secreting exocrine glands of the oral cavity[GO]. The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research[WP].
ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptationm(2005) p.211
Editor notes: Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future. We may explicitly make this a developmental class. AO Notes: in FMA this class has no children.
Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon. That part of the alimentary canal which lies between the gizzard and the hind intestine.
The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG]
ISBN:978-0030259821 Ruppert EE, Fox RS, Barnes RD, Invertebrate zoology: a functional evolutionary approach (2003) p.203, ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11
Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ.
Bottom part of the pharynx, and is the part of the throat that connects to the esophagus.
The inferior portion of the pharynx, between the epiglottis and the larynx. [TFD][VHOG]
Taxon notes: In the lungfish, sharks and rays the rectum opens into the cloaca which also receives wastes (urine) from the kidneys and material from the reproductive organs. In bony fish the rectum reaches the outside environment through the anus, which is normally situated just in front the urinary and reproductive openings. However in some fish the digestive tract may be curled back on itself, and in the Electric Eel (Electrophorus electricus) the anus is situated in the fish's throat. -- http://www.earthlife.net/fish/digestion.html
The terminal portion of the large intestine between the ileo-pelvic colon and the anus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system.
Editor note: this will be ceded to the Arthropod Anatomy Ontology
The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the inital section of the rectum[FBbt]. Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs[BTO].
One of a pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain.
will be ceded to arthropod anatomy ontology
One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)[BTO].
Prominent lobed neuropils found in annelids and all arthropods except crustaceans. They are thought to be involved in olfactory associative learning and memory[MESH] Mushroom body neuropils are divided into calyces, pedunculus, and its subsequent lobes. In Drosophila these are the alpha, beta, and gamma lobes.
Taxon notes: Also in annelids. "Comparison to the verte- brate pallium reveals that the annelid mushroom bodies develop from similar molecular coordinates within a conserved overall molecular brain topology and that their development involves conserved patterning mechanisms and produces conserved neuron types that existed already in the proto- stome-deuterostome ancestors. These data indicate deep homology of pallium and mushroom bodies and date back the origin of higher brain centers to prebilaterian times" [PMID:20813265]
a neurosecretory center of the insect brain, located along the anterior midline[wiktionary]. A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons[FBbt].
A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core.
Taxon/Terminology notes: strictly speaking the term intervertebral disk [applies to intervertebral cartilage] whose gel-like core is nucleus puloposus, by this definition only in mammals
In human anatomy, the external carotid artery is a major artery of the head and neck. It arises from the common carotid artery when it bifurcates into the external and internal carotid artery.
Taxon notes: not homologous to the external carotid of zebrafish (Goodrich, 1958) - http://zfish.nichd.nih.gov/zfatlas/Intro%20Page/comparative.html; check XAO
Excretion in liquid state processed by the kidney.[FMA]
The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs[GO].
The existence of some membrane separating the pharynx from the stomach can be traced widely among the chordates. Thus amphioxus possesses an atrium by which water exits the pharynx, which has been argued (and disputed) to be homologous to structures in ascidians and hagfishes.[3] The urochordate epicardium separates digestive organs from the pharynx and heart, but the anus returns to the upper compartment to discharge wastes through an outgoing siphon (Thoracic_diaphragm#Comparative_anatomy_and_evolution)
The mammals are characterized by a diaphragm, which separates the thoracic portion of the body cavity from the abdominal region and assists in drawing air into the lungs and forcing it out. Modern reptiles lack a muscular diaphragm and it is reasonable to suppose that the diaphragm developed as a new device that made possible a large degree of oxygen intake for active animals. The change may have taken place during the transition from reptile to mammal (...).[well established][VHOG]
ISBN:978-0471384618 Colbert EH, Evolution of the vertebrates: a history of the backboned animals through time (2001) p.278
Inspiration by active expansion of the thorax evolved later, in the ancestor of reptiles, birds, and mammals. This was powered originally by the intercostal muscles (as in lizards or crocodilians) and later (in mammals only) by a muscular diaphragm.[well established][VHOG]
Intercostal muscles are several groups of muscles that run between the ribs, and help form and move the chest wall. There are three principal layers; the external intercostal muscles, which aid in quiet and forced inhalation. They originate on ribs 1-11 and have their insertion on ribs 2-12. The external intercostals are responsible for the elevation of the ribs, and expanding the transverse dimensions of the thoracic cavity. Located around the ribs the internal intercostal muscles, which aid in forced expiration (quiet expiration is a passive process). They originate on ribs 2-12 and have their insertions on ribs 1-11. The internal intercostals are responsible for the depression of the ribs decreasing the transverse dimensions of the thoracic cavity. the innermost intercostal muscle, the deep layers of the internal intercostal muscles which are separated from them by the neurovascular bundle. Both the external and internal muscles are innervated by the intercostal nerves, and are provided by the intercostal arteries and intercostal veins. Their fibers run in opposite directions. [WP,unvetted].
ISBN:978-0262112789 Kent RD, The MIT Encyclopedia of Communication Disorders (20039 p.56
Alternate definition: A scapula that is connected to a pectoral limb. Taxon notes: present in all tetrapods with even vestiges of anterior limbs, e.g., turtles & birds & mammals. Development notes: chick scapula is of dual origin and segmentally organized[ISBN:978-0-12-319060-4]
In human anatomy, the scapula, omo (Medical Latin), or shoulder blade, is the bone that connects the humerus (arm bone) with the clavicle (collar bone). The scapula forms the posterior (back) located part of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. [WP,unvetted].
Paired bony elements of endochondral origin. They are situated at the level of the jaw articulation, in a vertical position, with the suprascapular margin being dorsal and the glenoid end being ventral.[AAO]
relationship loss: has pars glenoidalis of scapula (AAO:0000753)[AAO]
relationship loss: part_of scapular area (AAO:0000935)[AAO]
Taxon notes: In humans, called the back, a large posterior area of the human body, rising from the top of the buttocks to the back of the neck and the shoulders. It is the surface opposite to the chest, its height being defined by the vertebral column (commonly referred to as the spine or backbone) and its breadth being supported by the ribcage and shoulders. The spinal canal runs through the spine and provides nerves to the rest of the body
The dorsal part of an animal, which in vertebrares includes the vertebral column. [cjm].
Pouch, connecting the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction.
Taxon notes: A cecum is present in most amniote species, and also in lungfish, but not in any living species of amphibian. In reptiles, it is usually a single median structure, arising from the dorsal side of the large intestine. Birds typically have two paired ceca, as, unlike other mammals, do hyraxes. Most mammalian herbivores have a relatively large cecum, hosting a large number of bacteria, which aid in the enzymatic breakdown of plant materials such as cellulose; in many species, it is considerably wider than the colon. In contrast, obligatory carnivores, whose diets contain little or no plant material, have a reduced cecum, which is often partially or wholly replaced by the vermiform appendix. Many fish have a number of small outpocketings, called pyloric ceca, along their intestine; despite the name they are not homologous with the cecum of amniotes, and their purpose is to increase the overall area of the digestive epithelium.[2] Some invertebrates, such as squid,[3] may also have structures with the same name, but these have no relationship with those of vertebrates.[WP] Kardong: in some herbivorous lizards, a cecum is present between small and large intestines
A comparative anatomical approach reveals three apparent morphotypes of the cecal appendix, as well as appendix-like structures in some species that lack a true cecal appendix. Cladistic analyses indicate that the appendix has evolved independently at least twice (at least once in diprotodont marsupials and at least once in Euarchontoglires), shows a highly significant (P < 0.0001) phylogenetic signal in its distribution, and has been maintained in mammalian evolution for 80 million years or longer.[well established][VHOG]
Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix[FMA:14542].
a blind-ended tube connected to the cecum, from which it develops embryologically[WP].
DOI:10.1111/j.1420-9101.2009.01809.x Smith HF, Fisher RE, Everett ML, Thomas AD, Randal Bollinger R, Parker W, Comparative anatomy and phylogenetic distribution of the mammalian cecal appendix. Journal of Evolutionary Biology (2009)
Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG]
Last portion of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body[WP] In mammals, the colon consists of four sections: the ascending colon, the transverse colon, the descending colon, and the sigmoid colon[WP]. In zebrafish, the posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. Wallace et al, 2005.
TODO: abstract this such that it legitimately covers all vertebrates
The last portion of the digestive system, it extracts water and salt from solid wastes before they are eliminated from the body.[AAO]
The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. Wallace et al, 2005.[TAO]
ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11
Note that in MA, this is a subclass of colon
Organ part which is continuous with the cecum proximally and the transverse colon distally.[FMA]
The transverse colon the longest and most movable part of the colon, passes with a downward convexity from the right hypochondrium region across the abdomen, opposite the confines of the epigastric and umbilical zones, into the left hypochondrium region, where it curves sharply on itself beneath the lower end of the spleen, forming the splenic or left colic flexure. The right colic flexure is adjacent to the liver. In its course, it describes an arch, the concavity of which is directed backward and a little upward; toward its splenic end there is often an abrupt U-shaped curve which may descend lower than the main curve. It is almost completely invested by peritoneum, and is connected to the inferior border of the pancreas by a large and wide duplicature of that membrane, the transverse mesocolon. It is in relation, by its upper surface, with the liver and gall-bladder, the greater curvature of the stomach, and the lower end of the spleen; by its under surface, with the small intestine; by its anterior surface, with the anterior layers of the greater omentum and the abdominal parietes; its posterior surface is in relation from right to left with the descending portion of the duodenum, the head of the pancreas, and some of the convolutions of the jejunum and ileum. [WP,unvetted].
The descending colon of humans passes downward through the left hypochondrium and lumbar regions, along the lateral border of the left kidney. At the lower end of the kidney it turns medialward toward the lateral border of the psoas muscle, and then descends, in the angle between psoas and quadratus lumborum, to the crest of the ilium, where it ends in the sigmoid colon. The peritoneum covers its anterior surface and sides, and therefore the descending colon is described as retroperitoneal. (The transverse colon and sigmoid colon, which are immediately proximal and distal, are intraperitoneal). Its posterior surface is connected by areolar tissue with the lower and lateral part of the left kidney, the aponeurotic origin of the transversus abdominis, and the quadratus lumborum. It is smaller in caliber and more deeply placed than the ascending colon. It has a mesentery in 33% of people, and is therefore more frequently covered with peritoneum on its posterior surface than the ascending colon (which has a mesentery in 25% of people). However, it is less likely to undergo volvulus than the ascending colon. In front of it are some coils of small intestine. [WP,unvetted].
the part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity.
The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong].
The greater curvature of the stomach. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
Pyloric antrum (antrum, lesser cul-de-sac) is the initial portion of the pyloric part of the stomach. It is near the bottom of the stomach on the left side of the pyloric sphincter, which separates the stomach and the duodenum. It may temporarily become partially or completely shut off from the remainder of the stomach during digestion by peristaltic contraction of the prepyloric sphincter; it is demarcated, sometimes, from the second part of the pyloric part of the stomach by a slight groove. [WP,unvetted].
Artery which supplies blood via branches to the gonads, oviducts, and kidneys.[AAO]
Editor notes: renal arteries vary widely even in humans. Sub-structures should be checked for taxon variability.
One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates.
The renal arteries normally arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood. Each is directed across the crus of the diaphragm, so as to form nearly a right angle with the aorta. The renal arteries carry a large portion of total blood flow to the kidneys. Up to a third of total cardiac output can pass through the renal arteries to be filtered by the kidneys. The arterial supply of the kidneys is variable and there may be one or more renal arteries supplying each kidney. It is located above the renal vein. It has a radius of approximately 0.25cm, 0.26 cm at the root. The measured mean diameter can differ depending on the imaging method used. For example, the diameter was found to be 5.04 ± 0.74 mm using ultrasound, but 5.68 ± 1.19 mm using angiography. [WP,unvetted].[Wikipedia]
AO notes: FMA has [set of?] [aggregated,small] lymphoid [follice,nodule] of [colon, SI, I, etc] - Pp is a syn for Aggregated lymphoid follicle of small intestine; but MA uses Pp as covering both SI and LI. MA also includes follicle as a part. WP says duodenum and jejunum lack PPs. Taxon notes: Reptiles have accumulations of lymphocytes in their guts that may be primitive Peyer's patches (Zapata and Solas).
aggregated lymphoid follicle of intestine
aggregations of lymphoid tissue that are usually found in the lowest portion of the small intestine ileum in humans; as such, they differentiate the ileum from the duodenum and jejunum // nodular lymphoid structures on the serosal surface of the small intestine.
noduli lymphoidei aggregati intestini tenuis
An epithelial tube that is part of the nephron, the functional part of the kidney.
note that in ISBN10:0073040584 "Vertebrates, Kardong", the uriniferous tubule contains the nephron, so we have a separate class, rather than using a synonym, as in MA
All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG]
Situated along the perimeter of the adrenal gland, the adrenal cortex mediates the stress response through the production of mineralocorticoids and glucocorticoids, including aldosterone and cortisol respectively. It is also a secondary site of androgen synthesis. [WP,unvetted].
Taxon notes: Kardong states that mammals are the first to have distinct cortext and medulla, but this contradicts XAO
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.518 and Figure 15-9
The adrenal medulla is part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex. It is the innermost part of the adrenal gland, consisting of cells that secrete epinephrine, norepinephrine, and a small amount of dopamine in response to stimulation by sympathetic preganglionic neurons. Composed mainly of hormone-producing chromaffin cells, the adrenal medulla is the principal site of the conversion of the amino acid tyrosine into the catecholamines adrenaline (epinephrine), noradrenaline (norepinephrine), and dopamine[WP,unvetted].
A saccular organ in which urine accumulates before discharge from the body. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]
Anatomical structure which consists of a membranous sac used to temporarily store urine until it is excreted from the body.[AAO]
In tetrapods, the urinary bladder arises as an outpocketing of the cloaca. (...) The tetrapod urinary bladder appears first among amphibians and is present in Sphenodon, turtles, most lizards, ostriches among birds, and all mammals.[well established][VHOG]
distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP].
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.577-78
An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. The mature pancreas of higher vertebrates and mammals comprises two major functional units: the exocrine pancreas, which is responsible for the production of digestive enzymes to be secreted into the gut lumen, and the endocrine pancreas, which has its role in the synthesis of several hormones with key regulatory functions in food uptake and metabolism. The exocrine portion constitutes the majority of the mass of the pancreas, and contains only two different cell types, the secretory acinar cells and the ductular cells. The endocrine portion, which comprises only 1–2% of the total mass, contains five different cell types, which are organized into mixed functional assemblies referred to as the islets of Langerhans[PMID].
Organ which secretes a fluid containing enzymes that aid in the digestion of food.[AAO]
taxon notes: As a secretory organ serving exocrine and endocrine functions, the pancreas is specific to the vertebrates[PMID:16417468] Hagfishes and lampreys are unique in the complete separation of their endocrine pancreas (islet or- gan) and their exocrine pancreas (50). The endocrine and exocrine pancreas are coassociated in crown gnathostomes (50). In Branchiostoma and Ciona, there is no diverticulum as there is in hagfishes, lampreys, and gnathostomes, only dispersed insulin-secreting cells in the walls of the gastrointestinal tract (51, 52) [PMID:20959416]. The zebrafish does not have a discrete pancreas. Exocrine pancreatic tissue can be found scattered along the intestinal tract (Figures 16 and 17 ). The acinar structure of the exocrine pancreas is very similar to that of mammals and comprises cells with a very dark, basophilic cytoplasm
Note that this is_a hip bone in MA. Taxon notes: All reptiles have an ilium except snakes, although some snake species have a tiny bone which is considered to be an ilium[WP]
Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad].
Paired, rodlike endochondral bones that constitute the anterior pelvic girdle.[AAO]
Taxon notes: nimals that have estrous cycles reabsorb the endometrium if conception does not occur during that cycle. Animals that have menstrual cycles shed the endometrium through menstruation instead. AO notes: in FMA this is subdivided into basal and outer. In MA there is a single child term, endometrium epithelium
The maternal part of the placenta (of eutherian mammals) is the vascularized and glandular uterine lining, or endometrium.[well established][VHOG]
The mucous membrane lining the uterus. [TFD][VHOG]
inner mucous membrane of the mammalian uterus.
In all mammals, the uterus develops as a specialization of the paramesonephric or Müllerian ducts, which gives rise to the infundibula, oviducts, uterus, cervix, and anterior vagina. Morphogenetic events common to development of all uteri include: 1) differentiation and growth of the myometrium, 2) differentiation and morphogenesis of the endometrial glands, and 3) organization and stratification of endometrial stroma. Uterine development is initiated in the fetus, but is only completed postnatally with differentiation and development of the endometrial glands.[well established][VHOG]
The inner layer of the uterine wall is the endometrium or uterine lining, and the outer layer the serosa or perimetrium. The myometrium stretches (the smooth muscle cells expand in both size and number[1]) during pregnancy to allow for the harboring of the pregnancy, and contracts in a coordinated fashion during the process of labor. After delivery the myometrium contracts to expel the placenta and reduce blood loss.
The muscular wall of the uterus. [TFD][VHOG]
middle layer of the uterine wall consisting of smooth muscle cells and supporting stromal and vascular tissue.
PMID:15471813 Spencer TE, Bazer FW, Uterine and placental factors regulating conceptus growth in domestic animals. Journal of Animal Science (2004)
A narrow, tightly-coiled tube connecting the efferent ducts from the rear of each testicle to its vas deferens.
Taxon notes: A similar, but probably non-homologous, structure is found in cartilaginous fishes[WP]. Kardong has epididymis in elasmobranch.Structures notes: Typically divided into three main regions. In reptiles, there is an additional canal between the testis and the head of the epididymis, which receives the various efferent ducts. This is, however, absent in all birds and mammals. The epididymis is covered by a two layered pseudostratified epithelium. The epithelium is separated by a basement membrane from the connective tissue wall which has smooth muscle cells.
Taxon notes: mouse sciatic nerve origins predominantly from the third lumbar (L3) and L4 spinal nerves, unlike the L4 and L5 in rats - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700063/
The sciatic nerve (also known as the ischiatic nerve) is a large nerve in humans and other animals. It begins in the lower back and runs through the buttock and down the lower limb. It is the longest and widest single nerve in the human body. The sciatic supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. In humans, it is derived from spinal nerves L4 through S3. It contains fibres from both the anterior and posterior divisions of the lumbosacral plexus. [WP,edited].
In male human anatomy, the foreskin is a retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. It is also described as the prepuce, a technically broader term that also includes the clitoral hood in women, to which the foreskin is embryonically homologous. [WP,unvetted].
Adipose tissue, cells of which contain a single large lipid droplet.[FMA[FMA:FMA]]
Connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels[MP,modified]
A thermogenic form of adipose tissue that is composed of brown adipocytes[MP,modified]
Adipose tissue, cells of which contain multiple small lipid droplets.[FMA[FMA:FMA]]
The anus and surrounding regions. Encompasses both internal and external regions, where present
AO notes: the FMA def states that this is subarachnoid spaces only. ZFA def states subarachnoid spaces and brain ventricles, but not SC (and has part_of to brain). Circulation: It circulates from the lateral ventricles to the foramen of Monro (Interventricular foramen), third ventricle, aqueduct of Sylvius (Cerebral aqueduct), fourth ventricle, foramen of Magendie (Median aperture) and foramina of Luschka (Lateral apertures), subarachnoid space over brain and spinal cord. It should be noted that the CSF moves in a pulsatile manner throughout the CSF system with nearly zero net flow. CSF is reabsorbed into venous sinus blood via arachnoid granulations.
In vertebrates, at early stages of Central Nervous System (CNS) development, the architecture of the brain primordium reveals the presence of the cavity of brain vesicles, which is filled by Embryonic Cerebro-Spinal Fluid (E-CSF). (...) Rat and chick E-CSF proteomes are similar, although rat is more complex in certain groups of proteins, e.g., apolipoproteins, which may be involved in the control of neural diversity, and has soluble enzymes present, just like adult human CSF, but unlike chick E-CSF, revealing phylogenetic brain differences between these groups of vertebrates.[uncertain][VHOG]
Portion of organism substance that is a clear fluid that occupies the subarachnoid space and the ventricular system around and inside the brain.[TAO]
a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord.
DOI:10.1021/pr050213t Parada C, Gato A, Bueno D, Mammalian embryonic cerebrospinal fluid proteome has greater apolipoprotein and enzyme pattern complexity than the avian proteome. Journal of Proteome Research (2005)
The biceps femoris is a muscle of the posterior (the back) thigh. As its name implies, it has two parts, one of which (the long head) forms part of the hamstrings muscle group. [WP,unvetted].
The quadriceps femoris, also called simply the quadriceps, quadriceps extensor, quads, is a large muscle group that includes the four prevailing muscles on the front of the thigh. It is the great extensor muscle of the knee, forming a large fleshy mass which covers the front and sides of the femur. It is the strongest and leanest muscle in the human body. It is subdivided into four separate portions or 'heads', which have received distinctive names: Rectus femoris occupies the middle of the thigh, covering most of the other three quadriceps muscles. It originates on the ilium. It is named from its straight course. The other three lie deep to rectus femoris and originate from the body of the femur, which they cover from the trochanters to the condyles: Vastus lateralis is on the lateral side of the femur (i.e. on the outer side of the thigh). Vastus medialis is on the medial side of the femur (i.e. on the inner part thigh). Vastus intermedius lies between vastus lateralis and vastus medialis on the front of the femur (i.e. on the top or front of the thigh). All four parts of the quadriceps muscle attach to the patella (knee cap) via the quadriceps tendon. The quadriceps is also involved in Lombard's Paradox. The proper plural form of the adjective quadriceps is quadricipes, a form not in general use; instead, quadriceps is used in both singular and plural (i.e. , when referring to both legs). The form quadricep [sic], though common even in professional contexts, is incorrect. The error may derive from a mistaken belief that quadriceps is a plural noun (rather than an adjective in the singular), since English typically forms its plurals with the addition of the letter s to the end of a word stem. [WP,unvetted].
The quadriceps is a collective term for the rectus femoris and the three heads of the vastus (lateralis, medialis, intermedius). [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.391][VHOG]
The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutæus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted].
TODO: in MA this is asserted to be part_of BOTH frontal and parietal cortex. in ABA these are disjoint. FMA makes no commitment beyond cerebral cortex. Wikipedia says frontal lobe. Check if species difference or difference in definition. Removed relationship: part_of UBERON:0001872
a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). The human primary motor cortex is located in the dorsal part of the precentral gyrus and the anterior bank of the central sulcus. The precentral gyrus is in front of the postcentral gyrus from which it is separated by the central sulcus. Its anterior border is the precentral sulcus, while inferiorly it borders to the lateral fissure (Sylvian fissure). Medially, it is contiguous with the paracentral lobule.
the area of the frontal lobe that is involved with integration of voluntary movements and with speech.[MP]
In human anatomy, the tibialis anterior is a muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki].
A muscle of the shank. In mammals it has two heads[Kardong]. It runs from its two heads just above the knee to the heel, and is involved in standing, walking, running and jumping. Along with the soleus muscle it forms the calf muscle. [WP].
The most prominent ventral muscle of the shank is the gastrocnemius, the 'calf' muscle. In mammals, it has two heads, resulting from the fusion of two different phylogenetic predecessors.[well established][VHOG]
The most superficial calf muscle in the posterior part of the leg. [TFD][VHOG]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.393
a powerful muscle in the back part of the lower leg (the calf). It runs from just below the knee to the heel, and is involved in standing and walking. It is closely connected to the gastrocnemius muscle and some anatomists consider them to be a single muscle, the triceps surae. Its name is derived from the solefish whose shape it resembles. The soleus is located in the superficial posterior compartment of the leg. Not all mammals have a soleus muscle; one familiar species that lacks the soleus is the dog.
Part of the subclavian artery which supplies blood to the forelimb.[AAO]
The brachial artery is the major blood vessel of the (upper) arm. It is the continuation of the axillary artery beyond the lower margin of teres major muscle. It continues down the ventral surface of the arm until it reaches the cubital fossa at the elbow. It then divides into the radial and ulnar arteries which run down the forearm. In some individuals, the bifurcation occurs much earlier and the ulnar and radial arteries extend through the upper arm. The pulse of the brachial artery is palpable on the anterior aspect of the elbow, medial to the tendon of the biceps, and, with the use of a stethoscope and sphygmomanometer (blood pressure cuff) often used to measure the blood pressure. The brachial artery is closely related to the median nerve; in proximal regions, the median nerve is immediately lateral to the brachial artery. Distally, the median nerve crosses the medial side of the brachial artery and lies anterior to the elbow joint. [WP,unvetted].
brachial part of trunk of subclavian artery
Anatomical system consisting of multiple elements and tissues that provides physical support.[TAO]
Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system.
Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system.[VSAO]
By taking a holistic approach, integration of the evidence from molecular and developmental features of model organisms, the phylogenetic distribution in the 'new animal phylogeny' and the earliest fossilized remains of mineralized animal skeletons suggests independent origins of the skeleton at the phylum level.[debated][VHOG]
Note that GO defines skeletal system very generically: The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) GO:0001501; however, all annotations are to vertebrates
System that provides physical support to the organism.[AAO]
DOI:10.1159/000324245 Donoghue PCJ, Sansom IJ, Origin and early evolution of vertebrate skeletonization. Microscopy research and technique (2002)
Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA].
editor note - FMA:24216 present in FMA1, but gone in subsequent versions
One of the two long bones of endochondral origin of the hind-epipodium; it is a rather more slender bone than the tibia but of about the same length.[AAO]
The major postaxial endochondral bone in the posterior zeugopod[Phenoscape].
Naming conventions for pod terms under discussion within phenoscape group
The elbow is the region surrounding the elbow-joint—the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific].
A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod.
(...) endochondral elements of the early tetrapod shoulder develop from two centers of ossification, giving rise to a scapula and a 'coracoid'.[well established][VHOG]
AO notes: In FMA, the shoulder is part of the pectoral girdle region. in MA, shoulder structures like shoulder joints, bones, nerves etc are part of the shoulder and the forelimb. E.g. humerus is a shoulder bone
In human anatomy, the shoulder joint comprises the part of the body where the humerus attaches to the scapula. The shoulder refers to the group of structures in the region of the joint. It is made up of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone) as well as associated muscles, ligaments and tendons. The articulations between the bones of the shoulder make up the shoulder joints. There are two kinds of cartilage in the joint. The first type is the white cartilage on the ends of the bones (called articular cartilage) which allows the bones to glide and move on each other. When this type of cartilage starts to wear out (a process called arthritis), the joint becomes painful and stiff. The labrum is a second kind of cartilage in the shoulder which is distinctly different from the articular cartilage. This cartilage is more fibrous or rigid than the cartilage on the ends of the ball and socket. Also, this cartilage is also found only around the socket where it is attached. The shoulder must be flexible for the wide range of motion required in the arms and hands and also strong enough to allow for actions such as lifting, pushing and pulling. The compromise between these two functions results in a large number of shoulder problems not faced by other joints such as the hip. [WP,unvetted].
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.332
A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.[TAO]
A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO].
A vessel that contains or conveys lymph.[AAO]
Tetrapods have evolved distinct lymphatic systems, in which lymphatic capillaries help drain most of the tissues of the body.[well established][VHOG]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.627
A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA]
Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus.[AAO]
We use a generic definition that includes the deltoideus as represented in AAO: 'Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus'.
The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation. Since in humans the knee supports nearly the whole weight of the body, it is the joint most vulnerable both to acute injury and the development of osteoarthritis. [WP,unvetted].
A joint that connects the hindlimb autopod and zeugopod skeletons.
Taxon notes: todo - accurately represent different types of ankle joint
The thoracic aorta is contained in the posterior mediastinal cavity. It begins at the lower border of the fourth thoracic vertebra where it is continuous with the aortic arch, and ends in front of the lower border of the twelfth thoracic vertebra, at the aortic hiatus in the diaphragm where it becomes the abdominal aorta. At its commencement, it is situated on the left of the vertebral column; it approaches the median line as it descends; and, at its termination, lies directly in front of the column. The vessel describes a curve which is concave forward; as the branches given off from it are small, its diminution in size is insignificant. It has a radius of approximately 1.16 cm. [WP,unvetted].
Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted].
Editors note: Many of the branches of the abdominal aorta in mammals may be branches of the dorsal aorta in other vertebrates
The brachiocephalic artery (or brachiocephalic trunk or innominate artery) is an artery of the mediastinum that supplies blood to the right arm and the head and neck. It is the first branch of the aortic arch, and soon after it emerges, the brachiocephalic artery divides into the right common carotid artery and the right subclavian artery. There is no brachiocephalic artery for the left side of the body. The left common carotid, and the left subclavian artery, come directly off the aortic arch. However, there are two brachiocephalic veins. [WP,unvetted].
Each of two arteries starting at the bifurcation of the common carotid arteries through which blood circulates to many structures and organs in the head. [TFD][VHOG]
In human anatomy, the internal carotid artery is a major artery of the head and neck that helps supply blood to the brain. [WP,unvetted].
One of the major arteries of the head, it is the as the cranial continuation of the aortic arches and the dorsal aorta. It curves ventrally before resuming a dorsal course as it enters the head proper, and it lies ventral to the internal jugular vein. The internal carotid artery gives off palatine, ophthalmic, and cerebral branches by stage NF stage 41.[AAO]
Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by masseteric nerve branches, and attaches to mandible and zygomatic arch.[FEED]
The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG]
The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati)[VHOG]
jaw muscle of therapsids which permits the longitudinal, grinding, motions of the jaw. The masseter is derived from the m. adductor mandibulae externus, which originates in the adductor chamber (in the temporal fenestra) and inserts on the coronoid process and internal surface of the lower jaw.[Palaeos].
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.333-334 and same reference Table 10-4
AO notes: BTO and MA consider this part of the eye; we follow them here (inferred from skeletal muscle). Not clear if omission from FMA is deliberate. Editor notes: todo - resolve discrepancies in which muscles are considered extra-ocular. Taxon notes: Mammals have 7 extra-ocular muscles, but humans lack the M. retractor bulbi. Note in ZFA this is the set of muscles.
Any of the six small muscles that control movement of the eyeball within the socket. [TFD][VHOG]
Muscles surrounding the eye (bulbus oculi) and having an effect on eye movements.[AAO]
Skeletal muscle derived from cranial mesoderm and controls eye movements.
The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these (extrinsic ocular) muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.331
An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition].
Editor notes: Note that in FMA an artery is a tree, whereas AEO/JB defines it as a tube; FMA includes a separate class for what it calls the trunk. Classification in this ontology may currently (Jan 2012) represent a mix of both schemes, although we are gradually revising in the direction of the AEO scheme.
Part of the circulatory system composed of blood vessels which carry oxygenated blood away from the heart to the rest of the body.[AAO]
The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG]
DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006)
Any of the tubular branching vessels that carry blood from the capillaries toward the heart.
Part of the circulatory system composed of blood vessels which carry blood from other organs, tissues, and cells to the heart.[AAO]
TODO - check with MA - vein vs venous blood vessel
Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw).
Nerve consists of motor and sensory components. Ganglion cells of the sensory component form the proximal part of the trigeminal (Gasserian) ganglion. From the ganglion 3 major rami innervate jaws, snout, and buccal roof.[AAO]
Taxon notes: the ophthalmic usually usually merges with the other two. In some vertebrates, the ophthalmic emerges from the brain separately[Kardong] The trigeminal nerve has 3 branches in mammals - similar branches are present in nonmammalian vertebrates, but in some a separate profundus nerve that corresponds to opthalmic branch in mammls[ISBN10:0471888893]
We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.625
The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted].
A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995.
A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995.[TAO]
A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton.
Editor notes: consider merging with dentary - for now we make it a mammal-specific subclass. Terminology notes: 'mandible' also refers to either the upper OR lower part of the beak in birds. AO notes: Note in ZFA 'mandible' is a syn for the ventral mandibular arch, which is a portion of the 1st pharyngeal arch; however the term 'mandibular symphysis' refers to the dentary
Part of the ear external to the tympanum (eardrum). It consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO].
Some species, like Amolops tormotus (Feng et al. 2006), have a cavity in front of the tympanic membrane which is considered to be an ear canal and thus an outer ear. (...) The ancestral lineage of amphibians separated from the mammalian lineage, approximately 350 million years ago, in the paleozoic era. Many of the important developments in the auditory systems emerged after the ancestral paths separated (Manley and Clack 2003). This implies that shared features, like the tympanic middle ear, developed independently in different vertebrate lineages.[uncertain][VHOG]
The external part of the organ, which consists of an outer portion (external auditory meatus) which leads to the tympanum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
DOI:10.1007/s00359-008-0327-1 Schoffelen RLM, Segenhout JM, Van Dijk P, Mechanics of the exceptional anuran ear. Journal of Comparative Physiology A (2008)
Editor notes: resolve facial VII vs geniculate (see EHDAA2)
The geniculate ganglion is an L-shaped collection of fibers and sensory neurons of the facial nerve located in the facial canal of the head. It receives fibers from the motor, sensory, and parasympathetic components of the facial nerve and sends fibers that will innervate the lacrimal glands, submandibular glands, sublingual glands, tongue, palate, pharynx, external auditory meatus, stapedius, posterior belly of the digastric muscle, stylohyoid muscle, and muscles of facial expression. Sensory and parasympathetic inputs are carried into the geniculate ganglion via the nervus intermedius. Motor fibers are carried via the facial nerve proper. The greater petrosal nerve, which carries sensory fibers as well as preganglionic parasympathetic fibers, emerges from the anterior aspect of the ganglion. The geniculate ganglion is one of several ganglia of the head and neck. Like the others, it is a bilaterally distributed structure, with each side of the face having a geniculate ganglion. [WP,unvetted].
These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG]
DOI:10.1046/j.1469-7580.2001.19910133.x Graham A. The development and evolution of the pharyngeal arches. J Anat (2001)
TODO: check claw vs nail. A primate's nail consists of the unguis alone; the subunguis has disappeared.
a horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP].
Editor note: split out MA ter,. Note the MA term is part of the CNS. This needs to be checked w.r.t relationship between ganglia and the PNS, as the PNS and CNS are spatially disjoint. also meaning of MA term is not clear (appears to be union of nerve and ganglion, but MA 'cranial nerve' is unconnected)
Ganglion which is located in the head.[TAO]
The fibers of the oculomotor nerve arise from a nucleus in the midbrain, which lies in the gray substance of the floor of the cerebral aqueduct and extends in front of the aqueduct for a short distance into the floor of the third ventricle. From this nucleus the fibers pass forward through the tegmentum, the red nucleus, and the medial part of the substantia nigra, forming a series of curves with a lateral convexity, and emerge from the oculomotor sulcus on the medial side of the cerebral peduncle. The nucleus of the oculomotor nerve does not consist of a continuous column of cells, but is broken up into a number of smaller nuclei, which are arranged in two groups, anterior and posterior. Those of the posterior group are six in number, five of which are symmetrical on the two sides of the middle line, while the sixth is centrally placed and is common to the nerves of both sides. The anterior group consists of two nuclei, an antero-medial and an antero-lateral . The nucleus of the oculomotor nerve, considered from a physiological standpoint, can be subdivided into several smaller groups of cells, each group controlling a particular muscle. A nearby nucleus, the Edinger-Westphal nucleus, is responsible for the autonomic functions of the oculomotor nerve, including pupillary constriction and lens accommodation. [WP,unvetted].
A mobile mass of muscular tissue that is covered with mucous membrane, occupies much of the cavity of the mouth, forms part of its floor, bears the organ of taste, and assists in chewing and swallowing. [TFD][VHOG]
A muscular organ in the floor of the mouth.
Most adult amphibians have a tongue, as do all known reptiles, birds and mammals. Thus it is likely that the tongue appeared with the establishment of tetrapods and this structure seems to be related, to some extant, to the terrestrial lifestyle.[well established][VHOG]
Muscular organ in the floor of the mouth.[FEED]
The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech[GO][GO:0043586].
editor notes - in MA the tongue is part of the oral region, which in uberon is treated as the oral opening. consider revising oral opening - oral region equivalence. Taxon notes: Many species of fish have small folds at the base of their mouths that might informally be called tongues, but they lack a muscular structure like the true tongues found in most tetrapods. Development notes: The tongue has contributions from all pharyngeal arches which changes with time. The tongue initially begins as swelling rostral to foramen cecum, the median tongue bud.. tongue muscles derive from the somites - http://php.med.unsw.edu.au/embryology/index.php?title=Tongue_Development#Pharyngeal_Arch_Contributions
DOI:10.1046/j.1469-7580.2002.00073.x Iwasaki S, Evolution of the structure and function of the vertebrate tongue. J Anat (2002)
One of the three anatomic divisions of the pharynx that lies posterior to the mouth and is continuous above with the nasopharynx and below with the laryngopharynx. It extends behind the mouth from the soft palate above to the level of the hyoid bone below and contains the palatine and lingual tonsils. [TFD][VHOG]
The Oropharynx (oral part of the pharynx) reaches from the Uvula to the level of the hyoid bone. It opens anteriorly, through the isthmus faucium, into the mouth, while in its lateral wall, between the two palatine arches, is the palatine tonsil. [WP,unvetted].
Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. The uvula, hanging from the end of the soft palate, is responsible for the sound of snoring. Touching the uvula or the end of the soft palate evokes a strong gag reflex in most people.
Either of two major salivary glands situated in the neck near the lower edge of each side of the mandible and emptying into the submandibular duct. [TFD][VHOG]
The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG]
The paired submandibular glands (submaxillary glands) are salivary glands located beneath the floor of the mouth. In humans, they account for 70% of the salivary volume and weigh about 15 grams. [WP,unvetted].
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.525
(In anura) a dorsal pair of arytenoid cartilages (...), which support vocal cords, and a ventral pair (often fused) of cricoid cartilage (...). These cartilages are regarded as derivatives of posterior visceral arches of ancestors. Together they constitute the larynx, a structure characteristic of tetrapods. (...) (In mammals) Paired arytenoid cartilages help support and control the vocal cords. The cricoid cartilage is single. Two additional cartilages are present that are lacking in other vertebrates: a large ventral thyroid cartilage (...) and a cartilage in the epiglottis.[well established][VHOG]
An anatomical cluster consisting of the epiglottus, the arytenoid cartilages, the thyroid cartilage, the cricoid cartilage and the muscles, membranes, and ligaments connecting them, and also of the mucosal covering these structures.[FEED]
Anatomical structure consisting of a narrowly triangular chamber supported by a series of semicircular cartilages in which part of the sound-production system is located.[AAO]
Heterogeneous cluster that connects the pharynx to the tracheobronchial tree[FMA].
ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.239-241
Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart).
Nerve consisting of branchiomotor and visceral efferent fibers which branch and innervate the smooth muscles and glands of the heart, lungs, esophagus, and stomach as well as some throat muscles. Sensory fibers supply mucosa of the mouth and pharynx.[AAO]
Taxon notes: The avian iris and ciliary body undergoes a transition from smooth-to-striated muscle during embryonic development - dx.doi.org/10.1006/dbio.1998.9019
The opaque muscular contractile diaphragm suspended in the aqueous humour in front of the lens of the eye. The organ is perforated by the pupil and continues peripherally with the ciliary body. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
a membrane in the eye, responsible for controlling the amount of light reaching the retina. The iris consists of pigmented fibrovascular tissue known as a stroma. It is the most forward portion of the eye and the only one seen on superficial inspection. The stroma connects a sphincter muscle (sphincter pupillae), which contracts the pupil, and a set of dilator muscles (dilator pupillae) which open it. The back surface is covered by a heavily pigmented epithelial layer two cells thick (the iris pigment epithelium), but the front surface has no epithelium. The high pigment content blocks light from passing through the iris and restricts it to the pupil. The outer edge of the iris, known as the root, is attached to the sclera and the anterior ciliary body. The iris and ciliary body together are known as the anterior uvea. Just in front of the root of the iris is the region through which the aqueous humour constantly drains out of the eye, with the result that diseases of the iris often have important effects on intraocular pressure, and indirectly on vision. Depending on the amount of light, the iris makes the pupil larger or smaller.
Portion of tissue comprised of four to six layers of nonkeratinized, stratified squamous cells and represents approximately 60% of the thickness of the cornea.[TAO]
Taxon notes: In zebrafish: nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman’s membrane in mammals
The corneal epithelium (epithelium corneæ anterior layer) is made up of epithelial tissue and covers the front of the cornea. It consists of several layers of cells. The cells of the deepest layer are columnar; then follow two or three layers of polyhedral cells, the majority of which are prickle cells similar to those found in the stratum mucosum of the cuticle. Lastly, there are three or four layers of squamous cells, with flattened nuclei. [WP,unvetted].
(...) we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya (reference 1); Although the eye varies greatly in adaptative details among vertebrates, its basic structure is the same in all. The human eye is representative of the design typical for a tetrapod (reference 2).[well established][VHOG]
The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted].
The small blind spot on the surface of the retina. It is the point where the fibers of the retina leave the eye and become part of the optic nerve. [TFD][VHOG]
DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007), ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.424 and p.426 and p.429 and Figure 12-24
The conjunctiva is a clear mucous membrane consisting of cells and underlying basement membrane that covers the sclera (white part of the eye) and lines the inside of the eyelids. It is made of epithelial tissue. [WP,unvetted].
Lobular organ the parenchyma of which consists of glandular acini which communicate the lacrimal sac. Examples: There only two instances, right lacrimal and left lacrimal glands[FMA]. The lacrimal glands are paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film. They are situated in the upper, outer portion of each orbit. Inflammation of the lacrimal glands is called dacryoadenitis[WP].
The preorbital gland is a paired exocrine gland found in many species of hoofed animals, which is homologous to the lacrimal gland found in humans. These glands are trenchlike slits of dark blue to black, nearly bare skin extending from the medial canthus of each eye. They are lined by a combination of sebaceous and sudoriferous glands, and they produce secretions which contain pheromones and other semiochemical compounds. Ungulates frequently deposit these secretions on twigs and grass as a means of communication with other animals. The preorbital gland serves different roles in different species. Pheromone-containing secretions from the preorbital gland may serve to establish an animal's dominance (especially in preparation for breeding), mark its territory, or simply to produce a pleasurable sensation to the animal. Because of its critical role in scent marking, the preorbital gland is usually considered as a type of scent gland. A further function of these glands may be to produce antimicrobial compounds against skin pathogens. Antimicrobial compounds found in these glands may be biosynthesized by the animal itself, or by microorganisms that live in these glands[Wikipedia:Preorbital_gland].
Editor notes: FMA has a 3-level breakdown of jaws into: region, jaw (skeleton+gums), skeleton.
The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001].
A mammalian salivary gland located caudal to the ear. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-22, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]
The mouse parotid, exorbital lacrimal gland and exocrine pancreas have similar histological appearances[ISBN10:0123813611]
The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted].
A spiral-shaped cavity in the petrous portion of the temporal bone of the inner ear, containing the nerve endings essential for hearing and forming one of the divisions of the labyrinth. [TFD][VHOG]
AO notes: sources vary in connection to bony labyrinth. Taxon notes: The association with 'lagena' in frog and fish comes from HOG, although HOG is inconsistent here, associating lagena with XAO cochlea and ZFA cochlear duct. NBK53175 says: "In contrast, the ventrally located auditory chambers have undergone more extensive evolutionary modifications. The saccule and lagena are prominent auditory organs in fish but the saccule has a vestibular role in mammals and birds, and the lagena is absent in mammals. The primary au- ditory organ in mammals and birds is the cochlea, which has no known counterpart in amphibians and fish (Riley and Phillips, 2003)"
Because achieving high sensitivity is generally advantageous for auditory organs, it is not surprising that evidence for cochlear amplification is also seen in nonmammals. Spontaneous otoacoustic emissions (SOAEs) are narrow-band sound signals emitted from the inner ear, and it is generally assumed that their energy derives from the hair-cell molecular motors underlying cochlear amplification. However, all terrestrial vertebrates studied so far (including amphibians) show very similar SOAEs. The most parsimonious explanation for the universality of this phenomena is that some kind of amplifying mechanism is at least as old as land vertebrates themselves.[well established][VHOG]
The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted].
DOI:10.1016/S0959-4388(98)80033-0 Manley GA, Koeppl C, Phylogenetic development of the cochlea and its innervation. Current Opinion in Neurobiology (1998)
Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation.
The auditory (hearing) and vestibular (balance) organ of the fish, equivalent to the inner ear of amniotes. (See Anatomical Atlas entry for ear by T. Whitfield.)[TAO]
The labyrinth, or inner ear, evolved very early in vertebrate history and, with many variations in configuration but none of basic design and function, has been retained by all vertebrates.[well established][VHOG]
ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.366
One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]
Part of the telencephalon consisting of either of the two smooth, elongated halves of the cerebrum.[AAO]
The presence of paired evaginated hemispheres and olfactory bulbs in both agnathan and gnathostome radiations suggests that such hemispheres were also present in the common ancestor.[well established][VHOG]
DOI:10.1146/annurev.ne.04.030181.001505 Northcutt RG, Evolution of the telencephalon in nonmammals. Ann. Rev. Neurosci. (1981)
Editor note: Many species don't have lobes but they do have frontal cortex. Lobe isn't a really well defined term though [MM]
Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border.
Temporal lobe is the ventrolateral lobe of five lobes comprising each cerebral hemisphere. It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe.
Parietal lobe is the one of five lobes of the cerebral hemisphere which occupies the dorsal-posterior portion of the hemisphere. It is bounded by the central sulcus on its anterior border and and by the longitudinal cerebral fissure on its medial border. Posteriorly it shares an arbitrary border with the occipital lobe.
CHECK - rodents. The caudate nucleus and putamen are separated by a clear white matter bundle in most species but not in rodents (MM)
Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent.
BTO and MA are inconsistent w.r.t striatum and pallidum being non-overlapping as in ABA. Note that we have pallidum as part_of basal gangion, so we can make the direct link to basal ganglion. ISBN10:1588900649 says: ... a derivative of the diencephalon, seperates as a result of growing fibers of theinternal capsule and is finally displaced into telencephalon. only a small medial remnannt remains, the entopeduncular nucleus. The globus pallidus should be regarded as part of the subthalamus
Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle[NIF]. Nucleus of brain which is located medially to the putamen and laterally to the internal capsule[FMA].
AO notes: MA and FMA differ on relationship to basal ganglion. The FMA text def suggests a subdivision, but it is classified as a subtype
One part of the striatum is called the archistriatum. (...) The archistriatum of fishes consists of several indistinctly segregated nuclei called the amygdaloid (...) complex. Tetrapods retain the structure, and in mammals the corresponding amygdala is a globular mass that tends to be ventral to the other basal nuclei.[well established][VHOG]
Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA]
ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.342
A brain structure in the forebrain wrapped around the stria terminalis. It's largest extent can be found around the crossing of the anterior commissure[INCF].
interstitial nucleus of stria terminalis
a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO].
A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces.
A tuft of capillaries that project into the ventricles of the brain and secretes cerebral spinal fluid. The choroid plexus is covered by a cuboidal epithelium which maintains the integrity of the blood-brain barrier.[TAO]
Fringe of the tela choroidea of the brain ventricles[MP]
TODO - check relationship to ventricle. Check subclass - ZFA says vasculature. Note that FMA:61934 (choroid plexus of cerebral hemisphere) has exact synonym 'choroid plexus' but it is not clear that this belongs here, as the fourth ventricle is not in the cerebral hemisphere
In craniate embryos, neural expression of Distal-less-related genes is exclusively in the forebrain (...). Because the major neural expression domain of amphioxus AmphiDll is in the anterior three-fourths of the cerebral vesicle, we suggest that this region of the neural tube is homologous to parts of the craniate forebrain. This conclusion is strongly supported by three-dimensional, computer-assisted reconstruction of the neural tube of amphioxus based on serial transmission electron microscopy. At the neuroanatomical level, a number of detailed homologies are indicated between the anterior three-fourths of the amphioxus cerebral vesicle and the diencephalic region of the craniate forebrain. If one assumes that the amphioxus condition fairly represents the nervous system of the proximate ancestor of the craniates, one can suggest that they evolved from a creature that had the beginnings of a forebrain.[well established][VHOG]
Most anterior of the three regions of the brain consisting of the telencephalon and diencephalon.[AAO]
The most anterior region the brain including both the telencephalon and diencephalon.
The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[TAO]
relationship loss: develops_from forebrain neural tube (TAO:0007041)[TAO]
PMID:8787764 Holland ND, Panganiban G, Henyey EL, Holland LZ, Sequence and developmental expression of AmphiDll, an amphioxus Distal-less gene transcribed in the ectoderm, epidermis and nervous system: insights into evolution of craniate forebrain and neural crest. Development (1996)
Editors note: developmental relationships need revised. AO notes: part of brainstem in ABA - we reject this in favor of ISBN10:0471888893 which has an implicit overlaps relationships
Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG]
Middle part of the brain composed of the optic tectum and penducular region.[AAO]
Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct[FMA]. The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally[ZFA]. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO].
The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.[TAO]
DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999)
A segment of the developing hindbrain. Kimmel et al, 1995.[TAO]
A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP].
Rhombomeric segmentation is found in all living vertebrates and is of fundamental importance to the development of the vertebrate head.[well established][VHOG]
DOI:10.1006/dbio.2002.0831 Mazet F, Shimeld SM, The Evolution of Chordate Neural Segmentation. Developmental Biology (2002)
From an evolutionary standpoint, the telencephalon is the most recent brain structure: the amphioxus does not have this structure as a morphological entity. Overt telencephalon is present in the hagfish and lamprey to receive numerous input fibers from various parts of the CNS, similar to gnathostomes.[well established][VHOG]
In mammals the cortex covers almost the whole of the cerebral hemispheres.
In ray-finned fishes the inner surfaces of the lateral and ventral regions of the cerebrum bulge up into the ventricles.
In the amniotes, the cerebrum becomes increasingly large and complex. In reptiles, the paleopallium is much larger than in amphibians, and its growth has pushed the basal nuclei into the central regions of the cerebrum.
In the most primitive living vertebrates, the hagfishes and lampreys, the cerebrum is a relatively simple structure receiving nerve impulses from the olfactory bulb.
Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA].
Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.[AAO]
The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[TAO]
The cerebrum of birds has evolved along different lines to that of mammals, although they are similarly enlarged, by comparison with reptiles. However, this enlargement is largely due to the basal ganglia, with the other areas remaining relatively primitive in structure.
The telencephalon is the name for a large region within the brain that is attributed many functions. Many people refer to it as the cerebrum; however, it is technically referred to as the telencephalon. As a more technical definition, the telencephalon refers to the cerebral hemispheres and other, smaller structures within the brain, although the telencephalon is one of the larger divisions (in terms of number). It is the anterior-most embryological division of the brain that develops from the prosencephalon. The telencephalon is composed of the following sub-regions; Limbic system; Cerebral cortex or cortices of the cerebral hemispheres, Basal ganglia, Olfactory bulb. The telencephalon comprises what most people think of as the 'brain' It lies on top of the brainstem and is the largest and most well-developed of the five major divisions of the brain. The telencephalon is the newest structure in the phylogenetic sense, with mammals having the largest and most well-developed among all species. It emerges from the prosencephalon, the first of three vesicles that form from the embryonic neural tube (Christine Fennema-Notestine, NIF_GrossAnatomy:birnlex_1115).
dolphins are the only species (other than humans) to have cerebra accounting for as much as 2 percent of their body weight.
relationship loss: develops_from presumptive telencephalon (TAO:0000571)[TAO]
DOI:10.1016/j.ydbio.2005.02.008 Murakami Y, Uchida K, Rijli FM and Kuratani S, Evolution of the brain developmental plan: Insights from agnathans. Developmental Biology (2005)
Note that in ABA, this is part of the brain stem
Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus[FMA]. The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.
The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.[TAO]
Unpaired part of the forebrain comprised of three major parts; the epithalamus, thalamus, and hypothalamus.[AAO]
Classical anatomical studies subdivided the vertebrate rhombencephalon into pons and medulla oblongata. (...) The medulla oblongata appears therefore as a tagma, that is, a group of segmental units (pseudorhombomeres, in this case) sharing some morphological and molecular characteristics, and in some aspects different from the segmental units present in adjoining brain regions, pons and spinal cord.[well established][VHOG]
Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO].
Posterior portion of the hindbrain which controls respiration, heartbeat, digestion, and swallowing as well as some locomotor responses.[AAO]
The posterior region of the brain that is continuous with the spinal cord. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-17, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]
DOI:10.1016/j.ydbio.2008.08.017 Marin F, Aroca P, Puelles L, Hox gene colinear expression in the avian medulla oblongata is correlated with pseudorhombomeric domains. Developmental Biology (2008)
(...) the brain regions of tetrapods, the structures they contain, and their basic organizational features are the same as in fishes.[well established][VHOG]
A midline paired symmetrical structure within the brains of vertebrates, including humans. It is situated between the cerebral cortex and midbrain, both in terms of location and neurological connections. Its function includes relaying sensation, special sense and motor signals to the cerebral cortex, along with the regulation of consciousness, sleep and alertness. The thalamus surrounds the third ventricle. It is the main product of the embryonic diencephalon.
AO notes: MA and ZFA think there is a distinct dorsal thalamus, but FMA says its an exact synonym. FMA has a distinct class for thalamic complex.
One of a pair of large oval nervous structures made of gray matter and forming most of the lateral walls of the third ventricle of the brain and part of the diencephalon. [TFD][VHOG]
Part of the diencephalon consisting of a mass of connecting fibers which relay sensory information to the cerebral cortex.[AAO]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.484
A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.[TAO]
A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia].
For instance, the vertebrate ventral diencephalon generates the hypothalamus which functions as a major endocrine center in cooperation with the hypophysis, the anterior part of the pituitary gland, located just ventral to the hypothalamus. In the amphioxus brain, the presence of a hypothalamus-like structure has been reported associated with the ventrally located Hatschek's pit, the hypothetical hypophysial homologue. It is thus conceivable that a hypothalamus-like structure originally involved in endocrine functions may have already been present before the establishment of vertebrates.[well established][VHOG]
Part of the diencephalon ventral to the thalamus consisting of connecting fibers and is a center for control of the autonomous nervous system.[AAO]
Taxon notes: all vertebrates contain a hypothalamus[WP].
Dorsal segment of the diencephalon containing the habenular ganglia, a choroid plexus, and the pineal organ.[AAO]
The epithalamus has been historically conceived as a distinct neuroanatomical moiety within the diencephalon of all vertebrates. (...) The evolutionary origins of epithalamic structures are uncertain but asymmetry in this region is likely to have existed at the origin of the vertebrate, perhaps even the chordate, lineage.[well established][VHOG]
The epithalamus is the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle[GO]. a dorsal posterior segment of the diencephalon (a segment in the middle of the brain also containing the hypothalamus and the thalamus) which includes the habenula, the stria medullaris and the pineal body. Its function is the connection between the limbic system to other parts of the brain[WP] Some functions of its components include the secretion of melatonin by the pineal gland.
The roof of the diencephalon lying above the thalamus. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-11, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]
DOI:10.1046/j.1469-7580.2001.19910063.x Concha ML and Wilson SW, Asymmetry in the epithalamus of vertebrates. J Anat (2001)
A circumscribed swelling, includes the pineal primordium that appears late in the segmentation period in the dorsal midline of the diencephalon. Kimmel et al, 1995.[TAO]
Anatomical structure which is a medial outgrowth of the thalamus on the dorsal surface of the brain. This structure is light sensitive and secretes melatonin when exposed to prolonged darkness.[AAO]
The pineal body is an unpaired glandular organ subdivision shaped somewhat like a pine cone. It is attached on the midline near the posterior and habenular commissures of the epithalamus.
The pineal gland has evolved from a part of the epiphyseal complex of anamniotes, which includes a median light-receptive pineal eye, parietal eye, or both.[well established][VHOG]
relationship loss: part_of pineal complex (TAO:0001359)[TAO]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.516
The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO].
Any of the milk-producing apocrine glands typically occurring in pairs in female mammals and consisting of lobes containing clusters of alveoli with a system of ducts to convey the milk to an external nipple or teat. [TFD][VHOG]
Note that this class corresponds to the generic mammary gland. The human mammary gland is in the thoracic/breast region and is therefore covered by the subclass "thoracic mammary gland" // Males typically only have rudimentary mammary glands, The male Dayak fruit bat has lactating mammary glands. Male lactation occurs infrequently in some species. We make a part_of association to female organism for now as this is the canonical case // AO notes: in MP, this is implicitly part of female reproductive system, but not female genitalia // A mouse mammary gland contains a single duct or sinus, forming 5-10 secondary ducts
The detailed similarities of mammary glands in living monotremes, marsupials, and eutherians argue for a monophyletic origin of these glands, perhaps by the combination of parts of preexisting sebaceous and sweat glands.[well established][VHOG]
The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland[BTO]. The mouse forms five to six pairs of mammary glands that extend from the neck to the groin.
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.224
Note that BTO has distinct classes for body and nucleus, but other sources treat as identical
The lateral geniculate nucleus is the primary processor of visual information received from the retina[GO].
The Medial Geniculate Nucleus (MGN) or Medial Geniculate Body (MGB) is part of the auditory thalamus and represents the thalamic relay between the inferior colliculus (IC) and the auditory cortex (AC). It is made up of a number of sub-nuclei that are distinguished by their neuronal morphology and density, by their afferent and efferent connections, and by the coding properties of their neurons. It is thought that the MGB influences the direction and maintenance of attention. [WP,unvetted].
Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus. See Figure 7, Atlas of Early Zebrafish Brain Development.[TAO]
Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus[ZFA].
The supraoptic nucleus (SON) is a nucleus of magnocellular neurosecretory cells in the hypothalamus of the mammalian brain. The nucleus is situated at the base of the brain, adjacent to the optic chiasm. In humans, it contains about 3,000 neurons. [WP,unvetted].
Part of the midbrain tectum consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of superior colliculus [Wikipedia.org and Neuronames (MM)].
The brain structure where the two separate inputs from the two eyes are combined into a single, integrated map.[AAO]
The roof of the midbrain, morphologically visible by the end of the segmentation period. Kimmel et al, 1995.[TAO]
The term SC is used when discussing mammals, and OT for other vertebrates[WP]. The tectum is a layered structure, with a number of layers that vary by species. The superficial layers are sensory-related, and receive input from the eyes as well as other sensory systems.[1] The optic tectum is one of the fundamental components of the vertebrate brain, existing across the full range of species from hagfish to human.[4] (See the brain article for background.) Some aspects of the structure are very consistent, including a structure composed of a number of layers, with a dense input from the optic nerve to the superficial layers and another strong input conveying somatosensory input to deeper layers. Other aspects are highly variable, such as the total number of layers (from 3 in the African lungfish to 15 in the goldfish[5]), and the number of different types of cells (from 2 in the lungfish to 27 in the house sparrow[5]). In hagfish, lamprey, and shark it is a relatively small structure, but in teleost fish it is greatly expanded, in some cases becoming the largest structure in the brain. (See the adjoining drawing of a codfish brain.) In amphibians, reptiles, and especially birds it is also a very significant component, but in mammals it is dwarfed by the massive expansion of the cerebral cortex.
The inferior colliculi together with the superior colliculi form the eminences of the corpora quadrigemina, and also part of the tectal region of the midbrain. The inferior colliculus lies caudal to its counterpart - the superior colliculus - above the trochlear nerve, and at the base of the projection of the medial geniculate nucleus (MGN) and the lateral geniculate nucleus (LGN). The inferior colliculus is the principal midbrain nucleus of the auditory pathway and receives input from several more peripheral brainstem nuclei in the auditory pathway, as well as inputs from the auditory cortex. The inferior colliculus has three subnuclei. [WP,unvetted].
Body substance in liquid state contained in the lumen of arterial and venous trees, blood capillary and the cardiac chambers; constitutes the liquid phase of blood.[FMA]
A vessel through which blood circulates in the body.
Any of the vessels through which blood circulates in the body. [XAO:0001011_][VHOG]
Any of the vessels through which blood circulates in the body.[AAO]
note that FMA:63183 Blood vessel is categorized as 'general anatomical term'. Suggestion to map to region of vascular tree from Terry H at JAX. Taxon notes: annelids have blood vessels, but this class is not applicable to annelids.
Any of the smallest blood vessels connecting arterioles with venules.
Any of the tiny blood vessels connecting the arterioles to the venules.[AAO]
Structure notes: capillaries lack tunica media and tunica adventitia; only the endothelial wall of the tunica intima belongs
A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]
The term 'endothelium' has been either restricted to the continuous cell layer of the vertebrates, as we are assuming here, or applied to all the cells able to adhere to the luminal surface of the vascular basement membrane (Casley-Smith 1980)
Phylogenetic analyses of the concatenated data set using maximum parsimony, maximum likelihood and distance based (neighbour joining) methods all converged on a nearly identical, well supported topology defining four principal eutherian lineages. The results affirm monophyly of traditional placental orders (except Artiodactyla and Insectivora), and also support some previously proposed, as well as new, superordinal clades.[well established][VHOG]
Taxon notes: Eutherians: In eutherians, the chorioallantoic membrane of the fetus establishes intimate contact with the adjacent vascular wall of the mother's uterus to produce the placenta, a composite structure formed in part from tissues of the fetus and in part from tissues of the mother [ISBN10:0073040584 "Vertebrates, Kardong"]. TODO - is taxon restriction too strict, even if we restrict def to allantoic placenta? - WP says: also found in some snakes and lizards with varying levels of development up to mammalian levels. Pough et al. 1992. Herpetology: Third Edition. Pearson Prentice Hall:Pearson Education, Inc., 2002. // See also: doi:10.1002/jmor.11011 // Marsupials possess only a rudimentary placenta, with reduced nutrient and oxygen exchanging capabilities.
organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell.
DOI:10.1038/35054550 Murphy WJ, Eizirik E, Johnson WE, Zhang YP, Ryder OA, O'Brien SJ, Molecular phylogenetics and the origins of placental mammals. Nature (2001)
Trunk ganglion which is bilaterally paired and located at the anterior end of the sympathetic ganglion chain.
Epithelium inside the nasal cavity that is responsible for detecting odors[WP].
Genes: V1Rs, Trpc2 present in lamprey // See also: FMA:77199
Sensory lining of the medial wall, roof and anterior aspects of the main olfactory cavity (cavum principale).[AAO]
relationship loss: part_of principal cavity (AAO:0000992)[AAO]
The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO].
Major artery which supplies blood to the lungs.[AAO]
On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG]
One of two arteries, leaving from the heart, the left one supplying the left lung and the right one supplying the right lung. [TFD][VHOG]
The pulmonary arteries carry blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood. In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung. [WP,unvetted].
Occipital lobe is the one of five lobes of the cerebral hemisphere which occupies the posterior-most portion of the hemisphere. Anteriorly, it shares an arbitrary border with the parietal lobe and temporal lobe. Medially, it is bounded by the longitudinal cerebral fissure.
Posterior part of the brain consisting of the cerebellum and medulla oblongata.[AAO]
The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.[TAO]
The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA].
in MA, brainstem and hindbrain and part-of siblings under brain, consistent with FMA and NIF. See also notes for cerebellum. We weaken the relation in ABA to overlaps
relationship loss: develops_from hindbrain neural tube (TAO:0007043)[TAO]
The suprachiasmatic nucleus, or nuclei, (SCN), a tiny region on the brain's midline in a shallow impression of the optic chiasm, is responsible for controlling endogenous circadian rhythms. The neuronal and hormonal activities it generates regulate many different body functions over a 24-hour period. The SCN, pine cone shaped and the size of a grain of rice, interacts with many other regions of the brain. It contains several cell types and several different peptides and neurotransmitters. [WP,unvetted].
Dorsal part of the hindbrain that coordinates muscle movement, posture, and balance.[AAO]
However, although the lamprey possesses a region comparable to the cerebellum and display expression of LjFgf8/17 at the MHB (midbrain hindbrain boundary), it does not have Purkinje cells and cerebellar nuclei, as well as components of the rhombic lip-derived cerebellar and pre-cerebellar systems. It is noteworthy that the latter structures require specific expression of Pax6 in the rhombic lip of the gnathostome hindbrain. Interestingly, the lamprey rhombic lip does not express Pax6. Thus, it is tempting to speculate that in vertebrate evolution the rostral hindbrain is incapable of differentiating into the cerebellum before the co-option of Pax6 in that region. In other words, cerebellum has been brought about as an evolutionary innovation in gnathostomes, based on exaptation of MHB, rhombic lip, and some regulatory gene expression already present in the vertebrate common ancestor.[well established][VHOG]
Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA].
Specialized brain region derived from the dorsal metencephalon (anterior hindbrain, and perhaps including posterior midbrain) and becoming distinctive late in the segmentation period. Kimmel et al, 1995.[TAO]
note that almost all AOs agree that the cerebellum is part of the hindbrain (sometimes specifically part of the metencephalon, which, when present, is part of the hindbrain). However, ABA has cerebellum and brain stem as partof siblings, with the hindbrain part of the brainstem
(...) the substantia nigra first appears in reptiles and is best developed in primates.[well established][VHOG]
Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA].
TODO: In BTO and NIF, part of basal ganglion which is part of telencephalon - but this is inconsistent with being part of midbrain, if these are spatially disjoint, as in ABA
ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.336
A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted].
TODO check dorsal vs inferior. ZF has no pons.
(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (2) a groove in the pharyngeal floor known as the endostyle, or a thyroid gland derived from part of the endostyle (...).[well established][VHOG]
A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO].
Either of paired structures located in the throat which develop from the ventral wall of the pharynx and excretes hormones involved in the morphological and functional changes during metamorphosis as well as influencing other tissues.[AAO]
In fish, it is usually located below the gills and is not always divided into distinct lobes. However, in some teleosts, patches of thyroid tissue are found elsewhere in the body, associated with the kidneys, spleen, heart, or eyes
In larval lampreys, the thyroid originates as an exocrine gland, secreting its hormones into the gut, and associated with the larva's filter-feeding apparatus. In the adult lamprey, the gland separates from the gut, and becomes endocrine, but this path of development may reflect the evolutionary origin of the thyroid. For instance, the closest living relatives of vertebrates, the tunicates and Amphioxus, have a structure very similar to that of larval lampreys, and this also secretes iodine-containing compounds (albeit not thyroxine)
In tetrapods, the thyroid is always found somewhere in the neck region. In most tetrapod species, there are two paired thyroid glands - that is, the right and left lobes are not joined together. However, there is only ever a single thyroid gland in most mammals, and the shape found in humans is common to many other species
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28
Either of two organs which allow gas exchange absorbing oxygen from inhaled air and releasing carbon dioxide with exhaled air.[AAO]
Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata. (...) In actinopterygian fishes, apart from Cladistia, the ventral intestinal pocket migrates dorsally and becomes the swim-bladder, a mainly hydrostatical organ (reference 1); Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung (reference 2).[well established][VHOG]
Respiration organ present in all air-breathing animals whose principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere[WP]. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax[GO].
respiration organ in all air-breathing animals, including most tetrapods, a few fish and a few snails. In mammals and the more complex life forms, the two lungs are located in the chest on either side of the heart. Their principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere. This exchange of gases is accomplished in the mosaic of specialized cells that form millions of tiny, exceptionally thin-walled air sacs called alveoli. // Avian lungs do not have alveoli as mammalian lungs do, they have Faveolar lungs. They contain millions of tiny passages known as para-bronchi, connected at both ends by the dorsobronchi // Snakes and limbless lizards typically possess only the right lung as a major respiratory organ; the left lung is greatly reduced, or even absent. Amphisbaenians, however, have the opposite arrangement, with a major left lung, and a reduced or absent right lung [WP]
ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.210, DOI:10.1371/journal.pone.0024019 Zheng W, Wang Z, Collins JE, Andrews RM, Stemple D, Gong Z, Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung. PLoS One (2011)
Anatomical structure that is part of an embryo.
Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[AAO]
Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[TAO]
Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[VSAO]
Note in FMA embryo is_a embryonic structure
Little is known about the development of parasympathetic neurons apart from the ciliary ganglion in chicks. Although there are considerable gaps in our knowledge, some of the mechanisms controlling sympathetic and enteric neuron development appear to be conserved between mammals, avians and zebrafish.[uncertain][VHOG]
The ciliary ganglion is a parasympathetic ganglion located in the posterior orbit. It measures 1–2 millimeters in diameter and contains approximately 2,500 neurons. Preganglionic axons from the Edinger-Westphal nucleus form synapses with these cells. The postganglionic axons run in the short ciliary nerves and innervate two eye muscles: the sphincter pupillae constricts the pupil, known as Miosis. The opposite, Mydriasis, is the dilation of the pupil. the ciliaris muscle contracts, releasing tension on the Zonular Fibers, making the lens more convex, also known as accommodation. Both of these muscles are involuntary – they are controlled by the autonomic nervous system. It is one of four parasympathetic ganglia of the head and neck.. [WP,unvetted].
DOI:10.1016/j.autneu.2010.03.002 Young HM, Cane KN, Anderson CR, Development of the autonomic nervous system: A comparative view. Autonomic Neuroscience : basic and clinical (2010)
Extraembryonic part of the vein passing through the umbilical cord to the fetus and returning the purified and nutrient blood from the placenta. [Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, adapted_from_Dorian_AF][VHOG]
The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted].
A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales. Le Guellec et al, 2004.[TAO]
Editor notes: Consider adding a layer-of-skin grouping class for all skin layers
The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP].
When approaching controversies surrounding skin evolution, we need to remember that the skin consists of two layers, an epidermis and a dermis, not a single evolving structure. (...) It is little wonder that controversies about homology exist. If we think of the epidermis, the dermis, and their interactions as an evolving unit, then their specialized products (hair, feathers, and reptilian scales) are broadly homologous.[well established][VHOG]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.231-232 see also p.209 and p.228 and Figure 6-1
The earliest reliable record of hair is found in a fossil of the Paleocene period, in which the structure of hair cuticles is preserved. Its appearance suggests that the complicated structure of the hair follicle, closely similar to that of present-day mammals, had already appeared at this time.[well established][VHOG]
a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO].
ISBN:978-4431998051 Morioka K, Hair follicle: differentiation under the electron microscope, An atlas (2005) p.3
Cardiac chamber which consists of a wall that surrounds the cavity of an atrium.[FMA]
In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...).[well established][VHOG]
One of two chambers of the heart which receive blood from the veins and forces it by muscular contration to the ventricle.[AAO]
ISBN:978-0721676678 Romer AS, Vertebrate body (1970) p.428
A chamber of the heart that receives blood from one or more atria and pumps it by muscular contraction into the arteries.[AAO]
Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle.
In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...)[well established][VHOG]
Skeletal subdivision of the central body axis including vertebrae, notochord, ribs, and sternum.[VSAO]
The axial musculoskeletal system represents the plesiomorphic locomotor engine of the vertebrate body, playing a central role in locomotion. In craniates, the evolution of the postcranial skeleton is characterized by two major transformations. First, the axial skeleton became increasingly functionally and morphologically regionalized. Second, the axial-based locomotion plesiomorphic for craniates became progressively appendage-based with the evolution of extremities in tetrapods.[well established][VHOG]
The axial skeleton is formed by the vertebral column, a metameric, semi-flexible, arched bar located in the dorsal part of the trunk, and is formed by a series of cartilaginous or bony vertebrae. It provides suspension for the appendicular skeleton and protection for the spinal nerve cord.[AAO]
The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[TAO]
The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA].
previous some AOs had used the term 'axial skeleton' to include the skull. This is being resolved (see tracker items above). Status: MA - fixed.
DOI:10.1186/1742-9994-8-4 Schilling N, Evolution of the axial system in craniates: morphology and function of the perivertebral musculature. Frontiers in Zoology (2011)
Note that ontologies differ in whether they treat the term appendicular skeleton as being the entire set of bones in the limbs, or whether the fore and hind limbs/fins are treated as seperate appendicular skeletons. Here we follow FMA, and treat the appendicular skeleton as the sum total of skeletal elements in the organism (this is evidenced by the fact that in FMA, skeleton of left/right upper/lower limb is part_of a appendicular skeleton, and subtypes of 'subdivision of appendicular skeleton'). We have separate classes such as 'skeleton of limb', and 'skeleton of hindlimb' for the 4 parts of the appendicular skeleton. In future the ZFA/TAO classes may be moved.
Skeletal subdivision consisting of all the skeletal elements in the pectoral and pelvic appendage complexes.[VSAO]
Skeletal system that consists of the paired fins (pectoral or pelvic fins).[TAO]
Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm].
The pectoral and pelvic girdles, which articulate with the axial skeleton, together with their associated limbs, the forelimbs and hind limbs, form the appendicular skeleton.[AAO]
Cardiac septum which separates the right ventricle from the left ventricle.[FMA]
The partition separating the right and left ventricles of the heart. [TFD][VHOG]
The two most progressive vertebrate classes, the birds and mammals, have completed the ventricular septum and at long last have completely separated the two blood streams along the length of the major heart chambers. This development has obviously been brought about independently in the two cases, since mammals and birds have evolved independently from primitive reptiles.[well established][VHOG]
ISBN:978-0721676678 Romer AS, Vertebrate body (1970) p.430
Nonparenchymatous organ that consists of the dermis and epidermis. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin[FMA]. Surface structure that consists of the external membranous integument of the animal.
Note that FMA uses 'skin' for the entire organ. XAO seems consistent. MA seems to use it analagously to zone of skin
Organism subdivision that is the part of the body posterior to the head and anterior to the tail.[AAO]
Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present.
Organism subdivision which is the part of the body posterior to the head and anterior to the tail.[TAO]
A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts.
Organism subdivision that has as its parts the jointed appendages used for locomotion and manipulation.[AAO]
A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts.
AO notes: note that this corresponds to FMA:'free upper limb' (a limb segment), NOT FMA:'upper limb'. Both MA and FMA consider shoulder (and shoulder bones) part of upper limb. Usage notes: Note distinction between arm and forelimb. hand is part of forelimb, but not part of arm
Upper limb, which connects the manus with the pectoral girdle.[AAO]
A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts.
AO notes: note that this corresponds to FMA:'free lower limb' (a limb segment), NOT 'lower limb'. Both MA and FMA consider shoulder (and shoulder bones) part of upper limb. Note that AAO class probably refers to skeleton
Lower limb, which connects the pes with the pelvic girdle.[AAO]
An organ involved in red blood cell filtration and immune response.[AAO]
Organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve in case of hemorrhagic shock, especially in animals like horses (not in humans), while recycling iron. It synthesizes antibodies in its white pulp and removes, from blood and lymph node circulation, antibody-coated bacteria along with antibody-coated blood cells.
Taxon notes: Neither hagfish nor lampreys possess what might be considered a discrete and condensed spleen. Hagfish possess dispersed lymphoid tissue within the submucosa of the intestine (96) associated with the portal vein (97), whereas lymphoid tissue is associated with the typhlosole portion of the intestine in lampreys (96) [PMID:20959416]
With the advent of clonal selection, the accumulation and segregation of T and B cells in specialized organs for antigen presentation became necessary, and indeed the spleen is found in all jawed vertebrates, but not in agnathans or invertebrates.[well established][VHOG]
ISBN:978-0781765190 Paul WE, Fundamental Immunology (2008) p.94
AO notes: Only ZFA considers this part_of immune system - we weaken this to an overlaps relation, as in general it's only a subset of cells that have clear immune function. Taxon notes: WP: The liver is found in all vertebrates, and is typically the largest visceral organ. Its form varies considerably in different species, and is largely determined by the shape and arrangement of the surrounding organs. Nonetheless, in most species it is divided into right and left lobes; exceptions to this general rule include snakes, where the shape of the body necessitates a simple cigar-like form. The internal structure of the liver is broadly similar in all vertebrates.[7] An organ sometimes referred to as a liver is found associated with the digestive tract of the primitive chordate Amphioxus. However, this is an enzyme secreting gland, not a metabolic organ, and it is unclear how truly homologous it is to the vertebrate liver. // The zebrafish liver differs from the mammalian liver in that the hepatocytes are not clearly organized in cords or lobules and the typical portal triads are not apparent. In addition, the zebrafish liver does not have Kuppfer cells. Furthermore, a clear distinction can be made between the male and female liver in the adult zebrafish. The female hepatocytes are very basophilic (Figure 15c) as a result of the production of vitellogenin (Van der Ven et al. 2003).
All vertebrates possess a liver (reference 1); Later in craniate evolution, an anterior gill arch was transformed into jaws, and many new types of feeding subsequently evolved.(...) A liver evolved that, among its many functions, stores considerable energy as glycogen or lipid (reference 2).[well established][VHOG]
An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO].
Organ which secretes bile and participates in formation of certain blood proteins.[AAO]
relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.526, ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43
Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong].
The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity. Wallace et al, 2005.[TAO]
Membranous muscular sac in which the bile from the liver remains stored until it is required. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
Organ attached to the liver which stores bile and empties into the duodenum via the bile duct as needed for digestion.[AAO]
Rats do not have a gallbladder, but produce bile. The bile flows directly from the liver through the (hepatic) bile duct into the small intestine (Hebel and Stromberg, 1988)
The presence of a gallbladder appears to be a primitive trait. It is found in most fish and all adult reptiles and amphibians and has been well conserved in mammals, for the most part.[well established][VHOG]
a small organ that aids digestion and stores bile produced by the liver[WP]. Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder[FMA].
DOI:10.1002/(SICI)1097-0029(19970915)38:6<571::AID-JEMT3>3.0.CO;2-I Oldham-Ott CK, Gilloteaux J, Comparative morphology of the gallbladder and biliary tract in vertebrates: Variation in structure, homology in function and gallstones. Microscopy research and technique (1997)
A paired organ which has the production of urine as its primary function.
One of either of a pair of structures lying on either side of the dorsal aorta in which fluid balance is regulated and waste is excreted out in the form of urine.[AAO]
In fish, the divisions of the small intestine are not as clear, and the terms anterior intestine or proximal intestine may be used instead of duodenum.
In humans, the duodenum is a hollow jointed tube about 10–15 inches (25–38 centimetres) long connecting the stomach to the jejunum. It begins with the duodenal bulb and ends at the ligament of Treitz.
The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one).
The fixed portion of the small intestine deeply lodged in the posterior wall of the abdomen and extending from the pylorus to the beginning of the jejunum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
TODO consider ZFA:0001323 mid intestine, see also small intestine
The first two fifth of the small intestine beyond the duodenum. It extends from the end of the duodenum to the ileum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
The jejunum is the middle section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms middle intestine or mid-gut may be used instead of jejunum. [WP,unvetted].
TODO consider ZFA:0000706 posterior intestine, see also colon
The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum. [WP,unvetted].
A kidney formed of nephric tubules arising in the anterior region of the nephric ridge; forms only as a transient embryonic structure. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.748][VHOG]
In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG]
In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO].
Once the more complex mesonephros forms the pronephros undergoes apoptosis in amphibians. In fishes the nephron degenerates but the organ remains and becomes a component of the immune system[Wikipedia:Pronephros]. // TODO - check developmental relationships. Note that we previously include the ZFA/XAO terms under the more specific 'pronephric kidney', but these are now merged. TODO GCI: relationship: capable_of GO:0030104
Organ that serves as a transient kidney, providing osmoregulation during early developmental stages and then degenerating during metamorphosis.[AAO]
The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.[TAO]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.637
Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size.
A valve of the heart, composed of two triangular flaps, that is located between the left atrium and left ventricle and regulates blood flow between these chambers. [TFD][VHOG]
AO notes: FMA part_ofs changed to connects
Atrioventricular valve which has as its parts the anterior and posterior leaflets, attached to the fibrous ring of mitral valve.[FMA]
The mature AV (atrioventricular) valve of the adult zebrafish 2-chambered heart is structurally similar to the mammalian AV valves with stratified ECM (extracellular matrix) and supporting chordae tendineae. Therefore, the major cellular and molecular events of valve development are largely conserved among animals with hearts composed of multiple chambers.[well established][VHOG]
DOI:10.1161/CIRCRESAHA.109.201566 Combs MD, Yutzey KE, Heart valve development. Circulatory Research (2009)
Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]
Human variation: It is normally tricuspid (with three leaflets), although in 1% of the population it is found to be congenitally bicuspid (two leaflets)
The valve between the left ventricle of the heart and the ascending aorta, consisting of three semilunar cusps. [TFD][VHOG]
TODO - check ZFA/pons. also GO says part of dorsorostral pons
The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID].
Layer that lines the lumen of the heart.[TAO]
Part of the heart comprised of thin serous membrane, composed of endothelial tissue, that lines the interior of the heart.[AAO]
The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber[FMA].
fixed in GO to reflect FMA. See email to David/Varsha June 18 2010
In humans, histologically identical to trachea.
A portion of the airway that connects to the lungs[GO].
Each of the two primary divisions of the trachea leading respectively into the right and the left lung. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
In humans, the main bronchus is histologically identical to trachea; 2ary and 3ary bronchi are not; epithelium becomes simple columnar, goblet cell number decreases, elastic fibers in lamina propria increases, distribution more uniform. Muscular layer between mucosa and submucosa appears. cartilage rings become discontinuous plates connected by fibrous connective tissue
It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG]
Region of the pituitary gland derived from the buccal protrusion consisting of three regions.[AAO]
The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mamalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish. Herzog et al, 2004.[TAO]
The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish[ZFA].
note that BTO may contain an error here. Also note we may need to introduce taxon-specific developmental relationships: "While in most basal fish and tetrapods the adenohypophyseal anlagen invaginates to form Rathke’s pouch, in teleost fish the adenohypophyseal placode does not invaginate but rather maintains its initial organization forming a solid structure in the head"[NBK53175]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.510 and Figure 15-5
Elongated, approximately cylindrical part of the central nervous system that lies in the vertebral canal and from which the spinal nerves emerge.
Part of the central nervous system which descends from the hindbrain within the vertebral column.[AAO]
(...) the vomeronasal organ is known only in some tetrapods. It is absent in most turtles, crocodiles, birds, some bats, and aquatic mammals. In amphibians, it is in a recessed area off the main nasal cavity. (...) In mammals possesing this organ, it is an isolated area of olfactory membrane within the nasal cavity that is usually connected to the mouth via the nasopalatine duct (reference 1); The opinions concerning the presence and functioning of the vomeronasal organ in humans are controversial. The vomeronasal cavities appear early in human foetuses. (...) Historical examination of the nasal septum revealed the presence of vomeronasal cavities in approximately 70% of adults. In contrast to the situation in other mammals, the organ is not supported by a rigid tube of bone or cartilage (reference 2); (...) the best evidence for the homology of the human VNO to that of other primates (and of mammals in general) is ontogenetic in nature, based on a common embryonic origin from a thickening (vomeronasal primordium) on the medial aspect of each olfactory pit (reference 3); (...) suggesting that lungfish possess a region homologous to the accessory olfactory bulb of tetrapods. Based on these results, it seems appropriate to refer to the recess epithelium as a primordium of the vomeronasal organ (reference 4). [debated][VHOG]
An organ thought to supplement the olfactory system in receiving pheromonic communication. The sensory part of the organ is in two long, thin sacs, situated on either side of the nasal septum at its base. [TFD][VHOG]
Taxon notes: Generally formed only in tetrapods; lungfish have rudimentary VN organs; true VN organs are not normally found in recent fishes, birds, aquatic reptiles, aquatic mammals (Bertmar 1980). Humans: Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans was controversial, though most studies agree the organ regresses during fetal development. Many genes essential for VNO function in animals (such as TRPC2) are non-functional in humans (Liman ER. Use it or lose it: molecular evolution of sensory signaling in primates. Pflugers Arch. 2006;453(2):125-31.)
The vomeronasal organ (VNO), or Jacobson's organ, is an auxiliary olfactory sense organ that is found in many animals. It was discovered by Ludwig Jacobson in 1813. During embryological development, it forms from the nasal (olfactory) placode, at the anterior edge of the neural plate. It is a chemoreceptor organ which is completely separated from the nasal cavity the majority of the time, being enclosed in a separate bony or cartilaginous capsule which opens into the base of the nasal cavity. It is a tubular crescent shape and split into two pairs, separated by the nasal septum. It is the first processing stage of the accessory olfactory system, after which chemical stimuli go to the accessory olfactory bulb, then to targets in the amygdala and hypothalamus. The vomeronasal organ is mainly used to detect pheromones, chemical messengers that carry information between individuals of the same species, hence is sometimes referred to as the 'sixth sense. ' The VNO has two separate types of neuronal receptors, V1R and V2R, which are seven-transmembrane receptors that are coupled to G proteins. The receptors are distinct from each other and form the large family of receptors in the main olfactory system. Evidence shows that the VNO responds to nonvolatile cues which stimulate the receptor neurons. Information is then transferred to the accessory olfactory bulb as well as other centres of the brain such as the anterior part of the hypothalamus. Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans is widely controversial, though most studies agree the organ regresses during fetal development. [WP,unvetted].
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.669 (ref.1), PMID:9866877 Doving KB, Trotier D, Review: Structure and function of the vomeronasal organ. The Journal of Experimental Biology (1998) (ref.2), DOI:10.1046/j.1469-7580.2001.19810077.x Smith TD, Siegel MI, Bonar CJ, Bhatnagar KP, Mooney MP, Burrows AM, Smith MA, Maico LM, The existence of the vomeronasal organ in postnatal chimpanzees and evidence for its homology with that of humans. J Anat (2001) (ref.3) , DOI:10.1002/ar.22415 Nakamuta S, Nakamuta N, Taniguchi K, Taniguchi K, Histological and ultrastructural characteristics of the primordial vomeronasal organ in lungfish. Anat Rec (Hoboken) (2012) (ref.4)
'brainstem' is a loose term that sometimes refers to the ventral parts o the brain except for any part of the telencephalon - sometimes it includes the diencephalon or subpallial telencephalon structures (ISBN10:0471888893). Here we use it in a more restriced sense, to include only the medulla oblongata, pons (when present) and the midbrain tegmentum (following the ZFA definitions).
Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain.[TAO]
Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted].
Dorsal part of the midbrain, consisting of the superior and inferior colliculi and the pretectal nuclei [MM, NIF]. The tectum is a region of the brain, specifically the dorsal part of the mesencephalon (midbrain). This is contrasted with the tegmentum, which refers to the region ventral to the ventricular system. It is derived in embryonic development from the alar plate of the neural tube. [WP,unvetted].
In adult humans it is present only in the mesencephalon as the inferior and the superior colliculi[WP].
The tectum - a multisensory, topologically mapped structure in the roof of the midbrain presents a remarkable degree of conservation in all vertebrate radiations; although it varies in the extent of its development in different vertebrate classes, there is considerable evidence now to deem its layered structure, its cell types, and its hodological pattern as homologous in all vertebrates.[well established][VHOG]
DOI:10.1371/journal.pone.0003582 Maximino C, Evolutionary Changes in the Complexity of the Tectum of Nontetrapods: A Cladistic Approach. PLoS ONE (2008)
The connecting cord from the developing embryo or fetus to the placenta. During prenatal development, the umbilical cord comes from the same zygote as the fetus and (in humans) normally contains two arteries (the umbilical arteries) and one vein (the umbilical vein), buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta. Conversely, the umbilical arteries return the deoxygenated, nutrient-depleted blood[WP].
An arterial trunk with origin from the right ventricle of the heart, and dividing into the right and left pulmonary arteries, which enter the corresponding lungs and branch with the bronchi. [TFD][VHOG]
As in birds, the conus arteriosus split during embryonic development in mammals to produce the pulmonary trunk and single aortic trunk of the adult.[well established][VHOG]
Pulmonary arterial trunk which is continuous with the right ventricle.[FMA]
In addition to the anterior commissure, placental mammals have a phylogenetically new forebrain commissure, the corpus callosum, which primarily interconnects the neocortex of the cerebral hemispheres.[well established][VHOG]
The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres[GO].
The corpus callosum is found only in placental mammals. other groups do have other brain structures that allow for communication between the two hemispheres, such as the anterior commissure, which serves as the primary mode of interhemispheric communication in marsupials.
The largest commissure of the brain connecting the cerebral hemispheres. [TFD][VHOG]
DOI:10.1111/j.1749-6632.1969.tb20447.x Ebner FF, A comparison of primitive forebrain organization in metatherian and eutherian mammals. Annals of the New York Academy of Sciences (1969)
the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest.
Robust muscular tunic of the heart which forms the basic part of its walls. Its external surface is covered by the pericardium and its internal one by the endocardium. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
TODO - check 'Myocardum proper' in FMA. We superclass the more generic class for now. FMA has is_a muscle layer - should we add this? ZFA and BTO both have is_a 'cardiac muscle' (tissue?). But in U we also follow FMA and have cardiac muscle tissue of myocardium (there is also Fibrocollagenous connective tissue of myocardium), which would be identical (see issue-10). Note that GO also treats left/right ventricular cardiac muscle tissue synonymous with ventricular myocardium
The middle layer of the heart, consisting of cardiac muscle.[AAO]
middle muscular layer of the heart wall[M-W]. Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart[FMA].
Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle.[FMA]
Three major adaptations, or 'novel cardiac components', that were not present in the ancestor chordate heart tube can be distinguished in the lower vertebrate heart: the atrium, ventricle, and possibly the muscular sinus venosus. Furthermore, within the ventricular component a compact outer myocardial component and an interiorly localized extensive trabecular component can be distinguished. The specific activation of the ventricle adds to its complexity as follows. The depolarizing impulse travels rapidly from the atrioventricular node toward the apex and then toward the conal region, achieving activation from apex to base.[uncertain][VHOG]
DOI:10.1152/physrev.00006.2003 Moorman AFM, Christoffels VM, Cardiac Chamber Formation: Development, Genes, and Evolution. Physiological Reviews (2003)
Note that MA and FMA differ in what they consider to be parts of the pelvis. MA includes ureter, urethra, urinary bladder, reproductive organs
Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen[FMA].
AO Note: FMA has class anal part of perineum, which may be the same as what EHDAA2 calls perineum
Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA].
Editor note: consider separate term for meninges aka collection of meninges. Note in EHDAA2 pia mater etc are part of the meninges. Also consider a new class for primary/primitive meninx. AO notes: Not consider part of the CNS/neuraxis in FMA. Taxon notes: Whereas cyclostomes and fishes only have a single envelope called the primitive meninx, amphibians have two layers, consisting of an outer dura mater which is extremely dense and protective, and a pia-arachnoid or secondary meninx which is more delicate and vascular. Mammals have three meninges: pia mater (which follows all the convolutions of the brain and is the most interior), the arachnoid layer (which is delicate and sends strands to the pia mater), and the dura mater (the outer, more protective meninx).
In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG]
Membrane covering the brain and spinal cord. It is represented by a single layer in fishes, two in amphibians, reptiles and birds and three in mammals (named dura mater, arachnoid and pia mater). [TFD][VHOG]
Membrane organ that surrounds the brain and the spinal cord.
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.639
TODO - FMA treats the gland as part of the prostate - see also FMA:74119.
The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.
A thymus develops in all vertebrates from the endodermal epithelium of certain pharyngeal pouches and from the adjacent ectodermal epithelium. In fishes, all the pouches, or the first four, contribute to thymus formation, but in tetrapods, the number is more restricted. In mammals, only the third and fourth are involved, and the contribution of the third is by far the greater.[well established][VHOG]
Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop.
Anatomical structure which originates as several paired thickenings on the dorsal side of the pharyngeal pouches and secretes thymosin.[AAO]
check - a subtype of gland? not in GO. NCIT has thymus and thymus gland. EHDAA2 has ductless gland.
ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) p.558
TODO - create superclass for bone marrow / head kidney. both are portions of tissue in the hematopoetic system. also consider adding as subclass of zone of bone organ for consistency with FMA. See also: Leydig and epigonal organs
The bone marrow is the hematopoietic organ in all vertebrates but fishes, in which hematopoiesis occurs in the kidney.[well established][VHOG]
flexible tissue found in the hollow interior of bones. In adults, marrow in large bones produces new blood cells[WP].
Portion of lymphoid tissue on either side of the throat.
Usage notes: the term 'tonsil' can be ambiguous, sometimes refering specifically to the palatine tonsil, sometimes generically to include the cecal tonsils of avians. This class represents lymphoid tissue that is part of the tonsillar ring, in the mouth/throat region
Development notes: tonsillar fossa develops from dorsal portion of pouch 2. Note that pharyngeal and lingual tonsils do not develop from pharyngeal pouches[ISBN10:1607950324]
tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP].
A bone that is part of the metacarpal skeleton.
Any muscle that is part of a head[Automatically generated definition].
Transudate contained in the lumen of lymphatic vessel[FMA]. Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system[WP].
Peritoneum that surrounds the heart.[AAO]
The outer membrane/wall of the developing heart, surrounding the myocardium.
We follow FMA in dividing pericardial sac in pericardium and pericardial cavity
Editor notes: Consider changing name to make distinction from inferred superclass 'vertebral element' clear // note we follow FMA in making this an irregular bone - however vertebra have 'epiphyses' which are currently classified as belonging to long bones
Endochondral bone that forms around the notochord and is part of the vertebral column.[TAO]
In contrast to lampreys and jawed vertebrates, hagfishes were thought to lack vertebrae. Now, long overlooked vertebral rudiments have been analysed in hagfish, suggesting that vertebrae existed in the last common ancestor of all vertebrates.[well established][VHOG]
Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum[FMA]. All serially repeated ossified, cartilaginous, and ligamentous elements around the notochord (Schultze and Arratia, 1988)[ZFA].
Main component of the vertebral column. It consists of two essential parts, a dorsal neural arch and a ventral centrum.[AAO]
DOI:10.1016/j.cub.2011.07.014 Janvier P, Comparative anatomy: all vertebrates do have vertebrae. Current Biology (2011)
Editor notes: Note we also have a subclass post-anal tail, for the chordate specific structure. currently defined very generally, inclusive of caudal fin
section at the rear end of an animal's body; in general, the term refers to a distinct, flexible appendage to the torso[WP].
(...) the integument of many tetrapods is reinforced by a morphologically and structurally diverse assemblage of skeletal elements. These elements are widely understood to be derivatives of the once all-encompassing dermal skeleton of stem-gnathostomes (...).[well established][VHOG]
in FMA, integumentary system = integument + certain glands. Note that here we use integumental system in a general sense, covering a variety of metazoans
organ system that protects the body from damage, comprising the skin and its adnexa (including hair, scales, and nails). The integumentary system has a variety of functions; it may serve to waterproof, cushion and protect the deeper tissues, excrete wastes, regulate temperature and is the location of receptors for pain, sensation, pressure and temperature. In humans the integumentary system additionally provides vitamin D synthesis[WP].
DOI:10.1111/j.1469-7580.2008.01043.x Vickaryous MK, Sire JY, The integumentary skeleton of tetrapods: origin, evolution, and development. J Anat (2009)
Editor note: it is necessary to introduce two classes, one representing an individual basal ganglion, another representing the aggregate structure, in order to have consistent classification amongst AOs (e.g. in MA the aygdala is part of the BG, in FMA and BTO it is a subclass). Apart from achieving this consistency, the value of having two distinct classes is questionable, since the BG-plural is trivially the set of all BGs-singular. it would be better for all AOs to decide on one single way of doing this. Do not merge until this is done.
one of a group of nuclei in the brains of vertebrates, situated at the base of the forebrain and strongly connected with the cerebral cortex, thalamus and other areas.ganglion in the head. The main components of the basal ganglia are the striatum, pallidum, substantia nigra, and subthalamic nucleus[WP]. Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF].
System responsible for the production and movement of bile[ZFIN:curator].
The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. The parts are: liver, bile duct, gall bladder and hepatic duct
A bone that is part of a limb [Automatically generated definition].
AO notes: NCITA includes clavicle. MA:'limb bone' is actually a bone of limb or girdle // Note that the formal definition is very inclusive, and includes sesamoids
The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus).
There exists some controversy about which podial segments are present in some fishes, e.g. if the autopod is not newly evolved in tetrapods, there is a question as to which segments are actually present in basal vertebrate taxa.[PHENOSCAPE:curators]
The proximal free limb segment. Includes as parts the stylopod skeleton.
Editor notes: Representation of utricle, sacule and otoliths in correspondence to other ontologies may require review. In EHDAA2, saccule and utricle are epithelia
In fishes, as in other vertebrates, the vestibular end-organs are divided into a gravity receptor system, with three subdivisions and an angular acceleration receptor system. The gravity receptor system on each side consists of utricular, saccular, and lagenar maculae, each covered by an otolith (reference 1); (...)considerations have led to our rethinking issues related to the origin of several aspects of vertebrate hearing, and to the view that many basic auditory functions evolved very early in vertebrate history, and that the functions observed in more `advanced' vertebrates, such as birds and mammals, are frequently modifications of themes first encountered in fishes, and perhaps even more ancestral animals (reference 2).[well established][VHOG]
PMID:11581521 Moorman SJ, Development of sensory systems in zebrafish (Danio rerio). ILAR Journal (2001), DOI:10.1016/S0378-5955(00)00168-4 Fay RR, Popper AN, Evolution of hearing in vertebrates: the inner ears and processing. Hearing research (2000)
A lymph node that is part of a mediastinum. Each consists of several lymph node groups, especially along the trachea (5 groups), along the esophagus and between the lung and the diaphragm. In the mediastinal lymph nodes arises lymphatic ducts, which draines the lymph to the left subclavian vein (to the venous angle in the confluence of the subclavian and deep jugular veins). The mediastinal lymph nodes along the esophagus are in tight connection with the abdominal lymph nodes along the esophagus and the stomach. That fact facilitates spreading of tumors cells through these lymphatics in cases of cancers of the stomach and particularly of the esophagus. Through the mediastinum, the main lymphatic drainage from the abdominal organs goes via the thoracic duct (ductus thoracicus), which drains majority of the lymph from the abdomen to the above mentioned left venous angle.
A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO].
(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (5) a larva or embryo with a postanal tail.[well established][VHOG]
Editor notes: See notes from UBERONREF:0000002
Rapidly proliferating mass of cells at the caudal extremity of the embryo. Its formation is reflected in a caudal carving of the posterior portion of the archenteric canal at NF stage 22. With its further outgrowth, the postanal gut primordium becomes stretched. Its lumen is in broad communication with the hindgut at NF stage 25.[AAO]
The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node.
a gonad with both testicular and ovarian aspects[WP].
A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995.[TAO]
The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995.
A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down.[well established][VHOG]
Numbered cranial to caudal. different in mammals. branchial arch = ZFA:0001613 pharyngeal arch 3-7. generally gill arch 1 = pharyngeal arch 3. terminology varies as to whether branchial arch follows gill or pharyngeal numbering
One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches
One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo.[AAO]
DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)
A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO]
Sensory system which develops from a specialized series of dorsolateral ectodermal placodes named lateral line placodes.[AAO]
The mechanosensory lateral line system is widely distributed in aquatic anamniotes. It was apparently present in the earliest vertebrates, as it has been identified in agnathans, cartilaginous fishes, bony fishes, lungfishes, the crossopterygian Latimeria, and aquatic amphibians.[well established][VHOG]
a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes.
relationship loss: is_formed_by lateral line receptor organ (AAO:0001001)[AAO]
ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptation (2005) p.195
Embryonic structure that forms as a thickened annulus at the blastoderm rim. The germ ring is thickened because it is the involuting margin of the blastoderm[ZFIN:ZDB-PUB-961014-576].
The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting of two layers in addition to the EVL, the epiblast and the hypoblast. The germ ring is formed by the involution of the blastoderm back upon itself[ZFA]
todo - check timing of appearance and disappearance - check relationship with primitive streak. he blastopore lips in amphibians appear to have the equivalent function of the germ ring in zebrafish (ES)
A small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran (butterfly and moth) species, scales are plates on the surface of the insect wing, and provide coloration. Scales are quite common and have evolved multiple times with varying structure and function.
Usage notes: currently defined in a very inclusive fashion - may be obsoleted and replaced by more specific classes in future versions. The TAO, VSAO amd ZFA classes by this name are classified as 'dermal scales'. Can also be classified by composition - e.g. pangolin keratin scales.
Our reinterpretation of the distal fin endoskeleton of Panderichthys removes the final piece of evidence supporting the formerly popular hypothesis that tetrapod digits are wholly new structures without homologues in sarcopterygian fish fins. This hypothesis, which was based partly on the complete absence of plausible digit homologues in Panderichthys (then the closest known relative of tetrapods), has already been called into question by the discovery of digit-like radials in Tiktaalik and the fact that Hox gene expression patterns closely resembling those associated with digit formation in tetrapods occur in the distal fin skeletons of paddlefish and Australian lungfish. Our new data show that Panderichthys is not an anomaly: like Tiktaalik and other fish members of the Tetrapodomorpha, it has distal radials that can be interpreted as digit homologues.[well established][VHOG]
one of several most distal parts of a limb, such as fingers or toes, present in many vertebrates[WP].
todo homology ZFA:0001588-pectoral fin distal radial. Note: This term is a GAT in FMA. Note: we elect to place a strict taxon constraint on this class - this is controversial, and may be weakened later on - see [Wikipedia:Digit_(anatomy)#Evolution]. AO notes: EMAPA mapping from TH
DOI:10.1038/nature07339 Boisvert CA, Mark-Kurik E and Ahlberg PE, The pectoral fin of Panderichthys and the origin of digits. Nature (2008)
The lateral postcentral gyrus is a prominent structure in the parietal lobe of the human brain and an important landmark. It was initially defined from surface stimulation studies of Penfield, and parallel surface potential studies of Bard, Woolsey, and Marshall. Although initially defined to be roughly the same as Brodmann areas 3, 1 and 2, more recent work by Kaas has suggested that for homogeny with other sensory fields only area 3 should be referred to as 'primary somatosensory cortex', as it received the bulk of the thalamocortical projection from the sensory input fields. [WP,unvetted].
The cerebral peduncle, by most classifications, is everything in the mesencephalon except the tectum. The region includes the midbrain tegmentum, crus cerebri, substantia nigra and pretectum. By this definition, the cerebral peduncles are also known as the basis pedunculi, while the large ventral bundle of efferent fibers is referred to as the crus cerebri or the pes pedunculi There are numerous nerve tracts located within this section of the brainstem. Of note, in the cerebral peduncular loop fibers from motor areas of the brain project to the cerebral peduncle and then project to various thalamic nuclei. In as much as the peduncles are an anatomic landmark, for details regarding the function of this area interested readers are referred to the individual referenced articles. On a broad scale, though, this area contains many nerve tracts conveying motor information to and from the brain to the rest of the body. Important fibers running through the cerebral peduncles include the corticospinal tract and the corticobulbar tract, among others. [WP,unvetted].
The superior frontal gyrus makes up about one-third of the frontal lobe of the human brain. It is bounded laterally by the superior frontal sulcus. The superior frontal gyrus, like the inferior frontal gyrus and the middle frontal gyrus, is more of a region than a true gyrus. [WP,unvetted].
The ventral tegmentum (tegmentum is Latin for covering), better known as the ventral tegmental area (VTA), is a group of neurons located close to the midline on the floor of the midbrain. The VTA, the origin of dopaminergic cell bodies that comprise the mesocorticolimbic dopamine system, is widely implicated in the drug and natural reward circuitry of the brain, cognition, motivation, drug addiction, and several psychiatric disorders. The VTA contains neurons that project to numerous areas of the brain, from the prefrontal cortex (PFC) to the caudal brainstem and everywhere in between. [WP,unvetted].
The primary motor cortex (or M1) is a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). [WP,unvetted].
Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK).
todo - check area vs complex. ABA:ENT this is part of the hippocampal formation via retrohippocampal region
A gyrus (plural gyri) is a bump or ridge on the surface of the brain. The superior temporal gyrus is one of three (sometimes two) gyri in the temporal lobe of the human brain. The superior temporal gyrus is bounded by: the lateral sulcus above; the superior temporal sulcus (not always present or visible) below; an imaginary line drawn from the preoccipital notch to the lateral sulcus posteriorly. The superior temporal gyrus contains several important structures of the brain, including: Brodmann areas 41 and 42, marking the location of the primary auditory cortex, the cortical region responsible for the sensation of sound; Wernicke's area, Brodmann 22p, an important region for the processing of speech so that it can be understood as language. [WP,unvetted].
Middle temporal gyrus is a gyrus in the brain on the Temporal lobe. It is located between the superior temporal gyrus and inferior temporal gyrus. Its exact function is unknown, but it has been connected with processes as different as contemplating distance, recognition of known faces, and accessing word meaning while reading. [WP,unvetted].
PMID:2286018 state: 'The presence of an additional cranial nerve (the nervus terminalis or cranial nerve zero) is well documented in many non-human vertebrate species. However, its existence in the adult human has been disputed. The present study focused on the structure and incidence of this nerve in the adult human brain. The nerve was examined post-mortem in 10 adult brains using dissection microscopy, light microscopy, transmission electron microscopy, and immunohistochemistry. In all specimens, the nervus terminalis was identified bilaterally as a microscopic plexus of unmyelinated peripheral nerve fascicles in the subarachnoid space covering the gyrus rectus of the orbital surface of the frontal lobes. The plexus appeared in the region of the cribriform plate of the ethmoid and coursed posteriorly to the vicinity of the olfactory trigone, medial olfactory gyrus, and lamina terminalis. We conclude that the terminal nerve is a common finding in the adult human brain, confirming early light microscopic reports.'
The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest.
The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest. Whitlock 2004. Also see Grens, Greenwood and Fernald, Brain Behav Evol 2005; 66(1):1-9.[TAO]
The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted].
A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity.
Olfactory placodes are the only ectodermal placodes to produce glia, a cell type typically derived from neural crest // Note that NBK53171 classifies this as non-neurogenic
We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43
Proliferative region that is part of the ventricular system.
Proliferative zone in the region of the neural tube adjacent to the lumen.
There are two primary regions that are thought to give rise to neurons that make up the cerebellum. The first region is the ventricular zone (the roof of the fourth ventricle). This area produces Purkinje cells and deep cerebellar nuclear neurons[BTO:0003654].
in BTO this is restricted to the 4th ventricle - however this class also represents the early ventricular zone as well as its post-natal remnants. The MA class is named 'ventricular zone of brain' and is presumably restricted to the post-natal zone
A transient rod-like structure which is endodermally derived and located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Eriksson and Lofberg, 2000.[TAO]
In other words, we identified variations in gene expression patterns that may contribute to a molecular basis of evolutionary variation of axial structures between Teleostei and Mammalia in the determination of body axis. As already mentioned, one such difference is illustrated by the hypochord present in lower vertebrates but absent in higher animals. Perhaps, Tbx-b and Tbx-c are involved in the mechanisms underlying the formation of this organ that were lost during later evolution leading to the disappearance of the hypochord itself, similarly to other organs, such as the lateral line.[uncertain][VHOG]
The hypochord is a transient rod-like structure in the embryos of fish, lampreys and amphibians that is located immediately ventral to the notochord. The hypochord may play a role in positioning the dorsal aorta[GO]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO]
Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived[ZFA]
Unsegmented ventral structure in the caudal region of anuran larvae; near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle.[AAO]
PMID:11548409 Korzh VP, T-box genes and developmental decisions that cells make. Russian Journal of Developmental Biology (2001)
It is reasonable to assume that the proximate invertebrate ancestor of the vertebrates had an amphioxus-like tail bud in its larval stage. This archetypal tail bud would have (...) (3) lacked any component of mesenchyme cells, (4) budded off new mesodermal segments directly, without any intervening zone of presomitic mesoderm (...). Then, early in vertebrate evolution, epithelium-to-mesenchyme interconversions (and the gene networks for effecting them) became prominent features of development. (...) In any case, conspicuous mesenchymal components tended to be added to the vertebrate tail bud itself. In addition, a mesenchymatous presomitic mesoderm (not a part of the tail bud proper) came to intervene between the tail bud and the forming somites.[well established][VHOG]
Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.
Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.[TAO]
DOI:10.1006/dbio.2001.0460 Schubert M, Holland LZ, Dale Stokes M and Holland ND, Three Amphoxius Wnt Genes (AmphiWnt3, AmphiWnt5, and AmphiWnt6) Associated with the Tail Bud: the Evolution of Somitogenesis in Chordates. Developmental Biology (2001)
AO notes: EHDAA2 distinguishes 3 types, but does not have a superclass. The VHOG class may refer to yolk sac
Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted].
Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension. Kimmel et al, 1995.[TAO]
Region located on the ventral surface of the developing embryo that is a site of hematopoiesis and that is analogous to the yolk sac blood islands of higher vertebrates.[AAO]
Small clusters of mesodermal cells called blood islands mark the embryonic debut of the cardiovascular system (in vertebrates) (reference 1); In birds and mammals, primitive hemangioblasts are extraembryonic, populating the yolk sac as the so-called blood islands (reference 2).[well established][VHOG]
relationship loss: part_of intermediate cell mass of mesoderm (TAO:0000033)[TAO]
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.450, DOI:10.1146/annurev.cellbio.22.010605.093317 Hartenstein V, Blood cells and blood cell development in the animal kingdom. Annual Review of Cell and Developmental Biology (2006)
Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. Wehman et al, 2005.
Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. Wehman et al, 2005.[TAO]
The retina of all vertebrates develops via similar mechanisms. Toward the end of retinal histogenesis, proliferating progenitors and newly generated cells are confined to peripheral regions of the retina. In fish and amphibians, this region is maintained after embryonic development and becomes the CMZ (ciliary margin zone). A CMZ exists in birds but compared to that of fish and amphibians this region produces much less new retina as the globe of the eye expands postnatally. At least some of the molecular mechanisms that regulate the addition of new cells in this zone appear to have been conserved from fish to birds.[well established][VHOG]
DOI:10.1159/000057571 Reh TA, Fischer AJ, Stem cells in the vertebrate retina. Brain Behav Evol (2001)
The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord.
The portion of the mesoderm underlying the midline of the embryo. [Gastrulation:_From_cells_to_embryo_(2004)_Cold_Spring_Harbor, Glossary_XV, New_York:_Cold_Spring_Harbor_Laboratory_Press, Stern_CD][VHOG]
A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]
Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. Kimmel et al, 1995. (Also see Anatomical Atlas entry for ear by T. Whitfield.)[TAO]
With the exception of the pigment cells of the stria vascularis and the secretory epithelium of the cochlea, which are of neural crest origin, all compo- nents of the inner ear derive from the otic placode. In most species the thickening of the ectoderm into a placode occurs in a region adjacent to rhombomere 5 (reviewed in Ohyama et al., 2007), while in amphibians the otic placode is centered onto rhombomere 4 (Ruiz i Altaba and Jessell, 1991).[NBK53175]
Fig9-5 of ISBN10:0471888893 calls this the profundus placode; XAO says 'profundal and the trigeminal ganglia are separate distally but fused at their proximal end...'
The dorsolateral placodes (trigeminal and vestibular) develop from ectoderm lateral to the brain (...). In summary, the collective term 'placodes' refers to some rather different structures, probably with different evolutionary origins. Some sensory placodes (at least the otic and olfactory) may have homologues in basal chordates. Even if this is so, it is apparent that they were elaborated considerably during early vertebrate evolution. Epibranchial and dorsolateral placodes appear to be new; we infer that their origin depended on the evolution of specific inductive signals.[well established][VHOG]
The ectodermal precursor of the trigeminal ganglion. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24.[XAO]
The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period. Kimmel et al, 1995.[TAO]
The ectodermal rudiment of the trigeminal ganglion.
(...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The optic cup induces the overlying surface ectoderm first to thicken as a lens placode and then to invaginate and form a lens vesicle that differentiates into the lens.[well established][VHOG]
A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP].
Classical transplantation experiments using amphibian embryos suggested that the optic vesicle is the source of lens-inducing signals sufficient to generate lens tissues in competent ectoderm (reviewed in Grainger et al., 1996). More recent findings suggest a multistep model for lens induction. There is now good evidence that lens specification occurs at the neurula stage, before the optic vesicle contact the surface ectoderm, and that neural crest cell migration in the frontonasal region is required to restrict the position of the lens placode (Bailey et al., 2006)[NBK53175]
Ectodermal primordium of the lens of the eye. Kimmel et al, 1995.[TAO]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.429
AO notes: note that all AOs differ in the relationship between this structure and the mesoderm; in ZFA it is a subclass (and this is implied by the GO definition and GO relationships), in AAO it is part of, and in EHDAA2 it develops from the mesoderm (but in EHDAA2 the naming convention is to use 'paraxial mesenchyme', rather than 'paraxial mesoderm'). Also in ZFA it is part of the trunk whereas this conflicts with the division into head and trunk in ehdaa2 (which we follow here)
Mesoderm lateral to the neural tube and notochord that is divided into cranial and post-cranial portions. The trunk portions further segment into somites.[AAO]
Presently, Cephalochordata, Urochordata, and Vertebrata are placed as subphyla of the phylum Chordata, in which the overall organization of embryonic tissues (dorsal hollow nerve cord, ventral digestive tract, axial notochord, and bilateral paraxial mesoderm) is largely conserved. In contrast, the echinoderms and hemichordates are sister groups of the chordates and they lack the notochord and paraxial mesoderm. Thus, the basic mesodermal organization of vertebrates must have appeared first in the common ancestor of the chordates.[well established][VHOG]
The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]
DOI:10.1002/dvdy.21177 Kusakabe R and Kuratani S. Evolutionary perspectives from development of mesodermal components in the lamprey. Developmental dynamics (2007)
Epibranchial placodes-derived neurons innervate internal organs to transmit information such as heart rate, blood pressure, and visceral distension from the periphery to the central nervous system (Baker and Bronner-Fraser, 2001). From rostral to caudal the epibranchial placodes comprise the geniculate, petrosal, and nodose placodes, each associated in sequence with the first, second and third branchial clefts. Each placode contributes sensory neurons to cranial nerves VII (facial nerve), IX (glossopharyngeal nerve), and X (vagal nerve), respectively[NBK53175]. AO notes: in XAO this develops_from dorsolateral placode, but in NBK53175, this is a separate group
Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia.
Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. [Graham_A, The_development_and_evolution_of_the_pharyngeal_arches._J_Anat_(2001)_199:_133-141][VHOG]
DOI:10.1046/j.1469-7580.2001.19910133.x Graham A, The development and evolution of the pharyngeal arches. J Anat (2001)
A ventral region of glial cells in the neural tube that provides inductive signals for the specification of neuronal cell types. The floor plate is evident at the ventral midline by the neural fold stage[GO]. A structure integral to the developing nervous system of vertebrate organisms. Located on the ventral midline of the embryonic neural tube, the floor plate is a specialized glial structure that spans the anteroposterior axis from the midbrain to the tail regions. It has been shown that the floor plate is conserved among vertebrates with homologous structures in invertebrates such as the fruit fly Drosophila and the nematode C. elegans. Functionally, the structure serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube[WP].
Note that although this is classically defined as being located on the neural tube, in many AOs the floor plate continues post-embryonically after the neural tube has ceased to exist. Consider 'floor plate of neural tube'.
Organizing center consisting of a small group of cells located at the ventral midline of the neural tube that influences the development of the nervous system, governing the specification of neuronal cell types and directing axonal trajectories.[AAO]
Post-cranial portion of the neural crest. Exact anatomical derivations not experimentally resolved in amphibians.[AAO]
Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia].
We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG]
Extension of the dorsal aorta in the tail. Kimmel et al, 1995.
Extension of the dorsal aorta in the tail. Kimmel et al, 1995.[TAO]
The posterior extension of the dorsal aorta to the tail region, which degenerates at metamorphosis.[AAO]
relationship loss: part_of axial vasculature (TAO:0001073)[TAO]
Anterior most portion of the neural crest. Migrates in three highly conserved streams: mandibular, hyoid and branchial.[AAO]
Neural crest that is part of the head.[TAO]
The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue [Wikipedia].
Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ.
Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ.[TAO]
Anatomical cluster that is located in the anterior region of the neurocranium and provides structural support for the olfactory organs.[AAO]
Development notes: Extra-embryonic ectoderm[PMID:19829370]. Taxon notes: The chorion of placentals is bilaminar as in reptiles and birds, but forms from the trophoblast and includes the ajdacent mesodermal layer [ISBN10:0073040584 "Vertebrates, Kardong"].
The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes. The chorionic villi emerge from the chorion, invade the endometrium, and allow transfer of nutrients from maternal blood to fetal blood.
The outer membrane enclosing the embryo in reptiles, birds, and mammals. [TFD][VHOG]
The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta[BTO:0000252].
An elongated tube which carries air to and from the lungs.[AAO]
In primitive fishes and most tetrapods, the lungs of adults are usually paired. They lie ventral to the digestive tract and are connected to the outside environment through the trachea.[well established][VHOG]
Taxon notes: in mouse 15-18 C-rings, 15-20 in human. [ISBN10:0123813611]. In birds, the trachea runs from the pharynx to the syrinx, from which the primary bronchi diverge. Swans have an unusually elongated trachea, part of which is coiled beneath the sternum; this may act as a resonator to amplify sound. In some birds, the cartilagenous rings are complete, and may even be ossified. In amphibians, the trachea is normally extremely short, and leads directly into the lungs, without clear primary bronchi. A longer trachea is, however found in some long-necked salamanders, and in caecilians. While there are irregular cartilagenous nodules on the amphibian trachea, these do not form the rings found in amniotes. The only vertebrate to have lungs, but no trachea, is Polypterus, in which the lungs arise directly from the pharynx.
The respiratory tube between the larynx and the bronchi. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]
The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph].
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.409
The term cranium can be ambiguous, in that it can refer to the neurocranium, or the neurocranium and the Facial skeleton[WP]. AO notes: the inclusion of the FMA class here is probably not quite correct, as this class includes as parts sutures, whereas this is not part of the bones of the cranium
Upper portion of the skull that excludes the mandible (when present in the organism).
Organism at the pupal stage. The pupal stage is a life stage of some insects undergoing transformation. The pupal stage is found only in holometabolous insects, those that undergo a complete metamorphosis, going through four life stages; embryo, larva, pupa and imago.
organ part that has the form of a hollow cavity[WP].
A floor plate that is part of a midbrain [Automatically generated definition].
Floor plate that is part of the midbrain.[TAO]
In summary, the available data for tunicates, amphioxus, and vertebrates indicate that a floorplate-like structure was already present in the proximate invertebrate ancestor of the vertebrates and that the genetic mechanisms for DV patterning of the nerve cord were also largely in place.[well established][VHOG]
relationship type change: subclass multi-tissue structure (CARO:0000055) CHANGED TO: develops_from multi-tissue structure (UBERON:0000481)[TAO]
relationship type change: subclass multi-tissue structure (CARO:0000055) CHANGED TO: part_of multi-tissue structure (UBERON:0000481)[TAO]
A muscle organ that is part of a hindlimb [Automatically generated definition].
body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron).
Enlarged vertebra with transverse processes (diapophyses), and ocassionally ribs, that are modified and elaborated for support of the pelvic girdle.[AAO]
The sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx (tailbone). In children, it consists of usually five unfused vertebrae which begin to fuse between ages 16-18 and are usually completely fused into a single bone by age 26. It is curved upon itself and placed obliquely (that is, tilted forward). It is kyphotic — that is, concave facing forwards. The base projects forward as the sacral promontory internally, and articulates with the last lumbar vertebra to form the prominent sacrovertebral angle. The central part is curved outward towards the posterior, allowing greater room for the pelvic cavity. [WP,unvetted].
The mediastinum is a non-delineated group of structures in the thorax, surrounded by loose connective tissue. It is the central compartment of the thoracic cavity. It contains the heart, the great vessels of the heart, esophagus, trachea, phrenic nerve, cardiac nerve, thoracic duct, thymus, and lymph nodes of the central chest. The mediastinum lies between the right and left pleura in and near the median sagittal plane of the chest. It extends from the sternum in front to the vertebral column behind, and contains all the thoracic viscera except the lungs. It may be divided for purposes of description into two parts:an upper portion, above the upper level of the pericardium, which is named the superior mediastinum with its superior limit at the superior thoracic opening and its inferior limit at the plane from the sternal angle to the disc of T4-T5 (Plane of Ludwig at Angle of Louis); and a lower portion, below the upper level of the pericardium. This lower portion is again subdivided into three parts, viz. that in front of the pericardium, the anterior mediastinum; that containing the pericardium and its contents, the middle mediastinum; and that behind the pericardium, the posterior mediastinum. It is surrounded by the chest wall anteriorly, the lungs laterally and the spine posteriorly. It is continuous with the loose connective tissue of the neck, and extends inferiorly onto the diaphragm.
A neural crest that developmentally_contributes_to a midbrain.
A neural crest that developmentally_contributes_to a telencephalon.
Cranial neural crest that is part of the telencephalon.[TAO]
A neural crest that developmentally_contributes_to a diencephalon.
(...) certain common components [of vertebral structure] are found in nearly all vertebrate. A representative vertebra has a vertebral arch or neural arch, which extends dorsally around the spinal cord.[well established][VHOG]
A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.[TAO]
Bony arch perched on the vertebral centrum; successive arches enclose the neural canal that surrounds and protects the spinal cord dorsally.[AAO]
Taxon notes: tiny neural arches present in Hagfish (which lack a true vertebraal column).
posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.
relationship loss: develops_from basidorsal (TAO:0001060)[TAO]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.270
Two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the utero-tubal junction[WP]. Embryos have two pairs of ducts to let gametes out of the body; one pair (the Mullerian ducts) develops in females into the Fallopian tubes, uterus and vagina, while the other pair (the Wolffian ducts) develops in males into the epididymis and vas deferens.
A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum.
Editor's note: consider adding further subdivisions of the endoderm, e.g. ventral foregut. Note we place two EFO classes here, it's not clear how they differ
A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses. Kimmel et al, 1995.[TAO]
A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature.
relationship loss: subclass myoseptum (TAO:0001089)[TAO]
AO notes: in EHDAA2 this has dorsal and ventral primordia as parts. the buds are part of the primordium, with the ducts developing from the buds; only parenchyma and ducts have contribution from buds. Terminology notes: revisit after standardizing terms 'primordium', 'anlagen', 'bud'
embryonic structure that develops into pancreatic bud.
The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. In humans, an embryonic structure that is an outgrowth of the duodenum during embryogenesis - joins together to form the adult pancreas[WP].
A cartilage element of chondrocranium. Example: neurocranial trabecula.
Mesenchyme that is part of a pectoral fin [Automatically generated definition].
Mesenchyme that is part of the pectoral fin.[TAO]
Stage IV (690-730 microns) are oocyte maturation. Selman et al, 1993.[TAO]
the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle
Note that FMA draws the distinction between e.g. 'fourth ventricle' and 'cavity of fourth ventricle'. The latter is a cavity, and part of the former, which is a region. The superclass of 'fourth ventricle' is_a 'region of ventricular system of the brain'. We place this class here, although it is not equivalent to ventricles, as it includes ventricle bodies.
one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid
A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG]
AO notes: VHOG and EMAPAA distinguish between pouch endoderm and pouch but we merge those here. Editor notes: consider adding location (precursor) - i.e. internal (endodermal) // The pouches are polarized structures. For example, whereas the rostral half of each pouch expresses Bmp-7, the caudal half expresses FGF-8 and the dorsal aspect of each pouch is marked via its expression of Pax-1. each pouch has an individual sense of identity. Shh expression is a prominent early feature of the caudal endoderm of the second arch, and individual pouches mark the anterior limits of expression of Hox genes within the pharyngeal endoderm; Hox-a2 has a rostral boundary at the second pouch, Hox-a3 at the third pouch and Hox-a4 at the most caudal pouch[PMID:16313389]
Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits. Crump et al, 2004.[TAO]
embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA].
DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M, Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)
Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction.
Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction.[AAO]
Kidneys and gonads (of vertebrates) develop from adjacent tissues, and after the excretory or urinary ducts have developed, the reproductive system usually taps into them or their derivatives.[well established][VHOG]
relationship type change: differentiates_from intermediate mesoderm (AAO:0010575) CHANGED TO: develops_from intermediate mesoderm (UBERON:0003064)[AAO]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.633
An epithelial tube that will give rise to the mature heart.
A pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches. The bulbus arteriosus has three distinct layers. Hu et al. 2000.[TAO]
Evolution notes: replaces conus arteriosis in cartilaginous fish
The bulbus arteriosus is an elastic heart chamber[GO]. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches[ZFA].
the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making
Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.
Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.[VSAO]
One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]
Paired vessels arching from the ventral to the dorsal aorta through the pharyngeal arches. [TFD][VHOG]
Usage notes: Do not confuse with arch of aorta. Editor notes: add specific artery derivatives. Development notes: The third, fourth, and sixth arches, along with the seventh intersegmental arteries and the left dorsal aorta, are the primary contributors to the normal aortic arch and its major thoracic branches. Taxon notes: Number varies - Lampreys have 8, hagfishes 15; only up to 6 appear in embryonic development in most gnathostome fishes and all tetrapods
mesopodial segment of the pes, including the tarsal skeleton and associated tissues.
note that this term refers to the limb segment. See also: tarsal bones and tarsal skeleton. AO notes: MA has both tarsus (part of foot, has tarsal bone) and ankle (part of hindlimb, has joint, nerve, skin).
Anatomical system that has as its parts the heart and blood vessels.
The vessels of the cardiovascular system are as varied as the diverse organs they supply. However, these variations are based on modifications of a fundamental plan of organization common to vertebrates.[well established][VHOG]
Usage notes: we treat cardiovascular as part of circulatory system, with the latter including other kinds of circulation, including lymph.
ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.451
A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities.
Corresponds to E7-E11 in Mouse (Galis et al, TREE, 2001)
A basibranchial element that is bone. Basibranchial elements are ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton
Medial element to which other parts of the hyoid apparatus are attached.[AAO]
Replacement bone that is ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton.[TAO]
relationship loss: develops_from copula (TAO:0001220)[TAO]
relationship loss: part_of hyoid apparatus skeleton (AAO:0000682)[AAO]
relationship loss: subclass basibranchial element (TAO:0001914)[TAO]
Commonly, the cleithrum is a large, well-ossified bone provided with a dorsal and a ventral arm that form an angle of about 90 or a few more degrees. The dorsal arm may end in a sharp or spine-like process to articulate with the supracleithrum. At the confluence of both arms the bone presents a blade extending postero-ventrally and that may have different development among fishes. The anterior edge of the cleithrum is usually thick and may produce a medial plate of different degrees of development.[TAO]
Dermal bone on the margin of the scapula. The cleithrum is attached to the skull in fishes, but free from the latter in amphibians and disappears early in the evolution of reptiles.
Dermal bone that articulates dorsally with the supracleithrum and ventro-medially with the scapula and coracoid and mesocoracoid bone when the last bone is present. With the posttemporal and supracleithrum, the cleithrum supports the primary pectoral girdle. The cleithrum is located immediately behind the branchial cavity.[TAO]
Paired bones of intramembranous origin. Each cleithrum extends medially from a point near the suprascapular-scapular articulation to invest the anterior margin of the suprascapula, and occasionoally it may extend to the dorsal (medial) surface. Usually, this bone is bifurcate.[AAO]
Taxon notes: Found in some early members of Chelonia (e.g. Triassochelys), but missing in all later forms.[VSAO]
Dermal bone that is usually the anteriormost bone of the lower jaw, and that articulates with the angular, or anguloarticular bone, posteriorly, and carries part of the mandibular sensory canal and pore openings of the mandibular sensory canal on its lateral surface. The dentary is a paired bone.[TAO]
Of all these bones [dentary, splenials, coronoids, angular, surangular and prearticular], only the dentary remains in the lower jaw of a mammal.[well established][VHOG]
Ossified element of intramembranous origin that invests the lateral margin of Meckel's cartilage thereby forming the lateral side of the mandible in anurans and salamanders (Duellman & Trueb, 1994:293). In caecilians, the dentary is part of a compound bone termed the pseudodentary.[AAO]
Taxon notes: In lobe-finned fishes and the early fossil tetrapods, the bone homologous to the mandible of mammals is merely the largest of several bones in the lower jaw. In such animals, it is referred to as the dentary bone, and forms the body of the outer surface of the jaw. It is bordered below by a number of splenial bones, while the angle of the jaw is formed by a lower angular bone and a suprangular bone just above it. The inner surface of the jaw is lined by a prearticular bone, while the articular bone forms the articulation with the skull proper. Finally a set of three narrow coronoid bones lie above the prearticular bone. As the name implies, the majority of the teeth are attached to the dentary, but there are commonly also teeth on the coronoid bones, and sometimes on the prearticular as well. This complex primitive pattern has, however, been simplified to various degrees in the great majority of vertebrates, as bones have either fused or vanished entirely. In teleosts, only the dentary, articular, and angular bones remain, while in living amphibians, the dentary is accompanied only by the prearticular, and, in salamanders, one of the coronoids. The lower jaw of reptiles has only a single coronoid and splenial, but retains all the other primitive bones except the prearticular.
The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified].
The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians. In mammals the lower jaw consists entirely of the dentary bone. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, ZFA:0000191_and_Liem_KF, p.248][VHOG]
relationship loss: overlaps dentary-anguloarticular joint (TAO:0001749)[TAO]
ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.248
An epithelium that is part of a uterine cervix [Automatically generated definition].
Histology notes: The epithelium of the cervix is varied. The ectocervix (more distal, by the vagina) is composed of nonkeratinized stratified squamous epithelium. The endocervix (more proximal, within the uterus) is composed of simple columnar epithelium[http://en.wikipedia.org/wiki/Cervix#Histology]
An endothelium that is part of an aorta [Automatically generated definition].
endothelium of trunk of systemic arterial tree
trunk of systemic arterial tree endothelium
Notochord rudiment[ZFIN:ZDB-PUB-961014-576].
The central region of trunk mesoderm. This tissue forms the notochord
note that WP treats this as synonym of axial mesoderm. Induces neural tube. Gilbert: contains an anterior head process and the notochord.
A mucosa that is part of a tongue [Automatically generated definition].
An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube. Kimmel et al, 1995.[TAO]
a solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN].
Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)[TAO]
Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells.
A vasculature that is part of a brain [Automatically generated definition].
Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo.
A blastema is a mass of cells capable of growth and regeneration into organs or body parts. Historically blastema have been thought to be composed of undifferentiated pluripotent cells, but recent research indicates that in some organisms blastema may retain memory of tissue origin.[1] Blastemata are typically found in the early stages of an organism's development such as in embryos, and in the regeneration of tissues, organs and bone[WP]. A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise[ZFA].
Note the ZFA class called 'blastema' belongs with the subclass, blastema of regenerating fin/limb
(In mammals) Odorant detection is mediated by millions of olfactory sensory neurons located in the olfactory epithelium lining the nasal cavity. These neurons transmit sensory signals to the olfactory bulb of the brain, which in turn sends signals to the olfactory cortex.[well established][VHOG]
Olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone[BTO].
Part of the telencephalon, comprised of paired anterior outgrowths of either of the cerebral hemispheres in which the olfactory nerve exits. In Xenopus,the olfactory bulbs begin to fuse at NF stage 50, fusion is complete around NF stage 58. The cerebral vein loops around the olfactory bulb by NF stage 43[XAO:0004180].
DOI:10.1111/j.1753-4887.2004.tb00097.x Buck LB, Olfactory receptors and odor coding in mammals. Nutrition Reviews (2008)
Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure.
The ventral striatum is a portion of the striatum. It consists of the nucleus accumbens and the olfactory tubercle. Some sources also include the ventromedial parts of the caudate nucleus and putamen. It is considered a reward center.
A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]
The temporary channel or blood vessel between the aorta and pulmonary artery in the fetus. [TFD][VHOG]
Although the zebrafish occupies a rather derived phylogenetic position within actinopterygians and even within teleosts, with respect to the mandibular, hyoid and hypobranchial muscles it seems justified to consider it an appropriate representative of these two groups. Among these muscles, the three with clear homologues in tetrapods and the further three identified in sarcopterygian fish are particularly appropriate for comparisons of results between the actinopterygian zebrafish and the sarcopterygians.[well established][VHOG]
Editor notes: PMID:19531159 states that facial muscles are hyoid muscles
One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. In humans, the muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized].
DOI:10.1186/1471-213X-8-24 Diogo R, Hinits Y, Hughes SM, Development of mandibular, hyoid and hypobranchial muscles in the zebrafish: homologies and evolution of these muscles within bony fishes and tetrapods. BMC Developmental Biology (2008)
Development notes: After gastrulation, neural crest cells are specified at the border of the neural plate and the non-neural ectoderm. Editor note: todo - epidermis? todo - track down EHDAA2 class in new release // Gene notes: One of the first genes to be expressed in nonneural ectoderm in amphioxus is BMP2/4 (Panopoulou et al. 1998). BMP2/4 homologues appear to have a very ancient role in distinguishing neural from nonneural ectoderm; in Drosophila as well as in amphioxus and vertebrates, BMP2/4 homologues are expressed in nonneural ectoderm and function in distinguishing neural from nonneural ectoderm (Francois & Bier, 1995 ; Sasai et al. 1995 ; Wilson & Hemmati-Brivanlou, 1995; Panopoulou et al. 1998). A change in level of BMP2/4 from very high in nonneural ectoderm to low in neural ectoderm appears to be a key factor in development of neural crest (Baker & Bronner-Fraser,1997a,1997b;Erickson&Reedy,1998;Marchantet al.1998 ;Selleck et al. 1998)
In the early gastrula of vertebrates, factors from the organizer (e.g. noggin, chordin, and follistatin in Xenopus) antagonize the epidermalizing factor bone morphogenetic protein 4 (BMP4), thus dividing the epiblast into neuroectoderm. In Drosophila, decapentaplegic, the homologue of BMP4, interacts similarly with the protein short gastrulation, the homologue of chordin. Thus, a comparable molecular mechanism for distinguishing non-neural ectoderm from neural ectoderm was probably present in the common ancestor of all bilaterally symmetrical animals.[well established][VHOG]
Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]
A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production. Willett et al, 1999.[TAO]
A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID].
Editor notes: we follow Kardong table 13.1 in having some developmental contribution of pouch 4 in mammals, but this isn't reflected in EHDAA2. Development notes: Consider adding distinct term for mesenchyme (see EHDAA2), to indicate NC constribution. Taxon notes: variability of developmental origin: In fish, thymic primordia are generated by all the pouches except the first. However, in avians the thymus arises from pouches 3 and 4, whereas in humans it is only generated by the third pouch[PMID:16313389] The thymus arises from the second pouch in frogs, 2-6 in cartilaginous fish, 2-3 in reptiles, 3 or 4 in bony fish, birds and mammals. The final number is variable - 5 paired organs in sharks, 4 in caecilians, 3 in urodeles, 1 in many teleost, anurans and many mammals[ISBN-10:0781714125]
Cranial neural crest which gives rise to the trigeminal ganglion.
Editor note: todo - compare ZFA and EHDAA2 representation
Immature reproductive tissue that has not undergone final maturation into either testis or ovary.[TAO]
Portion of tissue that gives rise to the immature gonad.
Taxon notes: this is a very broad grouping class
A rhombomere floor plate that is part of a rhombomere 2.
A rhombomere floor plate that is part of a rhombomere 3.
A rhombomere floor plate that is part of a rhombomere 4.
A rhombomere floor plate that is part of a rhombomere 5.
A rhombomere floor plate that is part of a rhombomere 6.
A rhombomere floor plate that is part of a rhombomere 7.
A rhombomere floor plate that is part of a rhombomere 8.
A mesoderm that develops_into a pronephros.
Portion of tissue that consists of the mesenchymal precursor to the pronephric kidney and that begins to separate from the intermediate mesoderm at NF stage 21 and epithelializes by NF stage 30.[AAO]
the intermediate mesoderm of the chick embryo acquires its ability to form kidneys through its interactions with the paraxial mesoderm [ISBN:9780878932504 "Developmental Biology", PMID:10720431 "Signals from trunk paraxial mesoderm induce pronephros formation in chick intermediate mesoderm"]. These interactions induce the expression of TFs including Lim1, Pax2 and Pax6 that cause the intermediate mesoderm to form the kidney
A sensory system that is capable of olfacttion (the sensory perception of smell).
In mammals, the main olfactory system detects odorants that are inhaled through the nose, where they contact the main olfactory epithelium, which contains various olfactory receptors. These olfactory receptors are membrane proteins of bipolar olfactory receptor neurons in the olfactory epithelium. Rather than binding specific ligands like most receptors, olfactory receptors display affinity for a range of odor molecules. Olfactory neurons transduce receptor activation into electrical signals in neurons. The signals travel along the olfactory nerve, which belongs to the peripheral nervous system. This nerve terminates in the olfactory bulb, which belongs to the central nervous system. The complex set of olfactory receptors on different olfactory neurons can distinguish a new odor from the background environmental odors and determine the concentration of the odor // Editor note: consider splitting into main and accessory. See also: vomeronasal organ // note we make the relationship to nervous system 'overlaps', as the olfactory system includes e.g. apertures in the cranium that are not part of the nervous system
The olfactory system is the sensory system used for olfaction, or the sense of smell. Most mammals and reptiles have two distinct parts to their olfactory system: a main olfactory system and an accessory olfactory system. The main olfactory system detects volatile, airborne substances, while the accessory olfactory system senses fluid-phase stimuli. Behavioral evidence indicates that most often, the stimuli detected by the accessory olfactory system are pheromones. The olfactory system is often spoken of along with the gustatory system as the chemosensory senses because both transduce chemical signals into perception[WP][Wikipedia:Olfactory_system].
The sensory system used for olfaction (the sense of smell).[AAO]
An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO].
By the upgrowth of the surrounding parts the olfactory areas are converted into pits, the nasal pits or olfactory pits, which indent the fronto-nasal process and divide it into a medial and two lateral nasal processes[Wikipedia:Nasal_pit].
we represent the relationship as develops from, though in fact the pit is formed as an indentation in the placode
One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)
One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO]
relationship loss: develops_from posterior lateral line primordium (TAO:0001157)[TAO]
relationship loss: part_of posterior lateral line system (TAO:0001471)[TAO]
Editors note: requires review. ZFA def: Presumptive structure at the animal poll of the blastula that will develop into ectoderm via the epiblast. Determined by fate mapping
A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous). May function as one or more of:- hydrostatic organ, sound producing organ, sound receptor, respiratory organ. Found in Actinopterygii. Often lacking in bottom fishes.
Cavitated compound organ that is double-chambered, located in the coelom and used to maintain buoyancy and may function as an acoustic resonator.[TAO]
A head mesenchyme that develops_from a mesoderm.
Editor note: merged in 'head mesoderm' from XAO/AAO and EFO here. Partially implements UBERONREF:0000002 NC meeting scheme
The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA].
Although there is mounting evidence showing the comparability of events and formation of different nascent tissue types during gastrulation and tail development, recent work also suggests the presence of an ongoing stem cell population capable of contributing to multiple tissue types in the tail of several different vertebrates, situated in the chordoneural hinge region of the tail bud. It would seem likely that secondary signaling centers regulate the fate to be adopted by such pluripotent progenitors.[well established][VHOG]
In mouse and chick, the derivative of the NSB (with a minor contribution from the CLE), the `chordo-neural-hinge'(CNH) (Cambray and Wilson, 2007; Catala et al., 1995; Charrier et al., 1999), contains progenitors for the ventral neural tube, somites and notochord (Cambray and Wilson, 2002; McGrew et al., 2008). The CNH is continuous with the most recently formed neural tube and notochord (Fig. 2C-D′). By contrast, the tissue immediately caudal to the CNH exclusively produces somites in mouse and chick (McGrew et al., 2008).
Portion of tissue is a posterior to the developing notochord during tailbud extension.[TAO]
Portion of tissue that is posterior to the developing notochord during tail bud extension.
DOI:10.1002/dvdy.20017 Liu C, Knezevic V, Mackem S, Ventral tail bud mesenchyme is a signaling for tail paraxial mesoderm induction. Developmental Dynamics (2004)
A pouch that is situated between the 1st and 2nd pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG]
First of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO]
In all jawed vertebrates the first arch forms the jaw, while the second arch forms the hyoid apparatus. These two arches are separated by the first pharyngeal pouch and cleft.[well established][VHOG]
The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery[WP]. The first pouch lies between the first and second arches[PMID]
we use adjacency relations rather than part_of, as in EHDAA2
DOI:10.1016/j.semcdb.2010.01.022 Grevellec A, Tucker AS, The pharyngeal pouches and clefts: development, evolution, structure and derivatives. Seminars in Cell and Developmental Biology (2010)
A pouch that is situated between the 2nd and 3rd pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG]
Second of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO]
The second pouch between the second and third arches. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve[WP]
A pouch that is situated between the 3rd and 4th pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG]
The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve[WP]. The third pouch lies between the third and fourth arches[PMID].
Third of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO]
A pouch that is situated between the 4th and 5th pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG]
A pouch that is situated between the 4th and 5th pharyngeal arch[Bard]. Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland. Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP]
Fourth of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO]
Fifth of the pharyngeal (endodermal) evaginations between the visceral arches.[AAO]
Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells[WP].
Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx[WP].
Sixth of the pharyngeal (endodermal) evaginations between the visceral arches.[AAO]
An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section.
An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. Kimmel et al, 1995.[TAO]
mesenchyme derived from head neural crest
Mesenchyme that develops_from a cranial neural crest.
head mesenchyme from cranial neural crest
The embryonic rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. Rhombomeres Rh7-Rh4 form the myelencephalon that will give the medulla oblongata. Rhombomeres Rh3-Rh1 form the metencephalon that will form the pons and the cerebellum[NPX:PDR].
The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, "rhombencephalosynapsis" is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure.
An embryonic midbrain hindbrain boundary that is part of a neurectoderm.
A presumptive structure that develops_into a presomitic mesoderm.
Presumptive structure fated to become the shield. Defined by fate mapping[ZFIN:curator].
A presumptive structure that develops_into a neural plate.
Region of the gastrula which gives rise to the neural plate.[TAO]
A presumptive structure that develops_into a paraxial mesoderm.
A presumptive structure that develops_into a floor plate.
A presumptive structure that develops_into a forebrain-midbrain boundary.
A presumptive structure that develops_into a rhombomere 3.
A presumptive structure that develops_into a rhombomere 4.
A presumptive structure that develops_into a rhombomere 5.
A presumptive structure that develops_into a rhombomere 6.
A presumptive structure that develops_into a rhombomere 7.
A presumptive structure that develops_into a rhombomere 8.
A presumptive structure that develops_into a pronephric mesoderm.
lateral mesenchyme derived from mesoderm
Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue.
Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots.
A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher.
Posterior-most stream of cranial neural crest, which sub-divides during migration.[AAO]
Type of mechanoreceptive organ of the lateral line which are arranged in lines on the body surface. These organs are constituted by hair cells and supporting cells and it is located in the epidermis with its hair cells exposed to the surface. Absent in some caecilians. These receptors receive afferent and efferent innervations.[AAO]
Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO]
relationship loss: part_of lateral line receptor organ (AAO:0001001)[AAO]
relationship loss: subclass lateral line receptor (AAO:0010705)[AAO]
Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus.
Branched region of the gill where respiratory exchange takes place. Kimmel et al, 1995.[TAO]
Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure.
Editor notes: consider adding more detailed spatial placement - e.g. oral ectoderm and/or rostal ectoderm. Addtional notes: Fate-mapping studies in amphibian, chick and mouse embryos (Eagleson et al., 1986; 1995; Couly and Le Douarin, 1985; Cobos et al., 2001; Osumi-Yamachita et al., 1994; Kawamura et al., 2002) have shown that the cells contributing to the adenohypophysis develop at the midline of the anterior neural ridge, which delineates the rostral boundary of the neural plate, a region devoid of neural crest. The anterior neural ridge also gives rise to the olfactory placodes and some forebrain tissues including the olfactory bulbs (reviewed in Papalopulu, 1995). Ablation of this region in chick embryos at the 2-4 somite stage confirmed these lineage analyses as it prevented formation of Rathke’s pouch and any further pituitary development (elAmraoui and Dubois, 1993). Upon head folding, the oral ectoderm cells of the adenohypophyseal placode invaginate towards the prospective ventral diencephalon to form Rathke’s pouch, the anlage of the adenohypophysis. Rathke’s pouch starts as an invagination of the oral ectoderm in response to inductive signals from the prospective diencephalon. The region of the diencephalon above the pouch is known as the infundibulum and forms the posterior lobe of the pituitary or neurohypohysis (Figure 3). While in most basal fish and tetrapods the adenohypophyseal anlagen invaginates to form Rathke’s pouch, in teleost fish the adenohypophyseal placode does not invaginate but rather maintains its initial organization forming a solid structure in the head (reviewed in Pogoda and Hammerschmidt; 2009)
The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary
The axilla is the area on the human body directly under the joint where the arm connects to the shoulder.
A presumptive structure that develops_into a midbrain.
Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID]
Includes: trigeminal, otic, lateral line and epibranchial placodes. Taxon notes: While some sensory placodes (otic and olfactory) may have homologues in basal chordates (Wada et al., 1998), the so-called neurogenenic placodes (trigeminal, otic, lateral line and epibranchial placodes) appear to have emerged at a later time (Shimeld and Holland, 2000)[NBK53171]
An epithelium that is part of a pancreatic duct.
Editor note: in EHDAA2, the embryonic pancreatic ducts (dorsal, ventral) are classified as eithelial sacs, which would render them subclasses this
Portion of tissue that is dorsolateral to the floor plate and part of the midbrain.
Editor's notes: May be obsoleted once added to insect ontology. Coordinate with cell type in CL
a single extraembryonic epithelium, which closes the germband dorsally.
Paired fin skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid.
A cartilage element that is part of a splanchnocranium.
Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG]
The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG].
Anatomical structure consisting of a series of membranes which allow dissolved oxygen from the water to pass into the bloodstream and carbon dioxide to pass out of the bloodstream.[AAO]
Gill slits in the pharyngeal region of the intestine, which are also present in (at least) tunicates and acranians, are taken over to the craniote ancestor.[well established][VHOG]
The respiratory organ of most aquatic animals that breathe water to obtain oxygen, consisting of a filamentous structure of vascular membranes across which dissolved gases are exchanged. [Free_Online_Dictionary]
ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.209
Chondrocranium cartilage that is initially plate-like and formed from the anterior fusion of the trabecula crani. The ethmoid cartilage is paired.[TAO]
Region between capsules formed by anterior tips of neurocranial trabeculae.
We assume the AAO structure is cartilage
Cartilage form of the hyomandibular element.
Pharyngeal arch cartilage that is bilaterally paired and articulates with the chondrocranium dorsally, the opercle bone posteriorly, and the palatoquadrate cartilage anteriorly.[TAO]
Taxon notes: The stapes is homologous to the hyomandibula. In this ontology, we use the class 'hyomandibular cartilage' generally to include the future stapes, the future hyomandibular bone of teleosts and the unossified cartilage in sharks.
This structure (the hyomandibular), on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.[well established][VHOG]
DOI:10.1017/S0022215100009087 Gerrie J, The phylogeny of the mammalian tympanic cavity and auditory ossicles. The Journal of Laryngology and Otology (1948)
An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment.
In teleosts, the complex is composed of several derived muscles that attach to different parts of the highly kinetic skull.
Is a mandibular muscle that forms along the palatoquadrates and inserts on Meckel's cartilages and functions in jaw closing[ZFA:0007049].
Editor notes: todo - coordinate with phenoscape-ext on representation of amphibian plantaris longus and profundus
Plantaris is a vestigial structure and one of the superficial muscles of the posterior crural compartment of the leg. It is innervated by the tibial nerve (S1, S2) . It is composed of a thin muscle belly and a long thin tendon. It is approximately 2-4 inches long, and is absent in 7 - 10% of the human population. It is one of the plantar flexors in the superior compartment of the leg along with the gastrocnemius, and soleus. The plantaris is considered an unimportant muscle, it mainly acts with gastrocnemius[WP].
Cord blood is collected because it contains stem cells, which can be used to treat hematopoietic and genetic disorders.[WP]
blood that remains in the placenta and in the attached umbilical cord after childbirth[WP].
Crescent shaped outer zone of the nucleus accumbens, defined by a combination of chemoarchitecture and afferent and efferent connections. The shell is distinguished from the more centrally located core through the notable reduction in staining for the calcium-binding protein calbindin D28K, which is dense in the core and virtually absent in the shell.
Musculature that is part of the dorsal fin.
This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon
nucleus of medial longitudinal fasciculus of medulla
nucleus of the medial longitudinal fasciculus medulla oblongata
Neuromast that is part of the middle lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
A neuromast that is part of the occipital lateral line.
A neuromast that is part of the supraorbital lateral line.
Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundar[ZFIN:curator]y
A unit of measurement is a standardized quantity of a physical quality.
A base unit which is a standard measure of the distance between two points.
A length unit is a base unit which is a standard measure of the distance between two points.
A unit which is a standard measure of the distance between two points.
A base unit which is a standard measure of the amount of matter/energy of a physical object.
A mass unit is a base unit which is a standard measure of the amount of matter/energy of a physical object.
A unit which is a standard measure of the amount of matter/energy of a physical object.
MassUnitOther[accessedResource: MO_11][accessDate: 05-04-2011]
MassUnit[accessedResource: MO_149][accessDate: 05-04-2011]
A base unit which is a standard measure of the dimension in which events occur in sequence.
A time unit is a base unit which is a standard measure of the dimension in which events occur in sequence.
A unit which is a standard measure of the dimension in which events occur in sequence.
TimeUnitOther[accessedResource: MO_103][accessDate: 05-04-2011]
TimeUnit[accessedResource: MO_166][accessDate: 05-04-2011]
A base unit which is a standard measure of the flow of electric charge.
A unit which is a standard measure of the flow of electric charge.
An electric current unit is a base unit which is a standard measure of the flow of electric charge.
A base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter.
A temperature unit is a base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter.
A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter.
TemperatureUnit[accessedResource: MO_48][accessDate: 05-04-2011]
A base unit which is a standardized quantity of an element or compound with uniform composition.
A substance unit is a base unit which is a standardised quantity of an element or compound with uniform composition.
A unit which is a standardised quantity of an element or compound with uniform composition.
A base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction.
A luminous intensity unit is a base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction.
A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction.
A length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second.
A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second.
m[accessedResource: MO_367][accessDate: 05-04-2011]
A kilogram is a mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France.
A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France.
kg[accessedResource: MO_846][accessDate: 05-04-2011]
A second is a time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom.
A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom.
An ampere is an electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length.
An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length.
A kelvin is a thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water.
A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water.
K[accessedResource: MO_614][accessDate: 05-04-2011]
A mole is a substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12.
A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12.
mol[accessedResource: MO_998][accessDate: 05-04-2011]
A candela is a luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian.
A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian.
A centimeter is a length unit which is equal to one hundredth of a meter or 10^-2 m.
A length unit which is equal to one hundredth of a meter or 10^[-2] m.
cm[accessedResource: MO_837][accessDate: 05-04-2011]
A length unit which is equal to one thousandth of a meter or 10^[-3] m.
A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m.
A length unit which is equal to one millionth of a meter or 10^[-6] m.
A micrometer is a length unit which is equal to 1m x 10^-6.
um[accessedResource: MO_421][accessDate: 05-04-2011]
A length unit which is equal to one thousandth of one millionth of a meter or 10^[-9] m.
A nanometer is a length unit which is equal to 1m x 10^-9.
A length unit which is equal to 10^[-12] m.
A picometer is a length unit which is equal to 1m x 10^-12.
A gram is a mass unit which is equal to one-thousanth of a kilogram.
A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg.
g[accessedResource: MO_825][accessDate: 05-04-2011]
A mass unit which is equal to one thousandth of a gram or 10^[-3] g.
A milligram is a mass unit which is equal to one-millionth of a kilogram.
mg[accessedResource: MO_949][accessDate: 05-04-2011]
A mass unit which is equal to one millionth of a gram or 10^[-6] g.
A microgram is a mass unit which is equal to 1 gram x 10^-6
ug[accessedResource: MO_438][accessDate: 05-04-2011]
A mass unit which is equal to one thousandth of one millionth of a gram or 10^[-9] g.
A microgram is a mass unit which is equal to 1 gram x 10^-9
ng[accessedResource: MO_796][accessDate: 05-04-2011]
A mass unit which is equal to one millionth of one millionth of a gram.
A picogram is a mass unit which is equal to 1 gram x 10^-12
A mass unit which is equal to 10^[-15] g.
A microgram is a mass unit which is equal to 1 gram x 10^-15
A temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K.
A temperature unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K.
Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K.
degrees_C[accessedResource: MO_980][accessDate: 05-04-2011]
A microsecond is a time unit which is equal to one millionth of a second or 10^-6 s.
A time unit which is equal to one millionth of a second or 10^[-6] s.
us[accessedResource: MO_795][accessDate: 05-04-2011]
A minute is a derived time unit which is equal to 60 seconds.
A time unit which is equal to 60 seconds.
A time unit which is equal to 3600 seconds or 60 minutes.
An hour is a derived time unit which is equal to 3600 seconds or 60 minutes.
A day is a derived time unit which is equal to 24 hours.
A week is a derived time unit which is equal to 7 days.
A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which is science is taken to be equal to 30 days.
A time unit which is approximately equal to the length of time of one of cycle of the moon's phases which is science is taken to be equal to 30 days.
A time unit which is equal to 12 months which is science is taken to be equal to 365.25 days.
A year is a derived time unit which is equal to 365.25 days.
A substance unit equal to a millionth of a mol or 10^[-6] mol.
umol[accessedResource: MO_752][accessDate: 05-04-2011]
A millimole is a substance unit equal to a thousandth of a mol or 10^[-3] mol.
A substance unit equal to a thousandth of a mol or 10^[-3] mol.
A nanomole is a substance unit equal to one thousandth of one millionth of a mole or 10^-9 mol.
A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol.
nmol[accessedResource: MO_743][accessDate: 05-04-2011]
A picomole is a substance unit equal to 10^-12 mol.
pmol[accessedResource: MO_688][accessDate: 05-04-2011]
A femtomole is a substance unit equal to 10^-15 mol.
fmol[accessedResource: MO_689][accessDate: 05-04-2011]
An attomole is a substance unit equal to 10^-18 mol.
amol[accessedResource: MO_977][accessDate: 05-04-2011]
A base unit is a unit which is used to measure a paticular type which is independent from all other base units and from which all measures of that type can be derived, for example, a length base unit of the meter. This is akin to the SI base unit system.
A unit which is one of a particular measure to which all measures of that type can be related.
A derived unit is a unit which is derived from base units.
A unit which is derived from base units.
A derived unit which is a standard measure of the amount of a 2-dimensional flat surface.
A unit which is a standard measure of the amount of a 2-dimensional flat surface.
An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface.
A concentration unit is a dervied unit which represents a standard measurement of how much of a given substance there is mixed with another substance.
A derived unit which represents a standard measurement of how much of a given substance there is mixed with another substance.
A unit which represents a standard measurement of how much of a given substance there is mixed with another substance.
ConcentrationUnitOther[accessedResource: MO_86][accessDate: 05-04-2011]
ConcentrationUnit[accessedResource: MO_61][accessDate: 05-04-2011]
A derived unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules.
A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules.
A concentration unit which is a standard measure of the number of moles of a given substance per liter of solution.
A derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution.
A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution.
A molar is a unit of molarity which expresses a concentration of 1 mole of solute per liter of solution (mol/L).
A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L).
M[accessedResource: MO_936][accessDate: 05-04-2011]
A millimolar is a unit of molarity which is equal to one thousandth of a molar or 10^-3 M.
A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M.
mM[accessedResource: MO_509][accessDate: 05-04-2011]
A unit of molarity which is equal to one millionth of a molar or 10^[-6] M.
uM[accessedResource: MO_740][accessDate: 05-04-2011]
A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M.
nm[accessedResource: MO_862][accessDate: 05-04-2011]
A unit of molarity which is equal to 10^[-12] M.
pM[accessedResource: MO_628][accessDate: 05-04-2011]
A unit of molarity which is equal to 10^[-15] M.
fM[accessedResource: MO_898][accessDate: 05-04-2011]
A square meter is an area unit which is equal to an area enclosed by a square with sides each 1 meter long.
An area unit which is equal to an area enclosed by a square with sides each 1 meter long.
A derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas.
A unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas.
A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas.
VolumeUnitOther[accessedResource: MO_155][accessDate: 05-04-2011]
VolumeUnit[accessedResource: MO_179][accessDate: 05-04-2011]
A cubic centimeter is a volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml.
A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml.
cc[accessedResource: MO_834][accessDate: 05-04-2011]
A milliliter is a volume unit which is equal to one thousandth of a liter or 10^-3 L, or to 1 cubic centimeter.
A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter.
ml[accessedResource: MO_488][accessDate: 05-04-2011]
A liter is a volume unit which is equal to one thousandth of a cubic meter or 10^-3 m^3, or to 1 decimeter.
A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter.
L[accessedResource: MO_444][accessDate: 05-04-2011]
A microliter is a volume unit which is equal to one millionth of a liter or 10^-6 L.
A volume unit which is equal to one millionth of a liter or 10^[-6] L.
ul[accessedResource: MO_926][accessDate: 05-04-2011]
A nanoliter is a volume unit which is equal to one thousandth of one millionth of a liter or 10^-9 L.
A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L.
nl[accessedResource: MO_754][accessDate: 05-04-2011]
A picoliter is a volume unit which is equal to 10^-12 L.
A volume unit which is equal to 10^[-12] L.
pl[accessedResource: MO_905][accessDate: 05-04-2011]
A femtoliter is a volume unit which is equal to 10^-15 L.
fl[accessedResource: MO_721][accessDate: 05-04-2011]
A unit which is a standard measure of the force applied to a given area.
A unit which is a standard measure of the luminous flux incident on a unit area.
An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared.
A unit which is a standard measure of the figure or space formed by the junction of two lines or planes.
A derived unit which represents a standard measurement of temperature in a particular temperature scale.
A dervied temperature unit is a derived unit which represents a standard measurement of temperature in a particular temperature scale.
A derived unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source.
A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source.
A derived unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue.
A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue.
An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter.
An absorbed dose unit which is equal to 0.01 gray (Gy).
A derived unit which is a standard measure of the dimension in which events occur in sequence.
A dervied time unit is a derived unit which is a standard measure of the dimension in which events occur in sequence.
microeinstein per square meter per second
microeinstein per second and square meter
A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture.
A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution.
A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6].
A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9].
A gram per liter is a density unit which is equal to mass of an object in grams divided by the volume in liters.
A mass unit density which is equal to mass of an object in grams divided by the volume in liters.
A mass unit density which is equal to mass of an object in milligrams divided by the volume in milliliters.
A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters.
A density unit is a derived unit which is a standard measure of the influence exerted by some mass.
A derived unit which is a standard measure of the influence exerted by some mass.
A unit which is a standard measure of the influence exerted by some mass.
degree
A decimal degree (in full, a degree of arc, arc degree, or arcdegree), usually denoted by ° (the degree symbol), is a measurement of planeangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad.
A derived unit which is a standard measure of physical quantity consisting of only a numerical number without any units.
A unit which is a standard measure of physical quantity consisting of only a numerical number without any units.
A dimensionless ratio unit which denotes numbers as fractions of 100.
Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]
A temperature derived unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius.
A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius.
degrees_F[accessedResource: MO_812][accessDate: 05-04-2011]
A milliliter per liter is a unit of concentrationdefined as a volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution.
A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution.
A deciliter is a volume unit which is equal to one tenth of a liter or 10^-1 L.
A volume unit which is equal to one tenth of a liter or 10^[-1] L.
dl[accessedResource: MO_624][accessDate: 05-04-2011]
A dalton is a mass unit is an independent unit to the base SI units and is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state.
An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state.
A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters.
The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy).
Not used - already a cell line parent class
A mature male germ cell that develops from a spermatid.
A mature male germ cell that develops from a spermatid.[accessedResource: ZFA:0009006][accessDate: 05-04-2011]
A mature, haploid male gamete.[accessedResource: FBbt:00004954][accessDate: 05-04-2011]
Mature sperm cell[accessedResource: FMAID:67338][accessDate: 05-04-2011]
Spermatozoon[accessedResource: FMAID:67338][accessDate: 05-04-2011]
sperm cell[accessedResource: ZFA:0009006][accessDate: 05-04-2011]
spermatazoon[accessedResource: MAT:0000131][accessDate: 05-04-2011]
spermatozoid[accessedResource: ZFA:0009006][accessDate: 05-04-2011]
A female germ cell that has entered meiosis.
A female germ cell that has entered meiosis.[accessedResource: CL:0000023][accessDate: 05-04-2011]
A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization.
A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization.[accessedResource: CL:0000025][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000213
egg[accessedResource: MAT:0000213][accessDate: 05-04-2011]
mature oocyte[accessedResource: CL:0000025][accessDate: 05-04-2011]
ovum[accessedResource: CL:0000025][accessDate: 05-04-2011]
A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.[accessedResource: CL:0000034][accessDate: 05-04-2011]
A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system.
A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76.
A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76.[accessedResource: CL:0000037][accessDate: 05-04-2011]
HSC[accessedResource: CL:0000037][accessDate: 05-04-2011]
blood forming stem cell[accessedResource: CL:0000037][accessDate: 05-04-2011]
hemopoietic stem cell[accessedResource: CL:0000037][accessDate: 05-04-2011]
A progenitor cell committed to the erythroid lineage.
A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative).
A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative).[accessedResource: CL:0000038][accessDate: 05-04-2011]
Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors.
Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors.[accessedResource: CL:0000047][accessDate: 05-04-2011]
A stem cell that can give rise to mulitple lineages of cells.
A stem cell that can give rise to multiple lineages of cells.
A stem cell that can give rise to multiple lineages of cells.[accessedResource: CL:0000048][accessDate: 05-04-2011]
Multipotent cell[accessedResource: CL:0000048][accessDate: 05-04-2011]
multi fate stem cell[accessedResource: CL:0000048][accessDate: 05-04-2011]
multi-fate stem cell[accessedResource: CL:0000048][accessDate: 05-04-2011]
multifate stem cell[accessedResource: CL:0000048][accessDate: 05-04-2011]
A precursor cell with a limited number of potential fates.
A precursor cell with a limited number of potential fates.[accessedResource: CL:0000055][accessDate: 05-04-2011]
non-terminally differentiated cell[accessedResource: CL:0000055][accessDate: 05-04-2011]
An embryonic (precursor) cell of the myogenic lineage that develops from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes.
An embryonic (precursor) cell of the myogenic lineage that develops from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes.[accessedResource: CL:0000056][accessDate: 05-04-2011]
An embryonic cell that becomes a cell of muscle fiber.
An embryonic cell that becomes a cell of muscle fiber.[accessedResource: BTO:0000222][accessDate: 05-04-2011]
A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules.
A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.
A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.[accessedResource: CL:0000057][accessDate: 05-04-2011]
A connective-tissue cell of mesenchymal origin that secretes proteins and especially molecular collagen from which the extracellular fibrillar matrix of connective tissue forms.
A connective-tissue cell of mesenchymal origin that secretes proteins and especially molecular collagen from which the extracellular fibrillar matrix of connective tissue forms.[accessedResource: BTO:0000452][accessDate: 05-04-2011]
A large, flat, oval cell found in connective tissue and responsible for the formation of fibers.
A large, flat, oval cell found in connective tissue and responsible for the formation of fibers.[accessedResource: NIFSTD:nlx_cell_20090201][accessDate: 05-04-2011]
A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone.
A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone.[accessedResource: CL:0000062][accessDate: 05-04-2011]
A cell that is usually found in a two-dimensional sheet with a free surface.
A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina.
A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina.[accessedResource: CL:0000066][accessDate: 05-04-2011]
Cell that cover the surface of the body and line its cavities.
Cell that cover the surface of the body and line its cavities.[accessedResource: BTO:0000414][accessDate: 05-04-2011]
Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH).
Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH).[accessedResource: NIFSTD:sao441624014][accessDate: 05-04-2011]
Epitheliocyte[accessedResource: CL:0000066][accessDate: 05-04-2011]
Cuboidal endothelial cell of vascular tree
Cuboidal endothelial cell of vascular tree[accessedResource: CL:0000071][accessDate: 05-04-2011]
The endothelial cells that line the vasculature.
The endothelial cells that line the vasculature.[accessedResource: CL:0000071][accessDate: 05-04-2011]
A flattened epithelial cell of mesenchymal origin that lines the serous cavity.
A flattened epithelial cell of mesenchymal origin that lines the serous cavity.[accessedResource: CL:0000077][accessDate: 05-04-2011]
Mesotheliocyte[accessedResource: CL:0000077][accessDate: 05-04-2011]
A cell which moves among different tissues of the body, via blood, lymph, or other medium.
A cell which moves among different tissues of the body, via blood, lymph, or other medium.[accessedResource: CL:0000080][accessDate: 05-04-2011]
A cell found predominately in the blood.
A cell found predominately in the blood.[accessedResource: CL:0000081][accessDate: 05-04-2011]
An epithelial cell of the pancreas.[accessedResource: CL:0000083][accessDate: 05-04-2011]
Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done.
Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done.[accessedResource: BTO:0000028][accessDate: 05-04-2011]
epithelial cell of pancreas[accessedResource: CL:0000083][accessDate: 05-04-2011]
pancreatic acinar cell[accessedResource: BTO:0000028][accessDate: 05-04-2011]
A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex.
A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex.[accessedResource: CL:0000084][accessDate: 05-04-2011]
T lymphocyte[accessedResource: CL:0000084][accessDate: 05-04-2011]
T-cell[accessedResource: CL:0000084][accessDate: 05-04-2011]
T-lymphocyte[accessedResource: CL:0000084][accessDate: 05-04-2011]
A leukocyte with abundant granules in the cytoplasm.
A leukocyte with abundant granules in the cytoplasm.[accessedResource: CL:0000094][accessDate: 05-04-2011]
A polymorphonuclear white blood cell with granule-containing cytoplasm.
A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes.
A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes.[accessedResource: BTO:0000539][accessDate: 05-04-2011]
Granular leucocyte[accessedResource: CL:0000094][accessDate: 05-04-2011]
Granular leukocyte[accessedResource: CL:0000094][accessDate: 05-04-2011]
Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions.
Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions.[accessedResource: CL:0000099][accessDate: 05-04-2011]
An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement.
An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement.[accessedResource: CL:0000100][accessDate: 05-04-2011]
Neurons which activate muscle cells (MSH).
Neurons which activate muscle cells (MSH).[accessedResource: NIFSTD:sao1460710779][accessDate: 05-04-2011]
anterior horn cell[accessedResource: CL:0000100][accessDate: 05-04-2011]
motoneuron[accessedResource: CL:0000100][accessDate: 05-04-2011]
Any neuron having a sensory function; an afferent neuron conveying sensory impulses.
Any neuron having a sensory function; an afferent neuron conveying sensory impulses.[accessedResource: CL:0000101][accessDate: 05-04-2011]
A neuron that is part of nerve found outside the central nervous system.
A neuron that is part of nerve found outside the central nervous system.[accessedResource: CL:0000111][accessDate: 05-04-2011]
PNS - somatic[accessedResource: MAT:0000099][accessDate: 05-04-2011]
Peripheral nervous system[accessedResource: FMAID:9903][accessDate: 05-04-2011]
peripheral neuron[accessedResource: CL:0000111][accessDate: 05-04-2011]
sensory axons peripheral[accessedResource: ZFA:0000070][accessDate: 05-04-2011]
An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm.
An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm.[accessedResource: CL:0000115][accessDate: 05-04-2011]
Endotheliocyte[accessedResource: CL:0000115][accessDate: 05-04-2011]
The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart.
The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart.[accessedResource: BTO:0001176][accessDate: 05-04-2011]
A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons.
A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. (Reichenbach and Wolburg)
A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. (Reichenbach and Wolburg)[accessedResource: NIFSTD:sao313023570][accessDate: 05-04-2011]
A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons.[accessedResource: CL:0000125][accessDate: 05-04-2011]
MERGED DEFINITION:nTARGET DEFINITION: The delicate network of branched cells and fibers that supports the tissue of the central nervous system.n--------------------nSOURCE DEFINITION: The cells of the supportive tissue of the central nervous system (neuroglia). These non-neural cells are of three kinds: astrocytes, oligodendrocytes (collectively termed macroglia) and microglia.
The delicate network of branched cells and fibers that supports the tissue of the central nervous system.
The delicate network of branched cells and fibers that supports the tissue of the central nervous system.[accessedResource: BTO:0000524][accessDate: 05-04-2011]
glia[accessedResource: NIFSTD:sao313023570][accessDate: 05-04-2011]
neuroglial cell[accessedResource: CL:0000125][accessDate: 05-04-2011]
A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with microglia) respond to injury (MSH).
A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with microglia) respond to injury (MSH).[accessedResource: NIFSTD:sao1394521419][accessDate: 05-04-2011]
A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury.
A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury.[accessedResource: CL:0000127][accessDate: 05-04-2011]
cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and
A class of large neuroglial (macroglial) cells in the central nervous system. Form the insulating myelin sheath of axons in the central nervous system.
A class of large neuroglial (macroglial) cells in the central nervous system. Form the insulating myelin sheath of axons in the central nervous system.[accessedResource: CL:0000128][accessDate: 05-04-2011]
A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH).
A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH).[accessedResource: NIFSTD:sao844118448][accessDate: 05-04-2011]
oligodendroglia[accessedResource: NIFSTD:sao844118448][accessDate: 05-04-2011]
A central nervous system macrophage found in the parenchyma of the central nervous system.
A central nervous system macrophage found in the parenchyma of the central nervous system. Marker include CD11b-positive, F4/80-positive, and CD68-positive.
A central nervous system macrophage found in the parenchyma of the central nervous system. Marker include CD11b-positive, F4/80-positive, and CD68-positive.[accessedResource: CL:0000129][accessDate: 05-04-2011]
A small, migratory, phagocytic, interstitial cell of hematopoietic origin found in the central nervous system. Microglial cells are of various forms and may have slender branched processes.
A small, migratory, phagocytic, interstitial cell of hematopoietic origin found in the central nervous system. Microglial cells are of various forms and may have slender branched processes.[accessedResource: NIFSTD:sao789292116][accessDate: 05-04-2011]
MERGED DEFINITION:nTARGET DEFINITION: The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue. n--------------------nSOURCE DEFINITION: One of the small interstitial phagocytic cells of the microglia.
The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue.
The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue.[accessedResource: BTO:0000078][accessDate: 05-04-2011]
microglia[accessedResource: BTO:0000078][accessDate: 05-04-2011]
mixed glial cells (predominantly microglia)
A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides.
A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides.[accessedResource: CL:0000136][accessDate: 05-04-2011]
A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides.
adipocyte[accessedResource: CL:0000136][accessDate: 05-04-2011]
adipose cell[accessedResource: CL:0000136][accessDate: 05-04-2011]
Polymorphic cell that form cartilage.[accessedResource: CL:0000138][accessDate: 05-04-2011]
cartilage cell[accessedResource: CL:0000138][accessDate: 05-04-2011]
A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance.
A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance.[accessedResource: CL:0000148][accessDate: 05-04-2011]
An epidermal cell that produces melanin.
An epidermal cell that produces melanin.[accessedResource: BTO:0000847][accessDate: 05-04-2011]
A cell that specializes in controlled release of one or more substances.
A cell that specializes in controlled release of one or more substances.[accessedResource: CL:0000151][accessDate: 05-04-2011]
A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl.
A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl.[accessedResource: CL:0000162][accessDate: 05-04-2011]
oxyntic cell[accessedResource: CL:0000162][accessDate: 05-04-2011]
A neuron that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system.
A neuron that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system.[accessedResource: CL:0000165][accessDate: 05-04-2011]
Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. An example of a neuroendocrine cell is the cell of the adrenal medulla which releases adrenalin to the blood. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood.
Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. An example of a neuroendocrine cell is the cell of the adrenal medulla which releases adrenalin to the blood. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood.[accessedResource: BTO:0002691][accessDate: 05-04-2011]
Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation.
neurosecretory cell[accessedResource: CL:0000165][accessDate: 05-04-2011]
A cell that composes the bulk of the islets of Langerhans and secretes insulin.
A cell that composes the bulk of the islets of Langerhans and secretes insulin.[accessedResource: NCIt:C32199][accessDate: 05-04-2011]
Insulin Cell[accessedResource: NCIt:C32199][accessDate: 05-04-2011]
Insulin Secreting Cell[accessedResource: NCIt:C32199][accessDate: 05-04-2011]
A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon.
A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon.[accessedResource: CL:0000171][accessDate: 05-04-2011]
pancreatic A cell[accessedResource: CL:0000171][accessDate: 05-04-2011]
pancreatic alpha cell[accessedResource: CL:0000171][accessDate: 05-04-2011]
A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis.
A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis.[accessedResource: CL:0000178][accessDate: 05-04-2011]
interstitial cell[accessedResource: CL:0000178][accessDate: 05-04-2011]
A liver cell.[accessedResource: BTO:0000575][accessDate: 05-04-2011]
The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules.
The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated.
The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated.[accessedResource: CL:0000182][accessDate: 05-04-2011]
A mature contractile cell, commonly known as a myocyte, that forms one of three kinds of muscle.
A mature contractile cell, commonly known as a myocyte, that forms one of three kinds of muscle. This cell has as part of its cytoplasm myofibrils organized in various patterns.
A mature contractile cell, commonly known as a myocyte, that forms one of three kinds of muscle. This cell has as part of its cytoplasm myofibrils organized in various patterns.[accessedResource: CL:0000187][accessDate: 05-04-2011]
Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH).
Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH).[accessedResource: NIFSTD:sao519252327][accessDate: 05-04-2011]
myocyte[accessedResource: CL:0000187][accessDate: 05-04-2011]
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.[accessedResource: MSH:D018482][accessDate: 05-04-2011]
A usually voluntary muscle made up of elongated, multinucleated, transversely striated muscle fibers, having principally bony attachments.
A usually voluntary muscle made up of elongated, multinucleated, transversely striated muscle fibers, having principally bony attachments.[accessedResource: BTO:0001103][accessDate: 05-04-2011]
Anterior Tibial Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Gastrocnemius Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011]
MUSCLE SKELETAL[accessedResource: MSH:D018482][accessDate: 05-04-2011]
MUSCLE VOLUNTARY[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Muscle organ[accessedResource: FMAID:5022][accessDate: 05-04-2011]
Muscle, Anterior Tibial[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Muscle, Gastrocnemius[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Muscle, Plantaris[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Muscle, Skeletal[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Muscle, Soleus[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Muscle, Voluntary[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Muscles, Skeletal[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Muscles, Voluntary[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Nonparenchymatous organ that primarily consists of skeletal muscle tissue aggregated into macroscopic fasciculi by connective tissue; together with other muscles, it constitutes the muscular system. Examples: biceps, diaphragm, masseter, right third external intercostal muscle, external oblique, levator ani, serratus anterior.
Plantaris Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Skeletal Muscles[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Skeletal muscle fiber[accessedResource: CL:0000188][accessDate: 05-04-2011]
Soleus Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Striated muscle cell which has as its direct parts two or more peripherally located nuclei.
Striated muscle cell which has as its direct parts two or more peripherally located nuclei.[accessedResource: CL:0000188][accessDate: 05-04-2011]
Tibial Muscle, Anterior[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Voluntary Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011]
Voluntary Muscles[accessedResource: MSH:D018482][accessDate: 05-04-2011]
skeletal muscle cell[accessedResource: CL:0000188][accessDate: 05-04-2011]
skeletal muscle system[accessedResource: MAT:0000302][accessDate: 05-04-2011]
A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast).
A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast).[accessedResource: CL:0000192][accessDate: 05-04-2011]
Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH).
Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH).[accessedResource: NIFSTD:sao676858164][accessDate: 05-04-2011]
non-striated muscle cell[accessedResource: CL:0000192][accessDate: 05-04-2011]
smooth muscle fiber[accessedResource: CL:0000192][accessDate: 05-04-2011]
A mechanoreceptor cell located in the inner ear that is sensitive to auditory stimuli. The accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system.
A mechanoreceptor cell located in the inner ear that is sensitive to auditory stimuli. The accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system.[accessedResource: CL:0000202][accessDate: 05-04-2011]
A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system.
auditory hair cell[accessedResource: CL:0000202][accessDate: 05-04-2011]
auditory receptor cell[accessedResource: CL:0000202][accessDate: 05-04-2011]
A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier.
A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier.[accessedResource: CL:0000216][accessDate: 05-04-2011]
A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons.
A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons.[accessedResource: CL:0000218][accessDate: 05-04-2011]
Neurilemmal cell[accessedResource: CL:0000218][accessDate: 05-04-2011]
myelinating Schwann cell[accessedResource: CL:0000218][accessDate: 05-04-2011]
A cell of the middle germ layer of the embryo.
A cell of the middle germ layer of the embryo.[accessedResource: CL:0000222][accessDate: 05-04-2011]
mesoblast[accessedResource: CL:0000222][accessDate: 05-04-2011]
mesoderm cell[accessedResource: CL:0000222][accessDate: 05-04-2011]
A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen.
A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen.[accessedResource: CL:0000232][accessDate: 05-04-2011]
A red blood cell. In mammals, mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen.
Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood.
Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood.[accessedResource: BTO:0000424][accessDate: 05-04-2011]
RBC[accessedResource: CL:0000232][accessDate: 05-04-2011]
red blood cell[accessedResource: CL:0000232][accessDate: 05-04-2011]
A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.
A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.[accessedResource: CL:0000233][accessDate: 05-04-2011]
blood platelet[accessedResource: CL:0000233][accessDate: 05-04-2011]
A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells.
A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells.[accessedResource: CL:0000235][accessDate: 05-04-2011]
A mononuclear phagocyte which differentiates from monocytes, is typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells (Cell Ontology).
A mononuclear phagocyte which differentiates from monocytes, is typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells (Cell Ontology).[accessedResource: NIFSTD:sao185843373][accessDate: 05-04-2011]
Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells.
Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells.[accessedResource: BTO:0000801][accessDate: 05-04-2011]
histiocyte[accessedResource: CL:0000235][accessDate: 05-04-2011]
A lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
A lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.[accessedResource: CL:0000236][accessDate: 05-04-2011]
A lymphocyte of B lineage with the phenotype CD19-positive and surface immunoglobulin-positive.
B Cells[accessedResource: NCIt:C12474][accessDate: 05-04-2011]
B Lymphocytes[accessedResource: NCIt:C12474][accessDate: 05-04-2011]
B lymphocyte[accessedResource: CL:0000236][accessDate: 05-04-2011]
B-Cells[accessedResource: NCIt:C12474][accessDate: 05-04-2011]
B-Lymphocyte[accessedResource: NCIt:C12474][accessDate: 05-04-2011]
B-Lymphocytes[accessedResource: NCIt:C12474][accessDate: 05-04-2011]
B-cell[accessedResource: CL:0000236][accessDate: 05-04-2011]
Bursa-Dependent Lymphocytes[accessedResource: NCIt:C12474][accessDate: 05-04-2011]
Bursa-Equivalent Lymphocyte[accessedResource: NCIt:C12474][accessDate: 05-04-2011]
Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins.
Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins.[accessedResource: NCIt:C12474][accessDate: 05-04-2011]
A haploid (1n) spore developing into a female gametophyte in heterosporous plants.
A haploid (1n) spore developing into a female gametophyte in heterosporous plants.[accessedResource: CL:0000250][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000214
A haploid (1n) spore developing into a male gametophyte in heterosporous plants; the uninucleate pollen grain in seed plants.
A haploid (1n) spore developing into a male gametophyte in heterosporous plants; the uninucleate pollen grain in seed plants.[accessedResource: CL:0000252][accessDate: 05-04-2011]
Haploid cells produced by meiosis in the anthers of angiosperms; four microspores are produced from a single microsporocyte.
Haploid cells produced by meiosis in the anthers of angiosperms; four microspores are produced from a single microsporocyte.[accessedResource: BTO:0000124][accessDate: 05-04-2011]
The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity.
The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity.[accessedResource: BTO:0001097][accessDate: 05-04-2011]
microspore[accessedResource: CL:0000252][accessDate: 05-04-2011]
One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor.
One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor.[accessedResource: CL:0000292][accessDate: 05-04-2011]
stomatal guard cell[accessedResource: CL:0000292][accessDate: 05-04-2011]
An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.
An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.[accessedResource: CL:0000312][accessDate: 05-04-2011]
Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.
Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis.
Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis.[accessedResource: BTO:0000667][accessDate: 05-04-2011]
malpighian cell[accessedResource: CL:0000312][accessDate: 05-04-2011]
A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells.
A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells.[accessedResource: CL:0000333][accessDate: 05-04-2011]
A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation.
A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation.[accessedResource: CL:0000336][accessDate: 05-04-2011]
A flattened, roughly triangular body resting upon the upper end of each kidney; it is one of the ductless glands furnishing internal secretions (epinephrine and norepinephrine from the medulla and steroid hormones from the cortex).
A flattened, roughly triangular body resting upon the upper end of each kidney; it is one of the ductless glands furnishing internal secretions (epinephrine and norepinephrine from the medulla and steroid hormones from the cortex).[accessedResource: NCIt:C12666][accessDate: 05-04-2011]
Adrenal Glands[accessedResource: NCIt:C12666][accessDate: 05-04-2011]
Adrenals[accessedResource: NCIt:C12666][accessDate: 05-04-2011]
Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine.
Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine.[accessedResource: BTO:0000047][accessDate: 05-04-2011]
Suprarenal gland[accessedResource: FMAID:9604][accessDate: 05-04-2011]
adrenal medulla cell[accessedResource: TAO:0009167][accessDate: 05-04-2011]
adrenal medulla chromaffin cell[accessedResource: CL:0000336][accessDate: 05-04-2011]
chromafin cell[accessedResource: CL:0000336][accessDate: 05-04-2011]
An embryonic cell that develops into a nerve cell or neuron.
An embryonic cell that develops into a nerve cell or neuron.[accessedResource: CL:0000337][accessDate: 05-04-2011]
neuroblast[accessedResource: CL:0000031][accessDate: 05-04-2011]
A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation.
A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation.[accessedResource: CL:0000352][accessDate: 05-04-2011]
Diploid cell produced by the fusion of sperm cell nucleus and egg cell.
Diploid cell produced by the fusion of sperm cell nucleus and egg cell.[accessedResource: CL:0000365][accessDate: 05-04-2011]
The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell.
Zygote:1-cell[accessedResource: ZFS:0000001][accessDate: 05-04-2011]
The cell protoplasm after removal of the cell wall.
The cell protoplasm after removal of the cell wall.[accessedResource: CL:0000371][accessDate: 05-04-2011]
prohemocyte (sensu Nematoda and Protostomia)
A blood cell especially of an invertebrate animal.
A blood cell especially of an invertebrate animal.[accessedResource: BTO:0000571][accessDate: 05-04-2011]
hemocyte (sensu Nematoda and Protostomia)
hemocyte (sensu Nematoda and Protostomia)[accessedResource: CL:0000387][accessDate: 05-04-2011]
Portion of connective tissue[accessedResource: FMAID:9640][accessDate: 05-04-2011]
The tissue which binds together and is the support of the various structures of the body. It is made up of fibroblasts, fibroglia, collagen fibrils, and elastic fibrils. It is derived from the mesoderm and in a broad sense includes the collagenous, elastic, mucous, reticular, osseous, and cartilaginous tissue. Some also include the blood in this group of tissues. Connective tissue is classified according to concentration of fibers as loose (areolar) and dense, the latter having more abundant fibers than the former.
The tissue which binds together and is the support of the various structures of the body. It is made up of fibroblasts, fibroglia, collagen fibrils, and elastic fibrils. It is derived from the mesoderm and in a broad sense includes the collagenous, elastic, mucous, reticular, osseous, and cartilaginous tissue. Some also include the blood in this group of tissues. Connective tissue is classified according to concentration of fibers as loose (areolar) and dense, the latter having more abundant fibers than the former.[accessedResource: BTO:0000421][accessDate: 05-04-2011]
Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue.
muscle attachment cell[accessedResource: CL:0000388][accessDate: 05-04-2011]
tendon cell[accessedResource: CL:0000388][accessDate: 05-04-2011]
blood cell (sensu Nematoda and Protostomia)
A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982).
A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982).[accessedResource: FBbt:00001690][accessDate: 05-04-2011]
An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone.
An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone.[accessedResource: CL:0000446][accessDate: 05-04-2011]
Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone.
Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone.[accessedResource: BTO:0000997][accessDate: 05-04-2011]
Parathyroid chief cell[accessedResource: CL:0000446][accessDate: 05-04-2011]
Parathyroid gland chief cell[accessedResource: CL:0000446][accessDate: 05-04-2011]
Principal cell of parathyroid gland[accessedResource: CL:0000446][accessDate: 05-04-2011]
chief cell of parathyroid gland[accessedResource: CL:0000446][accessDate: 05-04-2011]
chief cell[accessedResource: TAO:0009207][accessDate: 05-04-2011]
parathyroid gland[accessedResource: BTO:0000997][accessDate: 05-04-2011]
parathyroid hormone secreting cell[accessedResource: CL:0000446][accessDate: 05-04-2011]
A cell from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals. Brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation.
A cell from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals. Brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation.[accessedResource: CL:0000449][accessDate: 05-04-2011]
Brown adipocyte[accessedResource: CL:0000449][accessDate: 05-04-2011]
Brown adipose cell[accessedResource: CL:0000449][accessDate: 05-04-2011]
A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation.
A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation.[accessedResource: CL:0000451][accessDate: 05-04-2011]
A special type of cell that is a key regulator of the immune system, acting as a professional antigen-presenting cell, APC, capable of activating naive T cells and stimulating the growth and differentiation of B cells. Dendritic cells are found, for example, in the lymph nodes and spleen. As an APC, a dendritic cell can retain antigen for long periods on its surface, present the antigen to a T or B cell and so influence their behavior.
A special type of cell that is a key regulator of the immune system, acting as a professional antigen-presenting cell, APC, capable of activating naive T cells and stimulating the growth and differentiation of B cells. Dendritic cells are found, for example, in the lymph nodes and spleen. As an APC, a dendritic cell can retain antigen for long periods on its surface, present the antigen to a T or B cell and so influence their behavior.[accessedResource: BTO:0002042][accessDate: 05-04-2011]
Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum.
Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum.[accessedResource: CL:0000432][accessDate: 05-04-2011]
reticular cell[accessedResource: CL:0000432][accessDate: 05-04-2011]
reticulum cell[accessedResource: CL:0000432][accessDate: 05-04-2011]
A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere.
A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere.[accessedResource: CL:0000499][accessDate: 05-04-2011]
A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors.
A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors.[accessedResource: CL:0000501][accessDate: 05-04-2011]
granulosa cell of ovary[accessedResource: CL:0000501][accessDate: 05-04-2011]
A precursor cell destined to differentiate into smooth muscle myocytes.
A precursor cell destined to differentiate into smooth muscle myocytes.[accessedResource: CL:0000514][accessDate: 05-04-2011]
A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy.
A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy.[accessedResource: CL:0000525][accessDate: 05-04-2011]
plasmidotrophoblast[accessedResource: CL:0000525][accessDate: 05-04-2011]
syncytial trophoblast[accessedResource: CL:0000525][accessDate: 05-04-2011]
syntrophoblast[accessedResource: CL:0000525][accessDate: 05-04-2011]
A grayish or reddish granular cell with specialized processes that is the fundamental functional unit of nervous tissue.
A grayish or reddish granular cell with specialized processes that is the fundamental functional unit of nervous tissue.[accessedResource: BTO:0000938][accessDate: 05-04-2011]
The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.[accessedResource: CL:0000540][accessDate: 05-04-2011]
The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
nerve cell[accessedResource: CL:0000540][accessDate: 05-04-2011]
neuron cell[accessedResource: NIFSTD:sao1417703748][accessDate: 05-04-2011]
A cell of the B cell, T cell, or natural killer cell lineage.
A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin.
A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin.[accessedResource: CL:0000542][accessDate: 05-04-2011]
Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood.
Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood.[accessedResource: BTO:0000775][accessDate: 05-04-2011]
An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells.
An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.
An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.[accessedResource: CL:0000547][accessDate: 05-04-2011]
rubriblast[accessedResource: CL:0000547][accessDate: 05-04-2011]
A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared.
A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers.
A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers.[accessedResource: CL:0000549][accessDate: 05-04-2011]
basophilic normoblast[accessedResource: CL:0000549][accessDate: 05-04-2011]
early erythroblast[accessedResource: CL:0000549][accessDate: 05-04-2011]
early normoblast[accessedResource: CL:0000549][accessDate: 05-04-2011]
prorubricyte[accessedResource: CL:0000549][accessDate: 05-04-2011]
The earliest cytologically identifiable precursor in the thrombocytic series.
The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative).
The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative).[accessedResource: CL:0000553][accessDate: 05-04-2011]
megacaryoblast[accessedResource: CL:0000553][accessDate: 05-04-2011]
megacaryocyte progenitor cell[accessedResource: CL:0000553][accessDate: 05-04-2011]
megakaryoblast[accessedResource: CL:0000553][accessDate: 05-04-2011]
A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm.
A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm.[accessedResource: CL:0000556][accessDate: 05-04-2011]
A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets.
A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets.[accessedResource: BTO:0000843][accessDate: 05-04-2011]
megacaryocyte[accessedResource: CL:0000556][accessDate: 05-04-2011]
megalocaryocyte[accessedResource: CL:0000556][accessDate: 05-04-2011]
megalokaryocyte[accessedResource: CL:0000556][accessDate: 05-04-2011]
A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata-1, Gata2 but do express C/EBPa, and Pu.1.
A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata-1, Gata2 but do express C/EBPa, and Pu.1.[accessedResource: CL:0000557][accessDate: 05-04-2011]
A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages.
CFU-GM[accessedResource: CL:0000557][accessDate: 05-04-2011]
GMP[accessedResource: CL:0000557][accessDate: 05-04-2011]
colony forming unit granulocyte macrophage
colony forming unit granulocyte macrophage[accessedResource: CL:0000557][accessDate: 05-04-2011]
granulocyte monocyte progenitor cell[accessedResource: CL:0000557][accessDate: 05-04-2011]
An immature erythrocyte showing a basophilic reticulum under vital staining.
An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds.
An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds.[accessedResource: CL:0000558][accessDate: 05-04-2011]
A mononuclear phagocytic leukocyte, 13 to 25 mm in diameter, with an ovoid or kidney-shaped nucleus, containing lacy, linear chromatin and abundant gray-blue cytoplasm filled with fine reddish and azurophilic granules. Formed in the bone marrow from promonocytes, monocytes are transported to tissues such as the lung and liver, where they develop into macrophages.
A mononuclear phagocytic leukocyte, 13 to 25 mm in diameter, with an ovoid or kidney-shaped nucleus, containing lacy, linear chromatin and abundant gray-blue cytoplasm filled with fine reddish and azurophilic granules. Formed in the bone marrow from promonocytes, monocytes are transported to tissues such as the lung and liver, where they develop into macrophages.[accessedResource: BTO:0000876][accessDate: 05-04-2011]
Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.[accessedResource: CL:0000576][accessDate: 05-04-2011]
A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster.
A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster.[accessedResource: FBbt:00004905][accessDate: 05-04-2011]
The reproductive cell in multicellular organisms.
The reproductive cell in multicellular organisms.[accessedResource: CL:0000586][accessDate: 05-04-2011]
A cell found in seeded plants.[accessedResource: CL:0000610][accessDate: 05-04-2011]
A neuron that uses GABA as a vesicular neurotransmitter
A neuron that uses GABA as a vesicular neurotransmitter[accessedResource: CL:0000617][accessDate: 05-04-2011]
GABA-ergic neuron[accessedResource: CL:0000617][accessDate: 05-04-2011]
A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus).
A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus).[accessedResource: CL:0000622][accessDate: 05-04-2011]
acinic cell[accessedResource: CL:0000622][accessDate: 05-04-2011]
acinous cell[accessedResource: CL:0000622][accessDate: 05-04-2011]
A large granular lymphocyte capable of killing a tumor or microbial cell without prior exposure to the target cell and without having it presented with or marked by a histocompatibility antigen.
A large granular lymphocyte capable of killing a tumor or microbial cell without prior exposure to the target cell and without having it presented with or marked by a histocompatibility antigen.[accessedResource: BTO:0000914][accessDate: 05-04-2011]
A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells.
A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells.[accessedResource: CL:0000623][accessDate: 05-04-2011]
NK cell[accessedResource: CL:0000623][accessDate: 05-04-2011]
Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament.
Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament.[accessedResource: CL:0000646][accessDate: 05-04-2011]
*Slender, contractile, mesenchymal-like cell found in close association with capillary walls. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. (From OBO Cell Type Ontology). *A flattened, or elongated, stellate-shaped solitary cell with multiple cytoplasmic processes encircling the capillary endothelium and contacting a large abluminal vessel area. It may be equivalent to the vascular smooth muscle cell, although this identify has not been conclusively determined yet (Armulik et al., Circ Res 97: 512, 2005).
*Slender, contractile, mesenchymal-like cell found in close association with capillary walls. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. (From OBO Cell Type Ontology). *A flattened, or elongated, stellate-shaped solitary cell with multiple cytoplasmic processes encircling the capillary endothelium and contacting a large abluminal vessel area. It may be equivalent to the vascular smooth muscle cell, although this identify has not been conclusively determined yet (Armulik et al., Circ Res 97: 512, 2005).[accessedResource: NIFSTD:nifext_171][accessDate: 05-04-2011]
A slender, contractile, mesenchymal-like cell found in close association with capillary walls. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. (From Stedman, 26th ed).
An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells.
An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells.[accessedResource: CL:0000184][accessDate: 05-04-2011]
Cell of Rouget[accessedResource: CL:0000184][accessDate: 05-04-2011]
Mural Cell[accessedResource: NIFSTD:nifext_171][accessDate: 05-04-2011]
Pericyte of Rouget[accessedResource: CL:0000669][accessDate: 05-04-2011]
Rouget Cell[accessedResource: NIFSTD:nifext_171][accessDate: 05-04-2011]
adventitial cell[accessedResource: CL:0000669][accessDate: 05-04-2011]
adventitial reticular cell[accessedResource: CL:0000669][accessDate: 05-04-2011]
pericyte cell[accessedResource: CL:0000184][accessDate: 05-04-2011]
A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells.
A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells.[accessedResource: CL:0000670][accessDate: 05-04-2011]
Gonocyte[accessedResource: CL:0000670][accessDate: 05-04-2011]
Primitive germ cell[accessedResource: CL:0000670][accessDate: 05-04-2011]
A nucleated cell of the myeloid or lymphoid lineages, found in blood or other tissue.
An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue.
An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue.[accessedResource: CL:0000738][accessDate: 05-04-2011]
Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils.
Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils.[accessedResource: BTO:0000751][accessDate: 05-04-2011]
immune cell[accessedResource: CL:0000738][accessDate: 05-04-2011]
leucocyte[accessedResource: CL:0000738][accessDate: 05-04-2011]
white blood cell[accessedResource: CL:0000738][accessDate: 05-04-2011]
A heart muscle cell.[accessedResource: BTO:0001539][accessDate: 05-04-2011]
A myocyte located in the heart. The contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei.
A myocyte located in the heart. The contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei.[accessedResource: CL:0000746][accessDate: 05-04-2011]
A striated muscle cell found in the heart. They develop from cardiac myoblasts.
A striated muscle cell found in the heart. They develop from cardiac myoblasts.[accessedResource: CL:0000193][accessDate: 05-04-2011]
Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH).
Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH).[accessedResource: NIFSTD:sao658938043][accessDate: 05-04-2011]
cardiac muscle cell (sensu Arthopoda)[accessedResource: CL:0000193][accessDate: 05-04-2011]
cardiac muscle cell[accessedResource: CL:0000746][accessDate: 05-04-2011]
cardiocyte[accessedResource: CL:0000193][accessDate: 05-04-2011]
cardiomyocyte[accessedResource: CL:0000746][accessDate: 05-04-2011]
heart muscle cell[accessedResource: CL:0000193][accessDate: 05-04-2011]
A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.
A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.[accessedResource: CL:0000763][accessDate: 05-04-2011]
Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis.
Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis.[accessedResource: BTO:0001441][accessDate: 05-04-2011]
marrow cell[accessedResource: BTO:0001441][accessDate: 05-04-2011]
A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers.
A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers.[accessedResource: CL:0000765][accessDate: 05-04-2011]
A nucleated precursor of an erythrocyte.
normoblast[accessedResource: CL:0000765][accessDate: 05-04-2011]
Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes.
Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin.
A fully differentiated basophil, a granular leukocyte with an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation.
A fully differentiated basophil, a granular leukocyte with an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation.[accessedResource: CL:0000043][accessDate: 05-04-2011]
A fully differentiated basophil, a granular leukocyte with an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation.
Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.
Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.[accessedResource: CL:0000775][accessDate: 05-04-2011]
mature basophil leucocyte[accessedResource: CL:0000043][accessDate: 05-04-2011]
mature basophil leukocyte[accessedResource: CL:0000043][accessDate: 05-04-2011]
mature basophil[accessedResource: CL:0000043][accessDate: 05-04-2011]
neutrocyte[accessedResource: CL:0000775][accessDate: 05-04-2011]
neutrophil leucocyte[accessedResource: CL:0000775][accessDate: 05-04-2011]
neutrophil leukocyte[accessedResource: CL:0000775][accessDate: 05-04-2011]
neutrophilic leucocyte[accessedResource: CL:0000775][accessDate: 05-04-2011]
neutrophilic leukocyte[accessedResource: CL:0000775][accessDate: 05-04-2011]
A tissue-resident macrophage of the renal glomerular mesangium involved in the disposal and degradation of filtration residues, presentation of antigen to T cells and in tissue remodeling.
A tissue-resident macrophage of the renal glomerular mesangium involved in the disposal and degradation of filtration residues, presentation of antigen to T cells and in tissue remodeling.[accessedResource: CL:0000777][accessDate: 05-04-2011]
A tissue-resident macrophage of the renal glomerular mesangium.
A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection.
A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection.[accessedResource: CL:0000784][accessDate: 05-04-2011]
DC2[accessedResource: CL:0000784][accessDate: 05-04-2011]
IPC[accessedResource: CL:0000784][accessDate: 05-04-2011]
T-associated plasma cell[accessedResource: CL:0000784][accessDate: 05-04-2011]
interferon-producing cell[accessedResource: CL:0000784][accessDate: 05-04-2011]
lymphoid dendritic cell[accessedResource: CL:0000784][accessDate: 05-04-2011]
pDC[accessedResource: CL:0000784][accessDate: 05-04-2011]
plasmacytoid T cell[accessedResource: CL:0000784][accessDate: 05-04-2011]
plasmacytoid monocyte[accessedResource: CL:0000784][accessDate: 05-04-2011]
A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen.
A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen.[accessedResource: CL:0000785][accessDate: 05-04-2011]
mature B lymphocyte[accessedResource: CL:0000785][accessDate: 05-04-2011]
mature B-cell[accessedResource: CL:0000785][accessDate: 05-04-2011]
mature B-lymphocyte[accessedResource: CL:0000785][accessDate: 05-04-2011]
A terminally differentiated cell of the B lymphocyte lineage that produces antibodies; plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern.
A terminally differentiated cell of the B lymphocyte lineage that produces antibodies; plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern.[accessedResource: BTO:0000392][accessDate: 05-04-2011]
A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin.
A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin.[accessedResource: CL:0000786][accessDate: 05-04-2011]
plasmacyte[accessedResource: CL:0000786][accessDate: 05-04-2011]
CD4-positive, CD25-positive, alpha-beta regulatory T cell
CD4-positive, alpha-beta intraepithelial T cell
CD8-positive, alpha-beta cytotoxic T cell
CD8-positive, alpha-beta regulatory T cell
CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CD4-negative CD8-negative gamma-delta intraepithelial T cell
A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors.
A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors.[accessedResource: CL:0000809][accessDate: 05-04-2011]
DP cell[accessedResource: CL:0000809][accessDate: 05-04-2011]
double-positive, alpha-beta immature T lymphocyte
double-positive, alpha-beta immature T lymphocyte[accessedResource: CL:0000809][accessDate: 05-04-2011]
double-positive, alpha-beta thymocyte[accessedResource: CL:0000809][accessDate: 05-04-2011]
A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time.
A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time.[accessedResource: BTO:0003435][accessDate: 05-04-2011]
A distinctly differentiated long-lived T cell that has the phenotype CD45RO-positive and CD127-positive.
A distinctly differentiated long-lived T cell that has the phenotype CD45RO-positive and CD127-positive.[accessedResource: CL:0000813][accessDate: 05-04-2011]
memory T cell[accessedResource: CL:0000813][accessDate: 05-04-2011]
memory T lymphocyte[accessedResource: CL:0000813][accessDate: 05-04-2011]
memory T-lymphocyte[accessedResource: CL:0000813][accessDate: 05-04-2011]
A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release.
A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release.[accessedResource: CL:0000815][accessDate: 05-04-2011]
regulatory T cell[accessedResource: CL:0000815][accessDate: 05-04-2011]
regulatory T lymphocyte[accessedResource: CL:0000815][accessDate: 05-04-2011]
regulatory T-lymphocyte[accessedResource: CL:0000815][accessDate: 05-04-2011]
An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation.
An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation.[accessedResource: CL:0000816][accessDate: 05-04-2011]
immature B lymphocyte[accessedResource: CL:0000816][accessDate: 05-04-2011]
immature B-cell[accessedResource: CL:0000816][accessDate: 05-04-2011]
immature B-lymphocyte[accessedResource: CL:0000816][accessDate: 05-04-2011]
newly formed B Cell[accessedResource: CL:0000816][accessDate: 05-04-2011]
A precursor B cell is a B cell with the phenotype CD10-positive (P08473/NEP_HUMAN; PIRSF001194).
A precursor B cell is a B cell with the phenotype CD10-positive.
A precursor B cell is a B cell with the phenotype CD10-positive.[accessedResource: CL:0000817][accessDate: 05-04-2011]
precursor B cell[accessedResource: CL:0000817][accessDate: 05-04-2011]
A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative.
A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative.[accessedResource: CL:0000822][accessDate: 05-04-2011]
B-2 B lymphocyte[accessedResource: CL:0000822][accessDate: 05-04-2011]
B-2 B-cell[accessedResource: CL:0000822][accessDate: 05-04-2011]
B-2 B-lymphocyte[accessedResource: CL:0000822][accessDate: 05-04-2011]
hematopoietic multipotent progenitor cell
A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans.
A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans.[accessedResource: CL:0000837][accessDate: 05-04-2011]
A progenitor cell of any hematopoietic lineage, potentially multipotent.
MPP[accessedResource: CL:0000837][accessDate: 05-04-2011]
hematopoietic multipotent progenitor cell[accessedResource: CL:0000837][accessDate: 05-04-2011]
hemopoietic progenitor cell[accessedResource: CL:0000837][accessDate: 05-04-2011]
lymphoid lineage restricted progenitor cell
myeloid lineage restricted progenitor cell
A progenitor cell of any myeloid lineage, potentially multipotent.
A progenitor cell restricted to the myeloid lineage.
A progenitor cell restricted to the myeloid lineage.[accessedResource: CL:0000839][accessDate: 05-04-2011]
myeloid lineage restricted progenitor cell[accessedResource: CL:0000839][accessDate: 05-04-2011]
A cell having only one nucleus, especially: MONOCYTE.
A cell having only one nucleus, especially: MONOCYTE.[accessedResource: BTO:0000878][accessDate: 05-04-2011]
A leukocyte with a single non-segmented nucleus in the mature form.
A leukocyte with a single non-segmented nucleus in the mature form.[accessedResource: CL:0000842][accessDate: 05-04-2011]
gastrointestinal tract (lamina propria) macrophage
mucosa-associated lymphoid tissue macrophage
gut-associated lymphoid tissue macrophage
nasal and broncial associated lymphoid tissue macrophage
An immature T cell located in the thymus.
An immature T cell located in the thymus.[accessedResource: CL:0000893][accessDate: 05-04-2011]
thymic lymphocyte[accessedResource: CL:0000893][accessDate: 05-04-2011]
naive thymus-derived CD4-positive, alpha-beta T cell
activated CD4-positive, alpha-beta T cell
naive thymus-derived CD8-positive, alpha-beta T cell
central memory CD4-positive, alpha-beta T cell
effector memory CD4-positive, alpha-beta T cell
activated CD8-positive, alpha-beta T cell
central memory CD8 positive, alpha-beta T cell
CD8-positive, alpha-beta cytokine secreting effector T cell
effector memory CD8-positive, alpha-beta T cell
CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CD8-positive, CD25-positive, alpha-beta regulatory T cell
CD8-positive, CD28-negative, alpha-beta regulatory T cell
CD4-negative, CD8-negative type I NK T cell
CD4-positive type I NK T cell secreting interferon-gamma
CD4-positive type I NK T cell secreting interleukin-4
activated CD4-negative, CD8-negative type I NK T cell
CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
type II NK T cell secreting interferon-gamma
type II NK T cell secreting interleukin-4
CD4-positive, alpha-beta cytotoxic T cell
CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CD56-bright cytokine secreting natural killer cell
A blood cell.[accessedResource: BTO:0000574][accessDate: 05-04-2011]
A cell of a hematopoietic lineage.[accessedResource: CL:0000988][accessDate: 05-04-2011]
blood cell[accessedResource: CL:0000081][accessDate: 05-04-2011]
haematopoietic cell[accessedResource: CL:0000988][accessDate: 05-04-2011]
haemopoietic cell[accessedResource: CL:0000988][accessDate: 05-04-2011]
hemopoietic cell[accessedResource: CL:0000988][accessDate: 05-04-2011]
CD11c-negative plasmacytoid dendritic cell
immature CD11c-low plasmacytoid dendritic cell
mature CD11c-low plasmacytoid dendritic cell
immature CD11c-negative plasmacytoid dendritic cell
CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
mature CD11c-negative plasmacytoid dendritic cell
immature CD8_alpha-negative CD11b-positive dendritic cell
CD8_alpha-negative CD11b-negative dendritic cell
CD4-positive CD11b-positive dendritic cell
CD8_alpha-positive CD11b-negative dendritic cell
immature CD8_alpha-negative CD11b-negative dendritic cell
mature CD8_alpha-negative CD11b-negative dendritic cell
mature CD8_alpha-negative CD11b-positive dendritic cell
immature CD8_alpha-positive CD11b-negative dendritic cell
mature CD8_alpha-positive CD11b-negative dendritic cell
Kit and Sca1-positive hematopoietic stem cell
CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
CD115-positive monocyte OR common dendritic progenitor
CD34-positive, CD38-positive common lymphoid progenitor
Kit-positive, CD34-positive common myeloid progenitor
CD34-positive, CD38-negative hematopoietic stem cell
Kit-positive, Sca1-positive common lymphoid progenitor
CD34-positive, CD38-positive common myeloid progenitor
CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
CD34-positive, CD38-positive granulocyte monocyte progenitor
Kit-positive granulocyte monocyte progenitor
CD34-positive, GlyA-negative erythroid progenitor cell
CD34-negative, GlyA-negative proerythroblast
CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
Kit-low, CD34-positive eosinophil progenitor cell
CD34-positive, CD38-positive eosinophil progenitor cell
Kit-positive macrophage dendritic cell progenitor
Kit-negative, Ly-76 high basophilic erythroblast
Kit-negative, Ly-76 high polychromatophilic erythroblast
CD71-low, GlyA-positive polychromatic erythroblast
Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CD71-negative, GlyA-positive orthochromatic erythroblast
CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
Kit-positive megakaryocyte progenitor cell
CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CD9-positive, CD41-positive megakaryocyte cell
Fc-epsilon RIalpha-low mast cell progenitor
Fc-epsilon RIalpha-high basophil progenitor cell
hematopoietic lineage restricted progenitor cell
hematopoietic oligopotent progenitor cell
Slamf1-negative multipotent progenitor cell
Slamf1-positive multipotent progenitor cell
CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CD34-positive, CD38-negative multipotent progenitor cell
Kit-positive, integrin beta7-high basophil mast progenitor cell
CD22-positive, CD38-low small pre-B cell
CD14-positive, CD16-negative classical monocyte
CD8alpha-positive thymic conventional dendritic cell
IgG-positive double negative memory B cell
IgG-negative double negative memory B cell
IgD-positive CD38-positive IgG memory B cell
IgD-negative CD38-positive IgG memory B cell
B220-positive CD38-positive naive B cell
B220-positive CD38-negative unswitched memory B cell
B220-low CD38-negative unswitched memory B cell
B220-positive CD38-positive unswitched memory B cell
B220-low CD38-positive unswitched memory B cell
IgG-negative class switched memory B cell
CD38-negative IgG-negative class switched memory B cell
CD38-positive IgG-negative class switched memory B cell
CD24-positive CD38-negative IgG-negative class switched memory B cell
CD24-negative CD38-negative IgG-negative class switched memory B cell
B220-positive CD38-positive IgG-negative class switched memory B cell
B220-low CD38-positive IgG-negative class switched memory B cell
CD25-positive, CD27-positive immature gamma-delta T cell
A cell derived from a promyelocyte. It differentiates into a metamyelocyte. It has a diameter of 10-18 micrometer, and an oval or round nucleus with finely granulated chromatin.
A cell derived from a promyelocyte. It differentiates into a metamyelocyte. It has a diameter of 10-18 micrometer, and an oval or round nucleus with finely granulated chromatin.[accessedResource: NCIt:C13115][accessDate: 05-04-2011]
A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses.
A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses.[accessedResource: CL:0002193][accessDate: 05-04-2011]
immature dendritic epithelial T cell precursor
A cell of the embryo.[accessedResource: CL:0002321][accessDate: 05-04-2011]
Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals.
Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals.[accessedResource: BTO:0001086][accessDate: 05-04-2011]
A precursor to an adipocyte.[accessedResource: BTO:0001107][accessDate: 05-04-2011]
An undifferentiated fibroblast that can be stimulated to form a fat cell.
An undifferentiated fibroblast that can be stimulated to form a fat cell.[accessedResource: CL:0002334][accessDate: 05-04-2011]
CD56-positive, CD161-positive immature natural killer cell
CD56-negative, CD161-positive immature natural killer cell
CD27-low, CD11b-low immature natural killer cell
Dx5-negative, NK1.1-positive immature natural killer cell
CD27-high, CD11b-high natural killer cell
CD27-low, CD11b-high natural killer cell
CD27-high, CD11b-low natural killer cell
A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1.[accessedResource: CL:0002351][accessDate: 05-04-2011]
A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1.
pancreatic endocrine progenitor[accessedResource: CL:0002351][accessDate: 05-04-2011]
pancreatic islet progenitor cell[accessedResource: CL:0002351][accessDate: 05-04-2011]
fetal liver hematopoietic progenitor cell
A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative.
A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative.[accessedResource: CL:0002353][accessDate: 05-04-2011]
similar to CL:0000837, but in fetal liver
A keratocyte is a specialized fibroblast residing in the stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate.
A keratocyte is a specialized fibroblast residing in the stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate.[accessedResource: CL:0002363][accessDate: 05-04-2011]
corneal fibroblast[accessedResource: CL:0002363][accessDate: 05-04-2011]
corneal keratocyte[accessedResource: CL:0002363][accessDate: 05-04-2011]
An epithelial cell located in the inner portion of the thymus where the T lymphocytes become mature and are released into the circulation.
An epithelial cell located in the inner portion of the thymus where the T lymphocytes become mature and are released into the circulation.[accessedResource: NCIt:C45702][accessDate: 05-04-2011]
An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output.
An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output.[accessedResource: CL:0002365][accessDate: 05-04-2011]
Thymic Medullary Epithelial Cell[accessedResource: NCIt:C45702][accessDate: 05-04-2011]
mTEC[accessedResource: CL:0002365][accessDate: 05-04-2011]
An endo-epithelial cell of the respiratory tract.
An endo-epithelial cell of the respiratory tract.[accessedResource: CL:0002368][accessDate: 05-04-2011]
Epithelium of the respiratory portion of the bronchial tree.
Epithelium of the respiratory portion of the bronchial tree.[accessedResource: BTO:0000419][accessDate: 05-04-2011]
respiratory epithelial cell[accessedResource: CL:0002368][accessDate: 05-04-2011]
respiratory epithelium[accessedResource: BTO:0000419][accessDate: 05-04-2011]
A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell).
A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell).[accessedResource: CL:0002371][accessDate: 05-04-2011]
One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells.
One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells.[accessedResource: BTO:0001268][accessDate: 05-04-2011]
Somatic Cells[accessedResource: NCIt:C12949][accessDate: 05-04-2011]
immature Vgamma2-positive fetal thymocyte
mature dendritic epithelial T cell precursor
Vgamma1.1-positive, Vdelta6.3-negative thymocyte
Vgamma1.1-positive, Vdelta6.3-positive thymocyte
mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CD11b-positive, CD27-positive natural killer cell
CD4-intermediate, CD8-positive double-positive thymocyte
CD4-positive, CD8-intermediate double-positive thymocyte
CD24-positive, CD4 single-positive thymocyte
CD69-positive, CD4-positive single-positive thymocyte
CD24-positive, CD8 single-positive thymocyte
CD69-positive, CD8-positive single-positive thymocyte
CD94-negative, Ly49CI-negative natural killer cell
CD94-positive Ly49CI-positive natural killer cell
Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CD8_alpha-negative plasmactyoid dendritic cell
CD8_alpha-positive plasmactyoid dendritic cell
langerin-negative dermal dendritic cell
CD8alpha-negative thymic conventional dendritic cell
lymphoid MHC-II-negative classical monocyte
lymphoid MHC-II-negative non-classical monocyte
langerin-positive lymph node dendritic cell
langerin-negative, CD103-negative lymph node dendritic cell
CD103-positive, langerin-positive lymph node dendritic cell
CD103-negative, langerin-positive lymph node dendritic cell
CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
immature CD14-positive dermal dendritic cell
mature CD14-positive dermal dendritic cell
immature CD1a-positive dermal dendritic cell
mature CD1a-positive dermal dendritic cell
immature CD16-positive myeloid dendritic cell
mature CD16-positive myeloid dendritic cell
Mus (commonly mice) is a small mammal belonging to the order of rodents.
Rat[accessedResource: NIFSTD:birnlex_160][accessDate: 05-04-2011]
Eucaryotae[accessedResource: NIFSTD:birnlex_399][accessDate: 05-04-2011]
Eukarya[accessedResource: NIFSTD:birnlex_399][accessDate: 05-04-2011]
eucaryotes[accessedResource: NIFSTD:birnlex_399][accessDate: 05-04-2011]
Viridiplantae are a clade comprising the green algae and land plants.
A property of a single physical entity describing the entity's size or shape or structure.
Modified from PATO original by James Malone
A physical quality of the amount of matter in a material.
Cardiac Death[accessedResource: MSH:D003643][accessDate: 05-04-2011]
Death, Cardiac[accessedResource: MSH:D003643][accessDate: 05-04-2011]
Death[accessedResource: MSH:D003643][accessDate: 05-04-2011]
Determination of Death[accessedResource: MSH:D003643][accessDate: 05-04-2011]
Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions.
Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions.[accessedResource: MSH:D003643][accessDate: 05-04-2011]
Near-Death Experience[accessedResource: MSH:D003643][accessDate: 05-04-2011]
An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change.
Concept naming convention is lower case natural naming with spaces, when necessary captials should be used, for example disease factor, HIV, breast carcinoma, Ewing's sarcoma
ExperimentalFactor[accessedResource: MO_10][accessDate: 05-04-2011]
CS57511 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311932.
CS57512 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311933
CS57515 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311936
CS57520 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311941
CS57521 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522
CS57537 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311958
CS57541 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158565&type=germplasm
CS57543 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158567&type=germplasm
CS57544 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158568&type=germplasm
CS57548 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158572&type=germplasm
CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm
CS57551 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158575&type=germplasm
CS57556 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158580&type=germplasm
CS57560 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm
CS57563 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311984
CS57569 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158593&type=germplasm
CS57570 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158594&type=germplasm
CS57572 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158596&type=germplasm
CS57580 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158604&type=germplasm
CS57581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158605&type=germplasm
CS57583 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158607&type=germplasm
CS57586 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158610&type=germplasm
CS57587 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158611&type=germplasm
CS57591 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm
CS57595 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158619&type=germplasm
CS57596 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158620&type=germplasm
CS57598 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158622&type=germplasm
CS57601 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158625&type=germplasm
CS57603 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158627&type=germplasm
CS57606 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158630&type=germplasm
CS57610 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158634&type=germplasm
CS57615 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158639&type=germplasm
CS57616 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158640&type=germplasm
CS57618 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158642&type=germplasm
CS57619 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158643&type=germplasm
CS57620 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158644&type=germplasm
CS57621 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158645&type=germplasm
CS57622 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158646&type=germplasm
CS57624 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158648&type=germplasm
CS57625 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158649&type=germplasm
CS57626 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158650&type=germplasm
CS57627 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158651&type=germplasm
CS57628 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158652&type=germplasm
CS57629 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158653&type=germplasm
CS57630 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158654&type=germplasm
CS57631 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158655&type=germplasm
CS57637 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158661&type=germplasm
CS57641 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158665&type=germplasm
CS57644 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm
CS57646 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm
CS57648 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158672&type=germplasm
CS57655 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm
CS57658 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158682&type=germplasm
CS57660 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158684&type=germplasm
CS57663 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm
CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158688&type=germplasm
CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158690&type=germplasm
CS57671 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm
CS57677 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm
CS57691 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm
CS57692 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158716&type=germplasm
CS57699 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158723&type=germplasm
CS57701 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158725&type=germplasm
CS57704 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158728&type=germplasm
CS57705 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm
CS57706 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158730&type=germplasm
CS57709 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158733&type=germplasm
CS57710 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158734&type=germplasm
CS57714 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158738&type=germplasm
CS57715 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158739&type=germplasm
CS57716 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158740&type=germplasm
CS57717 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158741&type=germplasm
CS57719 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158743&type=germplasm
CS57722 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm
CS57727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158751&type=germplasm
CS57731 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm
CS57732 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158756&type=germplasm
CS57733 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158757&type=germplasm
CS57735 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm
CS57737 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm
CS57740 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm
CS57742 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm
CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm
CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm
CS57751 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158775&type=germplasm
CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm
CS57753 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158777&type=germplasm
CS57758 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158782&type=germplasm
CS57769 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158793&type=germplasm
now using NCI taxon URI: http://purl.org/obo/owl/NCBITaxon#NCBITaxon_3702
obsolete_B-precursor acute lymphoblastic leukemia
Duplicate with B-cell acute lymphoblastic leukemia (EFO_0000094) use this instead
A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia). When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003
A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia). When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003[accessedResource: NCIt:C8936][accessDate: 05-04-2011]
B Lymphoblastic Leukemia/Lymphoma[accessedResource: NCIt:C8936][accessDate: 05-04-2011]
B-precursor acute lymphoblastic leukemia
Precursor B Lymphoblastic Leukemia/Lymphoma
Precursor B Lymphoblastic Leukemia/Lymphoma[accessedResource: NCIt:C8936][accessDate: 05-04-2011]
Precursor B-Lymphoblastic Lymphoma/Leukemia
Precursor B-Lymphoblastic Lymphoma/Leukemia[accessedResource: NCIt:C8936][accessDate: 05-04-2011]
precursor B lymphoblastic lymphoma/leukemia
precursor B lymphoblastic lymphoma/leukemia[accessedResource: DOID:7061][accessDate: 05-04-2011]
A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.
A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B Cell Chronic Lymphocytic Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B Cell Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B Lymphocytic Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B-Cell Chronic Lymphocytic Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B-Cell Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B-Cell Leukemias, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B-Lymphocytic Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B-Lymphocytic Leukemias, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
B-cell chronic lymphocytic leukaemia/small lymphocytic lymphoma
B-cell chronic lymphocytic leukaemia/small lymphocytic lymphoma[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma
B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)
B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
CH LYM LEUK WO ACHV RMSN[accessedResource: ICD9:204.10][accessDate: 05-04-2011]
CLL - Chronic lymphocytic leukaemia[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011]
CLL - Chronic lymphocytic leukemia[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011]
CLL Lymphoplasmacytoid Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011]
CLL Lymphoplasmacytoid Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Chronic B-Cell Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Chronic B-Cell Leukemias[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Chronic B-Lymphocytic Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Chronic B-Lymphocytic Leukemias[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Chronic Lymphoblastic Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Chronic Lymphoblastic Leukemias[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Chronic Lymphocytic Leukemias[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Chronic lymphatic leukaemia[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
Chronic lymphatic leukemia[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
Chronic lymphocytic leukaemia, B-cell type
Chronic lymphocytic leukaemia, B-cell type[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
Chronic lymphocytic leukaemia[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
Chronic lymphocytic leukemia, B-cell type
Chronic lymphocytic leukemia, B-cell type[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
Chronic lymphocytic leukemia, morphology (morphologic abnormality)
Chronic lymphocytic leukemia, morphology (morphologic abnormality)[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011]
Chronic lymphoid leukaemia, disease[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011]
Chronic lymphoid leukaemia[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011]
Chronic lymphoid leukemia without mention of having achieved remission
Chronic lymphoid leukemia without mention of having achieved remission[accessedResource: ICD9:204.10][accessDate: 05-04-2011]
Chronic lymphoid leukemia without mention of remission
Chronic lymphoid leukemia without mention of remission[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011]
Chronic lymphoid leukemia, disease (disorder)
Chronic lymphoid leukemia, disease (disorder)[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011]
Chronic lymphoid leukemia, disease[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011]
Chronic lymphoid leukemia[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011]
DIFFUSE WELL DIFFER LYMPHOCYTIC LYMPHOMA
DIFFUSE WELL DIFFER LYMPHOCYTIC LYMPHOMA[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Diffuse Well Differentiated Lymphocytic Lymphoma
Diffuse Well Differentiated Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Diffuse Well-Differentiated Lymphocytic Lymphoma
Diffuse Well-Differentiated Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011]
LYMPHOCYTIC LEUKEMIA CHRONIC B[accessedResource: MSH:D015451][accessDate: 05-04-2011]
LYMPHOCYTIC LYMPHOMA DIFFUSE WELL DIFFER
LYMPHOCYTIC LYMPHOMA DIFFUSE WELL DIFFER[accessedResource: MSH:D015451][accessDate: 05-04-2011]
LYMPHOCYTIC LYMPHOMA WELL DIFFER[accessedResource: MSH:D015451][accessDate: 05-04-2011]
LYMPHOMA LYMPHOCYTIC DIFFUSE WELL DIFFER
LYMPHOMA LYMPHOCYTIC DIFFUSE WELL DIFFER[accessedResource: MSH:D015451][accessDate: 05-04-2011]
LYMPHOMA LYMPHOCYTIC WELL DIFFER[accessedResource: MSH:D015451][accessDate: 05-04-2011]
LYMPHOMA SMALL[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, B Cell, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, B-Cell, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, Chronic B-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, Chronic B-Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, Chronic Lymphoblastic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, Chronic Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, Lymphoblastic, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, Lymphocytic, Chronic, B Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, Lymphocytic, Chronic, B-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemia, Lymphocytic, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemias, Chronic B-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemias, Chronic B-Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemias, Chronic Lymphoblastic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Leukemias, Chronic Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoblastic Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoblastic Leukemias, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Leukemia, Chronic, B Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Leukemia, Chronic, B-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Leukemias, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphoma, Diffuse, Well Differentiated
Lymphocytic Lymphoma, Diffuse, Well Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphoma, Diffuse, Well-Differentiated
Lymphocytic Lymphoma, Diffuse, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphoma, Small[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphoma, Well Differentiated
Lymphocytic Lymphoma, Well Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphoma, Well-Differentiated
Lymphocytic Lymphoma, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphomas, Small[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphomas, Well-Differentiated
Lymphocytic Lymphomas, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphocytic Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoid leukemia, chronic[accessedResource: ICD9:204.1][accessDate: 05-04-2011]
Lymphoma, CLL Lymphoplasmacytoid[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Lymphocytic, Diffuse, Well Differentiated
Lymphoma, Lymphocytic, Diffuse, Well Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Lymphocytic, Diffuse, Well-Differentiated
Lymphoma, Lymphocytic, Diffuse, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Lymphocytic, Well Differentiated
Lymphoma, Lymphocytic, Well Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Lymphocytic, Well-Differentiated
Lymphoma, Lymphocytic, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Lymphoplasmacytoid, CLL[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Small Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Small Lymphocytic, Plasmacytoid
Lymphoma, Small Lymphocytic, Plasmacytoid[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Small Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Small-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoma, Well-Differentiated Lymphocytic
Lymphoma, Well-Differentiated Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphomas, CLL Lymphoplasmacytoid[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphomas, Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphomas, Small Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphomas, Small-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphomas, Well-Differentiated Lymphocytic
Lymphomas, Well-Differentiated Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoplasmacytoid Lymphoma, CLL[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Lymphoplasmacytoid Lymphomas, CLL[accessedResource: MSH:D015451][accessDate: 05-04-2011]
SMALL LYMPHOMA[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Small Cell Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Small Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Small Lymphocytic Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Small-Cell Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Small-Cell Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Well-Differentiated Lymphocytic Lymphoma
Well-Differentiated Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011]
Well-Differentiated Lymphocytic Lymphomas
Well-Differentiated Lymphocytic Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011]
A low-grade malignant lymphoma of follicular pattern in which there is no clear preponderance of one cell type (small or large) over another. The large cells, cleaved or noncleaved, are often 2-3 times larger in diameter than normal lymphocytes.
A low-grade malignant lymphoma of follicular pattern in which there is no clear preponderance of one cell type (small or large) over another. The large cells, cleaved or noncleaved, are often 2-3 times larger in diameter than normal lymphocytes.[accessedResource: MSH:D008224][accessDate: 05-04-2011]
A low-grade malignant lymphoma of predominantly follicular pattern. Follicles are of relatively uniform size and shape and the cells are usually somewhat larger than normal lymphocytes. Nuclei are irregular with prominent indentations and cytoplasm can rarely be identified. Cells exhibiting these characteristics are often called centrocytes.
A low-grade malignant lymphoma of predominantly follicular pattern. Follicles are of relatively uniform size and shape and the cells are usually somewhat larger than normal lymphocytes. Nuclei are irregular with prominent indentations and cytoplasm can rarely be identified. Cells exhibiting these characteristics are often called centrocytes.[accessedResource: MSH:D008224][accessDate: 05-04-2011]
B-Cell Non Hodgkin's Lymphoma[accessedResource: C3457][accessDate: 05-04-2011]
B-Cell Non-Hodgkin Lymphoma[accessedResource: C3457][accessDate: 05-04-2011]
B-Cell Non-Hodgkin's Lymphoma[accessedResource: C3457][accessDate: 05-04-2011]
BRILL SYMMERS DIS[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Brill Symmers Disease[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Brill-Symmers Disease[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Disease, Brill-Symmers[accessedResource: MSH:D008224][accessDate: 05-04-2011]
FOLLIC LARGE LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011]
FOLLIC LYMPHOMA GIANT[accessedResource: MSH:D008224][accessDate: 05-04-2011]
FOLLIC LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011]
FOLLIC MIXED LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Large Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Large-Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Large-Cell Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Lymphoma, Giant[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Lymphoma, Grade 1[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Lymphoma, Grade 2[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Lymphoma, Grade 3[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Lymphomas, Giant[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Mixed Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Mixed-Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Follicular Mixed-Cell Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011]
GIANT FOLLIC LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Giant Follicular Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Giant Follicular Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Histiocytic Lymphoma, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Histiocytic Lymphomas, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LARGE LYMPHOMA FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOCYTIC LYMPHOMA NODULAR POORLY DIFFER
LYMPHOCYTIC LYMPHOMA NODULAR POORLY DIFFER[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA FOLLIC LARGE[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA FOLLIC MIXED LYMPHOCYTIC HISTIOCYTIC
LYMPHOMA FOLLIC MIXED LYMPHOCYTIC HISTIOCYTIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA FOLLIC MIXED SMALL LARGE LYMPHOID
LYMPHOMA FOLLIC MIXED SMALL LARGE LYMPHOID[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA FOLLIC MIXED[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA FOLLIC SMALL LARGE CLEAVED[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA GIANT FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA LARGE FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA LYMPHOCYTIC NODULAR POORLY DIFFER
LYMPHOMA LYMPHOCYTIC NODULAR POORLY DIFFER[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA MIXED FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA NODULAR LARGE FOLLIC CENTER[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA NODULAR MIXED SMALL LARGE[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA SMALL CLEAVED CELL FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA SMALL CLEAVED FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA SMALL FOLLIC CENTER[accessedResource: MSH:D008224][accessDate: 05-04-2011]
LYMPHOMA SMALL LYMPHOID FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Large Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Large Lymphoid Lymphoma, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Large-Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Large-Cell Lymphomas, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphocytic Lymphoma, Nodular, Poorly Differentiated
Lymphocytic Lymphoma, Nodular, Poorly Differentiated[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphocytic Lymphoma, Nodular, Poorly-Differentiated
Lymphocytic Lymphoma, Nodular, Poorly-Differentiated[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular Large Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular Large-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular Mixed-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular, Grade 1[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular, Grade 2[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular, Grade 3[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular, Mixed Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic
Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular, Mixed Small and Large Lymphoid
Lymphoma, Follicular, Mixed Small and Large Lymphoid[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular, Small and Large Cleaved Cell
Lymphoma, Follicular, Small and Large Cleaved Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular, Small and Large Cleaved-Cell
Lymphoma, Follicular, Small and Large Cleaved-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Giant Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Histiocytic, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Large Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Large Lymphoid, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Large-Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Lymphocytic, Nodular, Poorly Differentiated
Lymphoma, Lymphocytic, Nodular, Poorly Differentiated[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated
Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Mixed-Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Nodular Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Nodular, Large Follicular Center Cell
Lymphoma, Nodular, Large Follicular Center Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Nodular, Large Follicular Center-Cell
Lymphoma, Nodular, Large Follicular Center-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Nodular, Mixed Lymphocytic Histiocytic
Lymphoma, Nodular, Mixed Lymphocytic Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic
Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Nodular, Mixed Small and Large Cell
Lymphoma, Nodular, Mixed Small and Large Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Small Cleaved Cell, Follicular
Lymphoma, Small Cleaved Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Small Cleaved-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Small Follicular Center Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Small Follicular Center-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphoma, Small Lymphoid, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphomas Non-Hodgkin's B-Cell[accessedResource: C3457][accessDate: 05-04-2011]
Lymphomas, Follicular Large-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphomas, Follicular Mixed-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphomas, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphomas, Giant Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphomas, Nodular Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Lymphomas, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
MIXED LYMPHOMA FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.
Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Malignant lymphoma in which the majority of neoplastic cells within the follicles are large cleaved or noncleaved cells. The degree to which the follicular center cells retain their ability to form follicles varies with the state of B-cell transformation.
Malignant lymphoma in which the majority of neoplastic cells within the follicles are large cleaved or noncleaved cells. The degree to which the follicular center cells retain their ability to form follicles varies with the state of B-cell transformation.[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Mixed Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Mixed-Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Mixed-Cell Lymphomas, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
NODULAR LARGE FOLLIC CENTER LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Nodular Histiocytic Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Nodular Histiocytic Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Nodular Large Follicular Center Cell Lymphoma
Nodular Large Follicular Center Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Nodular Large Follicular Center-Cell Lymphoma
Nodular Large Follicular Center-Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Nodular Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Nodular Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Non-Hodgkin's B-Cell Lymphoma[accessedResource: C3457][accessDate: 05-04-2011]
Non-Hodgkin's Lymphoma B-Cell[accessedResource: C3457][accessDate: 05-04-2011]
SMALL CLEAVED LYMPHOMA FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011]
SMALL FOLLIC CENTER LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Small Cleaved Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Small Cleaved-Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Small Follicular Center Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
Small Follicular Center-Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011]
The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003
The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003[accessedResource: C3457][accessDate: 05-04-2011]
Consolidated with B cell (EFO_0000101), use B cell class instead.
Benign pseudohypertrophic muscular dystrophy
pseudohypertrophic progressive duchenne and becker types muscular dystrophy
Becker muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis.
use 'http://www.orphanet.org/rdfns#pat_id_13912' instead. New Label : Becker muscular dystrophy
Obsolete - term hippocampus already exists
A basal part of the diencephalon that lies beneath the thalamus on each side, forms the floor of the third ventricle, and includes vital autonomic regulatory centers.nThe ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis.
A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.
A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.[accessedResource: TAO:0000032][accessDate: 05-04-2011]
CNS - Brain - Hypothalamus (MMHCC)[accessedResource: NCIt:C22616][accessDate: 05-04-2011]
Multi-tissue structure which is the largest portion of diencephalon and is ventrally located. The hypothalamus arises near the end of the segmentation period and the embryonic hypothalamic region gives rise to the neurohypophysis and other diencephalic nuclei.
Multi-tissue structure which is the largest portion of diencephalon and is ventrally located. The hypothalamus arises near the end of the segmentation period and the embryonic hypothalamic region gives rise to the neurohypophysis and other diencephalic nuclei.[accessedResource: ZFA:0000032][accessDate: 05-04-2011]
Preoptico-hypothalamic area[accessedResource: FMAID:62008][accessDate: 05-04-2011]
Preoptico-hypothalamic region[accessedResource: FMAID:62008][accessDate: 05-04-2011]
The ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis.
The ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis.[accessedResource: BTO:0000614][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001898 label: hypothalamus
An anterior projection of each cerebral hemisphere that is continuous anteriorly with the olfactory nerve;nA term applied to the olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone.
An anterior projection of each cerebral hemisphere that is continuous anteriorly with the olfactory nerve;nA term applied to the olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone.[accessedResource: BTO:0001362][accessDate: 05-04-2011]
Brain structure which is the paired anteriormost part of the telencephalon and are connected to the telencephalon by two tracts carrying secondary olfactory fibers. From Neuroanatomy of the Zebrafish Brain.
Brain structure which is the paired anteriormost part of the telencephalon and are connected to the telencephalon by two tracts carrying secondary olfactory fibers. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000402][accessDate: 05-04-2011]
CNS - Brain - Olfactory Bulb (MMHCC)[accessedResource: NCIt:C22619][accessDate: 05-04-2011]
Segment of neural tree organ which is continuous with a set of olfactory nerves and an olfactory tract.
bulbus olfactorius[accessedResource: ZFA:0000402][accessDate: 05-04-2011]
olfactory bulb[accessedResource: ZFA:0000402][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005366 label: olfactory lobe
Use corpus striatum instead (EFO_0000381)
Segment of neuraxis that has as its parts gray matter and white matter that surround the central canal. Examples: There is only one spinal cord.
The cord of nervous tissue that extends from the brain lengthwise along the back in the vertebral canal, gives off the pairs of spinal nerves, carries impulses to and from the brain, and serves as a center for initiating and coordinating many reflex acts.
The cord of nervous tissue that extends from the brain lengthwise along the back in the vertebral canal, gives off the pairs of spinal nerves, carries impulses to and from the brain, and serves as a center for initiating and coordinating many reflex acts.[accessedResource: BTO:0001279][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002240 label: spinal cord
CS57770 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm
CS57771 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158795&type=germplasm
CS57776 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158800&type=germplasm
CS57777 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158801&type=germplasm
CS57778 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158802&type=germplasm
CS57779 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158803&type=germplasm
CS57783 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158807&type=germplasm
CS57785 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm
CS57789 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158813&type=germplasm
CS57790 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158814&type=germplasm
CS57801 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158825&type=germplasm
CS57803 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158827&type=germplasm
CS57807 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158831&type=germplasm
CS57810 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158834&type=germplasm
CS57811 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158835&type=germplasm
CS57812 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158836&type=germplasm
CS57813 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158837&type=germplasm
CS57816 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158840&type=germplasm
CS57820 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158844&type=germplasm
CS57822 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm
CS57823 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158847&type=germplasm
CS57824 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158848&type=germplasm
CS57825 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158849&type=germplasm
CS57826 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158850&type=germplasm
CS57827 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158851&type=germplasm
CS57828 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158852&type=germplasm
CS57834 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158858&type=germplasm
CS57835 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158859&type=germplasm
CS57836 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158860&type=germplasm
CS57840 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158864&type=germplasm
CS57842 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158866&type=germplasm
CS57843 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158867&type=germplasm
CS57847 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158871&type=germplasm
CS57848 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158872&type=germplasm
CS57850 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158874&type=germplasm
CS57854 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158878&type=germplasm
CS57858 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158882&type=germplasm
CS57859 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158883&type=germplasm
CS57867 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158891&type=germplasm
CS57870 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158894&type=germplasm
CS57871 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158895&type=germplasm
CS57873 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158897&type=germplasm
CS57874 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158898&type=germplasm
CS57875 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm
CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm
CS57883 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158907&type=germplasm
CS57884 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158908&type=germplasm
CS57886 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158910&type=germplasm
CS57890 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm
CS57896 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158920&type=germplasm
CS57901 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm
CS57904 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158928&type=germplasm
CS57905 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm
CS57908 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158932&type=germplasm
CS57923 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164919&type=germplasm
CS57924 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164920&type=germplasm
CS8581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=4473197&type=germplasm
Duplicate with chronic lymphocytic leukemia (EFO_0000095) use this instead
OntologyMappingImporter following DOID:1040
A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast.
A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast.[accessedResource: ZFA:0000711][accessDate: 05-04-2011]
DEL[accessedResource: ZFA:0000711][accessDate: 05-04-2011]
deep cell layer[accessedResource: ZFA:0000711][accessDate: 05-04-2011]
obsolete_Daudi Burkitt's lymphoma cell line
A Daudi Burkitt's lymphoma cell line is a cell line. A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymphoma.
Natural Language Generator 8th April 2010
duplicate of Daudi http://www.ebi.ac.uk/efo/EFO_0002169
A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)
duplicate of EFO_0000174 Ewing's sarcoma
A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)[accessedResource: MSH:D012512][accessDate: 05-04-2011]
A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.
A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.[accessedResource: NCIt:C4817][accessDate: 05-04-2011]
A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.
A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. -- 2004
A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
Askin tumor (morphologic abnormality)[accessedResource: DOID:3369][accessDate: 05-04-2011]
Askin's tumor (morphologic abnormality)[accessedResource: DOID:3369][accessDate: 05-04-2011]
Askin's tumor[accessedResource: DOID:3369][accessDate: 05-04-2011]
EFTs[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
ES[accessedResource: NCIt:C4817][accessDate: 05-04-2011]
Ewing Family of Tumors[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
Ewing Tumor[accessedResource: MSH:D012512][accessDate: 05-04-2011]
Ewing sarcoma family of tumors[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
Ewing's Family of Tumors[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
Ewing's Family of Tumours[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
Ewing's Tumor[accessedResource: NCIt:C4817][accessDate: 05-04-2011]
Ewing's sarcoma (morphologic abnormality)
Ewing's sarcoma (morphologic abnormality)[accessedResource: DOID:3369][accessDate: 05-04-2011]
Ewing's sarcoma[accessedResource: SNOMEDCT:76909002][accessDate: 05-04-2011]
Ewing's tumour[accessedResource: SNOMEDCT:76909002][accessDate: 05-04-2011]
Ewings Tumor[accessedResource: MSH:D012512][accessDate: 05-04-2011]
Ewings sarcoma-primitive neuroectodermal tumor
Ewings sarcoma-primitive neuroectodermal tumor[accessedResource: DOID:3369][accessDate: 05-04-2011]
Ewings sarcoma[accessedResource: DOID:3369][accessDate: 05-04-2011]
PNET of Thoracopulmonary Region[accessedResource: DOID:3369][accessDate: 05-04-2011]
Sarcoma, Ewing's[accessedResource: MSH:D012512][accessDate: 05-04-2011]
Sarcoma, Ewing[accessedResource: MSH:D012512][accessDate: 05-04-2011]
Sarcoma, Ewings[accessedResource: MSH:D012512][accessDate: 05-04-2011]
Tumor, Ewing's[accessedResource: MSH:D012512][accessDate: 05-04-2011]
Tumors of Ewing's Family[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
Tumors of the Ewing's Family[accessedResource: NCIt:C27291][accessDate: 05-04-2011]
peripheral Neuroectodermal neoplasm[accessedResource: DOID:3369][accessDate: 05-04-2011]
peripheral neuroectodermal tumor (disorder)
peripheral neuroectodermal tumor (disorder)[accessedResource: DOID:3369][accessDate: 05-04-2011]
peripheral neuroectodermal tumor (morphologic abnormality)
peripheral neuroectodermal tumor (morphologic abnormality)[accessedResource: DOID:3369][accessDate: 05-04-2011]
peripheral neuroepithelioma (disorder)[accessedResource: DOID:3369][accessDate: 05-04-2011]
FUM1 is a yeast strain as described in http://www.genedb.org/genedb/Search?organism=cerevisiae&name=YPL262W&isid=true
Fisher344 is a rat strain as described in http://www.ratmap.org/ShowStrainDetails.html?strain=72
CA IN SITU STOMACH[accessedResource: ICD9:230.2][accessDate: 05-04-2011]
carcinoma in situ of stomach (disorder)[accessedResource: DOID:9138][accessDate: 05-04-2011]
carcinoma in situ of stomach NOS (disorder)
carcinoma in situ of stomach NOS (disorder)[accessedResource: DOID:9138][accessDate: 05-04-2011]
carcinoma in situ of stomach[accessedResource: DOID:9138][accessDate: 05-04-2011]
gastric carcinoma in situ[accessedResource: DOID:9138][accessDate: 05-04-2011]
Goto-Kakizaki is a rat strain as described in http://www.taconic.com/wmspage.cfm?parm1=757
Human Immunodeficiency Virus 1[accessedResource: NCIt:C14220][accessDate: 05-04-2011]
Human Immunodeficiency Virus, Type 1[accessedResource: NCIt:C14220][accessDate: 05-04-2011]
The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.
The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.[accessedResource: NCIt:C14220][accessDate: 05-04-2011]
A carcinoma of any tissue within the head and neck region.
A carcinoma of any tissue within the head and neck region.[accessedResource: NCIt:C35850][accessDate: 05-04-2011]
A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.
A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.[accessedResource: NCIt:C34447][accessDate: 05-04-2011]
Carcinoma of Head and Neck[accessedResource: NCIt:C35850][accessDate: 05-04-2011]
Head and Neck Carcinoma[accessedResource: NCIt:C35850][accessDate: 05-04-2011]
SCCHN[accessedResource: NCIt:C34447][accessDate: 05-04-2011]
Squamous Cell Carcinoma of Head and Neck
Squamous Cell Carcinoma of Head and Neck[accessedResource: NCIt:C34447][accessDate: 05-04-2011]
Squamous Cell Carcinoma of the Head and Neck[accessedResource: NCIt:C34447][accessDate: 05-04-2011]
carcinoma of the head and neck[accessedResource: DOID:5520][accessDate: 05-04-2011]
squamous cell carcinoma of the head and neck
A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002
A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.
A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.
A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Adult Liver Cancer[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Adult Liver Cancers[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Cancer of Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Cancer of the Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Cancer, Adult Liver[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Cancer, Hepatic[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Cancer, Hepatocellular[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Cancer, Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Cancers, Adult Liver[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Cancers, Hepatic[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Cancers, Hepatocellular[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Cancers, Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Carcinoma of Liver Cells[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
Carcinoma of the Liver Cells[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
Carcinoma, Hepatocellular[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Carcinomas, Hepatocellular[accessedResource: MSH:D006528][accessDate: 05-04-2011]
HCC[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
HEPATIC NEOPL[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Hepatic Cancer[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Hepatic Cancers[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Hepatic Neoplasm[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Hepatic Neoplasms[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Hepatocellular Cancer[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Hepatocellular Cancers[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Hepatocellular Carcinomas[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Hepatoma[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
Hepatomas[accessedResource: MSH:D006528][accessDate: 05-04-2011]
LIVER NEOPL[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Liver Cancer, Adult[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Liver Cancer[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Liver Cancers, Adult[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Liver Cancers[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Liver Cell Cancer (Hepatocellular Carcinoma)
Liver Cell Cancer (Hepatocellular Carcinoma)[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
Liver Cell Carcinoma, Adult[accessedResource: MSH:D006528][accessDate: 05-04-2011]
Liver Cell Carcinoma[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
Liver Neoplasm[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Liver Neoplasms[accessedResource: MSH:D008113][accessDate: 05-04-2011]
NEOPL HEPATIC[accessedResource: MSH:D008113][accessDate: 05-04-2011]
NEOPL LIVER[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Neoplasm, Hepatic[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Neoplasm, Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Neoplasms, Hepatic[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Neoplasms, Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011]
Primary Carcinoma of Liver Cells[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
Primary Carcinoma of the Liver Cells[accessedResource: NCIt:C3099][accessDate: 05-04-2011]
Tumors or cancer of the LIVER.[accessedResource: MSH:D008113][accessDate: 05-04-2011]
A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.[accessedResource: DOID:8567][accessDate: 05-04-2011]
A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen.
A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen.[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Adult Hodgkin Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Disease, Hodgkin's[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Disease, Hodgkin[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Disease, Hodgkins[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Granuloma, Hodgkin's[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Granuloma, Hodgkin[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Granuloma, Hodgkins[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Granuloma, Malignant[accessedResource: MSH:D006689][accessDate: 05-04-2011]
HL[accessedResource: DOID:8567][accessDate: 05-04-2011]
HODGKIN DIS[accessedResource: MSH:D006689][accessDate: 05-04-2011]
HODGKINS DIS[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkin Disease[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkin Granuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkin Lymphoma, Adult[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkin Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkin lymphoma, no ICD-O subtype (morphologic abnormality)
Hodgkin's Disease[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkin's Granuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkin's disease NOS (& [lymphogranuloma malignant])
Hodgkin's disease NOS (morphologic abnormality)
Hodgkin's disease NOS of intra-abdominal lymph nodes (disorder)
Hodgkin's disease NOS of intrapelvic lymph nodes (disorder)
Hodgkin's disease NOS of intrathoracic lymph nodes (disorder)
Hodgkin's disease NOS of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease NOS of lymph nodes of head, face and neck (disorder)
Hodgkin's disease NOS of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's disease NOS of lymph nodes of multiple sites (disorder)
Hodgkin's disease NOS of spleen (disorder)
Hodgkin's disease NOS, unspecified site (disorder)
Hodgkin's disease of intra-abdominal lymph nodes (disorder)
Hodgkin's disease of intrapelvic lymph nodes (disorder)
Hodgkin's disease of intrathoracic lymph nodes (disorder)
Hodgkin's disease of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's disease of lymph nodes of head, face and/or neck (disorder)
Hodgkin's disease of lymph nodes of inguinal region AND/OR lower limb (disorder)
Hodgkin's disease of lymph nodes of multiple sites (disorder)
Hodgkin's disease, unspecified type, involving intra-abdominal lymph nodes
Hodgkin's disease, unspecified type, involving intrapelvic lymph nodes
Hodgkin's disease, unspecified type, involving intrathoracic lymph nodes
Hodgkin's disease, unspecified type, involving lymph nodes of axilla and upper limb
Hodgkin's disease, unspecified type, involving lymph nodes of head, face, and neck
Hodgkin's disease, unspecified type, involving lymph nodes of inguinal region and lower limb
Hodgkin's disease, unspecified type, involving lymph nodes of multiple sites
Hodgkin's disease, unspecified type, involving spleen
Hodgkin's disease, unspecified type, unspecified site, extranodal and solid organ sites
Hodgkin's disease, unspecified type[accessedResource: ICD9:201.9][accessDate: 05-04-2011]
Hodgkin's sarcoma of unspecified site (disorder)
Hodgkin's sarcoma[accessedResource: ICD9:201.2][accessDate: 05-04-2011]
Hodgkins Disease[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Hodgkins Granuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Lymphocyte Depletion Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Lymphocyte Rich Classical Hodgkin's Lymphoma
Lymphocyte Rich Classical Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Lymphocyte-Rich Classical Hodgkin's Lymphoma
Lymphocyte-Rich Classical Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Lymphogranuloma, Malignant[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Lymphogranuloma, malignant (morphologic abnormality)
Lymphogranulomas, Malignant[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Lymphoma, Hodgkin's[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Lymphoma, Hodgkin[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Malignant Granuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Malignant Granulomas[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Malignant Lymphogranuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Malignant Lymphogranulomas[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Mixed Cellularity Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Nodular Lymphocyte Predominant Hodgkin's Lymphoma
Nodular Lymphocyte Predominant Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Nodular Lymphocyte-Predominant Hodgkin's Lymphoma
Nodular Lymphocyte-Predominant Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
Nodular Sclerosing Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011]
stage I Subdiaphragmatic Hodgkin Lymphoma
stage I Subdiaphragmatic Hodgkin Lymphoma[accessedResource: DOID:8567][accessDate: 05-04-2011]
stage II Subdiaphragmatic Hodgkin Lymphoma
stage II Subdiaphragmatic Hodgkin Lymphoma[accessedResource: DOID:8567][accessDate: 05-04-2011]
Made obsolete: considered as synonym to invasive ductal carcinoma
Made obsolete: considered as synonym to invasive lobular carcinoma
Infiltrating Ductal Adenocarcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Infiltrating Ductal Breast Carcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Infiltrating Ductal Carcinoma of Breast[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Infiltrating Ductal Carcinoma of the Breast
Infiltrating Ductal Carcinoma of the Breast[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Infiltrating Ductal Carcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Invasive Ductal Adenocarcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Invasive Ductal Breast Carcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Invasive Ductal Carcinoma of Breast[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Invasive Ductal Carcinoma of the Breast[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Invasive Ductal Carcinoma, NOS[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Invasive Ductal Carcinoma, NST[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Invasive Ductal Carcinoma, No Specific Type
Invasive Ductal Carcinoma, No Specific Type[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
Invasive Ductal Carcinoma, Not Otherwise Specified
Invasive Ductal Carcinoma, Not Otherwise Specified[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.
The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.[accessedResource: NCIt:C4194][accessDate: 05-04-2011]
A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).
A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).[accessedResource: NCIt:C9087][accessDate: 05-04-2011]
A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur.
A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur.[accessedResource: BTO:0002071][accessDate: 05-04-2011]
KS[accessedResource: NCIt:C9087][accessDate: 05-04-2011]
Kaposi - Kaposi's Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011]
Kaposi Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011]
Kaposi's Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011]
Multiple Hemorrhagic Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011]
idiopathic multiple pigmented hemorrhagic sarcoma cell
multiple hemorrhagic sarcoma cell of Kaposi
multiple idiopathic hemorrhagic sarcoma cell
A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)[accessedResource: MSH:D017241][accessDate: 05-04-2011]
MELAS[accessedResource: MSH:D017241][accessDate: 05-04-2011]
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES[accessedResource: DOID:3687][accessDate: 05-04-2011]
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode[accessedResource: MSH:D017241][accessDate: 05-04-2011]
Syndrome, MELAS[accessedResource: MSH:D017241][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_63' instead. New Label : MELAS syndrome
A program to develop and refine experimental models that reflect the etiology and progression of human cancer.
An MMHCC (Mouse Models of Human Cancers Consortium) part is an organism part that has been modelled by the MMHCC, a program to develop and refine experimental models that reflect the etiology and progression of human cancer.
obsolete_malignant peripheral nerve sheath tumor class
An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1).
Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Cardiovascular Syndrome, Metabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Cardiovascular Syndromes, Metabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Dysmetabolic Syndrome X[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Insulin Resistance Syndrome X[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Metabolic Cardiovascular Syndrome[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Metabolic Syndrome X[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Metabolic X Syndrome[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Reaven Syndrome X[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Syndrome X, Dysmetabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Syndrome X, Insulin Resistance[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Syndrome X, Metabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Syndrome X, Reaven[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Syndrome, Metabolic Cardiovascular[accessedResource: MSH:D024821][accessDate: 05-04-2011]
Syndrome, Metabolic X[accessedResource: MSH:D024821][accessDate: 05-04-2011]
X Syndrome, Metabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011]
A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)
A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Dysmyelopoietic Syndrome[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Hematopoeitic - Myelodysplastic Syndrome (MDS)
Hematopoeitic - Myelodysplastic Syndrome (MDS)[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
MDS[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Myelodysplasia[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Myelodysplastic Neoplasm[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Myelodysplastic Syndrome/Neoplasm[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Myelodysplastic Syndromes[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells.
Oligoblastic Leukemia[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Preleukemia[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
Smoldering Leukemia[accessedResource: NCIt: C3247][accessDate: 05-04-2011]
obsolete_precursor T lymphoblastic leukemia
obsolete - duplication with T cell acute lymphoblastic leukemia EFO_0000209 use this instead
Duplication with acute promyelocytic leukemia (EFO_0000224)
A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.
A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.[accessedResource: NCIt:C3996][accessDate: 05-04-2011]
Benign Monoclonal Gammopathy[accessedResource: NCIt:C3996][accessDate: 05-04-2011]
MGUS - Monoclonal gammopathy of uncertain significance
MGUS - Monoclonal gammopathy of uncertain significance[accessedResource: SNOMEDCT:277577000][accessDate: 05-04-2011]
MGUS[accessedResource: DOID:7442][accessDate: 05-04-2011]
Monoclonal Gammopathy Of Undetermined Significance (MGUS)
Monoclonal Gammopathy Of Undetermined Significance (MGUS)[accessedResource: NCIt:C3996][accessDate: 05-04-2011]
Monoclonal Gammopathy of Unknown Significance
Monoclonal Gammopathy of Unknown Significance[accessedResource: NCIt:C3996][accessDate: 05-04-2011]
Monoclonal gammopathy of uncertain significance
Monoclonal gammopathy of uncertain significance (disorder)
Monoclonal gammopathy of uncertain significance (disorder)[accessedResource: SNOMEDCT:277577000][accessDate: 05-04-2011]
Monoclonal gammopathy of undetermined significance
Monoclonal gammopathy of undetermined significance (morphologic abnormality)
Monoclonal gammopathy of undetermined significance (morphologic abnormality)[accessedResource: SNOMEDCT:35601003][accessDate: 05-04-2011]
Monoclonal gammopathy of undetermined significance[accessedResource: SNOMEDCT:35601003][accessDate: 05-04-2011]
Paraproteinaemia[accessedResource: SNOMEDCT:35601003][accessDate: 05-04-2011]
Paraproteinemia[accessedResource: SNOMEDCT:35601003][accessDate: 05-04-2011]
monoclonal gammopathy of uncertain significance[accessedResource: DOID:7442][accessDate: 05-04-2011]
Scott syndrome (disorder)[accessedResource: SNOMEDCT:128098009][accessDate: 05-04-2011]
Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation.
use 'http://www.orphanet.org/rdfns#pat_id_7521' instead. New Label : Scott syndrome
duplicate of T-cell lymphoblastic lymphoma EFO_0000209
ATLL[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Acute T Cell Lymphoblastic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
Acute T Cell Lymphocytic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
Acute T-Cell Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
Acute T-Cell Lymphoblastic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
Acute T-Cell Lymphocytic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)
Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
Adult T-Cell Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Adult T-Cell Leukemia-Lymphomas[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Adult T-Cell Leukemia[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Adult T-Cell Leukemias[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.
Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.[accessedResource: MSH:D015459][accessDate: 05-04-2011]
HTLV ALL[accessedResource: MSH:D015459][accessDate: 05-04-2011]
HTLV Associated Leukemia Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
HTLV I Associated T Cell Leukemia Lymphoma
HTLV I Associated T Cell Leukemia Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
HTLV-Associated Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
HTLV-Associated Leukemia-Lymphomas[accessedResource: MSH:D015459][accessDate: 05-04-2011]
HTLV-I-Associated T-Cell Leukemia-Lymphoma
HTLV-I-Associated T-Cell Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
HTLV-I-Associated T-Cell Leukemia-Lymphomas
HTLV-I-Associated T-Cell Leukemia-Lymphomas[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Human T Cell Leukemia Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Human T Lymphotropic Virus Associated Leukemia Lymphoma
Human T Lymphotropic Virus Associated Leukemia Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Human T Lymphotropic Virus-Associated Leukemia-Lymphoma
Human T Lymphotropic Virus-Associated Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Human T-Cell Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Human T-Cell Leukemia-Lymphomas[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia Lymphoma, Adult T Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia Lymphoma, T Cell, Acute, HTLV I Associated
Leukemia Lymphoma, T Cell, Acute, HTLV I Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia, Adult T Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia, Adult T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphoma, Adult T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphoma, HTLV-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphoma, HTLV-I-Associated T-Cell
Leukemia-Lymphoma, HTLV-I-Associated T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphoma, Human T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated
Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphomas, Adult T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphomas, HTLV-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphomas, HTLV-I-Associated T-Cell
Leukemia-Lymphomas, HTLV-I-Associated T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemia-Lymphomas, Human T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Leukemias, Adult T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011]
Precursor T Lymphoblastic Leukemia[accessedResource: DOID:5603][accessDate: 05-04-2011]
Precursor T-Lymphoblastic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
Precursor T-cell lymphoblastic leukaemia
Precursor T-cell lymphoblastic leukaemia[accessedResource: SNOMEDCT:277575008][accessDate: 05-04-2011]
Precursor T-cell lymphoblastic leukemia[accessedResource: SNOMEDCT:277575008][accessDate: 05-04-2011]
T Acute Lymphoblastic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
T Cell Leukemia Lymphoma, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T Cell Leukemia Lymphoma, HTLV I Associated
T Cell Leukemia Lymphoma, HTLV I Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T Cell Leukemia, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-ALL[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
T-Cell Leukemia, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-Cell Leukemia-Lymphoma, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-Cell Leukemia-Lymphoma, HTLV-I-Associated
T-Cell Leukemia-Lymphoma, HTLV-I-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-Cell Leukemia-Lymphoma, Human[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-Cell Leukemia-Lymphomas, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-Cell Leukemia-Lymphomas, HTLV-I-Associated
T-Cell Leukemia-Lymphomas, HTLV-I-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-Cell Leukemia-Lymphomas, Human[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-Cell Leukemias, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011]
T-Cell Type Acute Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
T-cell acute lymphoblastic leukaemia[accessedResource: SNOMEDCT:277575008][accessDate: 05-04-2011]
T-cell acute lymphoblastic leukemia (disorder)
T-cell acute lymphoblastic leukemia (disorder)[accessedResource: DOID:5603][accessDate: 05-04-2011]
T-cell acute lymphocytic leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011]
This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)
acute T cell leukemia[accessedResource: DOID:5603][accessDate: 05-04-2011]
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.[accessedResource: MSH:D009396][accessDate: 05-04-2011]
A malignant mixed tumor that affects the kidneys and typically located_in children.
A malignant mixed tumor that affects the kidneys and typically located_in children.[accessedResource: DOID:2154][accessDate: 05-04-2011]
A malignant mixed tumor that affects the kidneys and typically occurs in children.
Bilateral Wilms Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Nephroblastoma (morphologic abnormality)
Nephroblastoma[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Nephroblastomas[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Tumor, Bilateral Wilms[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Tumor, Wilms'[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Tumor, Wilms[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Wilm Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Wilm's Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Wilms Tumor, Bilateral[accessedResource: MSH:D009396][accessDate: 05-04-2011]
Wilms' Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011]
duplicate of class http://www.orphanet.org/rdfns#pat_id_852
renal Wilms tumor[accessedResource: DOID:2154][accessDate: 05-04-2011]
Abdomen[accessedResource: NCIt:C12664][accessDate: 05-04-2011]
The portion of the body that lies between the thorax and the pelvis.
The portion of the body that lies between the thorax and the pelvis.[accessedResource: NCIt:C12664][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003684 label: abdominal cavity
Abdomen Skin[accessedResource: NCIt:C52758][accessDate: 05-04-2011]
The skin or integument surrounding the abdomen.
The skin or integument surrounding the abdomen.[accessedResource: NCIt:C52758][accessDate: 05-04-2011]
A malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. Representative examples include the acinar cell carcinoma of the pancreas and the acinar adenocarcinoma of the prostate gland.
A malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. Representative examples include the acinar cell carcinoma of the pancreas and the acinar adenocarcinoma of the prostate gland.[accessedResource: NCIt:C3768][accessDate: 05-04-2011]
A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)
A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Acinar Carcinoma[accessedResource: NCIt:C3768][accessDate: 05-04-2011]
Acinar Carcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Acinar Cell Adenocarcinoma[accessedResource: NCIt:C3768][accessDate: 05-04-2011]
Acinar Cell Adenocarcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Acinar Cell Carcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Acinar adenocarcinoma[accessedResource: SNOMEDCT:45410002][accessDate: 05-04-2011]
Acinic Cell Adenocarcinoma[accessedResource: NCIt:C3768][accessDate: 05-04-2011]
Acinic Cell Adenocarcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Acinic Cell Carcinoma[accessedResource: NCIt:C3768][accessDate: 05-04-2011]
Acinic Cell Carcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Acinic Cell Tumor[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Acinic Cell Tumors[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Adenocarcinoma, Acinar Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Adenocarcinoma, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Adenocarcinomas, Acinar Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Adenocarcinomas, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Carcinoma, Acinar Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Carcinoma, Acinar[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Carcinoma, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Carcinomas, Acinar Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Carcinomas, Acinar[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Carcinomas, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Serous Acinar Adenoma[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Tumor, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
Tumors, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011]
acinar cell carcinoma (morphologic abnormality)
acinar cell carcinoma (morphologic abnormality)[accessedResource: DOID:3025][accessDate: 05-04-2011]
A stomach disease that is an inflammation of the lining of the stomach.
A stomach disease that is an inflammation of the lining of the stomach.[accessedResource: DOID:4029][accessDate: 05-04-2011]
Erosive Gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011]
Erosive gastropathy (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
GASTRITIS HEMORRHAGIC[accessedResource: DOID:4029][accessDate: 05-04-2011]
Gastric catarrh[accessedResource: SNOMEDCT:4556007][accessDate: 05-04-2011]
Gastritides[accessedResource: MSH:D005756][accessDate: 05-04-2011]
Gastritis (disorder)[accessedResource: SNOMEDCT:4556007][accessDate: 05-04-2011]
Gastritis [Ambiguous][accessedResource: DOID:4029][accessDate: 05-04-2011]
Gastritis unspecified (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
Gastritis unspecified[accessedResource: SNOMEDCT:196743006][accessDate: 05-04-2011]
Gastritis, NOS[accessedResource: SNOMEDCT:4556007][accessDate: 05-04-2011]
Hemorrhagic Gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011]
Idiopathic erosive/hemorrhagic gastritis (disorder)
Idiopathic erosive/hemorrhagic gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders.
Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders.[accessedResource: MSH:D005756][accessDate: 05-04-2011]
Inflammation of the stomach.[accessedResource: NCIt:C26780][accessDate: 05-04-2011]
Other specified gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
Other specified gastritis NOS (disorder)
Other specified gastritis NOS (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
Other specified gastritis, with hemorrhage
Other specified gastritis, with hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011]
Other specified gastritis, without mention of hemorrhage
Other specified gastritis, without mention of hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011]
Other specified gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute gastric mucosal erosion (disorder)
acute gastric mucosal erosion (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute gastritis with hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute gastritis without mention of hemorrhage
acute gastritis without mention of hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute gastritis, with hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute gastritis, without mention of hemorrhage
acute gastritis, without mention of hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute haemorrhagic gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute hemorrhagic gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
acute hemorrhagic gastritis [dup] (disorder)
acute hemorrhagic gastritis [dup] (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
chronic gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
chronic gastritis NOS (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011]
chronic gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011]
gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011]
AC ERTH/ERLK WO ACH RMSN[accessedResource: ICD9:207.00][accessDate: 05-04-2011]
Acute erythremia and erythroleukemia without mention of having achieved remission
Acute erythremia and erythroleukemia without mention of having achieved remission[accessedResource: ICD9:207.00][accessDate: 05-04-2011]
Acute erythremia and erythroleukemia without mention of remission
acute erythremia and erythroleukemia[accessedResource: DOID:1239][accessDate: 05-04-2011]
A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003
Duplicate with acute lymphocytic leukemia (EFO_0000220)
A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.
A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.[accessedResource: MSH:D015452][accessDate: 05-04-2011]
A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.
A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.[accessedResource: MSH:D054198][accessDate: 05-04-2011]
AC LYM LEUK WO ACHV RMSN[accessedResource: ICD9:204.00][accessDate: 05-04-2011]
ALL - Acute Lymphocytic Leukemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011]
ALL - Acute lymphoblastic leukaemia[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011]
ALL - Acute lymphoblastic leukemia[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011]
ALL, Childhood[accessedResource: MSH:D054198][accessDate: 05-04-2011]
ALL[accessedResource: NCIt:C3167][accessDate: 05-04-2011]
Acute Lymphocytic Leukaemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011]
Acute Lymphocytic Leukemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011]
Acute Lymphocytic Leukemias[accessedResource: NCIt:C3167][accessDate: 05-04-2011]
Acute Lymphogenous Leukemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011]
Acute Lymphoid Leukemia[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Acute lymphatic leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphatic leukaemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphatic leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphatic leukemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoblastic leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoblastic leukaemia, precursor-cell type
Acute lymphoblastic leukaemia, precursor-cell type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoblastic leukaemia-lymphoma[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoblastic leukaemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoblastic leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoblastic leukemia, precursor-cell type
Acute lymphoblastic leukemia, precursor-cell type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoblastic leukemia-lymphoma[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphocytic leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphocytic leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoid leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoid leukaemia, disease[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011]
Acute lymphoid leukaemia[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011]
Acute lymphoid leukemia without mention of having achieved remission
Acute lymphoid leukemia without mention of having achieved remission[accessedResource: ICD9:204.00][accessDate: 05-04-2011]
Acute lymphoid leukemia without mention of remission
Acute lymphoid leukemia without mention of remission[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011]
Acute lymphoid leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Acute lymphoid leukemia, disease (disorder)
Acute lymphoid leukemia, disease (disorder)[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011]
Acute lymphoid leukemia, disease[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011]
Childhood ALL[accessedResource: MSH:D054198][accessDate: 05-04-2011]
FAB L2[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
L1 Lymphocytic Leukemia[accessedResource: MSH:D054198][accessDate: 05-04-2011]
L2 Lymphocytic Leukemia[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.
Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.[accessedResource: NCIt:C3167][accessDate: 05-04-2011]
Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia.
Leukemia, Acute Lymphoblastic[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Acute Lymphocytic[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Acute Lymphoid[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, L1 Lymphocytic[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, L2 Lymphocytic[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphoblastic, Acute, L1[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphoblastic, Acute, L2[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphoblastic, Acute, Philadelphia-Positive
Leukemia, Lymphoblastic, Acute, Philadelphia-Positive[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphoblastic, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphoblastic[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphocytic, Acute, L1[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphocytic, Acute, L2[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphocytic, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Lymphoid, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Leukemia, Pre B Cell[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Leukemia, Pre-B-Cell[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Leukemias, Pre-B-Cell[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Lymphoblastic Leukemia, Acute, Adult[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphoblastic Leukemia, Acute, Childhood
Lymphoblastic Leukemia, Acute, Childhood[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphoblastic Leukemia, Acute, L1[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphoblastic Leukemia, Acute, L2[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphoblastic Leukemia, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphoblastic Lymphoma[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphoblastic leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Lymphoblastic leukaemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Lymphoblastic leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Lymphoblastic leukemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Lymphocytic Leukemia, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphocytic Leukemia, L1[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphocytic Leukemia, L2[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphoid leukemia, acute[accessedResource: ICD9:204.0][accessDate: 05-04-2011]
Lymphoma, Lymphoblastic[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Lymphomas, Lymphoblastic[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Pre B ALL[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Pre B Cell Leukemia[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Pre B-ALL[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Pre-B ALL[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Pre-B-Cell Leukemia[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Pre-B-Cell Leukemias[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Precursor B Cell Lymphoblastic Leukemia Lymphoma
Precursor B Cell Lymphoblastic Leukemia Lymphoma[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Precursor B Cell Lymphoblastic Leukemia[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Precursor B Cell Lymphoblastic Lymphoma[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Precursor B-Cell Lymphoblastic Leukemia[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Precursor B-Cell Lymphoblastic Lymphoma[accessedResource: MSH:D015452][accessDate: 05-04-2011]
Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Precursor Cell Lymphoblastic Leukemia-Lymphoma[accessedResource: MSH:D054198][accessDate: 05-04-2011]
Precursor Lymphoblastic Leukemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011]
Precursor cell lymphoblastic leukaemia, not phenotyped
Precursor cell lymphoblastic leukaemia, not phenotyped[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Precursor cell lymphoblastic leukaemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Precursor cell lymphoblastic leukemia (morphologic abnormality)
Precursor cell lymphoblastic leukemia (morphologic abnormality)[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Precursor cell lymphoblastic leukemia, no ICD-O subtype (morphologic abnormality)
Precursor cell lymphoblastic leukemia, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Precursor cell lymphoblastic leukemia, not phenotyped
Precursor cell lymphoblastic leukemia, not phenotyped[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
Precursor cell lymphoblastic leukemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011]
When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.
When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.[accessedResource: MSH:D054198][accessDate: 05-04-2011]
[M]Acute lymphoid leukaemia[accessedResource: SNOMEDCT:190034000][accessDate: 05-04-2011]
[M]Acute lymphoid leukemia (morphologic abnormality)
[M]Acute lymphoid leukemia (morphologic abnormality)[accessedResource: SNOMEDCT:190034000][accessDate: 05-04-2011]
[M]Acute lymphoid leukemia[accessedResource: SNOMEDCT:190034000][accessDate: 05-04-2011]
Acute Monoblastic Leukemias[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Acute Monocytic Leukemias[accessedResource: MSH:D007948][accessDate: 05-04-2011]
An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES.
An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES.[accessedResource: MSH:D007948][accessDate: 05-04-2011]
LEUKEMIA MYELOID ACUTE M 05[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemia, Acute Monoblastic[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemia, Acute Monocytic[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemia, Monoblastic, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemia, Monocytic, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemia, Myeloid, Acute, M5[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemia, Myeloid, Schilling Type[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemia, Myeloid, Schilling-Type[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemia, Schilling-Type Myeloid[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemias, Acute Monoblastic[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Leukemias, Acute Monocytic[accessedResource: MSH:D007948][accessDate: 05-04-2011]
MYELOID LEUKEMIA ACUTE M 05[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Monoblastic Leukemia, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Monoblastic Leukemias, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Monocytic Leukemia, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Monocytic Leukemias, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Myeloid Leukemia, Acute, M5[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Myeloid Leukemia, Schilling Type[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Myeloid Leukemia, Schilling-Type[accessedResource: MSH:D007948][accessDate: 05-04-2011]
Schilling-Type Myeloid Leukemia[accessedResource: MSH:D007948][accessDate: 05-04-2011]
acute Monoblastic Leukemia and acute Monocytic Leukemia
acute Monoblastic Leukemia and acute Monocytic Leukemia[accessedResource: DOID:8864][accessDate: 05-04-2011]
acute monoblastic leukemia (disorder)[accessedResource: DOID:8864][accessDate: 05-04-2011]
acute monoblastic leukemia[accessedResource: DOID:8864][accessDate: 05-04-2011]
acute monocytic leukaemia[accessedResource: DOID:8864][accessDate: 05-04-2011]
acute monocytic leukemia without mention of remission
acute monocytic leukemia without mention of remission[accessedResource: DOID:8864][accessDate: 05-04-2011]
acute monocytic leukemia, FAB M5 (disorder)
acute monocytic leukemia, FAB M5 (disorder)[accessedResource: DOID:8864][accessDate: 05-04-2011]
acute monocytic leukemia, morphology (morphologic abnormality)
acute monocytic leukemia, morphology (morphologic abnormality)[accessedResource: DOID:8864][accessDate: 05-04-2011]
AML - acute Myeloid Leukemia[accessedResource: DOID:9119][accessDate: 05-04-2011]
AML[accessedResource: DOID:9119][accessDate: 05-04-2011]
ANLL in Remission[accessedResource: DOID:9119][accessDate: 05-04-2011]
ANLL[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myeloblastic Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myeloblastic Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myelocytic Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myelocytic Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myelogenous Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myelogenous Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myeloid Leukemia with Maturation[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myeloid Leukemia without Maturation
Acute Myeloid Leukemia without Maturation[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Myeloid Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Nonlymphoblastic Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Nonlymphoblastic Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Nonlymphocytic Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Acute Nonlymphocytic Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.
Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Acute Myeloblastic[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Acute Myelocytic[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Acute Myelogenous[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Acute Myeloid[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Acute Nonlymphoblastic[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Acute Nonlymphocytic[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Myeloblastic, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Myelocytic, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Myelogenous, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Myeloid, Acute, M1[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Myeloid, Acute, M2[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Myeloid, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Nonlymphoblastic, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemia, Nonlymphocytic, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemias, Acute Myeloblastic[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemias, Acute Myelocytic[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemias, Acute Myelogenous[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemias, Acute Myeloid[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemias, Acute Nonlymphoblastic[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Leukemias, Acute Nonlymphocytic[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myeloblastic Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myeloblastic Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myelocytic Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myelocytic Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myelogenous Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myelogenous Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myeloid Leukemia, Acute, M1[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myeloid Leukemia, Acute, M2[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myeloid Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Myeloid leukemia, acute[accessedResource: ICD9:205.0][accessDate: 05-04-2011]
Nonlymphoblastic Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Nonlymphoblastic Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Nonlymphocytic Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
Nonlymphocytic Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011]
acute myeloblastic leukemia (disorder)[accessedResource: DOID:9119][accessDate: 05-04-2011]
acute myeloid leukaemia, disease[accessedResource: DOID:9119][accessDate: 05-04-2011]
acute myeloid leukaemia[accessedResource: DOID:9119][accessDate: 05-04-2011]
acute myeloid leukemia in remission (disorder)
acute myeloid leukemia without mention of remission
acute myeloid leukemia without mention of remission[accessedResource: DOID:9119][accessDate: 05-04-2011]
AMML[accessedResource: NCIt:C7463][accessDate: 05-04-2011]
Acute M4 Myeloid Leukemia[accessedResource: NCIt:C7463][accessDate: 05-04-2011]
Acute Myelomonocytic Leukemia (FAB Type M4)
Acute Myelomonocytic Leukemia (FAB Type M4)[accessedResource: NCIt:C7463][accessDate: 05-04-2011]
An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. Patients typically present with anemia, thrombocytopenia, fever and fatigue. This type of leukemia frequently responds to aggressive therapy. (WHO, 2001) -- 2003
An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. Patients typically present with anemia, thrombocytopenia, fever and fatigue. This type of leukemia frequently responds to aggressive therapy. (WHO, 2001) -- 2003[accessedResource: NCIt:C7463][accessDate: 05-04-2011]
AML with t(15;17)(q22;q12)[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
APL[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
APML - Acute promyelocytic leukemia[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
APML[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA
Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML/RARA
Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML/RARA[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003
An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001)
An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001)[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
FAB M3[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
Promyelocytic Leukemia[accessedResource: NCIt:C3182][accessDate: 05-04-2011]
adaxial cell[accessedResource: ZFA:0000003][accessDate: 05-04-2011]
Is a mandibular muscle that consists of three subdivisions A1, A2, and A3. All three originate on the hyomandibula and suspensorium but each has a distinct insertion. A1 inserts on the maxilla, A2 inserts along the caudal margin of the articular and A3 inserts on the medial surface of the articular.
Is a mandibular muscle that consists of three subdivisions A1, A2, and A3. All three originate on the hyomandibula and suspensorium but each has a distinct insertion. A1 inserts on the maxilla, A2 inserts along the caudal margin of the articular and A3 inserts on the medial surface of the articular.[accessedResource: ZFA:0000311][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0011683 label: adductor mandibulae
A malignant epithelial tumor with a glandular organization.
A malignant epithelial tumor with a glandular organization.[accessedResource: MSH:D000230][accessDate: 05-04-2011]
A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.
Adenocarcinoma, Basal Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenocarcinoma, Granular Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenocarcinoma, Oxyphilic[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenocarcinoma, Tubular[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenocarcinomas, Basal Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenocarcinomas, Granular Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenocarcinomas, Oxyphilic[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenocarcinomas, Tubular[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenoma, Malignant[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Adenomas, Malignant[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Basal Cell Adenocarcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Basal Cell Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
CRISP Thesaurus 2006, Term Number 2000-0386, http://crisp.cit.nih.gov/Thesaurus/00000107.htm Date accessed: 1st Novemeber 2007
Carcinoma, Cribriform[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Carcinoma, Granular Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Carcinoma, Tubular[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Carcinomas, Cribriform[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Carcinomas, Granular Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Carcinomas, Tubular[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Cribriform Carcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Cribriform Carcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Granular Cell Adenocarcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Granular Cell Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Granular Cell Carcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Granular Cell Carcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Malignant Adenoma[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Malignant Adenomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Oxyphilic Adenocarcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Oxyphilic Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Tubular Adenocarcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Tubular Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Tubular Carcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011]
Tubular Carcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011]
pituitary placode[accessedResource: ZFA:0001198][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0009122 label: adenohypophyseal placode
The anterior glandular lobe of the pituitary gland.
The anterior glandular lobe of the pituitary gland.[accessedResource: BTO:0000040][accessDate: 05-04-2011]
The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish.
The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish.[accessedResource: ZFA:0001282][accessDate: 05-04-2011]
anterior hypophysis[accessedResource: ZFA:0001282][accessDate: 05-04-2011]
anterior lobe of pituitary[accessedResource: NIFSTD:birnlex_1581][accessDate: 05-04-2011]
anterior pituitary[accessedResource: ZFA:0001282][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002196 label: adenohypophysis
A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.
A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.[accessedResource: NCIt:C2970][accessDate: 05-04-2011]
Adenocarcinoma, cylindroid[accessedResource: SNOMEDCT:11671000][accessDate: 05-04-2011]
Adenocystic Carcinoma[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Adenocystic Carcinomas[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Adenoid Cystic Carcinomas[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Adenoid cystic carcinoma (morphologic abnormality)
Bronchial adenoma, cylindroid[accessedResource: SNOMEDCT:11671000][accessDate: 05-04-2011]
Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)
Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Carcinoma, Adenocystic[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Carcinoma, Adenoid Cystic[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Carcinomas, Adenocystic[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Carcinomas, Adenoid Cystic[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Cylindroid Adenocarcinoma[accessedResource: NCIt:C2970][accessDate: 05-04-2011]
Cylindroma (except Cylindroma of skin, M-82000)
Cylindroma (except Cylindroma of skin, M-82000)[accessedResource: SNOMEDCT:11671000][accessDate: 05-04-2011]
Cylindroma (morphologic abnormality)[accessedResource: DOID:4866][accessDate: 05-04-2011]
Cylindroma NOS[accessedResource: DOID:4866][accessDate: 05-04-2011]
Cylindroma, NOS (except Cylindroma of skin, M-82000)
Cylindroma, NOS (except Cylindroma of skin, M-82000)[accessedResource: SNOMEDCT:11671000][accessDate: 05-04-2011]
Cylindroma[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Cylindromas[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Cystic Carcinoma, Adenoid[accessedResource: MSH:D003528][accessDate: 05-04-2011]
Cystic Carcinomas, Adenoid[accessedResource: MSH:D003528][accessDate: 05-04-2011]
adenoid cystic cancer[accessedResource: DOID:4866][accessDate: 05-04-2011]
adenoid cystic carcinoma (morphologic abnormality)[accessedResource: DOID:4866][accessDate: 05-04-2011]
A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.
A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.[accessedResource: NCIt:C2855][accessDate: 05-04-2011]
Adenosquamous Cell Lung Carcinoma[accessedResource: NCIt:C9133][accessDate: 05-04-2011]
An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.
An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.[accessedResource: NCIt:C9133][accessDate: 05-04-2011]
No longer required in EFO (no supporting use case)
Cortex of adrenal gland[accessedResource: NCIt:C12396][accessDate: 05-04-2011]
Cortical[accessedResource: NCIt:C12396][accessDate: 05-04-2011]
The outer layer of the adrenal gland. It secretes mineralocorticoids, androgens, and glucocorticoids. (MeSH)
The outer layer of the adrenal gland. It secretes mineralocorticoids, androgens, and glucocorticoids. (MeSH)[accessedResource: NCIt:C12396][accessDate: 05-04-2011]
The outer portion of the adrenal glands that produces several steroid hormones, including cortisol and aldosterone.
The outer portion of the adrenal glands that produces several steroid hormones, including cortisol and aldosterone.[accessedResource: BTO:0000045][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001235 Label: adrenal cortex
A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.
A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Adrenal Gland Chromaffin Paraganglioma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Adrenal Gland Chromaffinoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Adrenal Gland Paraganglioma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Adrenal Medullary Paraganglioma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Adrenal Medullary Pheochromocytoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Adrenal Pheochromocytoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Chromaffin Paraganglioma of the Adrenal Gland
Chromaffin Paraganglioma of the Adrenal Gland[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Intraadrenal Paraganglioma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
PCC[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Phaeochromocytoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
Pheochromocytoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011]
.[accessedResource: FBbt:00005515][accessDate: 05-04-2011]
adult eye primordium early[accessedResource: FBbt:00005515][accessDate: 05-04-2011]
Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs.
Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs.[accessedResource: BTO:0000810][accessDate: 05-04-2011]
Epithelial tube with excretory and osmoregulatory roles connected, via a ureter, to the alimentary canal at the junction of the hindgut and midgut. There are two pairs of Malpighian tubules, the right pair lie at the anterior end of the abdomen, and the left pair at the posterior. Each tubule unites with its partner to form a common ureter which enters the alimentary canal at the junction of the hindgut and midgut (Wessing and Eichelberg, 1978).
Epithelial tube with excretory and osmoregulatory roles connected, via a ureter, to the alimentary canal at the junction of the hindgut and midgut. There are two pairs of Malpighian tubules, the right pair lie at the anterior end of the abdomen, and the left pair at the posterior. Each tubule unites with its partner to form a common ureter which enters the alimentary canal at the junction of the hindgut and midgut (Wessing and Eichelberg, 1978).[accessedResource: FBbt:00005786][accessDate: 05-04-2011]
Malpighian tubules[accessedResource: MAT:0000123][accessDate: 05-04-2011]
The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the initial section of the rectum.
There are five Malpighian tubules that are attached to the alimentary canal posteriorly.
There are five Malpighian tubules that are attached to the alimentary canal posteriorly.[accessedResource: TGMA:0001038][accessDate: 05-04-2011]
adult Malpighian tubule[accessedResource: FBbt:00005725][accessDate: 05-04-2011]
adult Malpighian tubules[accessedResource: TGMA:0001038][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001054 label: malpighian tubule
A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting).
A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.[accessedResource: DOID:8461][accessDate: 05-04-2011]
AIC - Aicardi syndrome[accessedResource: SNOMEDCT:80651009][accessDate: 05-04-2011]
Aicardi's syndrome (disorder)[accessedResource: DOID:8461][accessDate: 05-04-2011]
Aicardi's syndrome[accessedResource: SNOMEDCT:80651009][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_254' instead. New Label : Aicardi syndrome
A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. "Alveolar" refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)[accessedResource: MSH:D018232][accessDate: 05-04-2011]
A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.
A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.[accessedResource: NCIt:C3749][accessDate: 05-04-2011]
ARMS[accessedResource: NCIt:C3749][accessDate: 05-04-2011]
Alveolar Rhabdomyosarcomas[accessedResource: MSH:D018232][accessDate: 05-04-2011]
Alveolar rhabdomyosarcoma (disorder)[accessedResource: SNOMEDCT:404053004][accessDate: 05-04-2011]
Alveolar rhabdomyosarcoma (morphologic abnormality)
Alveolar rhabdomyosarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:63449009][accessDate: 05-04-2011]
Rhabdomyosarcoma, Alveolar[accessedResource: MSH:D018232][accessDate: 05-04-2011]
Rhabdomyosarcomas, Alveolar[accessedResource: MSH:D018232][accessDate: 05-04-2011]
aveolar rhabdomyosarcoma[accessedResource: DOID:4051][accessDate: 05-04-2011]
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)[accessedResource: MSH:D000544][accessDate: 05-04-2011]
A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.[accessedResource: DOID:10652][accessDate: 05-04-2011]
A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.
A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.[accessedResource: NCIt:C2866][accessDate: 05-04-2011]
AD - Alzheimer's disease[accessedResource: SNOMEDCT:26929004][accessDate: 05-04-2011]
AD[accessedResource: DOID:10652][accessDate: 05-04-2011]
ALZHEIMER DIS EARLY ONSET[accessedResource: MSH:D000544][accessDate: 05-04-2011]
ALZHEIMER DIS LATE ONSET[accessedResource: MSH:D000544][accessDate: 05-04-2011]
ALZHEIMER DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011]
ALZHEIMERS DIS FOCAL ONSET[accessedResource: MSH:D000544][accessDate: 05-04-2011]
ALZHEIMERS DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Acute Confusional Senile Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Alzheimer Dementia, Presenile[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Alzheimer Disease, Early Onset[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Alzheimer Disease, Late Onset[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Alzheimer Disease[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Alzheimer Senile Dementia[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011]
Alzheimer Type Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Alzheimer Type Senile Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Alzheimer dementia[accessedResource: NCIt:C2866][accessDate: 05-04-2011]
Alzheimer's Dementia[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011]
Alzheimer's Disease Pathway KEGG[accessedResource: NCIt:C38778][accessDate: 05-04-2011]
Alzheimer's Disease, Focal Onset[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Alzheimer's disease (disorder)[accessedResource: DOID:10652][accessDate: 05-04-2011]
Alzheimer's disease, NOS[accessedResource: SNOMEDCT:26929004][accessDate: 05-04-2011]
Alzheimer's[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011]
Alzheimers Dementia[accessedResource: DOID:10652][accessDate: 05-04-2011]
Alzheimers disease[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011]
Alzheimers[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011]
DAT - Dementia Alzheimer's type[accessedResource: SNOMEDCT:192160005][accessDate: 05-04-2011]
Dementia in Alzheimer's disease (disorder)
Dementia in Alzheimer's disease (disorder)[accessedResource: DOID:10652][accessDate: 05-04-2011]
Dementia in Alzheimer's disease, unspecified (disorder)
Dementia in Alzheimer's disease, unspecified (disorder)[accessedResource: DOID:10652][accessDate: 05-04-2011]
Dementia in Alzheimer's disease[accessedResource: SNOMEDCT:192160005][accessDate: 05-04-2011]
Dementia of the Alzheimer's type[accessedResource: DOID:10652][accessDate: 05-04-2011]
Dementia, Alzheimer Type[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Dementia, Presenile Alzheimer[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Dementia, Presenile[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Dementia, Primary Senile Degenerative[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Dementia, Senile[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Dementias, Presenile[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Dementias, Senile[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Disease, Alzheimer's[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Disease, Alzheimer[accessedResource: MSH:D000544][accessDate: 05-04-2011]
EARLY ONSET ALZHEIMER DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Early Onset Alzheimer Disease[accessedResource: MSH:D000544][accessDate: 05-04-2011]
FOCAL ONSET ALZHEIMERS DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Focal Onset Alzheimer's Disease[accessedResource: MSH:D000544][accessDate: 05-04-2011]
LATE ONSET ALZHEIMER DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Late Onset Alzheimer Disease[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Presenile Alzheimer Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Presenile Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Presenile Dementias[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Primary Senile Degenerative Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Senile Dementia, Acute Confusional[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Senile Dementia, Alzheimer Type[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Senile Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011]
Senile Dementias[accessedResource: MSH:D000544][accessDate: 05-04-2011]
[X]Dementia in Alzheimer's disease (disorder)
[X]Dementia in Alzheimer's disease (disorder)[accessedResource: SNOMEDCT:192160005][accessDate: 05-04-2011]
[X]Dementia in Alzheimer's disease, unspecified (disorder)[accessedResource: SNOMEDCT:192164001][accessDate: 05-04-2011]
[X]Dementia in Alzheimer's disease, unspecified[accessedResource: SNOMEDCT:192164001][accessDate: 05-04-2011]
[X]Dementia in Alzheimer's disease[accessedResource: SNOMEDCT:192160005][accessDate: 05-04-2011]
A dorsal membrane of the embryo.[accessedResource: FBbt:00000095][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0010302 label: amnioserosa
Amygdaloid Nucleus[accessedResource: NCIt:C12440][accessDate: 05-04-2011]
Amygdaloid complex[accessedResource: FMAID:61841][accessDate: 05-04-2011]
Amygdaloid nuclear complex[accessedResource: FMAID:61841][accessDate: 05-04-2011]
Amygdaloid nuclear groups[accessedResource: FMAID:61841][accessDate: 05-04-2011]
An almond-shaped group of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe. The amygdala is part of the limbic system. (MeSH)
An almond-shaped group of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe. The amygdala is part of the limbic system. (MeSH)[accessedResource: NCIt:C12440][accessDate: 05-04-2011]
Archistriatum[accessedResource: FMAID:61841][accessDate: 05-04-2011]
Subcortical brain region lying anterior to the hippocampal formation in the temporal lobe and anterior to the temporal horn of the lateral ventricle in some species. It is usually subdivided into several groups. Functionally, it is not considered a unitary structure (MM).
Subcortical brain region lying anterior to the hippocampal formation in the temporal lobe and anterior to the temporal horn of the lateral ventricle in some species. It is usually subdivided into several groups. Functionally, it is not considered a unitary structure (MM).[accessedResource: NIFSTD:birnlex_1241][accessDate: 05-04-2011]
Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe.
The one of the four basal ganglia in each cerebral hemisphere that is part of the limbic system and consists of an almond-shaped mass of gray matter in the anterior extremity of the temporal lobe.
The one of the four basal ganglia in each cerebral hemisphere that is part of the limbic system and consists of an almond-shaped mass of gray matter in the anterior extremity of the temporal lobe.[accessedResource: BTO:0001042][accessDate: 05-04-2011]
amygdaloid body[accessedResource: NIFSTD:birnlex_1241][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001876 label: amygdala
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011]
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)[accessedResource: MSH:D000690][accessDate: 05-04-2011]
ALS (Amyotrophic Lateral Sclerosis)[accessedResource: MSH:D000690][accessDate: 05-04-2011]
ALS - Amyotrophic lateral sclerosis[accessedResource: SNOMEDCT:86044005][accessDate: 05-04-2011]
ALS[accessedResource: NCIt:C34373][accessDate: 05-04-2011]
AMYOTROPHIC SCLEROSIS[accessedResource: ICD9:335.20][accessDate: 05-04-2011]
Amyotrophic Lateral Sclerosis With Dementia
Amyotrophic Lateral Sclerosis With Dementia[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Amyotrophic Lateral Sclerosis, Guam Form
Amyotrophic Lateral Sclerosis, Guam Form[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Amyotrophic lateral sclerosis (disorder)
Amyotrophic lateral sclerosis (disorder)[accessedResource: DOID:332][accessDate: 05-04-2011]
Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam
Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam[accessedResource: MSH:D000690][accessDate: 05-04-2011]
An autosomal dominant inherited form of amyloidosis.
An autosomal dominant inherited form of amyloidosis.[accessedResource: NCIt:C34373][accessDate: 05-04-2011]
Bulbar motor neuron disease[accessedResource: SNOMEDCT:86044005][accessDate: 05-04-2011]
Dementia With Amyotrophic Lateral Sclerosis
Dementia With Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Disease, Lou-Gehrigs[accessedResource: MSH:D000690][accessDate: 05-04-2011]
GEHRIGS DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Gehrig Disease[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Gehrig's Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011]
Gehrigs Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011]
Guam Form of Amyotrophic Lateral Sclerosis
Guam Form of Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011]
LOU GEHRIG DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011]
LOU GEHRIGS DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Lateral Scleroses, Amyotrophic[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Lou Gehrig Disease[accessedResource: NCIt:C34373][accessDate: 05-04-2011]
Lou Gehrig's disease[accessedResource: DOID:332][accessDate: 05-04-2011]
Lou Gehrigs Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011]
Lou-Gehrigs Disease[accessedResource: MSH:D000690][accessDate: 05-04-2011]
MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS
MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011]
Sclerosis, Amyotrophic Lateral[accessedResource: MSH:D000690][accessDate: 05-04-2011]
motor neuron disease, bulbar[accessedResource: DOID:332][accessDate: 05-04-2011]
A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes. It occurs in the middle aged and elderly, with an equal incidence in males and females. The clinical course is typically aggressive. (WHO, 2001)
A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes. It occurs in the middle aged and elderly, with an equal incidence in males and females. The clinical course is typically aggressive. (WHO, 2001)[accessedResource: NCIt:C7528][accessDate: 05-04-2011]
AILD[accessedResource: NCIt:C7528][accessDate: 05-04-2011]
AILT[accessedResource: NCIt:C7528][accessDate: 05-04-2011]
Angioimmunoblastic Lymphadenopathy Type T-Cell Lymphoma
Angioimmunoblastic Lymphadenopathy Type T-Cell Lymphoma[accessedResource: NCIt:C7528][accessDate: 05-04-2011]
Angioimmunoblastic Lymphadenopathy with Dysproteinemia
Angioimmunoblastic Lymphadenopathy with Dysproteinemia[accessedResource: NCIt:C7528][accessDate: 05-04-2011]
Angioimmunoblastic Lymphadenopathy[accessedResource: NCIt:C7528][accessDate: 05-04-2011]
"anlagen in statu nascendi" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains.
"anlagen in statu nascendi" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains.[accessedResource: FBbt:00005413][accessDate: 05-04-2011]
.[accessedResource: FBbt:00005510][accessDate: 05-04-2011]
antennal primordium[accessedResource: FBbt:00005510][accessDate: 05-04-2011]
wing disc-derived cell-line[accessedResource: FBbt:00005537][accessDate: 05-04-2011]
anterior endoderm anlage in statu nascendi
anterior midgut inclusive primordium[accessedResource: FBbt:00000444][accessDate: 05-04-2011]
An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins.
antibodies[accessedResource: NIFSTD:birnlex_2110][accessDate: 05-04-2011]
Aorta, Ascending[accessedResource: MSH:D001011][accessDate: 05-04-2011]
Aortas, Ascending[accessedResource: MSH:D001011][accessDate: 05-04-2011]
Aortas[accessedResource: MSH:D001011][accessDate: 05-04-2011]
Aortic[accessedResource: NCIt:C12669][accessDate: 05-04-2011]
Ascending Aorta[accessedResource: MSH:D001011][accessDate: 05-04-2011]
Ascending Aortas[accessedResource: MSH:D001011][accessDate: 05-04-2011]
DA[accessedResource: ZFA:0000014][accessDate: 05-04-2011]
Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery.
Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery. Kimmel et al, 1995.
Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery. Kimmel et al, 1995.[accessedResource: TAO:0000014][accessDate: 05-04-2011]
Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery.[accessedResource: ZFA:0000014][accessDate: 05-04-2011]
The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body.
The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body.[accessedResource: BTO:0000135][accessDate: 05-04-2011]
The main trunk of the systemic arteries.
The main trunk of the systemic arteries.[accessedResource: MSH:D001011][accessDate: 05-04-2011]
The major arterial trunk that carries oxygenated blood from the left ventricle into the ascending aorta behind the heart, the aortic arch, through the thorax as the descending aorta and through the abdomen as the abdominal aorta; it bifurcates into the left and right common iliac arteries.
The major arterial trunk that carries oxygenated blood from the left ventricle into the ascending aorta behind the heart, the aortic arch, through the thorax as the descending aorta and through the abdomen as the abdominal aorta; it bifurcates into the left and right common iliac arteries.[accessedResource: NCIt:C12669][accessDate: 05-04-2011]
Trunk of aortic tree[accessedResource: FMAID:3734][accessDate: 05-04-2011]
Trunk of systemic arterial tree[accessedResource: FMAID:3734][accessDate: 05-04-2011]
adult aorta[accessedResource: FBbt:00003153][accessDate: 05-04-2011]
dorsal aorta[accessedResource: TAO:0000014][accessDate: 05-04-2011]
dorsal aortic root[accessedResource: ZFA:0000014][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000947 label: aorta
A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.[accessedResource: MSH:D001024][accessDate: 05-04-2011]
AS - Aortic stenosis[accessedResource: SNOMEDCT:60573004][accessDate: 05-04-2011]
AS[accessedResource: DOID:1712][accessDate: 05-04-2011]
Aortic Valve Stenoses[accessedResource: MSH:D001024][accessDate: 05-04-2011]
Aortic valve stenosis (disorder)[accessedResource: DOID:1712][accessDate: 05-04-2011]
Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS.
Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS.[accessedResource: DOID:1712][accessDate: 05-04-2011]
Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS.
Aortic valve stenosis, NOS[accessedResource: SNOMEDCT:60573004][accessDate: 05-04-2011]
Aortic valve stenosis[accessedResource: SNOMEDCT:60573004][accessDate: 05-04-2011]
Stenosed aortic valve[accessedResource: SNOMEDCT:60573004][accessDate: 05-04-2011]
Stenoses, Aortic Valve[accessedResource: MSH:D001024][accessDate: 05-04-2011]
Stenoses, Aortic[accessedResource: MSH:D001024][accessDate: 05-04-2011]
Stenosis, Aortic Valve[accessedResource: MSH:D001024][accessDate: 05-04-2011]
Stenosis, Aortic[accessedResource: MSH:D001024][accessDate: 05-04-2011]
Valve Stenoses, Aortic[accessedResource: MSH:D001024][accessDate: 05-04-2011]
Valve Stenosis, Aortic[accessedResource: MSH:D001024][accessDate: 05-04-2011]
A group of cells at the tip of the stem and root that give rise by cell division to the primary tissues and are ultimately responsible for the structural organization of the entire primary plant body.
A group of cells at the tip of the stem and root that give rise by cell division to the primary tissues and are ultimately responsible for the structural organization of the entire primary plant body.[accessedResource: BTO:0000034][accessDate: 05-04-2011]
An instrument design which describes the design of the array.
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.[accessedResource: DOID:2841][accessDate: 05-04-2011]
A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.
A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.[accessedResource: NCIt:C28397][accessDate: 05-04-2011]
A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).
A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).[accessedResource: MSH:D001249][accessDate: 05-04-2011]
ASTHMA NOS W (AC) EXAC[accessedResource: ICD9:493.92][accessDate: 05-04-2011]
Airway hyperreactivity[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011]
Asthma (disorder)[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011]
Asthma NOS (disorder)[accessedResource: SNOMEDCT:266365004][accessDate: 05-04-2011]
Asthma NOS[accessedResource: SNOMEDCT:266365004][accessDate: 05-04-2011]
Asthma unspecified (disorder)[accessedResource: SNOMEDCT:195979001][accessDate: 05-04-2011]
Asthma unspecified[accessedResource: SNOMEDCT:195979001][accessDate: 05-04-2011]
Asthma, Bronchial[accessedResource: MSH:D001249][accessDate: 05-04-2011]
Asthma, unspecified type, with acute exacerbation
Asthma, unspecified type, with acute exacerbation[accessedResource: ICD9:493.92][accessDate: 05-04-2011]
Asthma, unspecified type, without mention of status asthmaticus
Asthma, unspecified type, without mention of status asthmaticus[accessedResource: ICD9:493.90][accessDate: 05-04-2011]
Asthma, unspecified[accessedResource: ICD9:493.9][accessDate: 05-04-2011]
Asthmas[accessedResource: MSH:D001249][accessDate: 05-04-2011]
Asthmatic[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011]
BHR - Bronchial hyperreactivity[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011]
Bronchial Asthma[accessedResource: MSH:D001249][accessDate: 05-04-2011]
Bronchial Hyperreactivities[accessedResource: MSH:D016535][accessDate: 05-04-2011]
Bronchial Hyperreactivity[accessedResource: MSH:D016535][accessDate: 05-04-2011]
Bronchial hyperresponsiveness[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011]
Bronchial hypersensitivity[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011]
DUST PNEUMONOPATHY NEC[accessedResource: ICD9:504][accessDate: 05-04-2011]
Exercise induced asthma[accessedResource: DOID:2841][accessDate: 05-04-2011]
Exercise-induced asthma (disorder)[accessedResource: DOID:2841][accessDate: 05-04-2011]
Hyperreactive airway disease[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011]
Hyperreactive airways disease[accessedResource: SNOMEDCT:195979001][accessDate: 05-04-2011]
Hyperreactivities, Bronchial[accessedResource: MSH:D016535][accessDate: 05-04-2011]
Hyperreactivity, Bronchial[accessedResource: MSH:D016535][accessDate: 05-04-2011]
Other forms of asthma[accessedResource: ICD9:493.8][accessDate: 05-04-2011]
Pneumonopathy due to inhalation of other dust
Pneumonopathy due to inhalation of other dust[accessedResource: ICD9:504][accessDate: 05-04-2011]
Pneumopathy due to inhalation of other dust
Pneumopathy due to inhalation of other dust (disorder)
Pneumopathy due to inhalation of other dust (disorder)[accessedResource: SNOMEDCT:196013003][accessDate: 05-04-2011]
Pneumopathy due to inhalation of other dust NOS
Pneumopathy due to inhalation of other dust NOS (disorder)
Pneumopathy due to inhalation of other dust NOS (disorder)[accessedResource: SNOMEDCT:196015005][accessDate: 05-04-2011]
Pneumopathy due to inhalation of other dust NOS[accessedResource: SNOMEDCT:196015005][accessDate: 05-04-2011]
Pneumopathy due to inhalation of other dust[accessedResource: SNOMEDCT:196013003][accessDate: 05-04-2011]
Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.
Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.[accessedResource: MSH:D016535][accessDate: 05-04-2011]
chronic obstructive asthma with acute exacerbation
chronic obstructive asthma with acute exacerbation[accessedResource: DOID:2841][accessDate: 05-04-2011]
chronic obstructive asthma with status asthmaticus
chronic obstructive asthma with status asthmaticus[accessedResource: DOID:2841][accessDate: 05-04-2011]
chronic obstructive asthma[accessedResource: DOID:2841][accessDate: 05-04-2011]
exercise-induced asthma[accessedResource: DOID:2841][accessDate: 05-04-2011]
A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.
Duplicate with astrocytic tumor (EFO_0000272)
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.[accessedResource: NCIt:C6958][accessDate: 05-04-2011]
Anaplastic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Anaplastic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytic Glioma[accessedResource: NIFSTD:birnlex_12619][accessDate: 05-04-2011]
Astrocytic Gliomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytic Neoplasm[accessedResource: NCIt:C6958][accessDate: 05-04-2011]
Astrocytic Tumor[accessedResource: NCIt:C6958][accessDate: 05-04-2011]
Astrocytic tumor of brain[accessedResource: SNOMEDCT:254938000][accessDate: 05-04-2011]
Astrocytic tumour of brain[accessedResource: SNOMEDCT:254938000][accessDate: 05-04-2011]
Astrocytoma of brain[accessedResource: SNOMEDCT:254938000][accessDate: 05-04-2011]
Astrocytoma, Anaplastic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Cerebral[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Childhood Cerebral[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Fibrillary[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Gemistocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Grade III[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Grade II[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Grade I[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Intracranial[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Juvenile Pilocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, NOS[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011]
Astrocytoma, Pilocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Protoplasmic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, Subependymal Giant Cell[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytoma, low grade[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011]
Astrocytoma, no ICD-O subtype[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011]
Astrocytomas, Anaplastic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Cerebral[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Childhood Cerebral[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Fibrillary[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Gemistocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Grade III[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Grade II[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Grade I[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Intracranial[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Juvenile Pilocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Pilocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas, Protoplasmic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Astroglioma[accessedResource: NIFSTD:birnlex_12619][accessDate: 05-04-2011]
Astrogliomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Cerebral Astrocytoma, Childhood[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Cerebral Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Cerebral Astrocytomas, Childhood[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Cerebral Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Childhood Cerebral Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Childhood Cerebral Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Cystic astrocytoma[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011]
Diffuse astrocytoma, low grade[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011]
Diffuse astrocytoma[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011]
Fibrillary Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Fibrillary Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Gemistocytic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Gemistocytic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Glioma, Astrocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Gliomas, Astrocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Grade I Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Grade I Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Grade II Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Grade II Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Grade III Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Grade III Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Intracranial Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Intracranial Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Juvenile Pilocytic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Juvenile Pilocytic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Mixed Oligoastrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Mixed Oligoastrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).[accessedResource: NIFSTD:birnlex_12619][accessDate: 05-04-2011]
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Oligoastrocytoma, Mixed[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Oligoastrocytomas, Mixed[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Pilocytic Astrocytoma, Juvenile[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Pilocytic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Pilocytic Astrocytomas, Juvenile[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Pilocytic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Protoplasmic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Protoplasmic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011]
Subependymal Giant Cell Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011]
[M]Astrocytoma NOS[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011]
astrocytoma of brain (disorder)[accessedResource: DOID:3069][accessDate: 05-04-2011]
astrocytoma, no ICD-O subtype (morphologic abnormality)
astrocytoma, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3069][accessDate: 05-04-2011]
The atmospheric conditions used to culture or grow an organism.
A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.
A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Atopic Dermatitides[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Atopic Dermatitis[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Atopic Neurodermatitides[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Atopic Neurodermatitis[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Atopic dermatitis and related conditions (disorder)
Atopic dermatitis and related conditions (disorder)[accessedResource: SNOMEDCT:200769008][accessDate: 05-04-2011]
Atopic dermatitis and related conditions[accessedResource: ICD9:691][accessDate: 05-04-2011]
Dermatitides, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Dermatitis, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Disseminated Neurodermatitides[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Disseminated Neurodermatitis[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Eczema, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Eczema, Infantile[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Infantile Eczema[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Neurodermatitides, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Neurodermatitides, Disseminated[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Neurodermatitis, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011]
Neurodermatitis, Disseminated[accessedResource: MSH:D003876][accessDate: 05-04-2011]
OTHER ATOPIC DERMATITIS[accessedResource: ICD9:691.8][accessDate: 05-04-2011]
Other atopic dermatitis and related conditions
Other atopic dermatitis and related conditions[accessedResource: ICD9:691.8][accessDate: 05-04-2011]
atopic dermatitis and related conditions
AF - Atrial fibrillation[accessedResource: SNOMEDCT:49436004][accessDate: 05-04-2011]
Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation.
Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation.[accessedResource: MSH:D001281][accessDate: 05-04-2011]
Atrial Fibrillations[accessedResource: MSH:D001281][accessDate: 05-04-2011]
Atrial fibrillation (disorder)[accessedResource: SNOMEDCT:49436004][accessDate: 05-04-2011]
Auricular Fibrillation[accessedResource: MSH:D001281][accessDate: 05-04-2011]
Auricular Fibrillations[accessedResource: MSH:D001281][accessDate: 05-04-2011]
Fibrillation, Atrial[accessedResource: MSH:D001281][accessDate: 05-04-2011]
Fibrillation, Auricular[accessedResource: MSH:D001281][accessDate: 05-04-2011]
Fibrillations, Atrial[accessedResource: MSH:D001281][accessDate: 05-04-2011]
Fibrillations, Auricular[accessedResource: MSH:D001281][accessDate: 05-04-2011]
A small mass of specialized cardiac muscle fibers, located near the ostium of the coronary sinus and giving rise to the atrioventricular bundle of the conduction system of the heart.
A small mass of specialized cardiac muscle fibers, located near the ostium of the coronary sinus and giving rise to the atrioventricular bundle of the conduction system of the heart.[accessedResource: NCIt:C32161][accessDate: 05-04-2011]
A-V Node[accessedResource: NCIt:C32161][accessDate: 05-04-2011]
AV nodal muscle tissue[accessedResource: FMAID:9478][accessDate: 05-04-2011]
AV node[accessedResource: FMAID:9478][accessDate: 05-04-2011]
Aschoff-Tawara node[accessedResource: FMAID:9478][accessDate: 05-04-2011]
Atrioventricular nodal muscle tissue[accessedResource: FMAID:9478][accessDate: 05-04-2011]
Node of Tawara[accessedResource: FMAID:9478][accessDate: 05-04-2011]
Portion of the somite giving rise to body wall muscle masses.
Portion of the somite giving rise to body wall muscle masses.[accessedResource: ZFA:0000044][accessDate: 05-04-2011]
Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle.
Use http://purl.obolibrary.org/obo/UBERON_0002352 label: atrioventricular node
atriovetricular node[accessedResource: TAO:0005070][accessDate: 05-04-2011]
myotome somite 14[accessedResource: ZFA:0000044][accessDate: 05-04-2011]
General anatomical term which refers to a chamber or cavity to which are connected one or more chambers or passageways. Examples: right atrium of heart, atrium of middle nasal meatus, atrium of tympanic cavity, atrium of alveolus.
In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body.
In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body.[accessedResource: BTO:0000903][accessDate: 05-04-2011]
Most anterior stretch of the embryonic/larval foregut. Its posterior boundary, where the pharynx starts is immediately posterior to the openings of the salivary gland ducts.
Most anterior stretch of the embryonic/larval foregut. Its posterior boundary, where the pharynx starts is immediately posterior to the openings of the salivary gland ducts.[accessedResource: FBbt:00005615][accessDate: 05-04-2011]
One of four heart chambers.[accessedResource: TAO:0000471][accessDate: 05-04-2011]
The paired upper chambers of the heart. The left atrium receives oxygenated blood from the pulmonary vein and pumps blood into the left ventricle. The right atrium receives venous deoxygenated blood from the entire body via the superior and inferior vena cavae and pumps blood into the right ventricle.
Use http://purl.obolibrary.org/obo/UBERON_0002081 Label: cardiac atrium
INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.
INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.[accessedResource: MSH:D010195][accessDate: 05-04-2011]
Inflammation of the pancreas.[accessedResource: NCIt:C3306][accessDate: 05-04-2011]
Pancreatitides[accessedResource: MSH:D010195][accessDate: 05-04-2011]
Pancreatitis (disorder)[accessedResource: SNOMEDCT:75694006][accessDate: 05-04-2011]
Pancreatitis NOS[accessedResource: DOID:4989][accessDate: 05-04-2011]
Pancreatitis, NOS[accessedResource: SNOMEDCT:75694006][accessDate: 05-04-2011]
A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.[accessedResource: MSH:D009845][accessDate: 05-04-2011]
Azoospermia (finding)[accessedResource: DOID:14227][accessDate: 05-04-2011]
Count, Low Sperm[accessedResource: MSH:D009845][accessDate: 05-04-2011]
Counts, Low Sperm[accessedResource: MSH:D009845][accessDate: 05-04-2011]
Low Sperm Count[accessedResource: MSH:D009845][accessDate: 05-04-2011]
Low Sperm Counts[accessedResource: MSH:D009845][accessDate: 05-04-2011]
Oligospermia[accessedResource: MSH:D009845][accessDate: 05-04-2011]
Oligozoospermia[accessedResource: MSH:D009845][accessDate: 05-04-2011]
Sperm Count, Low[accessedResource: MSH:D009845][accessDate: 05-04-2011]
Sperm Counts, Low[accessedResource: MSH:D009845][accessDate: 05-04-2011]
(ulcerative esophagitis) or (Barrett's esophagus)
(ulcerative esophagitis) or (Barrett's esophagus)[accessedResource: DOID:9206][accessDate: 05-04-2011]
A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus.
A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus.[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Barrett Epithelium[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Barrett Esophagus[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Barrett Syndrome[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Barrett's Syndrome[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Barrett's esophagus (disorder) [Ambiguous]
Barrett's esophagus (disorder) [Ambiguous][accessedResource: DOID:9206][accessDate: 05-04-2011]
Barrett's esophagus (disorder)[accessedResource: DOID:9206][accessDate: 05-04-2011]
Barrett's esophagus with esophagitis (disorder)
Barrett's esophagus with esophagitis (disorder)[accessedResource: DOID:9206][accessDate: 05-04-2011]
Barrett's oesophagus[accessedResource: DOID:9206][accessDate: 05-04-2011]
Barrett's ulcer of esophagus (disorder)[accessedResource: DOID:9206][accessDate: 05-04-2011]
Barretts Esophagus[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Barretts syndrome[accessedResource: DOID:9206][accessDate: 05-04-2011]
CLE[accessedResource: DOID:9206][accessDate: 05-04-2011]
Epithelium, Barrett[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Esophagus, Barrett's[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Esophagus, Barrett[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Syndrome, Barrett's[accessedResource: MSH:D001471][accessDate: 05-04-2011]
Syndrome, Barrett[accessedResource: MSH:D001471][accessDate: 05-04-2011]
basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins.
A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance
behavioral_stimulus[accessedResource: MO_674][accessDate: 05-04-2011]
A disease caused by hyperplastic process of non-transformed prostatic cells.
A disease caused by hyperplastic process of non-transformed prostatic cells.[accessedResource: MSH:D011470][accessDate: 05-04-2011]
A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.
A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.[accessedResource: NCIt:C2897][accessDate: 05-04-2011]
Adenofibromatous hypertrophy of prostate
Adenofibromatous hypertrophy of prostate, NOS
Adenofibromatous hypertrophy of prostate, NOS[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Adenofibromatous hypertrophy of prostate[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Adenoma, Prostatic[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Adenomas, Prostatic[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Adenomyomatous hyperplasia of prostate gland
Adenomyomatous hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
BEP - Benign enlargement of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011]
BPH - Benign prostatic hypertrophy[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011]
BPH[accessedResource: NCIt:C2897][accessDate: 05-04-2011]
Benign Hyperplasia of Prostate[accessedResource: NCIt:C2897][accessDate: 05-04-2011]
Benign Hyperplasia of the Prostate[accessedResource: NCIt:C2897][accessDate: 05-04-2011]
Benign Prostate Hyperplasia[accessedResource: NCIt:C2897][accessDate: 05-04-2011]
Benign Prostatic Hyperplasia - BPH[accessedResource: NCIt:C2897][accessDate: 05-04-2011]
Benign Prostatic Hypertrophy[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Benign adenoma of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011]
Benign enlargement of prostate, NOS[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Benign enlargement of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011]
Benign fibroma of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011]
Benign myoma of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011]
Benign prostatic hyperplasia (disorder)[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011]
Benign prostatic hyperplasia, NOS[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Fibromuscular hyperplasia of prostate gland
Fibromuscular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Glandular, stromal AND/OR muscular hyperplasia of prostate gland
Glandular, stromal AND/OR muscular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Glandular, stromal and muscular hyperplasia of prostate gland
Glandular, stromal and muscular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Hyperplasia of prostate (disorder)[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Hyperplasia of prostate, NOS[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Hyperplasia of prostate[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Hyperplasia, Prostatic[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Hypertrophy (benign) of prostate[accessedResource: ICD9:600.0][accessDate: 05-04-2011]
Hypertrophy, Benign Prostatic[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.
Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Lobular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Nodular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Prostatauxe[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011]
Prostatic Adenoma[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Prostatic Adenomas[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Prostatic Hyperplasia, Benign[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Prostatic Hyperplasia[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Prostatic Hypertrophy, Benign[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Prostatic Hypertrophy[accessedResource: MSH:D011470][accessDate: 05-04-2011]
Prostatic area hypertrophy[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011]
A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained.
The physical site from which tissue has been removed from a living organism. Does not imply any statistical significance, i.e. that it is a statistically representative sample of the whole.
There is possible overlap here with sample and perhaps should be merged.
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).[accessedResource: NIFSTD:birnlex_12754][accessDate: 05-04-2011]
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.[accessedResource: NCIt:C34423][accessDate: 05-04-2011]
Affective Bipolar Psychosis[accessedResource: NIFSTD:birnlex_12754][accessDate: 05-04-2011]
Affective Psychosis, Bipolar[accessedResource: MSH:D001714][accessDate: 05-04-2011]
BIPOLAR DISORDER NOS[accessedResource: ICD9:296.80][accessDate: 05-04-2011]
BIPOLAR DIS[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Bipolar Affective Psychosis[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Bipolar Depression[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Bipolar Disorders[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Bipolar affective disorder , current episode mixed (disorder)
Bipolar affective disorder, current episode depression (disorder)
Bipolar affective disorder, manic, unspecified degree
Bipolar affective disorder, mixed, unspecified degree
Bipolar affective disorder[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011]
Bipolar disorder (disorder)[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011]
Bipolar disorder, NOS[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011]
Bipolar disorder, unspecified[accessedResource: ICD9:296.80][accessDate: 05-04-2011]
Depression, Bipolar[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Disorder, Bipolar[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Disorder, Manic[accessedResource: MSH:D001714][accessDate: 05-04-2011]
MANIC DIS[accessedResource: MSH:D001714][accessDate: 05-04-2011]
MDI - Manic-depressive illness[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011]
Mania[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Manias[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Manic Bipolar Affective disorder[accessedResource: DOID:3312][accessDate: 05-04-2011]
Manic Depressive Disorder[accessedResource: NCIt:C34423][accessDate: 05-04-2011]
Manic Depressive Psychosis[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Manic Disorders[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Manic State[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Manic States[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Manic bipolar I disorder[accessedResource: DOID:3312][accessDate: 05-04-2011]
Manic-Depression[accessedResource: NCIt:C34423][accessDate: 05-04-2011]
Manic-Depressive Psychoses[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Manic-depressive illness[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011]
Manic-depressive psychosis[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011]
Psychoses, Bipolar Affective[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Psychoses, Manic Depressive[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Psychoses, Manic-Depressive[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Psychosis, Bipolar Affective[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Psychosis, Manic Depressive[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Psychosis, Manic-Depressive[accessedResource: MSH:D001714][accessDate: 05-04-2011]
State, Manic[accessedResource: MSH:D001714][accessDate: 05-04-2011]
States, Manic[accessedResource: MSH:D001714][accessDate: 05-04-2011]
Unspecified bipolar affective disorder (disorder)
Unspecified bipolar affective disorder (disorder)[accessedResource: SNOMEDCT:191646009][accessDate: 05-04-2011]
Unspecified bipolar affective disorder, NOS
Unspecified bipolar affective disorder, NOS (disorder)
Unspecified bipolar affective disorder, NOS (disorder)[accessedResource: SNOMEDCT:191654006][accessDate: 05-04-2011]
Unspecified bipolar affective disorder, NOS[accessedResource: SNOMEDCT:191654006][accessDate: 05-04-2011]
Unspecified bipolar affective disorder, unspecified
Unspecified bipolar affective disorder, unspecified (disorder)
Unspecified bipolar affective disorder, unspecified (disorder)[accessedResource: SNOMEDCT:191647000][accessDate: 05-04-2011]
Unspecified bipolar affective disorder, unspecified[accessedResource: SNOMEDCT:191647000][accessDate: 05-04-2011]
Unspecified bipolar affective disorder[accessedResource: SNOMEDCT:191646009][accessDate: 05-04-2011]
[X]Bipolar affective disorder, unspecified
[X]Bipolar affective disorder, unspecified (disorder)
[X]Bipolar affective disorder, unspecified (disorder)[accessedResource: SNOMEDCT:192365005][accessDate: 05-04-2011]
[X]Bipolar affective disorder, unspecified[accessedResource: SNOMEDCT:192365005][accessDate: 05-04-2011]
bipolar disease[accessedResource: DOID:3312][accessDate: 05-04-2011]
bipolar disorder manic phase[accessedResource: DOID:3312][accessDate: 05-04-2011]
manic disorder[accessedResource: DOID:3312][accessDate: 05-04-2011]
mixed bipolar affective disorder (disorder)
mixed bipolar affective disorder, NOS (disorder)
mixed bipolar disorder[accessedResource: DOID:3312][accessDate: 05-04-2011]
A membranous sac in animals that serves as the receptacle of a liquid or contains gas.
A membranous sac in animals that serves as the receptacle of a liquid or contains gas.[accessedResource: BTO:0000123][accessDate: 05-04-2011]
Organ with organ cavity which is continuous proximally with the right and left ureters and distally with the urethra. Examples: There is only one urinary bladder.
The distensible sac-like organ that functions as a reservoir of urine, collecting from the kidneys and eliminating via the urethra.
The distensible sac-like organ that functions as a reservoir of urine, collecting from the kidneys and eliminating via the urethra.[accessedResource: NCIt:C12414][accessDate: 05-04-2011]
Urinary System, Bladder[accessedResource: NCIt:C12414][accessDate: 05-04-2011]
Urinary bladder[accessedResource: FMAID:15900][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001255 label: urinary bladder
A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.
A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
A carcinoma that arises_from tissues of the bladder.
A carcinoma that arises_from tissues of the bladder.[accessedResource: DOID:4007][accessDate: 05-04-2011]
A carcinoma that forms in tissues of the bladder.
Bladder Cancer[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Bladder carcinoma is a carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.
Cancer of Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Cancer of Urinary Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Cancer of the Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Cancer of the Urinary Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Carcinoma of Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Carcinoma of Urinary Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Carcinoma of the Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Carcinoma of the Urinary Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Urinary Bladder Cancer[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
Urinary Bladder Carcinoma[accessedResource: NCIt:C4912][accessDate: 05-04-2011]
carcinoma bladder[accessedResource: DOID:4007][accessDate: 05-04-2011]
carcinoma of bladder (disorder)[accessedResource: DOID:4007][accessDate: 05-04-2011]
A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
An abnormal growth, i.e. tumor, located in the bladder.
BLADDER NEOPL[accessedResource: MSH:D001749][accessDate: 05-04-2011]
Bladder Neoplasms[accessedResource: MSH:D001749][accessDate: 05-04-2011]
Bladder Tumors[accessedResource: MSH:D001749][accessDate: 05-04-2011]
NEOPL BLADDER[accessedResource: MSH:D001749][accessDate: 05-04-2011]
NGB - New growth of bladder[accessedResource: SNOMEDCT:126885006][accessDate: 05-04-2011]
Neoplasm of Urinary Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Neoplasm of bladder[accessedResource: SNOMEDCT:126885006][accessDate: 05-04-2011]
Neoplasm of the Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Neoplasm of the Urinary Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Neoplasm, Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011]
Neoplasm, Urinary Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011]
Neoplasms, Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011]
Tumor of Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Tumor of Urinary Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Tumor of the Urinary Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Tumor, Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011]
Tumors, Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011]
Tumour of urinary bladder[accessedResource: SNOMEDCT:126885006][accessDate: 05-04-2011]
URINARY BLADDER NEOPL[accessedResource: MSH:D001749][accessDate: 05-04-2011]
Urinary Bladder Neoplasm[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Urinary Bladder Neoplasms[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Urinary Bladder Tumor[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
Urinary Bladder Tumors[accessedResource: NCIt:C2901][accessDate: 05-04-2011]
bladder neoplasm[accessedResource: DOID:5428][accessDate: 05-04-2011]
neoplasm of bladder (disorder)[accessedResource: DOID:5428][accessDate: 05-04-2011]
tumor of the bladder[accessedResource: DOID:5428][accessDate: 05-04-2011]
An embryo made up of two groups of cells. One group will develop into the fetus and the other will become the placenta.
An embryo made up of two groups of cells. One group will develop into the fetus and the other will become the placenta.[accessedResource: NCIt:C13739][accessDate: 05-04-2011]
Blastosphere[accessedResource: NCIt:C13739][accessDate: 05-04-2011]
Blastula[accessedResource: NCIt:C13739][accessDate: 05-04-2011]
The modified blastula of a placental mammal.
The modified blastula of a placental mammal.[accessedResource: BTO:0001099][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000358 label: blastocyst
1: The fluid that circulates in the heart, arteries, capillaries, and veins of a vertebrate animal carrying nourishment and oxygen to and bringing away waste products from all parts of the body.n2: A comparable fluid of an invertebrate.
1: The fluid that circulates in the heart, arteries, capillaries, and veins of a vertebrate animal carrying nourishment and oxygen to and bringing away waste products from all parts of the body.n2: A comparable fluid of an invertebrate.[accessedResource: BTO:0000089][accessDate: 05-04-2011]
A cell found predominately in the blood.[accessedResource: TAO:0009044][accessDate: 05-04-2011]
A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood.
A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood.[accessedResource: NCIt:C12434][accessDate: 05-04-2011]
Peripheral Blood[accessedResource: NCIt:C12434][accessDate: 05-04-2011]
Reticuloendothelial System, Blood[accessedResource: NCIt:C12434][accessDate: 05-04-2011]
blood cell[accessedResource: TAO:0009044][accessDate: 05-04-2011]
blood cells[accessedResource: MAT:0000083][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000178 label: blood
Bones[accessedResource: NCIt:C12366][accessDate: 05-04-2011]
Connective tissue that forms the skeletal components of the body.
Connective tissue that forms the skeletal components of the body.[accessedResource: NCIt:C12366][accessDate: 05-04-2011]
Osseous[accessedResource: NCIt:C12366][accessDate: 05-04-2011]
Portion of tissue which is calcified connective tissue making up the structural elements of the skeletal system.
Portion of tissue which is calcified connective tissue making up the structural elements of the skeletal system.[accessedResource: TAO:0001514][accessDate: 05-04-2011]
The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone.
The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone.[accessedResource: BTO:0000140][accessDate: 05-04-2011]
An organ composed of grey and white matter containing billions of neurons that is the center for intelligence and reasoning. It is protected by the bony cranium.
An organ composed of grey and white matter containing billions of neurons that is the center for intelligence and reasoning. It is protected by the bony cranium.[accessedResource: NCIt:C12439][accessDate: 05-04-2011]
Brain of the adult.[accessedResource: FBbt:00003624][accessDate: 05-04-2011]
Brain, Nervous System[accessedResource: NCIt:C12439][accessDate: 05-04-2011]
Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.
Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[accessedResource: TAO:0000008][accessDate: 05-04-2011]
Nervous System, Brain[accessedResource: NCIt:C12439][accessDate: 05-04-2011]
Segment of neuraxis that has as its parts gray matter and white matter that surround the cerebral ventricular system; Examples: There is only one brain.
The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord.
The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord.[accessedResource: BTO:0000227][accessDate: 05-04-2011]
The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. * Subdivision of neuraxis that consists of neural tissue (which is organized into gray matter and white matter) and the cerebral ventricular system (cavity of organ part); it is embryologically derived from the rostral part of the neural tube; together with the spinal cord, the brain constitutes the organ neuraxis. Examples: There is only one brain. (UWDA) * That part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. Functions include muscle control and coordination, sensory reception and integration, speech production, memory storage, and the elaboration of thought and emotions. (NCI) * The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. (MSH) * portion of the vertebrate central nervous system that is enclosed within the cranium, continuous with the spinal cord, and composed of gray matter and white matter; the primary center for the regulation and control of bodily activities, receiving and interpreting sensory impulses, and transmitting information to the muscles and body organs; also the seat of consciousness, thought, memory, and emotion; includes the functionally similar portion of the invertebrate nervous system. (CSP)
The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. * Subdivision of neuraxis that consists of neural tissue (which is organized into gray matter and white matter) and the cerebral ventricular system (cavity of organ part); it is embryologically derived from the rostral part of the neural tube; together with the spinal cord, the brain constitutes the organ neuraxis. Examples: There is only one brain. (UWDA) * That part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. Functions include muscle control and coordination, sensory reception and integration, speech production, memory storage, and the elaboration of thought and emotions. (NCI) * The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. (MSH) * portion of the vertebrate central nervous system that is enclosed within the cranium, continuous with the spinal cord, and composed of gray matter and white matter; the primary center for the regulation and control of bodily activities, receiving and interpreting sensory impulses, and transmitting information to the muscles and body organs; also the seat of consciousness, thought, memory, and emotion; includes the functionally similar portion of the invertebrate nervous system. (CSP)[accessedResource: NIFSTD:birnlex_796][accessDate: 05-04-2011]
adult brain[accessedResource: FBbt:00003624][accessDate: 05-04-2011]
central nervous system[accessedResource: BTO:0000227][accessDate: 05-04-2011]
synganglion[accessedResource: MAT:0000098][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000955 label: brain
A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.
A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.[accessedResource: NCIt:C4872][accessDate: 05-04-2011]
A carcinoma that derives_from breast tissue.
A carcinoma that derives_from breast tissue.[accessedResource: DOID:3459][accessDate: 05-04-2011]
A carcinoma that originates from breast tissue.
BREAST CANCER[accessedResource: NCIt:C4872][accessDate: 05-04-2011]
BREAST NEOPL[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Breast Neoplasm[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Breast Neoplasms[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Breast Tumor[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Breast Tumors[accessedResource: MSH:D001943][accessDate: 05-04-2011]
CA - Carcinoma of breast[accessedResource: SNOMEDCT:254838004][accessDate: 05-04-2011]
Cancer of Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Cancer of the Breast[accessedResource: NCIt:C4872][accessDate: 05-04-2011]
Cancer of the human MAMMARY GLAND.[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Cancer, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Carcinoma of breast (disorder)[accessedResource: SNOMEDCT:254838004][accessDate: 05-04-2011]
Carcinoma of breast NOS[accessedResource: SNOMEDCT:286898006][accessDate: 05-04-2011]
Carcinoma of the Breast[accessedResource: NCIt:C4872][accessDate: 05-04-2011]
Carcinoma, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Carcinomas, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Human Mammary Carcinoma[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Human Mammary Carcinomas[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Human Mammary Neoplasm[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Human Mammary Neoplasms[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Mammary Carcinoma, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Mammary Carcinomas, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Mammary Neoplasm, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Mammary Neoplasms, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Mammary carcinoma[accessedResource: DOID:3459][accessDate: 05-04-2011]
NEOPL BREAST[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Neoplasm, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Neoplasm, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Neoplasms, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Neoplasms, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Tumor or cancer of the human MAMMARY GLAND.
Tumor or cancer of the human MAMMARY GLAND.[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Tumor, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Tumors or cancer of the human BREAST.[accessedResource: MSH:D001943][accessDate: 05-04-2011]
Tumors, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011]
carcinoma of breast NOS (disorder)[accessedResource: DOID:3459][accessDate: 05-04-2011]
carcinoma of breast[accessedResource: DOID:3459][accessDate: 05-04-2011]
A carcinoma thought to be derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed)
A carcinoma thought to be derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed)[accessedResource: MSH:D002282][accessDate: 05-04-2011]
A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion.
A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion.[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Adenocarcinoma, Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Adenocarcinoma, Bronchiolo Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Adenocarcinoma, Bronchiolo-Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Adenocarcinomas, Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Adenocarcinomas, Bronchiolo-Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Alveolar Adenocarcinoma[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Alveolar Adenocarcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Alveolar Carcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Alveolar adenocarcinoma (morphologic abnormality)
Alveolar adenocarcinoma (morphologic abnormality)[accessedResource: DOID:4926][accessDate: 05-04-2011]
Alveolar carcinoma[accessedResource: SNOMEDCT:36310008][accessDate: 05-04-2011]
Alveolar cell carcinoma[accessedResource: SNOMEDCT:112677002][accessDate: 05-04-2011]
BAC[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchioalveolar Adenocarcinoma of Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchioalveolar Adenocarcinoma of the Lung
Bronchioalveolar Adenocarcinoma of the Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchioalveolar lung carcinoma[accessedResource: DOID:4926][accessDate: 05-04-2011]
Bronchiolar Carcinoma[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Bronchiolar Carcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Bronchiolar adenocarcinoma[accessedResource: SNOMEDCT:373627005][accessDate: 05-04-2011]
Bronchiolo-Alveolar Adenocarcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Bronchiolo-Alveolar Carcinoma of Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchiolo-Alveolar Carcinoma of the Lung
Bronchiolo-Alveolar Carcinoma of the Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchiolo-Alveolar Carcinoma[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Bronchiolo-Alveolar Carcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Bronchiolo-Alveolar Lung Carcinoma[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchiolo-alveolar adenocarcinoma (morphologic abnormality)
Bronchiolo-alveolar adenocarcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:112677002][accessDate: 05-04-2011]
Bronchiolo-alveolar adenocarcinoma[accessedResource: SNOMEDCT:112677002][accessDate: 05-04-2011]
Bronchioloalveolar Adenocarcinoma of Lung
Bronchioloalveolar Adenocarcinoma of Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchioloalveolar Adenocarcinoma of the Lung
Bronchioloalveolar Adenocarcinoma of the Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchioloalveolar Carcinoma[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Bronchioloalveolar Carcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Bronchioloalveolar Lung Adenocarcinoma[accessedResource: NCIt:C2923][accessDate: 05-04-2011]
Bronchioloalveolar adenocarcinoma[accessedResource: DOID:4926][accessDate: 05-04-2011]
Bronchioloalveolar carcinoma (disorder)[accessedResource: DOID:4926][accessDate: 05-04-2011]
Bronchioloalveolar carcinoma - disorder[accessedResource: SNOMEDCT:373627005][accessDate: 05-04-2011]
Carcinoma, Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Carcinoma, Bronchiolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Carcinoma, Bronchiolo Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Carcinoma, Bronchiolo-Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Carcinoma, Bronchioloalveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Carcinomas, Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Carcinomas, Bronchiolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Carcinomas, Bronchiolo-Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
Carcinomas, Bronchioloalveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011]
[M]Bronchiolo-alveolar adenocarcinoma[accessedResource: SNOMEDCT:112677002][accessDate: 05-04-2011]
A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.
A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.[accessedResource: MSH:D002051][accessDate: 05-04-2011]
African Lymphoma[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitt Cell Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitt Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitt Lymphoma[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitt Tumor[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitt lymphoma/leukaemia[accessedResource: DOID:8584][accessDate: 05-04-2011]
Burkitt's Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitt's Lymphoma[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitt's Tumor[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitt's lymphoma - disorder[accessedResource: DOID:8584][accessDate: 05-04-2011]
Burkitt's lymphoma NOS (disorder)[accessedResource: DOID:8584][accessDate: 05-04-2011]
Burkitt's lymphoma of unspecified site (disorder)
Burkitt's lymphoma of unspecified site (disorder)[accessedResource: DOID:8584][accessDate: 05-04-2011]
Burkitt's tumor NOS (morphologic abnormality)
Burkitt's tumor NOS (morphologic abnormality)[accessedResource: DOID:8584][accessDate: 05-04-2011]
Burkitt's tumor or lymphoma[accessedResource: ICD9:200.2][accessDate: 05-04-2011]
Burkitt's tumors (morphologic abnormality)
Burkitt's tumors (morphologic abnormality)[accessedResource: DOID:8584][accessDate: 05-04-2011]
Burkitt's tumour [obs][accessedResource: DOID:8584][accessDate: 05-04-2011]
Burkitts Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Burkitts Tumor[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Cell Leukemia, Burkitt[accessedResource: MSH:D002051][accessDate: 05-04-2011]
L3 Lymphocytic Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011]
L3 Lymphocytic Leukemias[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Leukemia, Burkitt Cell[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Leukemia, Burkitt's[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Leukemia, Burkitt[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Leukemia, L3 Lymphocytic[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Leukemia, Lymphoblastic, Burkitt-Type[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Leukemia, Lymphocytic, L3[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Leukemias, L3 Lymphocytic[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Lymphocytic Leukemia, L3[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Lymphocytic Leukemias, L3[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Lymphoma, African[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Lymphoma, Burkitt's[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Lymphoma, Burkitt[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Tumor, Burkitt's[accessedResource: MSH:D002051][accessDate: 05-04-2011]
Tumor, Burkitt[accessedResource: MSH:D002051][accessDate: 05-04-2011]
malignant lymphoma, Burkitt's type[accessedResource: DOID:8584][accessDate: 05-04-2011]
small Non-Cleaved cell Lymphoma, Burkitt's type
small Non-Cleaved cell Lymphoma, Burkitt's type[accessedResource: DOID:8584][accessDate: 05-04-2011]
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).
duplicate of limb-girdle muscular dystrophy EFO_0000758
A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease.
CancerSite[accessedResource: MO_26][accessDate: 05-04-2011]
Location of cancer, primary or metastatic
A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases.
CardMesP2[accessedResource: FBbt:00005541][accessDate: 05-04-2011]
CardMes[accessedResource: FBbt:00005541][accessDate: 05-04-2011]
P2 CardMes[accessedResource: FBbt:00005541][accessDate: 05-04-2011]
cardiac mesoderm[accessedResource: FBbt:00005541][accessDate: 05-04-2011]
cardiogenic mesoderm[accessedResource: FBbt:00005541][accessDate: 05-04-2011]
A chamber of the heart which receives blood from a corresponding atrium and from which blood is forced into the arteries.
A chamber of the heart which receives blood from a corresponding atrium and from which blood is forced into the arteries.[accessedResource: BTO:0000862][accessDate: 05-04-2011]
Cardiac Ventricles[accessedResource: NCIt:C12730][accessDate: 05-04-2011]
Cavitated compound organ that receives blood flow from the atrium and delivers blood to the body via the aorta. Valves are present to direct flow. There are only two chambers present in the fish heart.
Cavitated compound organ that receives blood flow from the atrium and delivers blood to the body via the aorta. Valves are present to direct flow. There are only two chambers present in the fish heart.[accessedResource: ZFA:0000009][accessDate: 05-04-2011]
General anatomical term which refers to a chamber of an organ with cavitated organ parts. Examples: right ventricle of heart, lateral ventricle of brain.
Heart Ventricle[accessedResource: NCIt:C12730][accessDate: 05-04-2011]
One of four heart chambers.[accessedResource: TAO:0000009][accessDate: 05-04-2011]
The lower right and left chambers of the heart. The right pumps venous blood into the lungs and the left pumps oxygenated blood into the systemic arterial circulation. (MeSH)
The lower right and left chambers of the heart. The right pumps venous blood into the lungs and the left pumps oxygenated blood into the systemic arterial circulation. (MeSH)[accessedResource: NCIt:C12730][accessDate: 05-04-2011]
Ventricles, Heart[accessedResource: NCIt:C12730][accessDate: 05-04-2011]
ventricle[accessedResource: ZFA:0000009][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002082 Label: cardiac ventricle
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.[accessedResource: NCIt:C34830][accessDate: 05-04-2011]
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).[accessedResource: MSH:D009202][accessDate: 05-04-2011]
CARDIOMYOPATH IN OTH DIS[accessedResource: ICD9:425.8][accessDate: 05-04-2011]
CARDIOMYOPATHIES SECOND[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Cardiomyopathies, Primary[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Cardiomyopathies, Secondary[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Cardiomyopathies[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Cardiomyopathy (disorder)[accessedResource: SNOMEDCT:85898001][accessDate: 05-04-2011]
Cardiomyopathy NOS (disorder)[accessedResource: SNOMEDCT:195037005][accessDate: 05-04-2011]
Cardiomyopathy NOS[accessedResource: SNOMEDCT:195037005][accessDate: 05-04-2011]
Cardiomyopathy in other diseases classified elsewhere
Cardiomyopathy in other diseases classified elsewhere[accessedResource: ICD9:425.8][accessDate: 05-04-2011]
Cardiomyopathy, NOS[accessedResource: SNOMEDCT:85898001][accessDate: 05-04-2011]
Cardiomyopathy, Primary[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Cardiomyopathy, Secondary[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Disease, Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Disease, Primary Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Disease, Secondary Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Diseases, Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Diseases, Primary Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Diseases, Secondary Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Disorder of heart muscle[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011]
Disorder of myocardium[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011]
MYOCARDIAL DIS PRIMARY[accessedResource: MSH:D009202][accessDate: 05-04-2011]
MYOCARDIAL DIS SECOND[accessedResource: MSH:D009202][accessDate: 05-04-2011]
MYOCARDIAL DIS[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Myocardial Disease, Primary[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Myocardial Disease, Secondary[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Myocardial Diseases, Primary[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Myocardial Diseases, Secondary[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Myocardial Diseases[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Myocardial Disorder[accessedResource: NCIt:C35544][accessDate: 05-04-2011]
Myocardial disease (disorder)[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011]
Myocardial disease, NOS[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011]
Myocardial disease[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011]
Myocardiopathies[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Myocardiopathy, NOS[accessedResource: SNOMEDCT:85898001][accessDate: 05-04-2011]
Myocardiopathy[accessedResource: SNOMEDCT:85898001][accessDate: 05-04-2011]
Other primary cardiomyopathies (disorder)
Other primary cardiomyopathies (disorder)[accessedResource: SNOMEDCT:195017006][accessDate: 05-04-2011]
Other primary cardiomyopathies[accessedResource: ICD9:425.4][accessDate: 05-04-2011]
Other primary cardiomyopathy NOS (disorder)
Other primary cardiomyopathy NOS (disorder)[accessedResource: SNOMEDCT:195022006][accessDate: 05-04-2011]
Other primary cardiomyopathy NOS[accessedResource: SNOMEDCT:195022006][accessDate: 05-04-2011]
PRIM CARDIOMYOPATHY NEC[accessedResource: ICD9:425.4][accessDate: 05-04-2011]
PRIMARY MYOCARDIAL DIS[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Primary Cardiomyopathies[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Primary Cardiomyopathy[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Primary Myocardial Disease[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Primary Myocardial Diseases[accessedResource: MSH:D009202][accessDate: 05-04-2011]
SECOND MYOCARDIAL DIS[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Secondary Cardiomyopathies[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Secondary Cardiomyopathy[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Secondary Myocardial Disease[accessedResource: MSH:D009202][accessDate: 05-04-2011]
Secondary Myocardial Diseases[accessedResource: MSH:D009202][accessDate: 05-04-2011]
[X]Cardiomyopathy in other diseases classified elsewhere
[X]Cardiomyopathy in other diseases classified elsewhere (disorder)
[X]Cardiomyopathy in other diseases classified elsewhere (disorder)[accessedResource: SNOMEDCT:195580005][accessDate: 05-04-2011]
[X]Cardiomyopathy in other diseases classified elsewhere[accessedResource: SNOMEDCT:195580005][accessDate: 05-04-2011]
extrinsic cardiomyopathy[accessedResource: DOID:3978][accessDate: 05-04-2011]
A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.[accessedResource: DOID:1287][accessDate: 05-04-2011]
A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. -- 2003
A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.
A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.[accessedResource: NCIt:C2931][accessDate: 05-04-2011]
ASCVD[accessedResource: ICD9:429.2][accessDate: 05-04-2011]
CARDIOVASC DIS[accessedResource: MSH:D002318][accessDate: 05-04-2011]
CIRCULATORY DISEASE NOS[accessedResource: ICD9:459.9][accessDate: 05-04-2011]
CVD, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
CVD[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
CVS disease[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Cardiovascular Disease (CVD)[accessedResource: NCIt:C2931][accessDate: 05-04-2011]
Cardiovascular Diseases[accessedResource: MSH:D002318][accessDate: 05-04-2011]
Cardiovascular Disorder[accessedResource: NCIt:C2931][accessDate: 05-04-2011]
Cardiovascular Disorders[accessedResource: NCIt:C2931][accessDate: 05-04-2011]
Cardiovascular disease, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Cardiovascular disease, unspecified[accessedResource: ICD9:429.2][accessDate: 05-04-2011]
Cardiovascular disorder, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Certain sequelae of myocardial infarction, not elsewhere classified
Certain sequelae of myocardial infarction, not elsewhere classified[accessedResource: ICD9:429.7][accessDate: 05-04-2011]
Circulatory system disease NOS (disorder)
Circulatory system disease NOS (disorder)[accessedResource: SNOMEDCT:195646003][accessDate: 05-04-2011]
Circulatory system disease NOS[accessedResource: SNOMEDCT:195646003][accessDate: 05-04-2011]
DISEASES OF THE CIRCULATORY SYSTEM[accessedResource: ICD9:390-459.99][accessDate: 05-04-2011]
Disease affecting entire cardiovascular system
Disease affecting entire cardiovascular system (disorder)
Disease affecting entire cardiovascular system (disorder)[accessedResource: SNOMEDCT:105980002][accessDate: 05-04-2011]
Disease affecting entire cardiovascular system[accessedResource: SNOMEDCT:105980002][accessDate: 05-04-2011]
Disease of cardiovascular system (disorder)
Disease of cardiovascular system (disorder)[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Disease of cardiovascular system, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Disease of cardiovascular system[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Disease, Cardiovascular[accessedResource: MSH:D002318][accessDate: 05-04-2011]
Diseases, Cardiovascular[accessedResource: MSH:D002318][accessDate: 05-04-2011]
Disorder of cardiovascular system (disorder)
Disorder of cardiovascular system (disorder)[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Disorder of cardiovascular system[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Disorder of circulatory system, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Disorder of circulatory system[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
Disorder of the circulatory system[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011]
ILL-DEFINED HRT DIS NEC[accessedResource: ICD9:429.89][accessDate: 05-04-2011]
Ill-defined descriptions and complications of heart disease
Ill-defined descriptions and complications of heart disease[accessedResource: ICD9:429][accessDate: 05-04-2011]
OTHER SEQUELAE OF MI NEC[accessedResource: ICD9:429.79][accessDate: 05-04-2011]
Other diseases of endocardium (disorder)
Other diseases of endocardium (disorder)[accessedResource: SNOMEDCT:266241000][accessDate: 05-04-2011]
Other diseases of endocardium[accessedResource: ICD9:424][accessDate: 05-04-2011]
Other diseases of pericardium (disorder)
Other diseases of pericardium (disorder)[accessedResource: SNOMEDCT:194962004][accessDate: 05-04-2011]
Other diseases of pericardium[accessedResource: ICD9:423][accessDate: 05-04-2011]
Other disorders of papillary muscle[accessedResource: ICD9:429.81][accessDate: 05-04-2011]
Other forms of heart disease (disorder)[accessedResource: SNOMEDCT:194901009][accessDate: 05-04-2011]
Other forms of heart disease[accessedResource: SNOMEDCT:194901009][accessDate: 05-04-2011]
Other heart disease (disorder)[accessedResource: SNOMEDCT:266309008][accessDate: 05-04-2011]
Other heart disease NOS (disorder)[accessedResource: SNOMEDCT:195151008][accessDate: 05-04-2011]
Other heart disease NOS[accessedResource: SNOMEDCT:195151008][accessDate: 05-04-2011]
Other heart disease[accessedResource: SNOMEDCT:266309008][accessDate: 05-04-2011]
Other ill-defined heart disease (disorder)
Other ill-defined heart disease (disorder)[accessedResource: SNOMEDCT:266251004][accessDate: 05-04-2011]
Other ill-defined heart disease NOS (disorder)
Other ill-defined heart disease NOS (disorder)[accessedResource: SNOMEDCT:195150009][accessDate: 05-04-2011]
Other ill-defined heart disease NOS[accessedResource: SNOMEDCT:195150009][accessDate: 05-04-2011]
Other ill-defined heart disease[accessedResource: SNOMEDCT:266251004][accessDate: 05-04-2011]
Other ill-defined heart diseases[accessedResource: ICD9:429.8][accessDate: 05-04-2011]
Other pericardial disease NOS (disorder)
Other pericardial disease NOS (disorder)[accessedResource: SNOMEDCT:266240004][accessDate: 05-04-2011]
Other pericardial disease NOS[accessedResource: SNOMEDCT:266240004][accessDate: 05-04-2011]
Other sequelae of myocardial infarction, not elsewhere classified
Other sequelae of myocardial infarction, not elsewhere classified[accessedResource: ICD9:429.79][accessDate: 05-04-2011]
Other specified diseases of pericardium[accessedResource: ICD9:423.8][accessDate: 05-04-2011]
Other specified pericardial disease NOS (disorder)
Other specified pericardial disease NOS (disorder)[accessedResource: SNOMEDCT:266239001][accessDate: 05-04-2011]
Other specified pericardial disease NOS[accessedResource: SNOMEDCT:266239001][accessDate: 05-04-2011]
PAPILLARY MUSCLE DIS NEC[accessedResource: ICD9:429.81][accessDate: 05-04-2011]
PERICARDIAL DISEASE NEC[accessedResource: ICD9:423.8][accessDate: 05-04-2011]
Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.[accessedResource: MSH:D002318][accessDate: 05-04-2011]
Unspecified circulatory system disorder[accessedResource: ICD9:459.9][accessDate: 05-04-2011]
[X]Cardiovascular disease, unspecified (disorder)
[X]Cardiovascular disease, unspecified (disorder)[accessedResource: SNOMEDCT:195594006][accessDate: 05-04-2011]
[X]Cardiovascular disease, unspecified[accessedResource: SNOMEDCT:195594006][accessDate: 05-04-2011]
[X]Other forms of heart disease (disorder)
[X]Other forms of heart disease (disorder)[accessedResource: SNOMEDCT:195551001][accessDate: 05-04-2011]
[X]Other forms of heart disease[accessedResource: SNOMEDCT:195551001][accessDate: 05-04-2011]
[X]Other ill-defined heart diseases (disorder)
[X]Other ill-defined heart diseases (disorder)[accessedResource: SNOMEDCT:195588003][accessDate: 05-04-2011]
[X]Other ill-defined heart diseases[accessedResource: SNOMEDCT:195588003][accessDate: 05-04-2011]
[X]Other specified diseases of pericardium
[X]Other specified diseases of pericardium (disorder)
[X]Other specified diseases of pericardium (disorder)[accessedResource: SNOMEDCT:195553003][accessDate: 05-04-2011]
[X]Other specified diseases of pericardium[accessedResource: SNOMEDCT:195553003][accessDate: 05-04-2011]
cardiovascular system disease[accessedResource: DOID:1287][accessDate: 05-04-2011]
disease of subdivision of hemolymphoid system
disease of subdivision of hemolymphoid system[accessedResource: DOID:1287][accessDate: 05-04-2011]
class no longer needed for organizational purposes. Also hard to decide what an instance of a cell factor is.
A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism.
Atwood et al (2000) OED of Biochemistry and Molecular Biology, Oxford University Press.
cell_line[accessedResource: MO_562][accessDate: 05-04-2011]
A cell type is a distinct morphological or functional form of cell. Examples are epithelial, glial etc.
cell_type[accessedResource: MO_548][accessDate: 05-04-2011]
The act of alteration or modification of a cell e.g. RNAi
A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.
A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH).
Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH).[accessedResource: NIFSTD:birnlex_12618][accessDate: 05-04-2011]
CNS Cancer[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
CNS Malignant Neoplasms[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
CNS Neoplasms, Malignant[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Cancer of CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Cancer of Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Cancer of the CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Cancer of the Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Central Nervous System Neoplasms, Malignant
Central Nervous System Neoplasms, Malignant[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Glial Cell Tumor[accessedResource: NIFSTD:birnlex_12618][accessDate: 05-04-2011]
Glioma[accessedResource: NIFSTD:birnlex_12618][accessDate: 05-04-2011]
Malignant CNS Neoplasm[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant CNS Neoplasms[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant CNS Tumor[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Central Nervous System Neoplasm
Malignant Central Nervous System Neoplasm[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Central Nervous System Tumor[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Neoplasm of CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Neoplasm of Central Nervous System
Malignant Neoplasm of Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Neoplasm of the CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Neoplasm of the Central Nervous System
Malignant Neoplasm of the Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Tumor of CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Tumor of Central Nervous System
Malignant Tumor of Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Tumor of the CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
Malignant Tumor of the Central Nervous System
Malignant Tumor of the Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011]
A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe.
A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe.[accessedResource: BTO:0000232][accessDate: 05-04-2011]
Cerebellar[accessedResource: NCIt:C12445][accessDate: 05-04-2011]
The portion of the brain located at the base of the skull that is responsible for balance, equilibrium and movement.
The portion of the brain located at the base of the skull that is responsible for balance, equilibrium and movement.[accessedResource: NCIt:C12445][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002037 label: cerebellum
Cortex of cerebral hemisphere[accessedResource: FMAID:61830][accessDate: 05-04-2011]
Cortex of cerebrum[accessedResource: FMAID:61830][accessDate: 05-04-2011]
Superficial layer of the brain, composed of glia and the cell bodies of neurons (soma).
Superficial layer of the brain, composed of glia and the cell bodies of neurons (soma).[accessedResource: FBbt:00003625][accessDate: 05-04-2011]
The surface layer of gray matter of the cerebrum that functions chiefly in coordination of sensory and motor information.
The surface layer of gray matter of the cerebrum that functions chiefly in coordination of sensory and motor information.[accessedResource: BTO:0000233][accessDate: 05-04-2011]
adult brain cortex[accessedResource: FBbt:00003625][accessDate: 05-04-2011]
perikaryal rind[accessedResource: FBbt:00003625][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000956 label: cerebral cortex
CSF[accessedResource: NCIt:C12692][accessDate: 05-04-2011]
Cerebral Spinal Fluid[accessedResource: NCIt:C12692][accessDate: 05-04-2011]
The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord.
The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord.[accessedResource: NCIt:C12692][accessDate: 05-04-2011]
The serumlike fluid that circulates through the ventricles of the brain, the cavity of the spinal cord, and the subarachnoid space, functioning in shock absorption.
The serumlike fluid that circulates through the ventricles of the brain, the cavity of the spinal cord, and the subarachnoid space, functioning in shock absorption.[accessedResource: BTO:0000237][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001359 label: cerebrospinal fluid
A benign, lytic neoplasm usually arising from the cartilage in epiphysis and metaphysis of bone. It is a well circumscribed tumor characterized by the presence of chondroblasts, osteoclast-like giant cells, myxoid stroma formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. The tumor occurs most frequently in children and young adults.
A benign, lytic neoplasm usually arising from the cartilage in epiphysis and metaphysis of bone. It is a well circumscribed tumor characterized by the presence of chondroblasts, osteoclast-like giant cells, myxoid stroma formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. The tumor occurs most frequently in children and young adults.[accessedResource: NCIt:C2945][accessDate: 05-04-2011]
A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)
A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)[accessedResource: MSH:D002804][accessDate: 05-04-2011]
Chondroblastoma (morphologic abnormality)
Chondroblastoma (morphologic abnormality)[accessedResource: DOID:2649][accessDate: 05-04-2011]
Chondroblastoma NOS (morphologic abnormality)
Chondroblastoma NOS (morphologic abnormality)[accessedResource: DOID:2649][accessDate: 05-04-2011]
Chondroblastoma morphology[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011]
Chondroblastoma of bone[accessedResource: DOID:2649][accessDate: 05-04-2011]
Chondroblastoma, NOS[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011]
Chondroblastomas[accessedResource: MSH:D002804][accessDate: 05-04-2011]
Chondromatous giant cell tumor[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011]
Chondromatous giant cell tumour[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011]
Codman's tumor[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011]
Codman's tumour[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011]
[M]Chondroblastoma NOS (morphologic abnormality)
[M]Chondroblastoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189887007][accessDate: 05-04-2011]
[M]Chondroblastoma NOS[accessedResource: SNOMEDCT:189887007][accessDate: 05-04-2011]
An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.
An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.[accessedResource: NCIt:C3830][accessDate: 05-04-2011]
CMF - Chondromyxoid fibroma[accessedResource: SNOMEDCT:39553005][accessDate: 05-04-2011]
Chondromyxoid fibroma (morphologic abnormality)
Chondromyxoid fibroma (morphologic abnormality)[accessedResource: SNOMEDCT:39553005][accessDate: 05-04-2011]
A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.
A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.[accessedResource: NCIt:C2946][accessDate: 05-04-2011]
A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)
A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)[accessedResource: MSH:D002813][accessDate: 05-04-2011]
Chondrosarcoma morphology[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011]
Chondrosarcoma, NOS[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011]
Chondrosarcoma, no ICD-O subtype (morphologic abnormality)
Chondrosarcoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011]
Chondrosarcoma, no ICD-O subtype[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011]
Chondrosarcomas[accessedResource: MSH:D002813][accessDate: 05-04-2011]
Fibrochondrosarcoma[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011]
[M]Chondrosarcoma NOS (morphologic abnormality)
[M]Chondrosarcoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189886003][accessDate: 05-04-2011]
[M]Chondrosarcoma NOS[accessedResource: SNOMEDCT:189886003][accessDate: 05-04-2011]
chondrosarcoma (morphologic abnormality)
chondrosarcoma (morphologic abnormality)[accessedResource: DOID:3371][accessDate: 05-04-2011]
chondrosarcoma NOS (morphologic abnormality)
chondrosarcoma NOS (morphologic abnormality)[accessedResource: DOID:3371][accessDate: 05-04-2011]
chondrosarcoma of bone[accessedResource: DOID:3371][accessDate: 05-04-2011]
A malignant bone tumor arising from the remnants of the fetal notochord. Although it can occur at all ages, it is more frequently seen in middle-aged adults. Most frequent sites of involvement are: sacrococcygeal area, spheno-occipital area, and the cervico-thoraco-lumbar spine. Microscopically, chordomas are composed of cells that form cords and lobules, separated by mucoid intercellular tissue. Some of the cells are large (physaliphorous) and have vacuolated cytoplasm and prominent vesicular nuclei. Other tumor cells are small with small nuclei without visible nucleoli. Chordomas tend to recur and may metastasize. The most common sites of metastasis are skin and bone.
A malignant bone tumor arising from the remnants of the fetal notochord. Although it can occur at all ages, it is more frequently seen in middle-aged adults. Most frequent sites of involvement are: sacrococcygeal area, spheno-occipital area, and the cervico-thoraco-lumbar spine. Microscopically, chordomas are composed of cells that form cords and lobules, separated by mucoid intercellular tissue. Some of the cells are large (physaliphorous) and have vacuolated cytoplasm and prominent vesicular nuclei. Other tumor cells are small with small nuclei without visible nucleoli. Chordomas tend to recur and may metastasize. The most common sites of metastasis are skin and bone.[accessedResource: NCIt:C2947][accessDate: 05-04-2011]
A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed)
A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed)[accessedResource: MSH:D002817][accessDate: 05-04-2011]
A notochordal cancer that derives_from cellular remnants of the notochord.
A notochordal cancer that derives_from cellular remnants of the notochord.[accessedResource: DOID:3302][accessDate: 05-04-2011]
Chordoma (morphologic abnormality)[accessedResource: DOID:3302][accessDate: 05-04-2011]
Chordomas[accessedResource: MSH:D002817][accessDate: 05-04-2011]
notochordoma[accessedResource: DOID:3302][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_6023' instead. New Label : Chordoma
A type of carcinoma that comprises a minority of renal cell carcinomas. It is characterized by loss of chromosomes 1 and Y. Based on the cytoplasmic characteristics of the neoplastic cells, this type of carcinoma is classified as classic (typical) or eosinophilic. It has a much better prognosis than other renal cell carcinomas.
A type of carcinoma that comprises a minority of renal cell carcinomas. It is characterized by loss of chromosomes 1 and Y. Based on the cytoplasmic characteristics of the neoplastic cells, this type of carcinoma is classified as classic (typical) or eosinophilic. It has a much better prognosis than other renal cell carcinomas.[accessedResource: NCIt:C4146][accessDate: 05-04-2011]
Chromophobe Carcinoma of the Kidney[accessedResource: NCIt:C4146][accessDate: 05-04-2011]
Chromophobe Cell Carcinoma of Kidney[accessedResource: NCIt:C4146][accessDate: 05-04-2011]
Chromophobe Cell Carcinoma of the Kidney
Chromophobe Cell Carcinoma of the Kidney[accessedResource: NCIt:C4146][accessDate: 05-04-2011]
Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery.
Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery.[accessedResource: DOID:4471][accessDate: 05-04-2011]
Chromophobe carcinoma (morphologic abnormality)
Chromophobe carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:1443001][accessDate: 05-04-2011]
Chromophobe carcinoma of kidney[accessedResource: DOID:4471][accessDate: 05-04-2011]
Chromophobe carcinoma[accessedResource: SNOMEDCT:1443001][accessDate: 05-04-2011]
Chromophobe cell renal carcinoma[accessedResource: SNOMEDCT:128667008][accessDate: 05-04-2011]
Renal Cell Carcinoma, Chromophobe Type[accessedResource: NCIt:C4146][accessDate: 05-04-2011]
Renal cell carcinoma, chromophobe cell (morphologic abnormality)
Renal cell carcinoma, chromophobe cell (morphologic abnormality)[accessedResource: SNOMEDCT:128667008][accessDate: 05-04-2011]
Renal cell carcinoma, chromophobe cell[accessedResource: SNOMEDCT:128667008][accessDate: 05-04-2011]
chromophobe adenocarcinoma[accessedResource: DOID:4471][accessDate: 05-04-2011]
An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.
ChromosomalAberration[accessedResource: MO_78][accessDate: 05-04-2011]
A stomach disease that is an inflammation of the lining of the stomach.[accessedResource: DOID:4032][accessDate: 05-04-2011]
CG - Chronic gastritis[accessedResource: SNOMEDCT:8493009][accessDate: 05-04-2011]
Chronic gastritis NOS[accessedResource: SNOMEDCT:196736000][accessDate: 05-04-2011]
Chronic gastritis, NOS[accessedResource: SNOMEDCT:8493009][accessDate: 05-04-2011]
Erosive Gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011]
Erosive gastropathy (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
GASTRITIS HEMORRHAGIC[accessedResource: DOID:4032][accessDate: 05-04-2011]
Gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
Gastritis [Ambiguous][accessedResource: DOID:4032][accessDate: 05-04-2011]
Gastritis unspecified (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
Hemorrhagic Gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011]
Idiopathic erosive/hemorrhagic gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
Other specified gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
Other specified gastritis NOS (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
Other specified gastritis, with hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011]
Other specified gastritis, without mention of hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011]
Other specified gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute gastric mucosal erosion (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute gastritis with hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute gastritis without mention of hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute gastritis, with hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute gastritis, without mention of hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute haemorrhagic gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute hemorrhagic gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
acute hemorrhagic gastritis [dup] (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
chronic gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
chronic gastritis NOS (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011]
gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011]
A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation.
A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation.[accessedResource: MSH:D006105][accessDate: 05-04-2011]
Bridges-Good syndrome[accessedResource: DOID:3265][accessDate: 05-04-2011]
CGD - Chronic granulomatous disease[accessedResource: SNOMEDCT:387759001][accessDate: 05-04-2011]
CGD[accessedResource: NCIt:C26788][accessDate: 05-04-2011]
Chronic Granulomatous Diseases[accessedResource: MSH:D006105][accessDate: 05-04-2011]
Chronic granulomatous disease (disorder)
Chronic granulomatous disease (disorder)[accessedResource: SNOMEDCT:387759001][accessDate: 05-04-2011]
Congenital dysphagocytosis (disorder)[accessedResource: SNOMEDCT:191352003][accessDate: 05-04-2011]
Congenital dysphagocytosis[accessedResource: SNOMEDCT:191352003][accessDate: 05-04-2011]
Disease, Chronic Granulomatous[accessedResource: MSH:D006105][accessDate: 05-04-2011]
Diseases, Chronic Granulomatous[accessedResource: MSH:D006105][accessDate: 05-04-2011]
GRANULOMATOUS DIS CHRONIC[accessedResource: MSH:D006105][accessDate: 05-04-2011]
Granulomatous Disease, Chronic[accessedResource: MSH:D006105][accessDate: 05-04-2011]
Granulomatous Diseases, Chronic[accessedResource: MSH:D006105][accessDate: 05-04-2011]
Quie syndrome[accessedResource: DOID:3265][accessDate: 05-04-2011]
chronic granulomatous disorder[accessedResource: DOID:3265][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_176' instead. New Label : Chronic granulomatous disease
CML - chronic Myelogenous Leukemia[accessedResource: DOID:8552][accessDate: 05-04-2011]
CML in Remission[accessedResource: DOID:8552][accessDate: 05-04-2011]
CML[accessedResource: DOID:8552][accessDate: 05-04-2011]
Chronic Granulocytic Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Chronic Granulocytic Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Chronic Myelocytic Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Chronic Myelocytic Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Chronic Myelogenous Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Chronic Myeloid Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Chronic Myeloid Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.
Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Granulocytic Leukemia, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Granulocytic Leukemias, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
LEUKEMIA PHILA POS[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Chronic Granulocytic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Chronic Myelocytic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Chronic Myelogenous[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Chronic Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Granulocytic, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myelocytic, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Leukemia, Myelogenous, Chronic, BCR-ABL Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myelogenous, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myelogenous, Ph1 Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myelogenous, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myeloid, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myeloid, Ph1 Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myeloid, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myeloid, Philadelphia Positive
Leukemia, Myeloid, Philadelphia Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Myeloid, Philadelphia-Positive
Leukemia, Myeloid, Philadelphia-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Ph1-Positive Myelogenous[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Ph1-Positive Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemia, Philadelphia-Positive Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemias, Chronic Granulocytic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemias, Chronic Myelocytic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemias, Chronic Myelogenous[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemias, Chronic Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemias, Ph1-Positive Myelogenous[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemias, Ph1-Positive Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Leukemias, Philadelphia-Positive Myeloid
Leukemias, Philadelphia-Positive Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myelocytic Leukemia, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myelocytic Leukemias, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myelogenous Leukemia, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myelogenous Leukemia, Ph1 Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myelogenous Leukemia, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myelogenous Leukemias, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myelogenous Leukemias, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myeloid Leukemia, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myeloid Leukemia, Ph1 Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myeloid Leukemia, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myeloid Leukemia, Philadelphia Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myeloid Leukemia, Philadelphia-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myeloid Leukemias, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myeloid Leukemias, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Myeloid Leukemias, Philadelphia-Positive
Myeloid Leukemias, Philadelphia-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Ph1-Positive Myelogenous Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Ph1-Positive Myelogenous Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Ph1-Positive Myeloid Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Ph1-Positive Myeloid Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Philadelphia-Positive Myeloid Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011]
Philadelphia-Positive Myeloid Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011]
chronic myelogenous leukemia, no ICD-O subtype (morphologic abnormality)
chronic myelogenous leukemia, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:8552][accessDate: 05-04-2011]
chronic myeloid leukaemia[accessedResource: DOID:8552][accessDate: 05-04-2011]
chronic myeloid leukemia NOS (disorder)[accessedResource: DOID:8552][accessDate: 05-04-2011]
chronic myeloid leukemia in remission (disorder)
chronic myeloid leukemia in remission (disorder)[accessedResource: DOID:8552][accessDate: 05-04-2011]
chronic myeloid leukemia in remission[accessedResource: DOID:8552][accessDate: 05-04-2011]
chronic myeloid leukemia without mention of remission
chronic myeloid leukemia without mention of remission[accessedResource: DOID:8552][accessDate: 05-04-2011]
chronic myeloid leukemia, disease (disorder)
chronic myeloid leukemia, disease (disorder)[accessedResource: DOID:8552][accessDate: 05-04-2011]
Obsolete: Duplication: use EFO_0000339 instead
A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.
A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.
A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.[accessedResource: MSH:D029424][accessDate: 05-04-2011]
A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.
Airflow Obstruction, Chronic[accessedResource: MSH:D029424][accessDate: 05-04-2011]
Airflow Obstructions, Chronic[accessedResource: MSH:D029424][accessDate: 05-04-2011]
CAFL - Chronic airflow limitation[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
CAL - Chronic airflow limitation[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
CAO - Chronic airflow obstruction[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
CHRONIC OBSTRUCTIVE AIRWAY DIS[accessedResource: MSH:D029424][accessDate: 05-04-2011]
CHRONIC OBSTRUCTIVE LUNG DIS[accessedResource: MSH:D029424][accessDate: 05-04-2011]
CHRONIC OBSTRUCTIVE PULM DIS[accessedResource: MSH:D029424][accessDate: 05-04-2011]
CHRONIC OBSTRUCTIVE PULMONARY DISEASE, (COPD)
CHRONIC OBSTRUCTIVE PULMONARY DISEASE, (COPD)[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
COAD - Chronic obstructive airways disease
COAD - Chronic obstructive airways disease[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
COAD[accessedResource: MSH:D029424][accessDate: 05-04-2011]
COLD (chronic obstructive lung disease)[accessedResource: DOID:3083][accessDate: 05-04-2011]
COLD - Chronic obstructive lung disease[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
COLD[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
COPD - Chronic obstructive pulmonary disease
COPD - Chronic obstructive pulmonary disease[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
COPD NOS[accessedResource: DOID:3083][accessDate: 05-04-2011]
COPD, CHRONIC OBSTRUCTIVE PULMONARY DISEASE
COPD, CHRONIC OBSTRUCTIVE PULMONARY DISEASE[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
COPD[accessedResource: DOID:3083][accessDate: 05-04-2011]
Chronic Airflow Obstruction[accessedResource: MSH:D029424][accessDate: 05-04-2011]
Chronic Airflow Obstructions[accessedResource: MSH:D029424][accessDate: 05-04-2011]
Chronic Obstructive Airway Disease[accessedResource: MSH:D029424][accessDate: 05-04-2011]
Chronic Obstructive Airways Disease[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
Chronic Obstructive Pulmonary Disease (COPD)
Chronic Obstructive Pulmonary Disease (COPD)[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
Chronic airflow limitation[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
Chronic airway disease[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
Chronic airway obstruction[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
Chronic irreversible airway obstruction[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
Chronic obstructive airways disease NOS[accessedResource: SNOMEDCT:196003006][accessDate: 05-04-2011]
Chronic obstructive lung disease, NEC[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
Chronic obstructive lung disease, NOS[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011]
Chronic obstructive pulmonary disease NOS
Chronic obstructive pulmonary disease NOS[accessedResource: SNOMEDCT:196003006][accessDate: 05-04-2011]
Chronic obstructive pulmonary disease finding
Chronic obstructive pulmonary disease finding (finding)
Chronic obstructive pulmonary disease finding (finding)[accessedResource: SNOMEDCT:413846005][accessDate: 05-04-2011]
Chronic obstructive pulmonary disease finding[accessedResource: SNOMEDCT:413846005][accessDate: 05-04-2011]
DISEASE (COPD), CHRONIC OBSTRUCTIVE[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC
OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
PULM DIS CHRONIC OBSTRUCTIVE[accessedResource: MSH:D029424][accessDate: 05-04-2011]
PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE
PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE[accessedResource: NCIt:C3199][accessDate: 05-04-2011]
Pulmonary Disease, Chronic Obstructive[accessedResource: MSH:D029424][accessDate: 05-04-2011]
chronic airway obstruction, NEC in ICD9CM_2006
chronic airway obstruction, not elsewhere classified
chronic obstructive airways disease NOS (disorder)
chronic obstructive airways disease NOS (disorder)[accessedResource: DOID:3083][accessDate: 05-04-2011]
chronic obstructive lung disease (disorder)
chronic obstructive lung disease (disorder)[accessedResource: DOID:3083][accessDate: 05-04-2011]
chronic obstructive lung disease [Ambiguous]
chronic obstructive lung disease [Ambiguous][accessedResource: DOID:3083][accessDate: 05-04-2011]
chronic obstructive lung disease[accessedResource: DOID:3083][accessDate: 05-04-2011]
chronic obstructive pulmonary disease and allied conditions
CP - Chronic pancreatitis[accessedResource: SNOMEDCT:235494005][accessDate: 05-04-2011]
Chronic pancreatitis (disorder)[accessedResource: SNOMEDCT:235494005][accessDate: 05-04-2011]
INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse.
INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse.[accessedResource: MSH:D050500][accessDate: 05-04-2011]
Pancreatitis, Chronic[accessedResource: MSH:D050500][accessDate: 05-04-2011]
Recurrent pancreatitis (disorder)[accessedResource: SNOMEDCT:233870001][accessDate: 05-04-2011]
Recurrent pancreatitis[accessedResource: SNOMEDCT:233870001][accessDate: 05-04-2011]
Relapsing pancreatitis (disorder)[accessedResource: SNOMEDCT:234689009][accessDate: 05-04-2011]
Relapsing pancreatitis[accessedResource: SNOMEDCT:233870001][accessDate: 05-04-2011]
chronic pancreatitis (disorder) [Ambiguous]
Use http://purl.obolibrary.org/obo/UBERON_0003027 label: cingulate cortex
Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when 2 distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut.
Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut.
Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut.[accessedResource: FBbt:00017015][accessDate: 05-04-2011]
circular visceral muscle primordium[accessedResource: FBbt:00017015][accessDate: 05-04-2011]
circular visceral muscle fiber[accessedResource: FBbt:00005072][accessDate: 05-04-2011]
A monoclonal B-cell lymphoproliferation in the vast majority of cases. It is characterized by a bimodal age distribution (15-30 years of life and late life) and is often associated with EBV infection. In less than 5% of cases it is a monoclonal proliferation of T-lymphocytes. Morphologically, it is characterized by the presence of Reed-Sternberg cells and mononuclear Hodgkin cells. The Reed-Sternberg and mononuclear Hodgkin cells are CD30 positive in nearly all cases and CD15 positive in the majority of cases.
Duplicate with Hodgkin's lymphoma (EFO_0000183)
An extrapolation into the future of data into a class with specified label.
A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.
A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.[accessedResource: NCIt:C3766][accessDate: 05-04-2011]
Adenocarcinoma, Clear Cell[accessedResource: MSH:D018262][accessDate: 05-04-2011]
Adenocarcinomas, Clear Cell[accessedResource: MSH:D018262][accessDate: 05-04-2011]
An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)
An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)[accessedResource: MSH:D018262][accessDate: 05-04-2011]
Cell Adenocarcinoma, Clear[accessedResource: MSH:D018262][accessDate: 05-04-2011]
Cell Adenocarcinomas, Clear[accessedResource: MSH:D018262][accessDate: 05-04-2011]
Clear Cell Adenocarcinomas[accessedResource: MSH:D018262][accessDate: 05-04-2011]
Clear cell adenocarcinoma (morphologic abnormality)
Clear cell adenocarcinoma (morphologic abnormality)[accessedResource: DOID:4468][accessDate: 05-04-2011]
Clear cell adenocarcinoma NOS (morphologic abnormality)
Clear cell adenocarcinoma NOS (morphologic abnormality)[accessedResource: DOID:4468][accessDate: 05-04-2011]
Clear cell adenocarcinoma, NOS[accessedResource: SNOMEDCT:30546008][accessDate: 05-04-2011]
Clear cell adenocarcinoma, mesonephroid[accessedResource: SNOMEDCT:30546008][accessDate: 05-04-2011]
Clear cell carcinoma[accessedResource: SNOMEDCT:30546008][accessDate: 05-04-2011]
Mesonephroid Clear Cell Carcinoma[accessedResource: NCIt:C3766][accessDate: 05-04-2011]
Mesonephroid clear cell adenocarcinoma[accessedResource: SNOMEDCT:30546008][accessDate: 05-04-2011]
[M]Clear cell adenocarcinoma NOS (morphologic abnormality)
[M]Clear cell adenocarcinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189633003][accessDate: 05-04-2011]
[M]Clear cell adenocarcinoma NOS[accessedResource: SNOMEDCT:189633003][accessDate: 05-04-2011]
A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.
A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney.
A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney.[accessedResource: DOID:4467][accessDate: 05-04-2011]
Clear Cell Adenocarcinoma of Kidney[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Clear Cell Adenocarcinoma of the Kidney[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Clear Cell Adenocarcinoma, Kidney[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Clear Cell Carcinoma of the Kidney[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Clear Cell Renal Cell Carcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Clear cell carcinoma of kidney (disorder)
Clear cell carcinoma of kidney (disorder)[accessedResource: DOID:4467][accessDate: 05-04-2011]
Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney.
Conventional (Clear Cell) Renal Cell Adenocarcinoma
Conventional (Clear Cell) Renal Cell Adenocarcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Grawitz Tumor[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Hypernephroma[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Kidney Clear Cell Adenocarcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Kidney Clear Cell Carcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Renal Clear Cell Adenocarcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
Renal Clear Cell Carcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011]
clear cell carcinoma of kidney[accessedResource: DOID:4467][accessDate: 05-04-2011]
conventional (Clear cell) renal cell carcinoma
conventional (Clear cell) renal cell carcinoma[accessedResource: DOID:4467][accessDate: 05-04-2011]
conventional renal cell carcinoma[accessedResource: DOID:4467][accessDate: 05-04-2011]
A clear cell sarcoma and sarcoma of kidney that can spread from the kidney to other organs.
A clear cell sarcoma and sarcoma of kidney that can spread from the kidney to other organs.[accessedResource: DOID:4880][accessDate: 05-04-2011]
A clear cell sarcoma that can spread from the kidney to other organs.
A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones.
A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones.[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
CCSK[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
Childhood Clear Cell Sarcoma of the Kidney
Childhood Clear Cell Sarcoma of the Kidney[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
Childhood Kidney Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
Childhood Renal Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
Clear Cell Sarcoma of Kidney[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
Clear cell sarcoma of kidney (morphologic abnormality)
Clear cell sarcoma of kidney (morphologic abnormality)[accessedResource: DOID:4880][accessDate: 05-04-2011]
Clear cell sarcoma of kidney (morphologic abnormality)[accessedResource: SNOMEDCT:24007003][accessDate: 05-04-2011]
Kidney Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
Pediatric Kidney Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
Pediatric Renal Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
Renal Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011]
[M] Clear cell sarcoma of kidney (morphologic abnormality)
[M] Clear cell sarcoma of kidney (morphologic abnormality)[accessedResource: SNOMEDCT:189813000][accessDate: 05-04-2011]
[M] Clear cell sarcoma of kidney[accessedResource: SNOMEDCT:189813000][accessDate: 05-04-2011]
A clincal factors is a biomaterial factor that concerns the observation, treatment or measurement of disease within subjects.
ClinicalHistory[accessedResource: MO_189][accessDate: 05-04-2011]
Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment.
The time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage.
A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy
clinical_treatment[accessedResource: MO_384][accessDate: 05-04-2011]
A division of the bony labyrinth of the inner ear of higher vertebrates that is usually coiled like a snail shell and is the seat of the hearing organ.
A division of the bony labyrinth of the inner ear of higher vertebrates that is usually coiled like a snail shell and is the seat of the hearing organ.[accessedResource: BTO:0000267][accessDate: 05-04-2011]
Cochlea[accessedResource: NCIt:C12395][accessDate: 05-04-2011]
Cochlear Organ[accessedResource: NCIt:C12395][accessDate: 05-04-2011]
Cochlear part of bony labyrinth[accessedResource: FMAID:60201][accessDate: 05-04-2011]
Cochlear[accessedResource: NCIt:C12395][accessDate: 05-04-2011]
The snail shell-shaped auditory component of the inner ear. It contains the sensory organ of hearing.
The snail shell-shaped auditory component of the inner ear. It contains the sensory organ of hearing.[accessedResource: NCIt:C12395][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001844 label: cochlea
A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.
A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.[accessedResource: DOID:2962][accessDate: 05-04-2011]
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.[accessedResource: MSH:D003057][accessDate: 05-04-2011]
An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.
An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.[accessedResource: NCIt:C9460][accessDate: 05-04-2011]
Caused by mutations of gene CKN1.[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Caused by mutations of gene ERCC6.[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome Type 3[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome Type C[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Group A[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Group B[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Group C[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Type A[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Type B[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Type C[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Type III[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Type II[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne Syndrome, Type I[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Cockayne syndrome (disorder)[accessedResource: SNOMEDCT:21086008][accessDate: 05-04-2011]
Cokayne syndrome[accessedResource: SNOMEDCT:21086008][accessDate: 05-04-2011]
Dwarfism-retinal atrophy-deafness syndrome
Dwarfism-retinal atrophy-deafness syndrome[accessedResource: SNOMEDCT:21086008][accessDate: 05-04-2011]
Group A Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Group B Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Group C Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Progeria Like Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Progeria-Like Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Progeria-Like Syndromes[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Syndrome, Cockayne[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Syndrome, Progeria-Like[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Type A Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Type B Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Type C Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore.
Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore.[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Type I Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Type II Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
Type III Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_638' instead. New Label : Cockayne syndrome
Duplicate with colorectal adenocarcinoma EFO_0000365
The part of the large intestine measured from the cecum to the rectum consisting of ascending, transverse, descending and sigmoid portions. The purpose of the colon is to remove water from digested food prior to excretion.
The part of the large intestine that extends from the cecum to the rectum.
The part of the large intestine that extends from the cecum to the rectum.[accessedResource: BTO:0000269][accessDate: 05-04-2011]
The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates.
The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates.[accessedResource: ZFA:0000706][accessDate: 05-04-2011]
posterior intestine[accessedResource: ZFA:0000706][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001155 label: colon
An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease.
Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma
A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004
An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.
An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colloid Adenocarcinoma of Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colloid Adenocarcinoma of the Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colloid Colon Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colloidal Adenocarcinoma of Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colloidal Adenocarcinoma of the Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colloidal Colon Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colon Colloid Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colon Colloidal Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colonic Colloid Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colonic Colloidal Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Colonic Mucinous Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Mucinous Adenocarcinoma of Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
Mucinous Colon Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011]
mucinous adenocarcinoma of the colon[accessedResource: DOID:3029][accessDate: 05-04-2011]
A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004[accessedResource: NCIt:C4910][accessDate: 05-04-2011]
Adenocarcinoma of the Colon[accessedResource: NCIt:C4349][accessDate: 05-04-2011]
An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease.[accessedResource: NCIt:C4349][accessDate: 05-04-2011]
COLORECTAL NEOPL[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Cancer, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Cancers, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Carcinoma of Colon[accessedResource: NCIt:C4910][accessDate: 05-04-2011]
Carcinoma of the Colon[accessedResource: NCIt:C4910][accessDate: 05-04-2011]
Carcinoma, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Carcinomas, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Colon Cancer[accessedResource: NCIt:C4910][accessDate: 05-04-2011]
Colonic Adenocarcinoma[accessedResource: NCIt:C4349][accessDate: 05-04-2011]
Colonic Carcinoma[accessedResource: NCIt:C4910][accessDate: 05-04-2011]
Colorectal Cancer[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Colorectal Cancers[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Colorectal Carcinoma[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Colorectal Carcinomas[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Colorectal Neoplasm[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Colorectal Neoplasms[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Colorectal Tumor[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Colorectal Tumors[accessedResource: MSH:D015179][accessDate: 05-04-2011]
NEOPL COLORECTAL[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Neoplasm, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Neoplasms, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Tumor, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.[accessedResource: MSH:D015179][accessDate: 05-04-2011]
Tumors, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011]
adenocarcinoma of colon[accessedResource: DOID:234][accessDate: 05-04-2011]
carcinoma of colon (disorder)[accessedResource: DOID:1520][accessDate: 05-04-2011]
colon adenocarcinoma[accessedResource: DOID:234][accessDate: 05-04-2011]
colon carcinoma[accessedResource: DOID:1520][accessDate: 05-04-2011]
obsolete_common variable immunodeficiency
A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).[accessedResource: DOID:12177][accessDate: 05-04-2011]
A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.
A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.[accessedResource: NCIt:C26725][accessDate: 05-04-2011]
Acquired Agammaglobulinemia[accessedResource: NCIt:C26725][accessDate: 05-04-2011]
Acquired Hypogammaglobulinemias[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Acquired hypogammaglobulinaemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
Acquired hypogammaglobulinemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
COMMON VARIABL IMMUNODEF[accessedResource: ICD9:279.06][accessDate: 05-04-2011]
COMMON VARIABLE IMMUNODEFIC[accessedResource: MSH:D017074][accessDate: 05-04-2011]
CVAG[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
CVI - Common variable immunodeficiency[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
CVID - Common variable immunodeficiency[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
CVID[accessedResource: DOID:12177][accessDate: 05-04-2011]
Common Variable Hypogammaglobulinemia[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Common Variable Hypogammaglobulinemias[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Common Variable Immunodeficiencies[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Common variable agammaglobulinaemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
Common variable agammaglobulinemia (disorder)
Common variable agammaglobulinemia (disorder)[accessedResource: DOID:12177][accessDate: 05-04-2011]
Common variable agammaglobulinemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
Common variable hypogammaglobulinaemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
Deficiencies, Late-Onset Immunoglobulin[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Deficiency, Late-Onset Immunoglobulin[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.
Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Hypogammaglobulinemia, Acquired[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Hypogammaglobulinemia, Common Variable[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Hypogammaglobulinemias, Acquired[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Hypogammaglobulinemias, Common Variable[accessedResource: MSH:D017074][accessDate: 05-04-2011]
IMMUNODEFIC COMMON VARIABLE[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Immunodeficiencies, Common Variable[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Immunodeficiency, Common Variable[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Immunoglobulin Deficiencies, Late-Onset[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Immunoglobulin Deficiency, Late Onset[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Immunoglobulin Deficiency, Late-Onset[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Late onset immunoglobulin deficiency[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011]
Late-Onset Immunoglobulin Deficiencies[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Late-Onset Immunoglobulin Deficiency[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Sporadic hypogammaglobulinemia[accessedResource: DOID:12177][accessDate: 05-04-2011]
Variable Hypogammaglobulinemia, Common[accessedResource: MSH:D017074][accessDate: 05-04-2011]
Variable Hypogammaglobulinemias, Common[accessedResource: MSH:D017074][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_3469' instead. New Label : Common variable immunodeficiency
minor histocompatibility congenic strain
A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene.
A treatment process in which a chemical compound is administered to the subject under investigation.
compound_based_treatment[accessedResource: MO_798][accessDate: 05-04-2011]
A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU
obsolete_congenital bilateral absence of the vas deferens
Congenital bilateral absence of the vas deferens (CAVD) is a condition in which the two vas deferens, male reproductive organs, fail to form properly prior to birth.
Wikipedia: http://en.wikipedia.org/wiki/Congenital_absence_of_the_vas_deferens
duplicate class with Congenital bilateral absence of vas deferens
A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.
Same as dilated cardiomyopathy EFO_0000407
1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.[accessedResource: MSH:D006333][accessDate: 05-04-2011]
CCF - Congestive cardiac failure[accessedResource: SNOMEDCT:42343007][accessDate: 05-04-2011]
CHF - Congestive heart failure[accessedResource: SNOMEDCT:42343007][accessDate: 05-04-2011]
CHF NOS[accessedResource: ICD9:428.0][accessDate: 05-04-2011]
CHF[accessedResource: DOID:395][accessDate: 05-04-2011]
Cardiac Failure Congestive[accessedResource: DOID:395][accessDate: 05-04-2011]
Cardiac Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Congestive cardiac failure[accessedResource: DOID:395][accessDate: 05-04-2011]
Congestive heart disease[accessedResource: SNOMEDCT:42343007][accessDate: 05-04-2011]
Congestive heart failure (disorder)[accessedResource: SNOMEDCT:42343007][accessDate: 05-04-2011]
Congestive heart failure, unspecified[accessedResource: ICD9:428.0][accessDate: 05-04-2011]
Congetive cardiac failure[accessedResource: DOID:395][accessDate: 05-04-2011]
Decompensation, Heart[accessedResource: MSH:D006333][accessDate: 05-04-2011]
FAILURE, CONGESTIVE HEART[accessedResource: NCIt:C3080][accessDate: 05-04-2011]
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.[accessedResource: NCIt:C3080][accessDate: 05-04-2011]
HEART FAILURE, CONGESTIVE[accessedResource: NCIt:C3080][accessDate: 05-04-2011]
Heart Decompensation[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart Failure, Left Sided[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart Failure, Left-Sided[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart Failure, Right Sided[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart Failure, Right-Sided[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs.
Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs.[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).
Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart failure involving the LEFT VENTRICLE.
Heart failure involving the LEFT VENTRICLE.[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Heart failure involving the RIGHT VENTRICLE.
Heart failure involving the RIGHT VENTRICLE.[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Left Sided Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Left-Sided Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Myocardial Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Right Sided Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011]
Right-Sided Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011]
A thin, transparent tissue divided into the palpebral conjunctiva (covering the inner side of the eye lid) and the bulbar conjunctiva (covering the eyeball).
A thin, transparent tissue divided into the palpebral conjunctiva (covering the inner side of the eye lid) and the bulbar conjunctiva (covering the eyeball).[accessedResource: NCIt:C12341][accessDate: 05-04-2011]
Conjunctiva[accessedResource: NCIt:C12341][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001811 label: conjunctiva
A process in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing.
control_spike_calibration[accessedResource: MO_364][accessDate: 05-04-2011]
obsolete_conventional clear cell renal carcinoma
A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.
duplicate of clear cell adenocarcinoma EFO_0000348
A dome-shaped, transparent, avascular tissue covering the front of the eye. It is composed of five layers: squamous epithelium, Bowman's membrane, stroma, Descemet's membrane, and endothelium. Refraction of light contributing to eye's focusing ability is its characteristic function. It contains unmyelinated nerve endings which are responsible for the high sensitivity of the tissue.
A dome-shaped, transparent, avascular tissue covering the front of the eye. It is composed of five layers: squamous epithelium, Bowman's membrane, stroma, Descemet's membrane, and endothelium. Refraction of light contributing to eye's focusing ability is its characteristic function. It contains unmyelinated nerve endings which are responsible for the high sensitivity of the tissue.[accessedResource: NCIt:C12342][accessDate: 05-04-2011]
The transparent part of the coat of the eyeball that covers the iris and pupil and admits light to the interior.
The transparent part of the coat of the eyeball that covers the iris and pupil and admits light to the interior.[accessedResource: BTO:0000286][accessDate: 05-04-2011]
cornea[accessedResource: BTO:0000286][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000964 label: cornea
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Arterioscleroses, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Arteriosclerosis, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Artery Disease, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Artery Diseases, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Atheroscleroses, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Atherosclerosis, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011]
CAD[accessedResource: NCIt:C26732][accessDate: 05-04-2011]
CORONARY ARTERY DIS[accessedResource: MSH:D003324][accessDate: 05-04-2011]
CORONARY DIS[accessedResource: MSH:D003327][accessDate: 05-04-2011]
CORONARY HEART DIS[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Coronary Arterioscleroses[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Coronary Arteriosclerosis[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Coronary Artery Diseases[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Coronary Atheroscleroses[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Coronary Atherosclerosis[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Coronary Disease[accessedResource: NCIt:C26732][accessDate: 05-04-2011]
Coronary Diseases[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Coronary Heart Disease[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Coronary Heart Diseases[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Disease, Coronary Artery[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Disease, Coronary Heart[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Disease, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Diseases, Coronary Artery[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Diseases, Coronary Heart[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Diseases, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Heart Disease, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Heart Diseases, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011]
Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.
Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.[accessedResource: NCIt:C26732][accessDate: 05-04-2011]
Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.
Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.[accessedResource: MSH:D003324][accessDate: 05-04-2011]
Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).
Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).[accessedResource: MSH:D003324][accessDate: 05-04-2011]
A neurosecretory organ forming part of the retrocerebral complex.
A neurosecretory organ forming part of the retrocerebral complex.[accessedResource: FBbt:00005800][accessDate: 05-04-2011]
One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone).
One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone).[accessedResource: BTO:0000291][accessDate: 05-04-2011]
The primordium that will form the embryonic/larval corpus allatum, a substructure of the embryonic/larval ring gland. It is a paired structure that becomes distinct in early dorsal closure between the head mesoderm and the epidermis of the gnathal segments. During dorsal closure the paired primordia move dorsally to meet and fuse above the cardioblasts of the developing aorta.
The primordium that will form the embryonic/larval corpus allatum, a substructure of the embryonic/larval ring gland. It is a paired structure that becomes distinct in early dorsal closure between the head mesoderm and the epidermis of the gnathal segments. During dorsal closure the paired primordia move dorsally to meet and fuse above the cardioblasts of the developing aorta.[accessedResource: FBbt:00001716][accessDate: 05-04-2011]
corpus allatum primordium[accessedResource: FBbt:00001716][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001057 label: corpus allatum
A pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain.
A pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain.[accessedResource: BTO:0000432][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001056 label: corpus cardiacum
Either of a pair of masses of nervous tissue within the brain that contain two large nuclei of gray matter separated by sheets of white matter.
Either of a pair of masses of nervous tissue within the brain that contain two large nuclei of gray matter separated by sheets of white matter.[accessedResource: BTO:0001311][accessDate: 05-04-2011]
Neostriatum[accessedResource: NIFSTD:birnlex_1672][accessDate: 05-04-2011]
Striate Body[accessedResource: NCIt:C12448][accessDate: 05-04-2011]
Striatum[accessedResource: NCIt:C12448][accessDate: 05-04-2011]
Striped gray and white matter consisting of the neostriatum and paleostriatum (globus pallidus). It is located in front of and lateral to the thalamus in each cerebral hemisphere. The gray substance is made up of the caudate nucleus and the lentiform nucleus. The white matter is the internal capsule. (MeSH)
Striped gray and white matter consisting of the neostriatum and paleostriatum (globus pallidus). It is located in front of and lateral to the thalamus in each cerebral hemisphere. The gray substance is made up of the caudate nucleus and the lentiform nucleus. The white matter is the internal capsule. (MeSH)[accessedResource: NCIt:C12448][accessDate: 05-04-2011]
caudate putamen[accessedResource: NIFSTD:birnlex_1672][accessDate: 05-04-2011]
dorsal striatum[accessedResource: NIFSTD:birnlex_1672][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000369 label: corpus striatum
Corpus[accessedResource: NCIt:C12316][accessDate: 05-04-2011]
The Corpus uteri, or body of uterus, is the part of the uterus above the isthmus, comprising about two thirds of the non-pregnant organ.
The Corpus uteri, or body of uterus, is the part of the uterus above the isthmus, comprising about two thirds of the non-pregnant organ.[accessedResource: NCIt:C12316][accessDate: 05-04-2011]
Uterine Body[accessedResource: NCIt:C12316][accessDate: 05-04-2011]
Uterus, corpus[accessedResource: NCIt:C12316][accessDate: 05-04-2011]
cortex is ambiguous as class under brain so removed
A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.
A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.[accessedResource: MSH:D003424][accessDate: 05-04-2011]
CROHN DIS[accessedResource: MSH:D003424][accessDate: 05-04-2011]
CROHNS DIS[accessedResource: MSH:D003424][accessDate: 05-04-2011]
Colitis, Granulomatous[accessedResource: MSH:D003424][accessDate: 05-04-2011]
Crohn Disease[accessedResource: MSH:D003424][accessDate: 05-04-2011]
Crohn's associated gastritis[accessedResource: DOID:4039][accessDate: 05-04-2011]
Crohns Disease[accessedResource: MSH:D003424][accessDate: 05-04-2011]
Enteritis, Granulomatous[accessedResource: MSH:D003424][accessDate: 05-04-2011]
Enteritis, Regional[accessedResource: MSH:D003424][accessDate: 05-04-2011]
Gastritis Associated with Crohn Disease[accessedResource: NCIt:C27837][accessDate: 05-04-2011]
Gastritis Associated with Crohn's Disease
Gastritis Associated with Crohn's Disease[accessedResource: NCIt:C27837][accessDate: 05-04-2011]
Ileitis, Regional[accessedResource: MSH:D003424][accessDate: 05-04-2011]
Ileitis, Terminal[accessedResource: MSH:D003424][accessDate: 05-04-2011]
Ileocolitis[accessedResource: MSH:D003424][accessDate: 05-04-2011]
A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species.
using strain to hang cultivar subclasses in future
The measure of movement of electrical charges in a conductor measured in milliamperes.
A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.
A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
Cutaneous malignant melanoma[accessedResource: SNOMEDCT:93655004][accessDate: 05-04-2011]
MAL MELANOM FACE NEC/NOS[accessedResource: ICD9:172.3][accessDate: 05-04-2011]
MALIG MELANOMA SKIN NEC[accessedResource: ICD9:172.8][accessDate: 05-04-2011]
MALIG MELANOMA SKIN NOS[accessedResource: ICD9:172.9][accessDate: 05-04-2011]
MM - Malignant melanoma of skin[accessedResource: SNOMEDCT:93655004][accessDate: 05-04-2011]
Malignant Cutaneous Melanoma[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
Malignant Melanoma (of Skin), Stage Unspecified
Malignant Melanoma (of Skin), Stage Unspecified[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
Malignant Melanoma of Skin Stage Unspecified
Malignant Melanoma of Skin Stage Unspecified[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
Malignant Melanoma of Skin[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
Malignant melanoma of other specified sites of skin
Malignant melanoma of other specified sites of skin[accessedResource: ICD9:172.8][accessDate: 05-04-2011]
Malignant melanoma of other specified skin site
Malignant melanoma of other specified skin site (disorder)
Malignant melanoma of other specified skin site (disorder)[accessedResource: SNOMEDCT:188080004][accessDate: 05-04-2011]
Malignant melanoma of other specified skin site[accessedResource: SNOMEDCT:188080004][accessDate: 05-04-2011]
Malignant melanoma of skin (disorder)[accessedResource: SNOMEDCT:93655004][accessDate: 05-04-2011]
Malignant melanoma of skin NOS (disorder)
Malignant melanoma of skin NOS (disorder)[accessedResource: SNOMEDCT:188082007][accessDate: 05-04-2011]
Malignant melanoma of skin NOS[accessedResource: SNOMEDCT:188082007][accessDate: 05-04-2011]
Malignant melanoma of skin of other and unspecified parts of face
Malignant melanoma of skin of other and unspecified parts of face[accessedResource: ICD9:172.3][accessDate: 05-04-2011]
Malignant melanoma of skin, NOS[accessedResource: SNOMEDCT:93655004][accessDate: 05-04-2011]
Melanoma of Skin[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
Melanoma of skin, site unspecified[accessedResource: ICD9:172.9][accessDate: 05-04-2011]
Melanoma of the Skin[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
Skin Melanoma[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
Skin, Melanoma[accessedResource: NCIt:C3510][accessDate: 05-04-2011]
[X]Malignant melanoma of skin, unspecified
[X]Malignant melanoma of skin, unspecified (disorder)
[X]Malignant melanoma of skin, unspecified (disorder)[accessedResource: SNOMEDCT:190105009][accessDate: 05-04-2011]
[X]Malignant melanoma of skin, unspecified[accessedResource: SNOMEDCT:190105009][accessDate: 05-04-2011]
A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003
A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.
A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.[accessedResource: NCIt:C2975][accessDate: 05-04-2011]
CF - Cystic fibrosis[accessedResource: SNOMEDCT:190905008][accessDate: 05-04-2011]
CF[accessedResource: SNOMEDCT:190905008][accessDate: 05-04-2011]
CYSTIC FIBROS W/O ILEUS[accessedResource: ICD9:277.00][accessDate: 05-04-2011]
Cystic fibrosis (disorder)[accessedResource: SNOMEDCT:190905008][accessDate: 05-04-2011]
Cystic fibrosis NOS (disorder)[accessedResource: SNOMEDCT:190911006][accessDate: 05-04-2011]
Cystic fibrosis NOS[accessedResource: SNOMEDCT:190911006][accessDate: 05-04-2011]
Cystic fibrosis without mention of meconium ileus
Cystic fibrosis without mention of meconium ileus[accessedResource: ICD9:277.00][accessDate: 05-04-2011]
Fibrocystic disease[accessedResource: SNOMEDCT:190905008][accessDate: 05-04-2011]
Meconium ileus in cystic fibrosis (disorder)
Meconium obstruction of intestine in mucoviscidosis
cystic fibrosis with combined manifestations
cystic fibrosis with gastrointestinal manifestations
cystic fibrosis with meconium ileus (disorder)
cystic fibrosis with other manifestations
cystic fibrosis with other manifestations (disorder)
cystic fibrosis with pulmonary manifestations
cystic fibrosis with pulmonary manifestations (disorder)
mucoviscidosis[accessedResource: DOID:1485][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_49' instead. New Label : Cystic fibrosis
A measurement of physical damage, e.g. by a caterpillar on a plant leaf
Physiological response to e.g. leaf's response to physical damage by a caterpillar on a plant leaf
leaf's response to physical damage by a caterpillar on a plant leaf
replaced by response to wounding, imported from GO
An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.
An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.[accessedResource: NCIt:C6476][accessDate: 05-04-2011]
Dedifferentiated chondrosarcoma (morphologic abnormality)
Dedifferentiated chondrosarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:128776008][accessDate: 05-04-2011]
A description of the method used to deliver e.g. a compound or solution for treatment.
DeliveryMethod[accessedResource: MO_223][accessDate: 05-04-2011]
A dermal neurofibroma is a neurofibroma that occurs in situ of the skin.
A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.
A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.[accessedResource: DOID:10223][accessDate: 05-04-2011]
A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)
A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Adult Type Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Adult Type Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Childhood Type Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Childhood Type Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011]
DM - Dermatomyositis[accessedResource: SNOMEDCT:396230008][accessDate: 05-04-2011]
Dermatomyositides, Adult Type[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Dermatomyositides, Childhood Type[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Dermatomyositis (disorder)[accessedResource: SNOMEDCT:396230008][accessDate: 05-04-2011]
Dermatomyositis, Adult Type[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Dermatomyositis, Childhood Type[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Dermatopolymyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Dermatopolymyositis, unspecified (disorder)
Dermatopolymyositis, unspecified[accessedResource: DOID:10223][accessDate: 05-04-2011]
Dermatopolymyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Polymyositis Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Polymyositis with skin involvement[accessedResource: DOID:10223][accessDate: 05-04-2011]
Polymyositis-Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Polymyositis-Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011]
Wagner-Unverricht syndrome[accessedResource: SNOMEDCT:396230008][accessDate: 05-04-2011]
[X]Dermatopolymyositis, unspecified (disorder)
[X]Dermatopolymyositis, unspecified (disorder)[accessedResource: SNOMEDCT:203795006][accessDate: 05-04-2011]
[X]Dermatopolymyositis, unspecified[accessedResource: SNOMEDCT:203795006][accessDate: 05-04-2011]
A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage
developmental_stage[accessedResource: MO_878][accessDate: 05-04-2011]
This branch will be replaced by, and if necessary merged with an Uberon import in future.
A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.[accessedResource: MSH:D003920][accessDate: 05-04-2011]
A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.[accessedResource: NCIt:C2985][accessDate: 05-04-2011]
DM - Diabetes mellitus[accessedResource: SNOMEDCT:73211009][accessDate: 05-04-2011]
Diabetes NOS[accessedResource: DOID:9351][accessDate: 05-04-2011]
Diabetes mellitus (disorder)[accessedResource: DOID:9351][accessDate: 05-04-2011]
Diabetes mellitus, NOS[accessedResource: SNOMEDCT:73211009][accessDate: 05-04-2011]
Diabetes[accessedResource: DOID:9351][accessDate: 05-04-2011]
Amyotrophies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Amyotrophy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Asymmetric Diabetic Proximal Motor Neuropathy
Asymmetric Diabetic Proximal Motor Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Asymmetric Polyneuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Asymmetric Polyneuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Autonomic Neuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Autonomic Neuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
DMII RENAL UNCNTRLD[accessedResource: ICD9:250.42][accessDate: 05-04-2011]
DMII RENL NT ST UNCNTRLD[accessedResource: ICD9:250.40][accessDate: 05-04-2011]
Diabetes mellitus type II [non-insulin dependent type] [NIDDM type] [adult-onset type] or unspecified type, not stated as uncontrolled, with renal manifestations
Diabetes mellitus type II [non-insulin dependent type] [NIDDM type] [adult-onset type] or unspecified type, not stated as uncontrolled, with renal manifestations[accessedResource: ICD9:250.40][accessDate: 05-04-2011]
Diabetes mellitus type II [non-insulin dependent type] [NIDDM type] [adult-onset type] or unspecified type, uncontrolled, with renal manifestations
Diabetes mellitus type II [non-insulin dependent type] [NIDDM type] [adult-onset type] or unspecified type, uncontrolled, with renal manifestations[accessedResource: ICD9:250.42][accessDate: 05-04-2011]
Diabetes with renal manifestations (disorder)
Diabetes with renal manifestations (disorder)[accessedResource: SNOMEDCT:21858001][accessDate: 05-04-2011]
Diabetes with renal manifestations[accessedResource: ICD9:250.4][accessDate: 05-04-2011]
Diabetes-nephrosis syndrome (disorder)[accessedResource: SNOMEDCT:54181000][accessDate: 05-04-2011]
Diabetes-nephrosis syndrome[accessedResource: SNOMEDCT:54181000][accessDate: 05-04-2011]
Diabetic Amyotrophies[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Amyotrophy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Asymmetric Polyneuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Asymmetric Polyneuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Autonomic Neuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Autonomic Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Glomerulosclerosis[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Diabetic Kidney Disease[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Diabetic Kidney Diseases[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Diabetic Mononeuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Mononeuropathy Simplex[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Mononeuropathy Simplices[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Mononeuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Nephropathies[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Diabetic Neuralgia[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Neuralgias[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Neuropathies, Painful[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Neuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Neuropathy, Painful[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Polyneuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic Polyneuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Diabetic renal disease (disorder)[accessedResource: SNOMEDCT:127013003][accessDate: 05-04-2011]
Diabetic renal disease[accessedResource: SNOMEDCT:127013003][accessDate: 05-04-2011]
Glomerulosclerosis, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Glomerulosclerosis, Nodular[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Intracapillary Glomerulosclerosis[accessedResource: MSH:D003928][accessDate: 05-04-2011]
KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.
KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Kidney Disease, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Kidney Diseases, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Kimmelstiel - Wilson disease[accessedResource: SNOMEDCT:197605007][accessDate: 05-04-2011]
Kimmelstiel Wilson Disease[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Kimmelstiel Wilson Syndrome[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Kimmelstiel-Wilson Disease[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Kimmelstiel-Wilson Syndrome[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Mononeuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Mononeuropathy Simplex, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Mononeuropathy Simplices, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Mononeuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Nephropathies, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Nephropathy, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Nephrotic syndrome in diabetes mellitus (disorder)
Nephrotic syndrome in diabetes mellitus (disorder)[accessedResource: SNOMEDCT:197605007][accessDate: 05-04-2011]
Nephrotic syndrome in diabetes mellitus[accessedResource: SNOMEDCT:197605007][accessDate: 05-04-2011]
Neuralgia, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Neuralgias, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Neuropathies, Diabetic Autonomic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Neuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Neuropathies, Painful Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Neuropathy, Diabetic Autonomic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Neuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Neuropathy, Painful Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Nodular Glomerulosclerosis[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Painful Diabetic Neuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Painful Diabetic Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)
Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Polyneuropathies, Diabetic Asymmetric[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Polyneuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Polyneuropathy, Diabetic Asymmetric[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Polyneuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Renal disorder associated with diabetes mellitus
Renal disorder associated with diabetes mellitus[accessedResource: SNOMEDCT:127013003][accessDate: 05-04-2011]
Simplex, Diabetic Mononeuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Simplices, Diabetic Mononeuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Symmetric Diabetic Proximal Motor Neuropathy
Symmetric Diabetic Proximal Motor Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011]
Syndrome, Kimmelstiel-Wilson[accessedResource: MSH:D003928][accessDate: 05-04-2011]
Adenocarcinoma of Linitis Plastica Type[accessedResource: NCIt:C9159][accessDate: 05-04-2011]
Adenocarcinoma of the Linitis Plastica Type
Adenocarcinoma of the Linitis Plastica Type[accessedResource: NCIt:C9159][accessDate: 05-04-2011]
An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.
An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.[accessedResource: NCIt:C9159][accessDate: 05-04-2011]
Diffuse Adenocarcinoma of Stomach[accessedResource: NCIt:C9159][accessDate: 05-04-2011]
Diffuse Adenocarcinoma of the Stomach[accessedResource: NCIt:C9159][accessDate: 05-04-2011]
Diffuse Stomach Adenocarcinoma[accessedResource: NCIt:C9159][accessDate: 05-04-2011]
A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma.
A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma.[accessedResource: NCIt:C8851][accessDate: 05-04-2011]
DIFFUSE LARGE LYMPHOMA[accessedResource: MSH:D016403][accessDate: 05-04-2011]
DLBCL[accessedResource: NCIt:C8851][accessDate: 05-04-2011]
Diffuse Histiocytic Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Diffuse Histiocytic Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Diffuse Large Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Diffuse Large-Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Diffuse Large-Cell Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Diffuse, Large B-Cell, Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Histiocytic Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Histiocytic Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Histiocytic Lymphomas, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Histiocytic Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011]
LARGE LYMPHOMA DIFFUSE[accessedResource: MSH:D016403][accessDate: 05-04-2011]
LARGE LYMPHOMA[accessedResource: MSH:D016403][accessDate: 05-04-2011]
LYMPHOMA DIFFUSE LARGE[accessedResource: MSH:D016403][accessDate: 05-04-2011]
LYMPHOMA LARGE DIFFUSE[accessedResource: MSH:D016403][accessDate: 05-04-2011]
LYMPHOMA LARGE[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Large Cell Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Large Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Large Lymphoid Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Large-Cell Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Large-Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Large-Cell Lymphomas, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Large-Cell Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Diffuse Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Diffuse Large Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Diffuse Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Histiocytic, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Large B-Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Large Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Large Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Large Lymphoid, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Large-Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphoma, Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphomas, Diffuse Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphomas, Diffuse Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphomas, Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Lymphomas, Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011]
Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.
Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.[accessedResource: MSH:D016403][accessDate: 05-04-2011]
A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.
A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Diffuse cutaneous scleroderma[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011]
Diffuse cutaneous systemic sclerosis[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011]
Diffuse systemic sclerosis[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011]
Progressive Scleroderma[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Progressive Systemic Sclerosis[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Scleroderma, Diffuse[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Scleroderma, Progressive[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Scleroderma, Sudden Onset[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Sclerodermas, Sudden Onset[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Sclerosis, Progressive Systemic[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Sudden Onset Scleroderma[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Sudden Onset Sclerodermas[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Systemic Sclerosis, Progressive[accessedResource: MSH:D045743][accessDate: 05-04-2011]
Systemic sclerosis, diffuse (disorder)[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011]
Systemic sclerosis, diffuse[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011]
Cholera Infantum[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN.
Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN.[accessedResource: MSH:D005767][accessDate: 05-04-2011]
DIGESTIVE SYSTEM DIS[accessedResource: MSH:D004066][accessDate: 05-04-2011]
DISEASES OF THE DIGESTIVE SYSTEM[accessedResource: ICD9:520-579.99][accessDate: 05-04-2011]
Digestive System Diseases[accessedResource: MSH:D004066][accessDate: 05-04-2011]
Digestive system diseases NOS (disorder)
Digestive system diseases NOS (disorder)[accessedResource: SNOMEDCT:197575000][accessDate: 05-04-2011]
Digestive system diseases NOS[accessedResource: SNOMEDCT:197575000][accessDate: 05-04-2011]
Disease of digestive system (disorder)[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011]
Disease of digestive system, NOS[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011]
Disease of digestive system[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011]
Disease, Digestive System[accessedResource: MSH:D004066][accessDate: 05-04-2011]
Disease, Gastrointestinal[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).
Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).[accessedResource: MSH:D004066][accessDate: 05-04-2011]
Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Diseases, Digestive System[accessedResource: MSH:D004066][accessDate: 05-04-2011]
Diseases, Gastrointestinal[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Disorder of digestive system (disorder)[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011]
Disorder of digestive system[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011]
Disorder, Functional Gastrointestinal[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Disorders, Functional Gastrointestinal[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Functional Gastrointestinal Disorder[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Functional Gastrointestinal Disorders[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Functional digestive disorders, not elsewhere classified
Functional digestive disorders, not elsewhere classified[accessedResource: ICD9:564][accessDate: 05-04-2011]
GASTROINTESTINAL DIS[accessedResource: MSH:D005767][accessDate: 05-04-2011]
GIT diseases[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011]
Gastrointestinal Disease[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Gastrointestinal Diseases[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Gastrointestinal Disorder, Functional[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Gastrointestinal Disorders, Functional[accessedResource: MSH:D005767][accessDate: 05-04-2011]
Gastrointestinal and digestive disorder[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011]
Infantum, Cholera[accessedResource: MSH:D005767][accessDate: 05-04-2011]
OTHER DISEASES OF DIGESTIVE SYSTEM[accessedResource: ICD9:570-579.99][accessDate: 05-04-2011]
OTHER DISEASES OF INTESTINES AND PERITONEUM
OTHER DISEASES OF INTESTINES AND PERITONEUM[accessedResource: ICD9:560-569.99][accessDate: 05-04-2011]
Other diseases of the intestines and peritoneum
Other diseases of the intestines and peritoneum (disorder)
Other diseases of the intestines and peritoneum (disorder)[accessedResource: SNOMEDCT:197043006][accessDate: 05-04-2011]
Other diseases of the intestines and peritoneum[accessedResource: SNOMEDCT:197043006][accessDate: 05-04-2011]
Other disorders of gallbladder[accessedResource: ICD9:575][accessDate: 05-04-2011]
Other disorders of intestine (disorder)[accessedResource: SNOMEDCT:197209006][accessDate: 05-04-2011]
Other disorders of intestine[accessedResource: ICD9:569][accessDate: 05-04-2011]
Other gallbladder disorders (disorder)[accessedResource: SNOMEDCT:197407006][accessDate: 05-04-2011]
Other gallbladder disorders NOS (disorder)
Other gallbladder disorders NOS (disorder)[accessedResource: SNOMEDCT:197435005][accessDate: 05-04-2011]
Other gallbladder disorders NOS[accessedResource: SNOMEDCT:197435005][accessDate: 05-04-2011]
Other gallbladder disorders[accessedResource: SNOMEDCT:197407006][accessDate: 05-04-2011]
Other intestinal disorders NOS (disorder)
Other intestinal disorders NOS (disorder)[accessedResource: SNOMEDCT:197264003][accessDate: 05-04-2011]
Other intestinal disorders NOS[accessedResource: SNOMEDCT:197264003][accessDate: 05-04-2011]
Other intestine disorders[accessedResource: SNOMEDCT:197209006][accessDate: 05-04-2011]
Other postoperative functional disorders
Other postoperative functional disorders[accessedResource: ICD9:564.4][accessDate: 05-04-2011]
Other specified disorders of rectum and anus
Other specified disorders of rectum and anus[accessedResource: ICD9:569.4][accessDate: 05-04-2011]
POSTOP GI FUNCT DIS NEC[accessedResource: ICD9:564.4][accessDate: 05-04-2011]
Pilosebaceous Nevoid disorder[accessedResource: DOID:27][accessDate: 05-04-2011]
RECTAL & ANAL DIS NEC[accessedResource: ICD9:569.49][accessDate: 05-04-2011]
System Disease, Digestive[accessedResource: MSH:D004066][accessDate: 05-04-2011]
System Diseases, Digestive[accessedResource: MSH:D004066][accessDate: 05-04-2011]
[X]Other diseases of intestines (disorder)
[X]Other diseases of intestines (disorder)[accessedResource: SNOMEDCT:197538005][accessDate: 05-04-2011]
[X]Other diseases of intestines[accessedResource: SNOMEDCT:197538005][accessDate: 05-04-2011]
[X]Other diseases of the digestive system
[X]Other diseases of the digestive system (disorder)
[X]Other diseases of the digestive system (disorder)[accessedResource: SNOMEDCT:197569009][accessDate: 05-04-2011]
[X]Other diseases of the digestive system[accessedResource: SNOMEDCT:197569009][accessDate: 05-04-2011]
[X]Other specified diseases of anus and rectum
[X]Other specified diseases of anus and rectum (disorder)
[X]Other specified diseases of anus and rectum (disorder)[accessedResource: SNOMEDCT:197543003][accessDate: 05-04-2011]
[X]Other specified diseases of anus and rectum[accessedResource: SNOMEDCT:197543003][accessDate: 05-04-2011]
acne nevus[accessedResource: DOID:27][accessDate: 05-04-2011]
nevus comedonicus (disorder)[accessedResource: DOID:27][accessDate: 05-04-2011]
A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.[accessedResource: MSH:D002311][accessDate: 05-04-2011]
An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.
An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.[accessedResource: DOID:12930][accessDate: 05-04-2011]
CCM - Congestive cardiomyopathy[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011]
COCM - Congestive cardiomyopathy[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011]
Cardiomyopathies, Congestive[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Cardiomyopathies, Dilated[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Cardiomyopathies, Familial Idiopathic[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Cardiomyopathy, Congestive[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Cardiomyopathy, Dilated, CMD1A[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Cardiomyopathy, Dilated, LMNA[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Cardiomyopathy, Dilated, with Conduction Deffect1
Cardiomyopathy, Dilated, with Conduction Deffect1[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Cardiomyopathy, Dilated[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Cardiomyopathy, Familial Idiopathic[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Congestive Cardiomyopathies[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Congestive Cardiomyopathy[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Congestive cardiomyopathy (disorder)[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011]
Congestive dilated cardiomyopathy[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011]
DCM - Dilated cardiomyopathy[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011]
Dilated Cardiomyopathies[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Familial Idiopathic Cardiomyopathies[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Familial Idiopathic Cardiomyopathy[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Idiopathic Cardiomyopathies, Familial[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Idiopathic Cardiomyopathy, Familial[accessedResource: MSH:D002311][accessDate: 05-04-2011]
Primary dilated cardiomyopathy (disorder)[accessedResource: SNOMEDCT:195021004][accessDate: 05-04-2011]
Primary dilated cardiomyopathy[accessedResource: SNOMEDCT:195021004][accessDate: 05-04-2011]
decreased function of the heart associated with cardiac enlargement and congestive heart failure
decreased function of the heart associated with cardiac enlargement and congestive heart failure[accessedResource: MP:0002795][accessDate: 05-04-2011]
primary dilated cardiomyopathy (disorder)
A disease is a disposition that describes states of disease associated with a particular sample and/or organism.
A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease.
The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer
disease_staging[accessedResource: MO_792][accessDate: 05-04-2011]
Duplicate with 'disease factor' EFO_0000408.
The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia
Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer.
time to development of distant metastases
The outer of the three germ layers of the embryo (the other two being mesoderm and endoderm). Ectoderm gives rise to epidermis and neural tissue.
The outer of the three germ layers of the embryo (the other two being mesoderm and endoderm). Ectoderm gives rise to epidermis and neural tissue.[accessedResource: BTO:0000315][accessDate: 05-04-2011]
dorsal ectoderm anlage[accessedResource: FBbt:00005428][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000924 label: ectoderm
dorsal ectoderm anlage in statu nascendi
dorsal ectodermal primordium[accessedResource: FBbt:00005527][accessDate: 05-04-2011]
Dorsal imaginal disc of the mesothorax. Precursor of dorsal mesothoracic structures of the adult including the postnotum, scutum, scutellum, wing, wing hinge and part of the notal plura.
Dorsal imaginal disc of the mesothorax. Precursor of dorsal mesothoracic structures of the adult including the postnotum, scutum, scutellum, wing, wing hinge and part of the notal plura.[accessedResource: FBbt:00001778][accessDate: 05-04-2011]
wing disc[accessedResource: FBbt:00001778][accessDate: 05-04-2011]
duplicate with wing disc - please use that http://www.ebi.ac.uk/efo/EFO_0001933
Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere.
Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere.[accessedResource: FBbt:00001779][accessDate: 05-04-2011]
haltere disc[accessedResource: FBbt:00001779][accessDate: 05-04-2011]
The total quantity or strength of a substance administered at one time.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Becker Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Childhood Muscular Dystrophy, Pseudohypertrophic
Childhood Muscular Dystrophy, Pseudohypertrophic[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Childhood Pseudohypertrophic Muscular Dystrophy
Childhood Pseudohypertrophic Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011]
DMD - Duchenne muscular dystrophy[accessedResource: SNOMEDCT:76670001][accessDate: 05-04-2011]
Duchenne Type Progressive Muscular Dystrophy
Duchenne Type Progressive Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Duchenne musc. dyst.[accessedResource: DOID:11723][accessDate: 05-04-2011]
Duchenne muscular dystrophy (disorder)[accessedResource: DOID:11723][accessDate: 05-04-2011]
Duchenne-Type Progressive Muscular Dystrophy
Duchenne-Type Progressive Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Dystrophies, Pseudohypertrophic Muscular
Dystrophies, Pseudohypertrophic Muscular[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Dystrophy, Becker Muscular[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Dystrophy, Duchenne Muscular[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Dystrophy, Pseudohypertrophic Muscular[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Muscular Dystrophies, Pseudohypertrophic
Muscular Dystrophies, Pseudohypertrophic[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Muscular Dystrophy, Becker[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Muscular Dystrophy, Childhood, Pseudohypertrophic
Muscular Dystrophy, Childhood, Pseudohypertrophic[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Muscular Dystrophy, Duchenne[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Muscular Dystrophy, Pseudohypertrophic, Childhood
Muscular Dystrophy, Pseudohypertrophic, Childhood[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Muscular Dystrophy, Pseudohypertrophic[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Progressive Muscular Dystrophy, Duchenne Type
Progressive Muscular Dystrophy, Duchenne Type[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Pseudohypertrophic Childhood Muscular Dystrophy
Pseudohypertrophic Childhood Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Pseudohypertrophic Muscular Dystrophies[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Pseudohypertrophic Muscular Dystrophy, Childhood
Pseudohypertrophic Muscular Dystrophy, Childhood[accessedResource: MSH:D020388][accessDate: 05-04-2011]
Pseudohypertrophic Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_13913' instead. New Label : Duchenne muscular dystrophy
A carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.
A carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.[accessedResource: NCIt:C4017][accessDate: 05-04-2011]
Duct Adenocarcinoma[accessedResource: NCIt:C4017][accessDate: 05-04-2011]
Duct Carcinoma[accessedResource: NCIt:C4017][accessDate: 05-04-2011]
Ductal Carcinoma of Breast[accessedResource: NCIt:C4017][accessDate: 05-04-2011]
Ductal Carcinoma of the Breast[accessedResource: NCIt:C4017][accessDate: 05-04-2011]
Ductal Carcinoma[accessedResource: NCIt:C4017][accessDate: 05-04-2011]
Infiltrating ductal carcinoma of breast[accessedResource: DOID:3008][accessDate: 05-04-2011]
Invasive ductal carcinoma, NST[accessedResource: DOID:3008][accessDate: 05-04-2011]
ductal breast carcinoma[accessedResource: DOID:3008][accessDate: 05-04-2011]
Duplicate with invasive ductal carcinoma (EFO_0000186)
A temporal measurement of the time between two specified points.
A biotype resulting from selection in a particular habitat, e.g. the A. thaliana Ecotype Ler
The early developmental stage that, through embryological development, ultimately becomes an adult individual. In plants, that portion of a seed that will form the growing seedling following germination; it has a radicle, apical meristem, and embryonic leaf or leaves.
The early developmental stage that, through embryological development, ultimately becomes an adult individual. In plants, that portion of a seed that will form the growing seedling following germination; it has a radicle, apical meristem, and embryonic leaf or leaves.[accessedResource: BTO:0001233][accessDate: 05-04-2011]
embryo[accessedResource: MAT:0000226][accessDate: 05-04-2011]
A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)
A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)[accessedResource: MSH:D018233][accessDate: 05-04-2011]
A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic.
A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic.[accessedResource: NCIt:C8971][accessDate: 05-04-2011]
Botryoid sarcoma[accessedResource: SNOMEDCT:14269005][accessDate: 05-04-2011]
ERMS[accessedResource: NCIt:C8971][accessDate: 05-04-2011]
Embryonal Rhabdomyosarcomas[accessedResource: MSH:D018233][accessDate: 05-04-2011]
Embryonal rhabdomyosarcoma (disorder)[accessedResource: SNOMEDCT:404051002][accessDate: 05-04-2011]
Embryonal rhabdomyosarcoma (morphologic abnormality)
Embryonal rhabdomyosarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:14269005][accessDate: 05-04-2011]
Embryonal rhabdomyosarcoma, pleomorphic[accessedResource: SNOMEDCT:14269005][accessDate: 05-04-2011]
Rhabdomyosarcoma, Embryonal[accessedResource: MSH:D018233][accessDate: 05-04-2011]
Rhabdomyosarcomas, Embryonal[accessedResource: MSH:D018233][accessDate: 05-04-2011]
Sarcoma botryoides[accessedResource: SNOMEDCT:14269005][accessDate: 05-04-2011]
Brain of the embryo.[accessedResource: FBbt:00001060][accessDate: 05-04-2011]
Embryonic structure from which the mushroom body is derived. The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral protocerebral tract (LTP). During stage 16, a second set of Kenyon cell fibers form a second tract, closely apposed to the first. By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis.
Embryonic structure from which the mushroom body is derived. The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral protocerebral tract (LTP). During stage 16, a second set of Kenyon cell fibers form a second tract, closely apposed to the first. By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis.[accessedResource: FBbt:00005508][accessDate: 05-04-2011]
The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral proto-cerebral tract (LTP). During stage 16, a second set of kenyon cell fibres form a second tract, closely apposed to the first. By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis.
mushroom body primordium[accessedResource: FBbt:00005508][accessDate: 05-04-2011]
embryonic central brain pars intercerebralis
A component of the embryonic/larval ring gland composed of a cluster of about 10 cells that sit medially on top of the aorta.
A component of the embryonic/larval ring gland composed of a cluster of about 10 cells that sit medially on top of the aorta.[accessedResource: FBbt:00001719][accessDate: 05-04-2011]
embryonic/larval corpus allatum[accessedResource: FBbt:00001719][accessDate: 05-04-2011]
The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland.
The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland.[accessedResource: FBbt:00001720][accessDate: 05-04-2011]
corpus cardiacum primordium[accessedResource: FBbt:00001720][accessDate: 05-04-2011]
Any ganglion mother cell (FBbt:00005149) that is part of some embryo (FBbt:00000052).
Any ganglion mother cell (FBbt:00005149) that is part of some embryo (FBbt:00000052).[accessedResource: FBbt:00001433][accessDate: 05-04-2011]
.[accessedResource: FBbt:00005629][accessDate: 05-04-2011]
gastric caecum primordium[accessedResource: FBbt:00005629][accessDate: 05-04-2011]
An anatomical structure that exists only before the organism is fully formed. In mammals, for example, a structure that exists only prior to the birth of the organism. This structure may be normal or abnormal.
An anatomical structure that exists only before the organism is fully formed. In mammals, for example, a structure that exists only prior to the birth of the organism. This structure may be normal or abnormal.[accessedResource: BTO:0000174][accessDate: 05-04-2011]
An embryonic specific part is an organism part which is specific to embryos.
Use http://purl.obolibrary.org/obo/UBERON_0002050 label: embryonic structure
obsolete_Emery-Dreifuss muscular dystrophy
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Autosomal Dominant Emery Dreifuss Muscular Dystrophy
Autosomal Dominant Emery Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Autosomal Recessive Emery Dreifuss Muscular Dystrophy
Autosomal Recessive Emery Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Benign scapuloperoneal muscular dystrophy with early contractures
Benign scapuloperoneal muscular dystrophy with early contractures[accessedResource: SNOMEDCT:111508004][accessDate: 05-04-2011]
EMD - Emery-Dreifuss muscular dystrophy[accessedResource: SNOMEDCT:111508004][accessDate: 05-04-2011]
Emery Dreifuss Muscular Dystrophy 2[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery Dreifuss Muscular Dystrophy, Autosomal Recessive
Emery Dreifuss Muscular Dystrophy, Autosomal Recessive[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery Dreifuss Muscular Dystrophy, X Linked
Emery Dreifuss Muscular Dystrophy, X Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery Dreifuss Syndrome[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery-Dreifuss Muscular Dystrophy 2[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive
Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery-Dreifuss Muscular Dystrophy, X-Linked
Emery-Dreifuss Muscular Dystrophy, X-Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery-Dreifuss Syndrome[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery-Dreifuss Type Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Emery-Dreifuss muscular dystrophy (disorder)
Emery-Dreifuss muscular dystrophy (disorder)[accessedResource: DOID:11726][accessDate: 05-04-2011]
Hauptmann Thannhauser Muscular Dystrophy
Hauptmann Thannhauser Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Hauptmann-Thannhauser Muscular Dystrophy
Hauptmann-Thannhauser Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Muscular Dystrophy, Emery Dreifuss[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Muscular Dystrophy, Emery-Dreifuss Type[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant
Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive
Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Muscular Dystrophy, Emery-Dreifuss, X-Linked
Muscular Dystrophy, Emery-Dreifuss, X-Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Muscular Dystrophy, Emery-Dreifuss[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Muscular Dystrophy, Scapuloperoneal[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Scapuloilioperoneal Atrophy with Cardiopathy
Scapuloilioperoneal Atrophy with Cardiopathy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Scapuloperoneal Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Scapuloperoneal Syndrome, X Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Scapuloperoneal Syndrome, X-Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011]
Scapuloperoneal muscular dystrophy (disorder)
Scapuloperoneal muscular dystrophy (disorder)[accessedResource: SNOMEDCT:129620000][accessDate: 05-04-2011]
X Linked Emery Dreifuss Muscular Dystrophy
X Linked Emery Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011]
X-Linked Scapuloperoneal Syndrome[accessedResource: MSH:D020389][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_59' instead. New Label : Emery-Dreifuss muscular dystrophy
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.[accessedResource: NCIt:C3348][accessDate: 05-04-2011]
EMPHYSEMA, PULMONARY[accessedResource: NCIt:C3348][accessDate: 05-04-2011]
Pulmonary Emphysema[accessedResource: NCIt:C3348][accessDate: 05-04-2011]
A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart).
A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart).[accessedResource: DOID:10314][accessDate: 05-04-2011]
Endocarditides, Infective[accessedResource: MSH:D004696][accessDate: 05-04-2011]
Endocarditides[accessedResource: MSH:D004696][accessDate: 05-04-2011]
Endocarditis (disorder)[accessedResource: SNOMEDCT:56819008][accessDate: 05-04-2011]
Endocarditis, Infective[accessedResource: MSH:D004696][accessDate: 05-04-2011]
Endocarditis, NOS[accessedResource: SNOMEDCT:56819008][accessDate: 05-04-2011]
Infective Endocarditides[accessedResource: MSH:D004696][accessDate: 05-04-2011]
Infective Endocarditis[accessedResource: MSH:D004696][accessDate: 05-04-2011]
Inflammation of the endocardium.[accessedResource: NCIt:C34582][accessDate: 05-04-2011]
Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening.
Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening.[accessedResource: MSH:D004696][accessDate: 05-04-2011]
Adenocarcinoma, Endometrioid[accessedResource: MSH:D018269][accessDate: 05-04-2011]
Adenocarcinomas, Endometrioid[accessedResource: MSH:D018269][accessDate: 05-04-2011]
An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.
An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.[accessedResource: MSH:D018269][accessDate: 05-04-2011]
An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.
An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.[accessedResource: NCIt:C3769][accessDate: 05-04-2011]
Carcinoma, Endometrioid[accessedResource: MSH:D018269][accessDate: 05-04-2011]
Carcinomas, Endometrioid[accessedResource: MSH:D018269][accessDate: 05-04-2011]
Endometrioid Adenocarcinomas[accessedResource: MSH:D018269][accessDate: 05-04-2011]
Endometrioid Carcinoma of Female Reproductive System[accessedResource: NCIt:C3769][accessDate: 05-04-2011]
Endometrioid Carcinoma of the Female Reproductive System
Endometrioid Carcinoma of the Female Reproductive System[accessedResource: NCIt:C3769][accessDate: 05-04-2011]
Endometrioid Carcinomas[accessedResource: MSH:D018269][accessDate: 05-04-2011]
Endometrioid adenocarcinoma[accessedResource: SNOMEDCT:30289006][accessDate: 05-04-2011]
Endometrioid carcinoma (morphologic abnormality)
Endometrioid carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:30289006][accessDate: 05-04-2011]
Endometrioid cystadenocarcinoma[accessedResource: SNOMEDCT:30289006][accessDate: 05-04-2011]
Female Reproductive Endometrioid Carcinoma
Female Reproductive Endometrioid Carcinoma[accessedResource: NCIt:C3769][accessDate: 05-04-2011]
endometrioid carcinoma of female Reproductive system
The external elements and conditions which surround, influence, and affect the life and development of an organism or population.
This should become a material entity with the role of environment
Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime
EnvironmentalStress[accessedResource: MO_227][accessDate: 05-04-2011]
change in temperature, change in watering regime
Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells
Loss of imprinting occurs in some tumour cells
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.[accessedResource: NCIt:C3020][accessDate: 05-04-2011]
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).[accessedResource: NIFSTD:birnlex_12718][accessDate: 05-04-2011]
A disorder characterized by recurrent seizures
A disorder characterized by recurrent seizures[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
EF - Epileptic fit[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
EP - Epilepsy[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
EPILEP NEC W/O INTR EPIL[accessedResource: ICD9:345.80][accessDate: 05-04-2011]
EPILEP NOS W/O INTR EPIL[accessedResource: ICD9:345.90][accessDate: 05-04-2011]
EPILEPSY NEC W INTR EPIL[accessedResource: ICD9:345.81][accessDate: 05-04-2011]
EPILEPSY NOS W INTR EPIL[accessedResource: ICD9:345.91][accessDate: 05-04-2011]
Epilectic attack, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epilepsy (disorder)[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epilepsy NOS (disorder)[accessedResource: SNOMEDCT:267593008][accessDate: 05-04-2011]
Epilepsy NOS[accessedResource: SNOMEDCT:267593008][accessDate: 05-04-2011]
Epilepsy and recurrent seizures[accessedResource: ICD9:345][accessDate: 05-04-2011]
Epilepsy, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epilepsy, unspecified, with intractable epilepsy
Epilepsy, unspecified, with intractable epilepsy[accessedResource: ICD9:345.91][accessDate: 05-04-2011]
Epilepsy, unspecified, without mention of intractable epilepsy
Epilepsy, unspecified, without mention of intractable epilepsy[accessedResource: ICD9:345.90][accessDate: 05-04-2011]
Epilepsy, unspecified[accessedResource: ICD9:345.9][accessDate: 05-04-2011]
Epileptic Seizure[accessedResource: NIFSTD:birnlex_12718][accessDate: 05-04-2011]
Epileptic attack, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic attack[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic convulsions, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic convulsions[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic disorder, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic disorder[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic fit[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
Epileptic fits, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic fits[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic seizure (finding)[accessedResource: SNOMEDCT:313307000][accessDate: 05-04-2011]
Epileptic seizures, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic seizures[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Epileptic[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011]
Generalised convulsion[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
Generalised fit[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
Generalised seizure[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
Generalized convulsion[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
Generalized fit[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
Generalized seizure (finding)[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
Generalized seizure[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011]
Other forms of epilepsy (disorder)[accessedResource: SNOMEDCT:193020001][accessDate: 05-04-2011]
Other forms of epilepsy NOS (disorder)[accessedResource: SNOMEDCT:193025006][accessDate: 05-04-2011]
Other forms of epilepsy NOS[accessedResource: SNOMEDCT:193025006][accessDate: 05-04-2011]
Other forms of epilepsy and recurrent seizures
Other forms of epilepsy and recurrent seizures[accessedResource: ICD9:345.8][accessDate: 05-04-2011]
Other forms of epilepsy, with intractable epilepsy
Other forms of epilepsy, with intractable epilepsy[accessedResource: ICD9:345.81][accessDate: 05-04-2011]
Other forms of epilepsy, without mention of intractable epilepsy
Other forms of epilepsy, without mention of intractable epilepsy[accessedResource: ICD9:345.80][accessDate: 05-04-2011]
Other forms of epilepsy[accessedResource: SNOMEDCT:193020001][accessDate: 05-04-2011]
Seizure Disorder[accessedResource: NIFSTD:birnlex_12718][accessDate: 05-04-2011]
Seizure disorder (disorder)[accessedResource: SNOMEDCT:128613002][accessDate: 05-04-2011]
[X]Other epilepsy (disorder)[accessedResource: SNOMEDCT:194491006][accessDate: 05-04-2011]
[X]Other epilepsy[accessedResource: SNOMEDCT:194491006][accessDate: 05-04-2011]
A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.
A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.[accessedResource: NCIt:C4025][accessDate: 05-04-2011]
Adenocarcinoma of esophagus[accessedResource: SNOMEDCT:276803003][accessDate: 05-04-2011]
Adenocarcinoma of oesophagus[accessedResource: SNOMEDCT:276803003][accessDate: 05-04-2011]
Adenocarcinoma of the Esophagus[accessedResource: NCIt:C4025][accessDate: 05-04-2011]
Esophagus Adenocarcinoma[accessedResource: NCIt:C4025][accessDate: 05-04-2011]
Oesophageal Adenocarcinoma NOS[accessedResource: NCIt:C4025][accessDate: 05-04-2011]
adenocarcinoma of esophagus (disorder)[accessedResource: DOID:4914][accessDate: 05-04-2011]
A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets.
A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets.[accessedResource: DOID:2224][accessDate: 05-04-2011]
A chronic myeloproliferative disorder that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. The cause is unknown. Median survival times of 10-15 years are commonly reported. (WHO, 2001)
A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. The cause is unknown. Median survival times of 10-15 years are commonly reported. (WHO, 2008)
A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. The cause is unknown. Median survival times of 10-15 years are commonly reported. (WHO, 2008)[accessedResource: NCIt:C3407][accessDate: 05-04-2011]
A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets.
A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets.[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Essential Thrombocytemia[accessedResource: NCIt:C3407][accessDate: 05-04-2011]
Essential Thrombocythemias[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Essential haemorrhagic thrombocythaemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011]
Essential hemorrhagic thrombocythemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011]
Essential thrombocythaemia (clinical disorder)
Essential thrombocythaemia (clinical disorder)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Essential thrombocythaemia (clinical)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Essential thrombocythaemia (disorder)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Essential thrombocythaemia[accessedResource: DOID:2224][accessDate: 05-04-2011]
Essential thrombocythemia (clinical disorder)
Essential thrombocythemia (clinical disorder)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Essential thrombocythemia (clinical)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Essential thrombocythemia (disorder)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Essential thrombocythemia (morphologic abnormality)
Essential thrombocythemia (morphologic abnormality)[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011]
Essential thrombocytosis[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Hemorrhagic Thrombocythemia[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Hemorrhagic Thrombocythemias[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Idiopathic Thrombocythemias[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Idiopathic haemorrhagic thrombocythaemia
Idiopathic haemorrhagic thrombocythaemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011]
Idiopathic hemorrhagic thrombocythemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011]
Idiopathic thrombocythaemia[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Idiopathic thrombocythemia[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
Primary Thrombocythemia[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Primary Thrombocythemias[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Thrombocythemia, Essential[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Thrombocythemia, Hemorrhagic[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Thrombocythemia, Idiopathic[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Thrombocythemia, Primary[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Thrombocythemias, Essential[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Thrombocythemias, Hemorrhagic[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Thrombocythemias, Idiopathic[accessedResource: MSH:D013920][accessDate: 05-04-2011]
Thrombocythemias, Primary[accessedResource: MSH:D013920][accessDate: 05-04-2011]
[M]Idiopathic thrombocythaemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011]
[M]Idiopathic thrombocythemia[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011]
primary Thrombocytosis[accessedResource: DOID:2224][accessDate: 05-04-2011]
An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism.
A temporal measurement of an occurrence of a metastasis measured from some defined time point such as diagnosis
created as a synonym of distant metastasis survival.
Is the survival of a subject (or group of subjects) measured from the date of diagnosis until locoregional or systemic recurrence, second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause.
Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness.
An experiment type is an experimental factor describing the area of technology that was used to perform an experiment.
This is no longer needed - use process or study design (if the design is for study).
experimental design refers to both observational and experimental (perturbational) studies. The organizing principles of the study including the relationships between assays and the steps taken to interpret the data.
The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke
Use of spiked in controls in a measurement of the spiked in external/internal ratio
A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.
A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.[accessedResource: NCIt:C48576][accessDate: 05-04-2011]
Extra-Adrenal Chromaffin Neoplasm[accessedResource: NCIt:C48576][accessDate: 05-04-2011]
Extra-Adrenal Chromaffinoma[accessedResource: NCIt:C48576][accessDate: 05-04-2011]
Extra-Adrenal Pheochromocytoma[accessedResource: NCIt:C48576][accessDate: 05-04-2011]
Extra-Adrenal Sympathetic Paraganglionic Neoplasm
Extra-Adrenal Sympathetic Paraganglionic Neoplasm[accessedResource: NCIt:C48576][accessDate: 05-04-2011]
Extraadrenal Pheochromocytoma[accessedResource: NCIt:C48576][accessDate: 05-04-2011]
The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction
obsolete_facioscapulohumeral muscular dystrophy
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Atrophies, Facioscapulohumeral[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Atrophy, Facioscapulohumeral[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Dystrophies, Facioscapulohumeral Muscular
Dystrophies, Facioscapulohumeral Muscular[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Dystrophies, Landouzy-Dejerine[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Dystrophy, Facioscapulohumeral Muscular[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Dystrophy, Landouzy-Dejerine[accessedResource: MSH:D020391][accessDate: 05-04-2011]
FMD - Facioscapulohumeral muscular dystrophy
FMD - Facioscapulohumeral muscular dystrophy[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011]
FSH - Facioscapulohumeral muscular dystrophy
FSH - Facioscapulohumeral muscular dystrophy[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011]
FSHD - Facioscapulohumeral muscular dystrophy
FSHD - Facioscapulohumeral muscular dystrophy[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011]
Facioscapulohumeral Atrophies[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Facioscapulohumeral Atrophy[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Facioscapulohumeral Muscular Dystrophies
Facioscapulohumeral Muscular Dystrophies[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Facioscapulohumeral Type Progressive Muscular Dystrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Facioscapulohumeral muscular dystrophy (disorder)
Facioscapulohumeral muscular dystrophy (disorder)[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011]
Fascioscapulohumeral muscular dystrophy[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011]
Landouzy Dejerine Dystrophy[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Landouzy Dejerine muscular dystrophy[accessedResource: DOID:11727][accessDate: 05-04-2011]
Landouzy-Dejerine Dystrophies[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Landouzy-Dejerine Dystrophy[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Landouzy-Dejerine muscular dystrophy[accessedResource: DOID:11727][accessDate: 05-04-2011]
Muscular Dystrophies, Facioscapulohumeral
Muscular Dystrophies, Facioscapulohumeral[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Muscular Dystrophy, Facioscapulohumeral[accessedResource: MSH:D020391][accessDate: 05-04-2011]
Muscular dystrophy, Landouzy-Dejerine[accessedResource: DOID:11727][accessDate: 05-04-2011]
Progressive Muscular Dystrophy, Facioscapulohumeral Type
Progressive Muscular Dystrophy, Facioscapulohumeral Type[accessedResource: MSH:D020391][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_62' instead. New Label : Facioscapulohumeral dystrophy
obsolete_familial combined hyperlipidemia
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Combined Hyperlipidemia, Familial[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Combined Hyperlipidemias, Familial[accessedResource: MSH:D006950][accessDate: 05-04-2011]
FCHL - Familial combined hyperlipidaemia
FCHL - Familial combined hyperlipidaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
FCHL - Familial combined hyperlipidemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
Familial Combined Hyperlipidemias[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Familial combined hyperlipidaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
Familial hyperlipoproteinaemia type IIb[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
Familial hyperlipoproteinemia type IIb[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
Familial multiple lipoprotein-type hyperlipidaemia
Familial multiple lipoprotein-type hyperlipidaemia[accessedResource: SNOMEDCT:299465007][accessDate: 05-04-2011]
Familial multiple lipoprotein-type hyperlipidemia
Familial multiple lipoprotein-type hyperlipidemia[accessedResource: SNOMEDCT:299465007][accessDate: 05-04-2011]
Fredrickson type IIb hyperlipoproteinaemia
Fredrickson type IIb hyperlipoproteinaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
Fredrickson type IIb hyperlipoproteinemia
Fredrickson type IIb hyperlipoproteinemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
Hyperapobetalipoproteinaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
Hyperapobetalipoproteinemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011]
Hyperlipidemia, Familial Combined[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Hyperlipidemia, Multiple Lipoprotein Type
Hyperlipidemia, Multiple Lipoprotein Type[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Hyperlipidemia, Multiple Lipoprotein-Type
Hyperlipidemia, Multiple Lipoprotein-Type[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Hyperlipidemias, Familial Combined[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Hyperlipidemias, Multiple Lipoprotein-Type
Hyperlipidemias, Multiple Lipoprotein-Type[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Lipoprotein-Type Hyperlipidemia, Multiple
Lipoprotein-Type Hyperlipidemia, Multiple[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Lipoprotein-Type Hyperlipidemias, Multiple
Lipoprotein-Type Hyperlipidemias, Multiple[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Mixed hyperlipidemia[accessedResource: ICD9:272.2][accessDate: 05-04-2011]
Multiple Lipoprotein-Type Hyperlipidemia
Multiple Lipoprotein-Type Hyperlipidemia[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Multiple Lipoprotein-Type Hyperlipidemias
Multiple Lipoprotein-Type Hyperlipidemias[accessedResource: MSH:D006950][accessDate: 05-04-2011]
Multiple-type hyperlipidaemia[accessedResource: SNOMEDCT:267434003][accessDate: 05-04-2011]
Multiple-type hyperlipidemia[accessedResource: SNOMEDCT:267434003][accessDate: 05-04-2011]
duplicate of class http://www.orphanet.org/rdfns#pat_id_11237
familial combined hyperlipidemia (disorder)
familial combined hyperlipidemia (disorder) [Ambiguous]
familial combined hyperlipidemia (disorder) [Ambiguous][accessedResource: DOID:13809][accessDate: 05-04-2011]
familial combined hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011]
familial multiple lipoprotein-type hyperlipidemia (disorder)
familial multiple lipoprotein-type hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011]
hyperbetalipoproteinemia with prebetalipoproteinemia
hyperbetalipoproteinemia with prebetalipoproteinemia[accessedResource: DOID:13809][accessDate: 05-04-2011]
mixed hyperlipidaemia[accessedResource: DOID:13809][accessDate: 05-04-2011]
mixed hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011]
type IIb hyperlipoproteinemia[accessedResource: DOID:13809][accessDate: 05-04-2011]
Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history.
FamilyHistory[accessedResource: MO_59][accessDate: 05-04-2011]
The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification
feature_extraction[accessedResource: MO_928][accessDate: 05-04-2011]
FET GROWTH RET 2500+G[accessedResource: ICD9:764.99][accessDate: 05-04-2011]
FET GROWTH RET 500-749G[accessedResource: ICD9:764.92][accessDate: 05-04-2011]
FET GROWTH RET 750-999G[accessedResource: ICD9:764.93][accessDate: 05-04-2011]
FET GROWTH RETARD <500G[accessedResource: ICD9:764.91][accessDate: 05-04-2011]
FET GROWTH RETARD WTNOS[accessedResource: ICD9:764.90][accessDate: 05-04-2011]
FET GRWTH RET 1000-1249G[accessedResource: ICD9:764.94][accessDate: 05-04-2011]
FET GRWTH RET 1250-1499G[accessedResource: ICD9:764.95][accessDate: 05-04-2011]
FET GRWTH RET 1500-1749G[accessedResource: ICD9:764.96][accessDate: 05-04-2011]
FET GRWTH RET 1750-1999G[accessedResource: ICD9:764.97][accessDate: 05-04-2011]
FET GRWTH RET 2000-2499G[accessedResource: ICD9:764.98][accessDate: 05-04-2011]
FGR - Fetal growth retardation[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Fetal growth retardation (disorder)[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Fetal growth retardation NOS (disorder)[accessedResource: SNOMEDCT:268815007][accessDate: 05-04-2011]
Fetal growth retardation NOS[accessedResource: SNOMEDCT:268815007][accessDate: 05-04-2011]
Fetal growth retardation, NOS[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Fetal growth retardation, unspecified [weight]
Fetal growth retardation, unspecified [weight][accessedResource: ICD9:764.90][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, 1,000-1,249 grams
Fetal growth retardation, unspecified, 1,000-1,249 grams[accessedResource: ICD9:764.94][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, 1,250-1,499 grams
Fetal growth retardation, unspecified, 1,250-1,499 grams[accessedResource: ICD9:764.95][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, 1,500-1,749 grams
Fetal growth retardation, unspecified, 1,500-1,749 grams[accessedResource: ICD9:764.96][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, 1,750-1,999 grams
Fetal growth retardation, unspecified, 1,750-1,999 grams[accessedResource: ICD9:764.97][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, 2,000-2,499 grams
Fetal growth retardation, unspecified, 2,000-2,499 grams[accessedResource: ICD9:764.98][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, 2,500+ grams
Fetal growth retardation, unspecified, 2,500+ grams[accessedResource: ICD9:764.99][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, 500-749 grams
Fetal growth retardation, unspecified, 500-749 grams[accessedResource: ICD9:764.92][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, 750-999 grams
Fetal growth retardation, unspecified, 750-999 grams[accessedResource: ICD9:764.93][accessDate: 05-04-2011]
Fetal growth retardation, unspecified, less than 500 grams
Fetal growth retardation, unspecified, less than 500 grams[accessedResource: ICD9:764.91][accessDate: 05-04-2011]
Fetal growth retardation, unspecified[accessedResource: ICD9:764.9][accessDate: 05-04-2011]
Fetal growth retardation[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Foetal growth retardation, NOS[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
IUGR - Intrauterine growth retardation[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Intrauterine growth retardation, NOS[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Intrauterine growth retardation[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Microsomia[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Microsomic baby[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Poor fetal growth state[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
Poor fetal growth[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011]
A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.
A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.[accessedResource: C3042][accessDate: 05-04-2011]
A benign epithelial tumor with a glandular organization.
A benign epithelial tumor with a glandular organization.[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenoma, Basal Cell[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenoma, Follicular[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenoma, Microcystic[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenoma, Monomorphic[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenoma, Papillary[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenoma, Trabecular[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenomas, Basal Cell[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenomas, Follicular[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenomas, Microcystic[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenomas, Monomorphic[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenomas, Papillary[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenomas, Trabecular[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Basal Cell Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Basal Cell Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Follicular Adenoma of Thyroid Gland[accessedResource: NCIt:C3684][accessDate: 05-04-2011]
Follicular Adenoma of Thyroid[accessedResource: NCIt:C3684][accessDate: 05-04-2011]
Follicular Adenoma of the Thyroid Gland[accessedResource: NCIt:C3684][accessDate: 05-04-2011]
Follicular Adenoma of the Thyroid[accessedResource: NCIt:C3684][accessDate: 05-04-2011]
Follicular Adenoma[accessedResource: NCIt:C3684][accessDate: 05-04-2011]
Follicular Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Follicular adenoma (morphologic abnormality)
Follicular adenoma (morphologic abnormality)[accessedResource: DOID:6204][accessDate: 05-04-2011]
Microcystic Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Microcystic Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Monomorphic Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Monomorphic Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Papillary Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Papillary Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Thyroid Gland Follicular Adenoma[accessedResource: NCIt:C3684][accessDate: 05-04-2011]
Thyroid follicular adenoma (disorder)[accessedResource: SNOMEDCT:255034006][accessDate: 05-04-2011]
Thyroid follicular adenoma[accessedResource: SNOMEDCT:255034006][accessDate: 05-04-2011]
Trabecular Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011]
Trabecular Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011]
A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide (MeSH).
A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide (MeSH).[accessedResource: NIFSTD:birnlex_12617][accessDate: 05-04-2011]
A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.
A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.[accessedResource: NCIt:C3049][accessDate: 05-04-2011]
Gangliocytoma[accessedResource: NIFSTD:birnlex_12617][accessDate: 05-04-2011]
Ganglioneuroma (Schwannian Stroma-Dominant)
Ganglioneuroma (Schwannian Stroma-Dominant)[accessedResource: NCIt:C3049][accessDate: 05-04-2011]
A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterise the thyroid gland papillary carcinoma are absent. It is linked to radiation and comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound and fine needle biopsy. Treatment options include: partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.
A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterise the thyroid gland papillary carcinoma are absent. It is linked to radiation and comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound and fine needle biopsy. Treatment options include: partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Adenocarcinomas, Follicular[accessedResource: MSH:D018263][accessDate: 05-04-2011]
An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). (NCI05)
An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). (NCI05)[accessedResource: NCIt:C27380][accessDate: 05-04-2011]
An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)
An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)[accessedResource: MSH:D018263][accessDate: 05-04-2011]
FTC - Follicular thyroid carcinoma[accessedResource: SNOMEDCT:255028004][accessDate: 05-04-2011]
Follicular Adenocarcinoma[accessedResource: MSH:D018263][accessDate: 05-04-2011]
Follicular Adenocarcinomas[accessedResource: MSH:D018263][accessDate: 05-04-2011]
Follicular Cancer of Thyroid Gland[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Cancer of Thyroid[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Cancer of the Thyroid Gland[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Cancer of the Thyroid[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Carcinoma of Thyroid Gland[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Carcinoma of Thyroid[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Carcinoma of the Thyroid Gland[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Carcinoma of the Thyroid[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Thyroid Cancer[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular Thyroid Gland Carcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Follicular adenocarcinoma (morphologic abnormality)
Follicular adenocarcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:5257006][accessDate: 05-04-2011]
Follicular adenocarcinoma - well differentiated
Follicular adenocarcinoma - well differentiated[accessedResource: SNOMEDCT:28173006][accessDate: 05-04-2011]
Follicular adenocarcinoma, NOS[accessedResource: SNOMEDCT:5257006][accessDate: 05-04-2011]
Follicular adenocarcinoma, well differentiated
Follicular adenocarcinoma, well differentiated (morphologic abnormality)
Follicular adenocarcinoma, well differentiated (morphologic abnormality)[accessedResource: DOID:3962][accessDate: 05-04-2011]
Follicular adenocarcinoma, well differentiated[accessedResource: SNOMEDCT:28173006][accessDate: 05-04-2011]
Follicular carcinoma - well differentiated
Follicular carcinoma - well differentiated[accessedResource: SNOMEDCT:28173006][accessDate: 05-04-2011]
Follicular carcinoma of the Thyroid gland
Follicular carcinoma, NOS[accessedResource: SNOMEDCT:5257006][accessDate: 05-04-2011]
Follicular carcinoma, well differentiated
Follicular carcinoma, well differentiated[accessedResource: SNOMEDCT:28173006][accessDate: 05-04-2011]
Follicular carcinoma[accessedResource: SNOMEDCT:5257006][accessDate: 05-04-2011]
Follicular thyroid carcinoma (disorder)[accessedResource: DOID:3962][accessDate: 05-04-2011]
Thyroid Adenocarcinoma[accessedResource: NCIt:C27380][accessDate: 05-04-2011]
Thyroid Follicular Carcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Thyroid Gland Adenocarcinoma[accessedResource: NCIt:C27380][accessDate: 05-04-2011]
Thyroid Gland Follicular Carcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Well-Differentiated Follicular Adenocarcinoma
Well-Differentiated Follicular Adenocarcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
Well-Differentiated Follicular Carcinoma
Well-Differentiated Follicular Carcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011]
[M]Follicular adenocarcinoma NOS (morphologic abnormality)
[M]Follicular adenocarcinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189642005][accessDate: 05-04-2011]
[M]Follicular adenocarcinoma NOS[accessedResource: SNOMEDCT:189642005][accessDate: 05-04-2011]
[M]Follicular carcinoma[accessedResource: SNOMEDCT:189642005][accessDate: 05-04-2011]
A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH).
A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH).[accessedResource: NIFSTD:birnlex_12633][accessDate: 05-04-2011]
A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.
A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.[accessedResource: MSH:D018305][accessDate: 05-04-2011]
A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, and nodular.
A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.
A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.[accessedResource: NCIt:C3790][accessDate: 05-04-2011]
Ganglioneuroblastoma (morphologic abnormality)
Ganglioneuroblastoma (morphologic abnormality)[accessedResource: SNOMEDCT:69515008][accessDate: 05-04-2011]
Ganglioneuroblastomas[accessedResource: MSH:D018305][accessDate: 05-04-2011]
Adenocarcinoma of Stomach[accessedResource: NCIt:C4004][accessDate: 05-04-2011]
Adenocarcinoma of stomach (disorder)[accessedResource: SNOMEDCT:408647009][accessDate: 05-04-2011]
Adenocarcinoma of the Stomach[accessedResource: NCIt:C4004][accessDate: 05-04-2011]
An adenocarcinoma arising from the stomach glandular epithelium. Gastric adenocarcinoma is primarily a disease of older individuals, most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter Pylori infection. The lack of early symptoms often delays the diagnosis of gastric cancer. The majority of patients present with advanced tumors which have poor rates of curability. Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type. The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a "curative" resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999).[accessedResource: NCIt:C4004][accessDate: 05-04-2011]
An adenocarcinoma arising from the stomach glandular epithelium. Gastric adenocarcinoma is primarily a disease of older individuals, most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter Pylori infection. The lack of early symptoms often delays the diagnosis of gastric cancer. The majority of patients present with advanced tumors which have poor rates of curability. Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type. The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a "curative" resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999).
Stomach Adenocarcinoma[accessedResource: NCIt:C4004][accessDate: 05-04-2011]
An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.
An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.[accessedResource: NCIt:C9157][accessDate: 05-04-2011]
Intestinal Adenocarcinoma of Stomach[accessedResource: NCIt:C9157][accessDate: 05-04-2011]
Intestinal Adenocarcinoma of the Stomach
Intestinal Gastric Adenocarcinoma[accessedResource: NCIt:C9157][accessDate: 05-04-2011]
Intestinal Stomach Adenocarcinoma[accessedResource: NCIt:C9157][accessDate: 05-04-2011]
intestinal adenocarcinoma of the stomach[accessedResource: DOID:8026][accessDate: 05-04-2011]
All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).
All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).[accessedResource: MSH:D046152][accessDate: 05-04-2011]
GANT[accessedResource: DOID:9253][accessDate: 05-04-2011]
GIST[accessedResource: DOID:9253][accessDate: 05-04-2011]
Gastrointestinal Stromal Neoplasm[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Gastrointestinal Stromal Neoplasms[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Gastrointestinal Stromal Sarcoma[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Gastrointestinal Stromal Tumors[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Neoplasm, Gastrointestinal Stromal[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Neoplasms, Gastrointestinal Stromal[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Stromal Neoplasm, Gastrointestinal[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Stromal Neoplasms, Gastrointestinal[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Stromal Tumor, Gastrointestinal[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Stromal Tumors, Gastrointestinal[accessedResource: MSH:D046152][accessDate: 05-04-2011]
Stromal tumor of gastrointestinal tract[accessedResource: DOID:9253][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_10584' instead. New Label : Gastrointestinal stromal tumor
gene_knock_out[accessedResource: MO_771][accessDate: 05-04-2011]
Quality? Is this intrinsic to the organism?
The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations.
A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be).
No longer required as information entity, child class has been moved to process.
A genetic modification of the genome of an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection.
Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection
genetic_modification[accessedResource: MO_927][accessDate: 05-04-2011]
Genetic traits are small inherited parts of the phenotype of an organism
Disorder of reproductive system (disorder)
Disorder of reproductive system (disorder)[accessedResource: SNOMEDCT:362968007][accessDate: 05-04-2011]
Disorder of reproductive system[accessedResource: SNOMEDCT:362968007][accessDate: 05-04-2011]
Non-neoplastic Reproductive system disease
Non-neoplastic Reproductive system disease[accessedResource: DOID:15][accessDate: 05-04-2011]
genital system disease[accessedResource: DOID:15][accessDate: 05-04-2011]
Information, making the distinction between the actual physical material (e.g. a cell) and the information about the genetic content (genotype).
The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment.
A cancer that is derived_from germ cells.
A cancer that is derived_from germ cells.[accessedResource: DOID:2994][accessDate: 05-04-2011]
Cancer, Embryonal and Mixed[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Cancer, Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Cancer, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Cancers, Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Cancers, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011]
EMBRYONAL NEOPL[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Embryonal Cancer[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Embryonal Cancers[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Embryonal Neoplasm[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Embryonal Neoplasms[accessedResource: MSH:D009373][accessDate: 05-04-2011]
GERM CELL EMBRYONAL NEOPL[accessedResource: MSH:D009373][accessDate: 05-04-2011]
GERM CELL EMBRYONIC NEOPL[accessedResource: MSH:D009373][accessDate: 05-04-2011]
GERM CELL NEOPL[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Germ Cell Cancer[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Germ Cell Cancers[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Germ Cell Neoplasms[accessedResource: NCIt:C3708][accessDate: 05-04-2011]
Germ Cell Tumors[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Germ Cell and Embryonal Neoplasms[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Germ Cell and Embryonic Neoplasms[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Germ cell neoplasm (morphologic abnormality)
Germ cell neoplasm (morphologic abnormality)[accessedResource: SNOMEDCT:115233005][accessDate: 05-04-2011]
Germ cell neoplasm NOS (morphologic abnormality)
Germ cell neoplasm[accessedResource: SNOMEDCT:115233005][accessDate: 05-04-2011]
Germ cell neoplasms (morphologic abnormality)
Germ cell tumor (disorder)[accessedResource: SNOMEDCT:402878003][accessDate: 05-04-2011]
Germ cell tumor, NOS[accessedResource: SNOMEDCT:28307001][accessDate: 05-04-2011]
Germ cell tumour[accessedResource: SNOMEDCT:402878003][accessDate: 05-04-2011]
Germinoma (morphologic abnormality)[accessedResource: SNOMEDCT:28307001][accessDate: 05-04-2011]
Germinoma[accessedResource: SNOMEDCT:28307001][accessDate: 05-04-2011]
NEOPL EMBRYONAL[accessedResource: MSH:D009373][accessDate: 05-04-2011]
NEOPL GERM CELL EMBRYONAL[accessedResource: MSH:D009373][accessDate: 05-04-2011]
NEOPL GERM CELL EMBRYONIC[accessedResource: MSH:D009373][accessDate: 05-04-2011]
NEOPL GERM CELL[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Neoplasm of Germ Cell[accessedResource: NCIt:C3708][accessDate: 05-04-2011]
Neoplasm of the Germ Cell[accessedResource: NCIt:C3708][accessDate: 05-04-2011]
Neoplasm, Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.
Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Neoplasms, Embryonal and Mixed[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Neoplasms, Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Neoplasms, Germ Cell and Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Neoplasms, Germ Cell and Embryonic[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Neoplasms, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Tumor of Germ Cell[accessedResource: NCIt:C3708][accessDate: 05-04-2011]
Tumor of the Germ Cell[accessedResource: NCIt:C3708][accessDate: 05-04-2011]
Tumor, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011]
Tumors, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011]
[M]Germ cell neoplasm NOS (morphologic abnormality)
[M]Germ cell neoplasm NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189854008][accessDate: 05-04-2011]
[M]Germ cell neoplasm NOS[accessedResource: SNOMEDCT:189854008][accessDate: 05-04-2011]
[M]Germ cell neoplasms (morphologic abnormality)
[M]Germ cell neoplasms (morphologic abnormality)[accessedResource: SNOMEDCT:189839002][accessDate: 05-04-2011]
[M]Germ cell neoplasms[accessedResource: SNOMEDCT:189839002][accessDate: 05-04-2011]
malignant tumor of the germ cell[accessedResource: DOID:2994][accessDate: 05-04-2011]
A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures.
A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)
duplication with glioblastoma (EFO_0000519)
An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)
An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)[accessedResource: MSH:D005901][accessDate: 05-04-2011]
GLAUCOMA NEC[accessedResource: ICD9:365.89][accessDate: 05-04-2011]
Glaucoma (disorder)[accessedResource: SNOMEDCT:23986001][accessDate: 05-04-2011]
Glaucoma NOS (disorder)[accessedResource: SNOMEDCT:193569008][accessDate: 05-04-2011]
Glaucoma NOS[accessedResource: SNOMEDCT:193569008][accessDate: 05-04-2011]
Glaucoma associated with other ocular disorders
Glaucoma associated with other ocular disorders (disorder)
Glaucoma associated with other ocular disorders (disorder)[accessedResource: SNOMEDCT:193559002][accessDate: 05-04-2011]
Glaucoma associated with other ocular disorders NOS
Glaucoma associated with other ocular disorders NOS (disorder)
Glaucoma associated with other ocular disorders NOS (disorder)[accessedResource: SNOMEDCT:193565002][accessDate: 05-04-2011]
Glaucoma associated with other ocular disorders NOS[accessedResource: SNOMEDCT:193565002][accessDate: 05-04-2011]
Glaucoma associated with other ocular disorders[accessedResource: ICD9:365.6][accessDate: 05-04-2011]
Glaucoma, NOS[accessedResource: SNOMEDCT:23986001][accessDate: 05-04-2011]
Glaucomas[accessedResource: MSH:D005901][accessDate: 05-04-2011]
Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.
Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.[accessedResource: NCIt:C26782][accessDate: 05-04-2011]
Other specified forms of glaucoma (disorder)
Other specified forms of glaucoma (disorder)[accessedResource: SNOMEDCT:193566001][accessDate: 05-04-2011]
Other specified forms of glaucoma[accessedResource: SNOMEDCT:193566001][accessDate: 05-04-2011]
Other specified glaucoma NOS (disorder)[accessedResource: SNOMEDCT:193568000][accessDate: 05-04-2011]
Other specified glaucoma NOS[accessedResource: SNOMEDCT:193568000][accessDate: 05-04-2011]
Other specified glaucoma[accessedResource: ICD9:365.89][accessDate: 05-04-2011]
Unspecified glaucoma[accessedResource: ICD9:365.9][accessDate: 05-04-2011]
A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.
A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).
A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).[accessedResource: NIFSTD:birnlex_12620][accessDate: 05-04-2011]
A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures.[accessedResource: MSH:D005909][accessDate: 05-04-2011]
Astrocytoma, Grade IV[accessedResource: NIFSTD:birnlex_12620][accessDate: 05-04-2011]
Astrocytomas, Grade IV[accessedResource: MSH:D005909][accessDate: 05-04-2011]
GBM (Glioblastoma)[accessedResource: NCIt:C3058][accessDate: 05-04-2011]
GBM - Glioblastoma multiforme[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011]
GBM[accessedResource: NCIt:C3058][accessDate: 05-04-2011]
GLM - Glioblastoma multiforme[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011]
Giant Cell Glioblastoma[accessedResource: MSH:D005909][accessDate: 05-04-2011]
Giant Cell Glioblastomas[accessedResource: MSH:D005909][accessDate: 05-04-2011]
Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).
Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).[accessedResource: NIFSTD:birnlex_12621][accessDate: 05-04-2011]
Glioblastoma (morphologic abnormality)[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011]
Glioblastoma NOS (morphologic abnormality)
Glioblastoma NOS (morphologic abnormality)[accessedResource: DOID:3068][accessDate: 05-04-2011]
Glioblastoma, Giant Cell[accessedResource: MSH:D005909][accessDate: 05-04-2011]
Glioblastoma, NOS[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011]
Glioblastoma, no ICD-O subtype (morphologic abnormality)
Glioblastoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011]
Glioblastoma, no ICD-O subtype[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011]
Glioblastoma[accessedResource: NIFSTD:birnlex_12620][accessDate: 05-04-2011]
Glioblastomas, Giant Cell[accessedResource: MSH:D005909][accessDate: 05-04-2011]
Glioblastomas[accessedResource: MSH:D005909][accessDate: 05-04-2011]
Grade IV Astrocytic Neoplasm[accessedResource: NCIt:C3058][accessDate: 05-04-2011]
Grade IV Astrocytic Tumor[accessedResource: NCIt:C3058][accessDate: 05-04-2011]
Grade IV Astrocytomas[accessedResource: MSH:D005909][accessDate: 05-04-2011]
Malignant Optic Nerve Astrocytoma[accessedResource: NIFSTD:birnlex_12621][accessDate: 05-04-2011]
Optic Glioma[accessedResource: NIFSTD:birnlex_12621][accessDate: 05-04-2011]
Optic Nerve Glioma[accessedResource: NIFSTD:birnlex_12621][accessDate: 05-04-2011]
Spongioblastoma Multiforme[accessedResource: NCIt:C3058][accessDate: 05-04-2011]
The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)
The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)[accessedResource: NCIt:C3058][accessDate: 05-04-2011]
[M]Glioblastoma NOS (morphologic abnormality)
[M]Glioblastoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:269506004][accessDate: 05-04-2011]
[M]Glioblastoma NOS[accessedResource: SNOMEDCT:269506004][accessDate: 05-04-2011]
grade IV astrocytoma[accessedResource: NCIt:C3058][accessDate: 05-04-2011]
A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.
Replaced with central nervous system cancer (EFO_0000326)
A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies.
GrowthCondition[accessedResource: MO_183][accessDate: 05-04-2011]
OntologyMappingImporter following DOID:253
Synonymous with lymphoid neoplasm EFO_0001642 - use instead.
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Autosomal Dominant Hereditary Spastic Paraplegia
Autosomal Dominant Hereditary Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Autosomal Dominant Spastic Paraplegia Hereditary
Autosomal Dominant Spastic Paraplegia Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Autosomal Recessive Spastic Paraplegia, Hereditary
Autosomal Recessive Spastic Paraplegia, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Familial spastic paraplegia syndrome[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011]
HERED SPASTIC PARAPLEGIA[accessedResource: ICD9:334.1][accessDate: 05-04-2011]
HMSN Type V[accessedResource: MSH:D015419][accessDate: 05-04-2011]
HMSN V (Hereditary Motor and Sensory Neuropathy Type V)
HMSN V (Hereditary Motor and Sensory Neuropathy Type V)[accessedResource: MSH:D015419][accessDate: 05-04-2011]
HMSN V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011]
HSMN V[accessedResource: DOID:2476][accessDate: 05-04-2011]
HSP - Hereditary spastic paraplegia[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011]
Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary Autosomal Recessive Spastic Paraplegia
Hereditary Autosomal Recessive Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary Motor Sensory Neuropathy with Pyramidal Signs
Hereditary Motor Sensory Neuropathy with Pyramidal Signs[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary Motor-Sensory Neuropathy with Pyramidal Signs
Hereditary Motor-Sensory Neuropathy with Pyramidal Signs[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary Spastic Paraplegia, Autosomal Recessive
Hereditary Spastic Paraplegia, Autosomal Recessive[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary Spastic Paraplegias[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary X Linked Recessive Spastic Paraplegia
Hereditary X Linked Recessive Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary motor and sensory neuropathy type V
Hereditary motor and sensory neuropathy type V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011]
Hereditary motor and sensory neuropathy, type V
Hereditary motor and sensory neuropathy, type V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011]
Hereditary sensory-motor neuropathy, type V
Hereditary sensory-motor neuropathy, type V (disorder)
Hereditary sensory-motor neuropathy, type V (disorder)[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011]
Hereditary sensory-motor neuropathy, type V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011]
Hereditary spastic paraplegia (disorder)
Hereditary spastic paraplegia (disorder)[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011]
Hereditary, Spastic Paraplegia, Autosomal Dominant
Hereditary, Spastic Paraplegia, Autosomal Dominant[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hereditary, Spastic Paraplegia, X-Linked Recessive
Hereditary, Spastic Paraplegia, X-Linked Recessive[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia
Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia
Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Paraplegia, Hereditary Spastic[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Paraplegia, Spastic, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Paraplegias, Hereditary Spastic[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy
Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia, Autosomal Dominant, Hereditary
Spastic Paraplegia, Autosomal Dominant, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia, Autosomal Recessive, Hereditary
Spastic Paraplegia, Autosomal Recessive, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia, Hereditary, Autosomal Dominant
Spastic Paraplegia, Hereditary, Autosomal Dominant[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia, Hereditary, Autosomal Recessive
Spastic Paraplegia, Hereditary, Autosomal Recessive[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia, Hereditary, X-Linked Recessive
Spastic Paraplegia, Hereditary, X-Linked Recessive[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia, X-Linked Recessive, Hereditary
Spastic Paraplegia, X-Linked Recessive, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy
Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic Paraplegias, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Spastic congenital paraplegia[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011]
Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V
Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011]
Strumpell disease[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011]
Strumpell-Lorrain disease[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011]
Type V Hereditary Motor and Sensory Neuropathy
Type V Hereditary Motor and Sensory Neuropathy[accessedResource: MSH:D015419][accessDate: 05-04-2011]
Type V, HMSN[accessedResource: MSH:D015419][accessDate: 05-04-2011]
X linked Recessive Hereditary Spastic Paraplegia
X linked Recessive Hereditary Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
X-Linked, Spastic Paraplegia, Hereditary
X-Linked, Spastic Paraplegia, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011]
X-linked Recessive Hereditary Spastic Paraplegia
X-linked Recessive Hereditary Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011]
spastic paraplegia[accessedResource: DOID:2476][accessDate: 05-04-2011]
A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter;nThe hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion.
A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter;nThe hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion.[accessedResource: BTO:0000601][accessDate: 05-04-2011]
A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.
A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.[accessedResource: NIFSTD:birnlex_721][accessDate: 05-04-2011]
Ammon's horn[accessedResource: FMAID:62493][accessDate: 05-04-2011]
CNS - Brain - Hippocampus (MMHCC)[accessedResource: NCIt:C22615][accessDate: 05-04-2011]
Cornu Ammonis[accessedResource: NIFSTD:birnlex_726][accessDate: 05-04-2011]
Hippocampus major[accessedResource: FMAID:62493][accessDate: 05-04-2011]
ammon horn[accessedResource: NIFSTD:birnlex_721][accessDate: 05-04-2011]
hippocampus proper[accessedResource: NIFSTD:birnlex_721][accessDate: 05-04-2011]
An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment.
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea.
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)[accessedResource: MSH:D006816][accessDate: 05-04-2011]
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea.[accessedResource: NIFSTD:birnlex_12500][accessDate: 05-04-2011]
AKINETIC RIGID VARIANT HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Akinetic Rigid Variant of Huntington Disease
Akinetic Rigid Variant of Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Chorea, Chronic Progressive Hereditary (Huntington)
Chorea, Chronic Progressive Hereditary (Huntington)[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Chorea, Huntington's[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Chorea, Huntington[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Chronic Progressive Hereditary Chorea (Huntington)
Chronic Progressive Hereditary Chorea (Huntington)[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Chronic progressive chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011]
Chronic progressive hereditary chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011]
HC - Huntington chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011]
HD - Huntington chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011]
HD[accessedResource: DOID:12858][accessDate: 05-04-2011]
HUNTINGTON DIS AKINETIC RIGID VARIANT[accessedResource: MSH:D006816][accessDate: 05-04-2011]
HUNTINGTON DIS JUVENILE ONSET[accessedResource: MSH:D006816][accessDate: 05-04-2011]
HUNTINGTON DIS JUVENILE[accessedResource: MSH:D006816][accessDate: 05-04-2011]
HUNTINGTON DIS LATE ONSET[accessedResource: MSH:D006816][accessDate: 05-04-2011]
HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011]
HUNTINGTONS DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington Chronic Progressive Hereditary Chorea
Huntington Chronic Progressive Hereditary Chorea[accessedResource: NIFSTD:birnlex_12500][accessDate: 05-04-2011]
Huntington Disease, Akinetic Rigid Variant
Huntington Disease, Akinetic Rigid Variant[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington Disease, Akinetic-Rigid Variant
Huntington Disease, Akinetic-Rigid Variant[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington Disease, Juvenile Onset[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington Disease, Juvenile-Onset[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington Disease, Juvenile[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington Disease, Late Onset[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington Disease, Late-Onset[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Huntington chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011]
Huntington's chorea (disorder)[accessedResource: DOID:12858][accessDate: 05-04-2011]
Huntington's chorea[accessedResource: DOID:12858][accessDate: 05-04-2011]
Huntington's disease pathway[accessedResource: DOID:12858][accessDate: 05-04-2011]
Huntington's[accessedResource: NIFSTD:birnlex_12500][accessDate: 05-04-2011]
Huntingtons disease[accessedResource: NIFSTD:birnlex_12500][accessDate: 05-04-2011]
JUVENILE HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011]
JUVENILE ONSET HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Juvenile Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Juvenile Onset Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Juvenile-Onset Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011]
LATE ONSET HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Late Onset Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Late-Onset Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Progressive Chorea, Chronic Hereditary (Huntington)
Progressive Chorea, Chronic Hereditary (Huntington)[accessedResource: MSH:D006816][accessDate: 05-04-2011]
Progressive Chorea, Hereditary, Chronic (Huntington)
Progressive Chorea, Hereditary, Chronic (Huntington)[accessedResource: MSH:D006816][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_118' instead. New Label : Huntington disease
The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy.
Abnormally high BLOOD GLUCOSE level after a meal.
Abnormally high BLOOD GLUCOSE level after a meal.[accessedResource: MSH:D006943][accessDate: 05-04-2011]
Abnormally high BLOOD GLUCOSE level.[accessedResource: MSH:D006943][accessDate: 05-04-2011]
Hyperglycaemia, NOS[accessedResource: SNOMEDCT:80394007][accessDate: 05-04-2011]
Hyperglycemia (disorder)[accessedResource: SNOMEDCT:80394007][accessDate: 05-04-2011]
Hyperglycemia, NOS[accessedResource: SNOMEDCT:80394007][accessDate: 05-04-2011]
Hyperglycemia, Postprandial[accessedResource: MSH:D006943][accessDate: 05-04-2011]
Hyperglycemias, Postprandial[accessedResource: MSH:D006943][accessDate: 05-04-2011]
Hyperglycemias[accessedResource: MSH:D006943][accessDate: 05-04-2011]
Postprandial Hyperglycemia[accessedResource: MSH:D006943][accessDate: 05-04-2011]
Postprandial Hyperglycemias[accessedResource: MSH:D006943][accessDate: 05-04-2011]
[D]Elevated blood glucose level[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011]
[D]Hyperglycaemia[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011]
[D]Hyperglycemia (context-dependent category)
[D]Hyperglycemia (context-dependent category)[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011]
[D]Hyperglycemia (situation)[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011]
[D]Hyperglycemia[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011]
hyperglycaemia[accessedResource: DOID:4195][accessDate: 05-04-2011]
hyperglycemia (context-dependent category)
hyperglycemia (context-dependent category)[accessedResource: DOID:4195][accessDate: 05-04-2011]
An abnormal increase in the number of (otherwise normal) cells in an organ or a tissue with consequent enlargement.
An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.
An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.[accessedResource: NCIt:C3113][accessDate: 05-04-2011]
Hyperplastic[accessedResource: NCIt:C3113][accessDate: 05-04-2011]
(hypertensive disease) or (hypertension)
Blood Pressure, High[accessedResource: MSH:D006973][accessDate: 05-04-2011]
Blood Pressures, High[accessedResource: MSH:D006973][accessDate: 05-04-2011]
HTN[accessedResource: DOID:10763][accessDate: 05-04-2011]
HYPERTENSIVE DISEASE[accessedResource: ICD9:401-405.99][accessDate: 05-04-2011]
High Blood Pressure[accessedResource: MSH:D006973][accessDate: 05-04-2011]
High Blood Pressures[accessedResource: MSH:D006973][accessDate: 05-04-2011]
High blood pressure (& [essential hypertension])
High blood pressure (& [essential hypertension])[accessedResource: DOID:10763][accessDate: 05-04-2011]
Hypertensive disease NOS (disorder)[accessedResource: SNOMEDCT:194794002][accessDate: 05-04-2011]
Hypertensive disease NOS[accessedResource: SNOMEDCT:194794002][accessDate: 05-04-2011]
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.[accessedResource: MSH:D006973][accessDate: 05-04-2011]
SURG COMP - HYPERTENSION[accessedResource: ICD9:997.91][accessDate: 05-04-2011]
[X]Hypertensive diseases (disorder)[accessedResource: SNOMEDCT:195537001][accessDate: 05-04-2011]
[X]Hypertensive diseases[accessedResource: SNOMEDCT:195537001][accessDate: 05-04-2011]
hyperpiesia[accessedResource: DOID:10763][accessDate: 05-04-2011]
vascular hypertensive disorder[accessedResource: DOID:10763][accessDate: 05-04-2011]
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.[accessedResource: NCIt:C34449][accessDate: 05-04-2011]
A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).
A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Asymmetric Septal Hypertrophies[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Asymmetric Septal Hypertrophy[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Cardiomyopathies, Hypertrophic Obstructive
Cardiomyopathies, Hypertrophic Obstructive[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Cardiomyopathies, Hypertrophic[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Cardiomyopathy, Hypertrophic Obstructive
Cardiomyopathy, Hypertrophic Obstructive[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Cardiomyopathy, hypertrophic[accessedResource: DOID:11984][accessDate: 05-04-2011]
HCM - Hypertrophic cardiomyopathy[accessedResource: SNOMEDCT:233873004][accessDate: 05-04-2011]
HOCM - Hypertrophic obstructive cardiomyopathy
HOCM - Hypertrophic obstructive cardiomyopathy[accessedResource: SNOMEDCT:45227007][accessDate: 05-04-2011]
HYPERTR OBSTR CARDIOMYOP[accessedResource: ICD9:425.1][accessDate: 05-04-2011]
Hypertrophic Cardiomyopathies[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Hypertrophic Obstructive Cardiomyopathies
Hypertrophic Obstructive Cardiomyopathies[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Hypertrophic obstructive cardiomyopathy (disorder)
Hypertrophies, Asymmetric Septal[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Hypertrophy, Asymmetric Septal[accessedResource: MSH:D002312][accessDate: 05-04-2011]
IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS
IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS[accessedResource: MSH:D002312][accessDate: 05-04-2011]
IHSS[accessedResource: MSH:D002312][accessDate: 05-04-2011]
IHSSs[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Idiopathic Hypertrophic Subaortic Stenosis
Idiopathic Hypertrophic Subaortic Stenosis[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Idiopathic Hypertrophic Subvalvular Stenosis
Idiopathic Hypertrophic Subvalvular Stenosis[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Obstructive Cardiomyopathies, Hypertrophic
Obstructive Cardiomyopathies, Hypertrophic[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Obstructive Cardiomyopathy, Hypertrophic
Obstructive Cardiomyopathy, Hypertrophic[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Obstructive cardiomyopathy[accessedResource: SNOMEDCT:45227007][accessDate: 05-04-2011]
Primary hypertrophic cardiomyopathy[accessedResource: SNOMEDCT:233873004][accessDate: 05-04-2011]
SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC
SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC[accessedResource: MSH:D002312][accessDate: 05-04-2011]
SUBVALV STENOSIS[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Septal Hypertrophies, Asymmetric[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Septal Hypertrophy, Asymmetric[accessedResource: MSH:D002312][accessDate: 05-04-2011]
Subvalvular Stenosis, Idiopathic Hypertrophic
Subvalvular Stenosis, Idiopathic Hypertrophic[accessedResource: MSH:D002312][accessDate: 05-04-2011]
hyper. obst. cardiomyopathy[accessedResource: DOID:11984][accessDate: 05-04-2011]
hypertrophic cardiomyopathy (disorder)[accessedResource: DOID:11984][accessDate: 05-04-2011]
hypertrophic myocardiopathy[accessedResource: DOID:11984][accessDate: 05-04-2011]
hypertrophic obstructive cardiomyopathy (disorder)[accessedResource: DOID:11984][accessDate: 05-04-2011]
hypertrophic obstructive cardiomyopathy[accessedResource: DOID:11984][accessDate: 05-04-2011]
primary hypertrophic cardiomyopathy (disorder) [Ambiguous]
primary hypertrophic cardiomyopathy (disorder) [Ambiguous][accessedResource: DOID:11984][accessDate: 05-04-2011]
A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)
A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)[accessedResource: NCIt:C27351][accessDate: 05-04-2011]
AUTOIMMUNE DISEASE NEC[accessedResource: ICD9:279.4][accessDate: 05-04-2011]
Autoimmune disease, not elsewhere classified
Autoimmune disease, not elsewhere classified[accessedResource: ICD9:279.4][accessDate: 05-04-2011]
DEFIC CELL IMMUNITY NOS[accessedResource: ICD9:279.19][accessDate: 05-04-2011]
Deficiency of cell-mediated immunity[accessedResource: ICD9:279.1][accessDate: 05-04-2011]
Disorder of the immune mechanism NOS (disorder)
Disorder of the immune mechanism NOS (disorder)[accessedResource: SNOMEDCT:191019003][accessDate: 05-04-2011]
Disorder of the immune mechanism NOS[accessedResource: SNOMEDCT:191019003][accessDate: 05-04-2011]
Disorders involving the immune mechanism
Disorders involving the immune mechanism[accessedResource: ICD9:279][accessDate: 05-04-2011]
IMMUNDEF T-CELL DEF NOS[accessedResource: ICD9:279.10][accessDate: 05-04-2011]
IMMUNE MECHANISM DIS NEC[accessedResource: ICD9:279.8][accessDate: 05-04-2011]
IMMUNE MECHANISM DIS NOS[accessedResource: ICD9:279.9][accessDate: 05-04-2011]
Immune System and Related Disorders[accessedResource: NCIt:C27351][accessDate: 05-04-2011]
Immunodeficiency and Immunosuppression Disorders
Immunodeficiency and Immunosuppression Disorders[accessedResource: NCIt:C27351][accessDate: 05-04-2011]
Immunodeficiency with predominant T-cell defect, unspecified
Immunodeficiency with predominant T-cell defect, unspecified[accessedResource: ICD9:279.10][accessDate: 05-04-2011]
Other deficiency of cell-mediated immunity
Other deficiency of cell-mediated immunity[accessedResource: ICD9:279.19][accessDate: 05-04-2011]
Other specified disorders involving the immune mechanism
Other specified disorders involving the immune mechanism[accessedResource: ICD9:279.8][accessDate: 05-04-2011]
Other specified disorders of the immune mechanism
Other specified disorders of the immune mechanism (disorder)
Other specified disorders of the immune mechanism (disorder)[accessedResource: SNOMEDCT:191017001][accessDate: 05-04-2011]
Other specified disorders of the immune mechanism[accessedResource: SNOMEDCT:191017001][accessDate: 05-04-2011]
Unspecified disorder of immune mechanism
Unspecified disorder of immune mechanism[accessedResource: ICD9:279.9][accessDate: 05-04-2011]
[X]Disorder involving the immune mechanism, unspecified
[X]Disorder involving the immune mechanism, unspecified (disorder)
[X]Disorder involving the immune mechanism, unspecified (disorder)[accessedResource: SNOMEDCT:191035005][accessDate: 05-04-2011]
[X]Disorder involving the immune mechanism, unspecified[accessedResource: SNOMEDCT:191035005][accessDate: 05-04-2011]
The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation.
An individual used a specimen in an experiment, from which a material sample was derived.
obsolete_individual genetic characteristic
The genotype of the individual organism from which the biomaterial was derived. Individual genetic characteristics include polymorphisms, disease alleles, and haplotypes.
The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism.
Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.
Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.[accessedResource: MSH:D007246][accessDate: 05-04-2011]
Infertile (finding)[accessedResource: DOID:5223][accessDate: 05-04-2011]
Infertile[accessedResource: DOID:5223][accessDate: 05-04-2011]
Reproductive Sterility[accessedResource: MSH:D007246][accessDate: 05-04-2011]
Sterility, Reproductive[accessedResource: MSH:D007246][accessDate: 05-04-2011]
Sterility[accessedResource: MSH:D007246][accessDate: 05-04-2011]
Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.
Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.[accessedResource: NCIt:C3671][accessDate: 05-04-2011]
Trauma[accessedResource: NCIt:C3671][accessDate: 05-04-2011]
Wound[accessedResource: NCIt:C3671][accessDate: 05-04-2011]
Embryoblast[accessedResource: NCIt:C13740][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000087 label: inner cell mass
An instrument is a device which provides a mechanical or electronic function.
HardwareType[accessedResource: MO_113][accessDate: 05-04-2011]
Hardware[accessedResource: MO_134][accessDate: 05-04-2011]
A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.
A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.[accessedResource: MSH:D007340][accessDate: 05-04-2011]
A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.
A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Adenoma, beta Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011]
Adenoma, beta-Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011]
Adenomas, beta-Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011]
Beta Cell Neoplasm of Pancreas[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Beta Cell Neoplasm of the Pancreas[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Beta Cell Neoplasm[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Beta Cell Tumor of Pancreas[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Beta Cell Tumor of the Pancreas[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Beta cell adenoma[accessedResource: SNOMEDCT:25324008][accessDate: 05-04-2011]
Insulin-Producing Islet Cell Neoplasm[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Insulin-Producing Islet Cell Tumor[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Insulin-Producing Neoplasm of Islet Cells
Insulin-Producing Neoplasm of Islet Cells[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Insulin-Producing Neoplasm of the Islet Cells
Insulin-Producing Neoplasm of the Islet Cells[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Insulin-Producing Tumor of the Islet Cells
Insulin-Producing Tumor of the Islet Cells[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Insulin-Producing tumor of Islet cells[accessedResource: DOID:3903][accessDate: 05-04-2011]
Insulinoma (disorder)[accessedResource: DOID:3903][accessDate: 05-04-2011]
Insulinoma (morphologic abnormality)[accessedResource: SNOMEDCT:25324008][accessDate: 05-04-2011]
Insulinoma NOS (morphologic abnormality)
Insulinoma NOS (morphologic abnormality)[accessedResource: DOID:3903][accessDate: 05-04-2011]
Insulinoma, NOS[accessedResource: SNOMEDCT:25324008][accessDate: 05-04-2011]
Insulinomas[accessedResource: MSH:D007340][accessDate: 05-04-2011]
Insuloma[accessedResource: MSH:D007340][accessDate: 05-04-2011]
Insulomas[accessedResource: MSH:D007340][accessDate: 05-04-2011]
Pancreatic Beta Cell Tumor[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Pancreatic Insulin Producing Neoplasm[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Pancreatic Insulin Producing Tumor[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
Tumor, beta-Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011]
Tumors, beta-Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011]
[M]Insulinoma NOS (morphologic abnormality)
[M]Insulinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:134154009][accessDate: 05-04-2011]
[M]Insulinoma NOS[accessedResource: SNOMEDCT:134154009][accessDate: 05-04-2011]
beta Cell Tumor[accessedResource: MSH:D007340][accessDate: 05-04-2011]
beta-Cell Adenoma[accessedResource: MSH:D007340][accessDate: 05-04-2011]
beta-Cell Adenomas[accessedResource: MSH:D007340][accessDate: 05-04-2011]
beta-Cell Tumor[accessedResource: MSH:D007340][accessDate: 05-04-2011]
beta-Cell Tumors[accessedResource: MSH:D007340][accessDate: 05-04-2011]
pancreatic insulin-producing tumor[accessedResource: NCIt:C3140][accessDate: 05-04-2011]
A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis.
A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis.[accessedResource: DOID:1126][accessDate: 05-04-2011]
Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces.
Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces.[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Brain Hemorrhage[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Brain Hemorrhages[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Chlamydia trachomatis infectious disease
Chlamydia trachomatis infectious disease[accessedResource: DOID:1126][accessDate: 05-04-2011]
Chlamydial Infection[accessedResource: DOID:1126][accessDate: 05-04-2011]
Hemorrhage, Brain[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Hemorrhage, Intracranial[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Hemorrhage, Posterior Fossa[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Hemorrhages, Brain[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Hemorrhages, Intracranial[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Hemorrhages, Posterior Fossa[accessedResource: MSH:D020300][accessDate: 05-04-2011]
INTRACRANIAL HEMORR NOS[accessedResource: ICD9:432.9][accessDate: 05-04-2011]
Intracranial Hemorrhages[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Intracranial haemorrhage NOS[accessedResource: SNOMEDCT:195178005][accessDate: 05-04-2011]
Intracranial haemorrhage[accessedResource: SNOMEDCT:1386000][accessDate: 05-04-2011]
Intracranial hemorrhage (disorder)[accessedResource: SNOMEDCT:1386000][accessDate: 05-04-2011]
Intracranial hemorrhage NOS (disorder)[accessedResource: SNOMEDCT:195178005][accessDate: 05-04-2011]
Intracranial hemorrhage, NOS[accessedResource: SNOMEDCT:1386000][accessDate: 05-04-2011]
Intracranial hemorrhage[accessedResource: SNOMEDCT:1386000][accessDate: 05-04-2011]
Posterior Fossa Hemorrhage[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Posterior Fossa Hemorrhages[accessedResource: MSH:D020300][accessDate: 05-04-2011]
Unspecified intracranial hemorrhage[accessedResource: ICD9:432.9][accessDate: 05-04-2011]
chlamydial disease[accessedResource: DOID:1126][accessDate: 05-04-2011]
An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.
An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.[accessedResource: NCIt:C7688][accessDate: 05-04-2011]
Infiltrating Ductal and Lobular Carcinoma[accessedResource: NCIt:C7688][accessDate: 05-04-2011]
Infiltrating ductal and Lobular carcinoma
Invasive Duct and Lobular Carcinoma[accessedResource: NCIt:C7688][accessDate: 05-04-2011]
A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205)
A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205)[accessedResource: MSH:D018275][accessDate: 05-04-2011]
An infiltrating lobular adenocarcinoma. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.
An infiltrating lobular adenocarcinoma. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Carcinoma, Lobular[accessedResource: MSH:D018275][accessDate: 05-04-2011]
Carcinomas, Lobular[accessedResource: MSH:D018275][accessDate: 05-04-2011]
Classic Invasive Lobular Carcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Infiltrating Lobular Adenocarcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Infiltrating Lobular Breast Carcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Infiltrating Lobular Carcinoma of Breast
Infiltrating Lobular Carcinoma of Breast[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Infiltrating Lobular Carcinoma of the Breast
Infiltrating Lobular Carcinoma of the Breast[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Invasive Lobular Adenocarcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Invasive Lobular Breast Carcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Invasive Lobular Carcinoma of Breast[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Invasive Lobular Carcinoma of the Breast
Invasive Lobular Carcinoma of the Breast[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Invasive Lobular Carcinoma, Classic Type
Invasive Lobular Carcinoma, Classic Type[accessedResource: NCIt:C7950][accessDate: 05-04-2011]
Lobular Carcinoma[accessedResource: MSH:D018275][accessDate: 05-04-2011]
Lobular Carcinomas[accessedResource: MSH:D018275][accessDate: 05-04-2011]
The process of treating a material with radiation
A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.
A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.[accessedResource: MSH:D043183][accessDate: 05-04-2011]
A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.[accessedResource: DOID:9778][accessDate: 05-04-2011]
Adaptive colitis[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Colitides, Mucous[accessedResource: MSH:D043183][accessDate: 05-04-2011]
Colitis, Mucous[accessedResource: MSH:D043183][accessDate: 05-04-2011]
Colon spasm[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Colon, Irritable[accessedResource: MSH:D043183][accessDate: 05-04-2011]
Functional bowel disease[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
IBD[accessedResource: DOID:9778][accessDate: 05-04-2011]
IBS - Irritable bowel syndrome[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
IC - Irritable colon[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Irritable Bowel Syndromes[accessedResource: MSH:D043183][accessDate: 05-04-2011]
Irritable bowel[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Irritable colon (disorder)[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Irritable colon - Irritable bowel syndrome
Irritable colon syndrome[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Irritable colon[accessedResource: DOID:9778][accessDate: 05-04-2011]
Membranous colitis[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Mucous Colitides[accessedResource: MSH:D043183][accessDate: 05-04-2011]
Mucous Colitis[accessedResource: MSH:D043183][accessDate: 05-04-2011]
Nervous colitis[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Spastic colitis[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Spastic colon[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
Syndrome, Irritable Bowel[accessedResource: MSH:D043183][accessDate: 05-04-2011]
Syndromes, Irritable Bowel[accessedResource: MSH:D043183][accessDate: 05-04-2011]
[X]Psychogenic IBS[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011]
A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION.
A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION.[accessedResource: MSH:D007511][accessDate: 05-04-2011]
Ischaemia, NOS[accessedResource: SNOMEDCT:52674009][accessDate: 05-04-2011]
Ischaemia[accessedResource: SNOMEDCT:52674009][accessDate: 05-04-2011]
Ischemia (disorder)[accessedResource: SNOMEDCT:52674009][accessDate: 05-04-2011]
Ischemia, NOS[accessedResource: SNOMEDCT:52674009][accessDate: 05-04-2011]
Ischemias[accessedResource: MSH:D007511][accessDate: 05-04-2011]
Childhood type dermatomyositis (disorder)[accessedResource: SNOMEDCT:1212005][accessDate: 05-04-2011]
Childhood type dermatomyositis[accessedResource: SNOMEDCT:1212005][accessDate: 05-04-2011]
Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011]
childhood Dermatomyositis[accessedResource: DOID:14203][accessDate: 05-04-2011]
childhood type dermatomyositis (disorder)
A Human herpesvirus 8 infectious disease and is_a sarcoma that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_agent Human herpesvirus 8 (HHV8).
A Human herpesvirus 8 infectious disease and is_a sarcoma that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_agent Human herpesvirus 8 (HHV8).[accessedResource: DOID:8632][accessDate: 05-04-2011]
A sarcoma and Human herpesvirus 8 infectious disease that is transmitted_by human herpesvirus 8 (HHV8).
A sarcoma and is_a Human herpesvirus 8 infectious disease that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_agent Human herpesvirus 8 (HHV8).
A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV).
Epidemic Kaposi's sarcoma[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011]
KAPOSI'S SARCOMA NOS[accessedResource: ICD9:176.9][accessDate: 05-04-2011]
KS - Kaposi's sarcoma[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011]
Kaposi sarcoma, morphology[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011]
Kaposi sarcoma[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011]
Kaposi's sarcoma (clinical)[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011]
Kaposi's sarcoma (disorder)[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011]
Kaposi's sarcoma (morphologic abnormality)
Kaposi's sarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011]
Kaposi's sarcoma, morphology (morphologic abnormality)
Kaposi's sarcoma, morphology (morphologic abnormality)[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011]
Kaposi's sarcoma, morphology[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011]
Kaposi's sarcoma, other specified sites[accessedResource: ICD9:176.8][accessDate: 05-04-2011]
Kaposi's sarcoma, unspecified[accessedResource: ICD9:176.9][accessDate: 05-04-2011]
Kaposi's sarcoma-associated herpesvirus (KSHV)
Multiple haemorrhagic sarcoma[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011]
SPF STS - KPSI'S SARCOMA[accessedResource: ICD9:176.8][accessDate: 05-04-2011]
[M]Kaposi's sarcoma[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011]
[X]Kaposi's sarcoma, unspecified (disorder)
[X]Kaposi's sarcoma, unspecified (disorder)[accessedResource: SNOMEDCT:190112000][accessDate: 05-04-2011]
[X]Kaposi's sarcoma, unspecified[accessedResource: SNOMEDCT:190112000][accessDate: 05-04-2011]
Epidermoid carcinoma, keratinising[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Epidermoid carcinoma, keratinizing[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Keratinising epidermoid carcinoma[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Keratinising squamous cell carcinoma - large cell
Keratinising squamous cell carcinoma - large cell[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Keratinising squamous cell carcinoma[accessedResource: DOID:5521][accessDate: 05-04-2011]
Keratinizing epidermoid carcinoma[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Keratinizing squamous cell carcinoma - large cell
Keratinizing squamous cell carcinoma - large cell[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Squamous cell carcinoma, keratinising[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Squamous cell carcinoma, keratinizing (morphologic abnormality)
Squamous cell carcinoma, keratinizing (morphologic abnormality)[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Squamous cell carcinoma, keratinizing, NOS
Squamous cell carcinoma, keratinizing, NOS[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Squamous cell carcinoma, keratinizing[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Squamous cell carcinoma, large cell, keratinising
Squamous cell carcinoma, large cell, keratinising[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Squamous cell carcinoma, large cell, keratinizing
Squamous cell carcinoma, large cell, keratinizing[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Squamous cell carcinomas with morphologically prominent production of keratin.
Squamous cell carcinomas with morphologically prominent production of keratin.[accessedResource: NCIt:C4105][accessDate: 05-04-2011]
[M]Squamous cell carcinoma, keratinising type NOS
[M]Squamous cell carcinoma, keratinising type NOS[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
[M]Squamous cell carcinoma, keratinizing type NOS
[M]Squamous cell carcinoma, keratinizing type NOS[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011]
Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function.
The process of marking a material in some way for experimental purposes. E.g. the labelling of a nucleic acid with biotin in a microarray experiment
labeling[accessedResource: MO_471][accessDate: 05-04-2011]
A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.
A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.[accessedResource: NCIt:C6875][accessDate: 05-04-2011]
Large cell neuroendocrine carcinoma (morphologic abnormality)
large cell neuroendocrine carcinoma (morphologic abnormality)[accessedResource: DOID:5721][accessDate: 05-04-2011]
large-cell neuroendocrine carcinoma[accessedResource: DOID:5721][accessDate: 05-04-2011]
A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.[accessedResource: DOID:1967][accessDate: 05-04-2011]
A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)
A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)[accessedResource: MSH:D007890][accessDate: 05-04-2011]
An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.
An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.[accessedResource: NCIt:C3158][accessDate: 05-04-2011]
Epithelioid Leiomyosarcoma[accessedResource: MSH:D007890][accessDate: 05-04-2011]
Epithelioid Leiomyosarcomas[accessedResource: MSH:D007890][accessDate: 05-04-2011]
LMS - Leiomyosarcoma[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011]
Leiomyomosarcoma, no subtype (morphologic abnormality)
Leiomyomosarcoma, no subtype (morphologic abnormality)[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011]
Leiomyosarcoma, Epithelioid[accessedResource: MSH:D007890][accessDate: 05-04-2011]
Leiomyosarcoma, Myxoid[accessedResource: MSH:D007890][accessDate: 05-04-2011]
Leiomyosarcoma, NOS[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011]
Leiomyosarcoma, no subtype (morphologic abnormality)
Leiomyosarcoma, no subtype (morphologic abnormality)[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011]
Leiomyosarcoma, no subtype[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011]
Leiomyosarcomas, Epithelioid[accessedResource: MSH:D007890][accessDate: 05-04-2011]
Leiomyosarcomas, Myxoid[accessedResource: MSH:D007890][accessDate: 05-04-2011]
Leiomyosarcomas[accessedResource: NCIt:C3158][accessDate: 05-04-2011]
Myxoid Leiomyosarcoma[accessedResource: MSH:D007890][accessDate: 05-04-2011]
Myxoid Leiomyosarcomas[accessedResource: MSH:D007890][accessDate: 05-04-2011]
[M]Leiomyosarcoma NOS (morphologic abnormality)
[M]Leiomyosarcoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189790006][accessDate: 05-04-2011]
[M]Leiomyosarcoma NOS[accessedResource: SNOMEDCT:189790006][accessDate: 05-04-2011]
leiomyosarcoma NOS (morphologic abnormality)
leiomyosarcoma NOS (morphologic abnormality)[accessedResource: DOID:1967][accessDate: 05-04-2011]
A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.[accessedResource: DOID:1240][accessDate: 05-04-2011]
A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.
A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.[accessedResource: NCIt:C3161][accessDate: 05-04-2011]
A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)
A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)[accessedResource: MSH:D007938][accessDate: 05-04-2011]
Aleukaemic leukaemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Aleukemic leukemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Blood (Leukemia)[accessedResource: NCIt:C3161][accessDate: 05-04-2011]
Chronic leukaemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Chronic leukemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
LEUK NOS W/O ACHV RMSN[accessedResource: ICD9:208.90][accessDate: 05-04-2011]
Leukaemia NOS[accessedResource: SNOMEDCT:188767008][accessDate: 05-04-2011]
Leukaemia morphology[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Leukaemia of unspecified cell type[accessedResource: SNOMEDCT:188762002][accessDate: 05-04-2011]
Leukaemia, NOS, without mention of remission
Leukaemia, NOS, without mention of remission[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011]
Leukaemia, NOS[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Leukaemia, disease[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011]
Leukaemia, no ICD-O subtype[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Leukaemia[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011]
Leukemia NOS (disorder)[accessedResource: SNOMEDCT:188767008][accessDate: 05-04-2011]
Leukemia NOS[accessedResource: SNOMEDCT:188767008][accessDate: 05-04-2011]
Leukemia morphology[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Leukemia of unspecified cell type (disorder)
Leukemia of unspecified cell type (disorder)[accessedResource: SNOMEDCT:188762002][accessDate: 05-04-2011]
Leukemia of unspecified cell type[accessedResource: SNOMEDCT:188762002][accessDate: 05-04-2011]
Leukemia, NOS, without mention of remission
Leukemia, NOS, without mention of remission[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011]
Leukemia, NOS[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Leukemia, disease (disorder)[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011]
Leukemia, disease[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011]
Leukemia, morphology (morphologic abnormality)
Leukemia, morphology (morphologic abnormality)[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Leukemia, no ICD-O subtype (morphologic abnormality)
Leukemia, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Leukemia, no ICD-O subtype[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Leukemias, General[accessedResource: NCIt:C3161][accessDate: 05-04-2011]
Leukemias[accessedResource: MSH:D007938][accessDate: 05-04-2011]
OT LEU UN CL WO ACH RMSN[accessedResource: ICD9:208.80][accessDate: 05-04-2011]
OTH LEUK UNS CL W RMSON[accessedResource: ICD9:208.81][accessDate: 05-04-2011]
OTH LEUK W/O ACHV RMSN[accessedResource: ICD9:207.80][accessDate: 05-04-2011]
OTH SPF LEUK W REMSION[accessedResource: ICD9:207.81][accessDate: 05-04-2011]
Other leukaemia of unspecified cell type
Other leukaemia of unspecified cell type[accessedResource: SNOMEDCT:188766004][accessDate: 05-04-2011]
Other leukemia of unspecified cell type (disorder)
Other leukemia of unspecified cell type (disorder)[accessedResource: SNOMEDCT:188766004][accessDate: 05-04-2011]
Other leukemia of unspecified cell type in remission
Other leukemia of unspecified cell type in remission[accessedResource: ICD9:208.81][accessDate: 05-04-2011]
Other leukemia of unspecified cell type without mention of having achieved remission
Other leukemia of unspecified cell type without mention of having achieved remission[accessedResource: ICD9:208.80][accessDate: 05-04-2011]
Other leukemia of unspecified cell type without mention of remission
Other leukemia of unspecified cell type[accessedResource: ICD9:208.8][accessDate: 05-04-2011]
Other specified leukaemia NOS[accessedResource: SNOMEDCT:188761009][accessDate: 05-04-2011]
Other specified leukaemia[accessedResource: SNOMEDCT:188751002][accessDate: 05-04-2011]
Other specified leukemia (disorder)[accessedResource: SNOMEDCT:188751002][accessDate: 05-04-2011]
Other specified leukemia NOS (disorder)[accessedResource: SNOMEDCT:188761009][accessDate: 05-04-2011]
Other specified leukemia NOS[accessedResource: SNOMEDCT:188761009][accessDate: 05-04-2011]
Other specified leukemia in remission[accessedResource: ICD9:207.81][accessDate: 05-04-2011]
Other specified leukemia without mention of having achieved remission
Other specified leukemia without mention of having achieved remission[accessedResource: ICD9:207.80][accessDate: 05-04-2011]
Other specified leukemia without mention of remission
Other specified leukemia[accessedResource: ICD9:207][accessDate: 05-04-2011]
Subacute leukaemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
Subacute leukemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011]
This is potentially too broad as well as overlaps with lymphoma and should be obsoleted.
Unspecified leukemia without mention of having achieved remission
Unspecified leukemia without mention of having achieved remission[accessedResource: ICD9:208.90][accessDate: 05-04-2011]
Unspecified leukemia without mention of remission
Unspecified leukemia[accessedResource: ICD9:208.9][accessDate: 05-04-2011]
[M]Leukaemia NOS[accessedResource: SNOMEDCT:190025005][accessDate: 05-04-2011]
[M]Leukaemia unspecified, NOS[accessedResource: SNOMEDCT:190029004][accessDate: 05-04-2011]
[M]Leukaemias unspecified[accessedResource: SNOMEDCT:190024009][accessDate: 05-04-2011]
[M]Leukemia NOS[accessedResource: SNOMEDCT:190025005][accessDate: 05-04-2011]
[M]Leukemia unspecified, NOS[accessedResource: SNOMEDCT:190029004][accessDate: 05-04-2011]
[M]Leukemias unspecified[accessedResource: SNOMEDCT:190024009][accessDate: 05-04-2011]
[M]leukemia NOS (morphologic abnormality)
[M]leukemia NOS (morphologic abnormality)[accessedResource: SNOMEDCT:190025005][accessDate: 05-04-2011]
[M]leukemia unspecified, NOS (morphologic abnormality)
[M]leukemia unspecified, NOS (morphologic abnormality)[accessedResource: SNOMEDCT:190029004][accessDate: 05-04-2011]
[M]leukemias unspecified (morphologic abnormality)
[M]leukemias unspecified (morphologic abnormality)[accessedResource: SNOMEDCT:190024009][accessDate: 05-04-2011]
[X]Other leukaemia of unspecified cell type[accessedResource: SNOMEDCT:190162005][accessDate: 05-04-2011]
[X]Other leukemia of unspecified cell type (disorder)[accessedResource: SNOMEDCT:190162005][accessDate: 05-04-2011]
[X]Other leukemia of unspecified cell type[accessedResource: SNOMEDCT:190162005][accessDate: 05-04-2011]
[X]Other specified leukaemias[accessedResource: SNOMEDCT:190161003][accessDate: 05-04-2011]
[X]Other specified leukemias (disorder)[accessedResource: SNOMEDCT:190161003][accessDate: 05-04-2011]
[X]Other specified leukemias[accessedResource: SNOMEDCT:190161003][accessDate: 05-04-2011]
chronic leukemia - category (morphologic abnormality)
chronic leukemia of unspecified cell type
The photoperiod and type (e.g., natural, restricted wavelength) of light exposure.
A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.
A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.[accessedResource: DOID:3382][accessDate: 05-04-2011]
A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)
A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)[accessedResource: MSH:D008080][accessDate: 05-04-2011]
A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors.
A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors.[accessedResource: NCIt:C3194][accessDate: 05-04-2011]
Dedifferentiated Liposarcoma[accessedResource: MSH:D008080][accessDate: 05-04-2011]
Dedifferentiated Liposarcomas[accessedResource: MSH:D008080][accessDate: 05-04-2011]
Fibroliposarcoma[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011]
Liposarcoma (disorder)[accessedResource: DOID:3382][accessDate: 05-04-2011]
Liposarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011]
Liposarcoma NOS (morphologic abnormality)
Liposarcoma NOS (morphologic abnormality)[accessedResource: DOID:3382][accessDate: 05-04-2011]
Liposarcoma morphology[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011]
Liposarcoma, Dedifferentiated[accessedResource: MSH:D008080][accessDate: 05-04-2011]
Liposarcoma, NOS[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011]
Liposarcoma, Pleomorphic[accessedResource: MSH:D008080][accessDate: 05-04-2011]
Liposarcoma, no ICD-O subtype (morphologic abnormality)
Liposarcoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011]
Liposarcoma, no ICD-O subtype[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011]
Liposarcomas, Dedifferentiated[accessedResource: MSH:D008080][accessDate: 05-04-2011]
Liposarcomas, Pleomorphic[accessedResource: MSH:D008080][accessDate: 05-04-2011]
Liposarcomas[accessedResource: MSH:D008080][accessDate: 05-04-2011]
Pleomorphic Liposarcoma[accessedResource: MSH:D008080][accessDate: 05-04-2011]
Pleomorphic Liposarcomas[accessedResource: MSH:D008080][accessDate: 05-04-2011]
[M]Liposarcoma NOS (morphologic abnormality)
[M]Liposarcoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189777004][accessDate: 05-04-2011]
[M]Liposarcoma NOS[accessedResource: SNOMEDCT:189777004][accessDate: 05-04-2011]
An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.
Duplicate with invasive lobular carcinoma (EFO_0000553)
A carcinoma characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.
A carcinoma characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.[accessedResource: NCIt:C3512][accessDate: 05-04-2011]
Adenocarcinoma of Lung[accessedResource: NCIt:C3512][accessDate: 05-04-2011]
Adenocarcinoma of lung (disorder)[accessedResource: SNOMEDCT:254626006][accessDate: 05-04-2011]
Adenocarcinoma of the Lung[accessedResource: NCIt:C3512][accessDate: 05-04-2011]
An immature lymphocyte that has enlarged in response to antigenic stimulation.
An immature lymphocyte that has enlarged in response to antigenic stimulation.[accessedResource: NCIt:C13013][accessDate: 05-04-2011]
Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes.
Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes.[accessedResource: BTO:0000772][accessDate: 05-04-2011]
lymphoblastic[accessedResource: NCIt:C13013][accessDate: 05-04-2011]
A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
A general term for various neoplastic diseases of the lymphoid tissue.
A general term for various neoplastic diseases of the lymphoid tissue.[accessedResource: MSH:D008223][accessDate: 05-04-2011]
A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.
A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.[accessedResource: NCIt:C3208][accessDate: 05-04-2011]
Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease.
Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease.[accessedResource: MSH:D008228][accessDate: 05-04-2011]
DIFFUSE MIXED LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011]
DIFFUSE MIXED SMALL LARGE LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011]
DIFFUSE SMALL CLEAVED LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011]
DIFFUSE UNDIFFER LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Mixed Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Mixed Small and Large Cell Lymphoma
Diffuse Mixed Small and Large Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Mixed-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Mixed-Cell Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Small Cleaved Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Small Cleaved-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Undifferentiated Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Diffuse Undifferentiated Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Germinoblastic Sarcoma[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Germinoblastic Sarcomas[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Germinoblastoma[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Germinoblastomas[accessedResource: MSH:D008223][accessDate: 05-04-2011]
High-Grade Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
High-Grade Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Intermediate-Grade Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Intermediate-Grade Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA DIFFUSE MIXED LYMPHOCYTIC HISTIOCYTIC
LYMPHOMA DIFFUSE MIXED LYMPHOCYTIC HISTIOCYTIC[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA MIXED DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA MIXED SMALL LARGE DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA MIXED[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA SMALL CLEAVED DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA SMALL LARGE CLEAVED DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA SMALL NON CLEAVED[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA SMALL NONCLEAVED[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA UNDIFFER DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011]
LYMPHOMA UNDIFFER[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Low-Grade Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Low-Grade Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphatic Sarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphatic Sarcomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphocytic-Histiocytic Lymphoma, Mixed[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphocytic-Histiocytic Lymphomas, Mixed
Lymphocytic-Histiocytic Lymphomas, Mixed[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma (Hodgkin and Non-Hodgkin)[accessedResource: NCIt:C3208][accessDate: 05-04-2011]
Lymphoma (Hodgkin's and Non-Hodgkin's)[accessedResource: NCIt:C3208][accessDate: 05-04-2011]
Lymphoma (clinical)[accessedResource: SNOMEDCT:118600007][accessDate: 05-04-2011]
Lymphoma, Atypical Diffuse Small Lymphoid
Lymphoma, Atypical Diffuse Small Lymphoid[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Diffuse Mixed-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Diffuse Undifferentiated[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic
Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, High Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, High-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Intermediate Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Intermediate-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Low Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Low-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Malignant[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Lymphoma, Mixed Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Mixed Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Mixed Lymphocytic Histiocytic[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Mixed Small and Large Cell, Diffuse
Lymphoma, Mixed Small and Large Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Mixed-Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Mixed-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Mixed[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, NOS[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011]
Lymphoma, Non Hodgkin's[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Non Hodgkin[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Non Hodgkins[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Non-Hodgkin's[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Non-Hodgkin[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Non-Hodgkins[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Nonhodgkin's[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Nonhodgkin[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Nonhodgkins[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Pleomorphic[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Small Cleaved Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Small Cleaved-Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Small Non Cleaved Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Small Non-Cleaved-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Small Noncleaved Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Small Noncleaved-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Small and Large Cleaved-Cell, Diffuse
Lymphoma, Small and Large Cleaved-Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Undifferentiated, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphoma, Undifferentiated[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Diffuse Mixed-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Diffuse Undifferentiated[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, High-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Intermediate-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Low-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Malignant[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Lymphomas, Mixed Lymphocytic-Histiocytic
Lymphomas, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Mixed-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Mixed[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Pleomorphic[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Small Non-Cleaved-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Small Noncleaved-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas, Undifferentiated[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphomas[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Lymphosarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Lymphosarcomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
MIXED LYMPHOMA DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011]
MIXED SMALL LARGE LYMPHOMA DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Malignant Lymphomas[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Malignant lymphoma (clinical)[accessedResource: SNOMEDCT:118600007][accessDate: 05-04-2011]
Malignant lymphoma (disorder)[accessedResource: SNOMEDCT:118600007][accessDate: 05-04-2011]
Malignant lymphoma NOS (disorder)[accessedResource: SNOMEDCT:188694002][accessDate: 05-04-2011]
Malignant lymphoma NOS of unspecified site
Malignant lymphoma NOS of unspecified site (disorder)
Malignant lymphoma NOS of unspecified site (disorder)[accessedResource: SNOMEDCT:188695001][accessDate: 05-04-2011]
Malignant lymphoma NOS of unspecified site[accessedResource: SNOMEDCT:188695001][accessDate: 05-04-2011]
Malignant lymphoma NOS[accessedResource: SNOMEDCT:188694002][accessDate: 05-04-2011]
Malignant lymphoma, NOS[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011]
Malignant lymphoma, no ICD-O subtype (morphologic abnormality)
Malignant lymphoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011]
Malignant lymphoma, no ICD-O subtype[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011]
Malignant lymphoma[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011]
Microglioma [obs][accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011]
Mixed Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed Lymphocytic-Histiocytic Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed Lymphocytic-Histiocytic Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed Small and Large Cell Lymphoma, Diffuse
Mixed Small and Large Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed-Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed-Cell Lymphomas, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Mixed-Cell Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
NONHODGKIN LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Non Hodgkin Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Non Hodgkin's Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Non-Cleaved-Cell Lymphoma, Small[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Non-Cleaved-Cell Lymphomas, Small[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Non-Hodgkin Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Non-Hodgkin's Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Non-Hodgkins Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Noncleaved-Cell Lymphoma, Small[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Noncleaved-Cell Lymphomas, Small[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Nonhodgkin's Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Nonhodgkins Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Pleomorphic Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Pleomorphic Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Reticulolymphosarcoma[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Reticulolymphosarcomas[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Reticulosarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Reticulosarcomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Reticulum Cell Sarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Reticulum-Cell Sarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Reticulum-Cell Sarcomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
SMALL CLEAVED LYMPHOMA DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011]
SMALL NON CLEAVED LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Sarcoma, Germinoblastic[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Sarcoma, Lymphatic[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Sarcoma, Reticulum Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Sarcoma, Reticulum-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Sarcomas, Germinoblastic[accessedResource: MSH:D008223][accessDate: 05-04-2011]
Sarcomas, Lymphatic[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Sarcomas, Reticulum-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Small Cleaved Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Small Cleaved-Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Small Non Cleaved Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Small Non-Cleaved-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Small Non-Cleaved-Cell Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Small Noncleaved Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Small Noncleaved-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Small Noncleaved-Cell Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
This is potentially too broad as well as overlaps with leukemia and should be obsoleted.
UNDIFFER LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Undifferentiated Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Undifferentiated Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Undifferentiated Lymphomas, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011]
Undifferentiated Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011]
chronic wasting disease[accessedResource: DOID:353][accessDate: 05-04-2011]
Controlled terms for the state of the BioMaterial. Each state (BioSource, different BioSamples, and LabeledExtract) have MaterialTypes. Examples are population of an organism, organism, organism part, cell
population of an organism, organism, organism part, cell
redundant now and is synonymous to material entity
The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil).
An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.
An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.[accessedResource: NCIt:C9119][accessDate: 05-04-2011]
Infiltrating Medullary Carcinoma of Breast
Infiltrating Medullary Carcinoma of Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011]
Infiltrating Medullary Carcinoma of the Breast
Infiltrating Medullary Carcinoma of the Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011]
Invasive Medullary Breast Carcinoma[accessedResource: NCIt:C9119][accessDate: 05-04-2011]
Invasive Medullary Carcinoma of Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011]
Invasive Medullary Carcinoma of the Breast
Invasive Medullary Carcinoma of the Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011]
Medullary Carcinoma of Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011]
Medullary Carcinoma of the Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011]
Medullary breast carcinoma with lymphoid Stroma
Medullary breast carcinoma with lymphoid Stroma[accessedResource: DOID:5605][accessDate: 05-04-2011]
breast medullary carcinoma[accessedResource: DOID:5605][accessDate: 05-04-2011]
A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.
A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.[accessedResource: NCIt:C26828][accessDate: 05-04-2011]
Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6)
Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6)[accessedResource: MSH:D008581][accessDate: 05-04-2011]
MENINGITIS NOS[accessedResource: ICD9:322.9][accessDate: 05-04-2011]
Meningitides[accessedResource: MSH:D008581][accessDate: 05-04-2011]
Meningitis (disorder)[accessedResource: SNOMEDCT:7180009][accessDate: 05-04-2011]
Meningitis is a nervous system infection characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.
Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.
Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.[accessedResource: DOID:9471][accessDate: 05-04-2011]
Meningitis of unspecified cause (disorder)
Meningitis of unspecified cause (disorder)[accessedResource: SNOMEDCT:192678004][accessDate: 05-04-2011]
Meningitis of unspecified cause[accessedResource: ICD9:322][accessDate: 05-04-2011]
Meningitis, NOS[accessedResource: SNOMEDCT:7180009][accessDate: 05-04-2011]
Meningitis, unspecified[accessedResource: ICD9:322.9][accessDate: 05-04-2011]
Pachymeningitides[accessedResource: MSH:D008581][accessDate: 05-04-2011]
Pachymeningitis[accessedResource: MSH:D008581][accessDate: 05-04-2011]
Unspecified meningitis (disorder)[accessedResource: SNOMEDCT:192681009][accessDate: 05-04-2011]
Unspecified meningitis[accessedResource: SNOMEDCT:192681009][accessDate: 05-04-2011]
A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)
A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)[accessedResource: MSH:D008654][accessDate: 05-04-2011]
A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.
A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.[accessedResource: NCIt:C3234][accessDate: 05-04-2011]
Malignant mesothelioma[accessedResource: SNOMEDCT:62064005][accessDate: 05-04-2011]
Mesothelioma, NOS[accessedResource: SNOMEDCT:62064005][accessDate: 05-04-2011]
Mesothelioma, malignant (morphologic abnormality)
Mesothelioma, malignant (morphologic abnormality)[accessedResource: SNOMEDCT:62064005][accessDate: 05-04-2011]
Mesothelioma, malignant[accessedResource: SNOMEDCT:62064005][accessDate: 05-04-2011]
Mesothelioma, unspecified (disorder)[accessedResource: DOID:2645][accessDate: 05-04-2011]
Mesothelioma, unspecified (morphologic abnormality)
Mesothelioma, unspecified (morphologic abnormality)[accessedResource: DOID:2645][accessDate: 05-04-2011]
Mesotheliomas[accessedResource: MSH:D008654][accessDate: 05-04-2011]
[M]Mesothelioma, unspecified (morphologic abnormality)
[M]Mesothelioma, unspecified (morphologic abnormality)[accessedResource: SNOMEDCT:189837000][accessDate: 05-04-2011]
[M]Mesothelioma, unspecified[accessedResource: SNOMEDCT:189837000][accessDate: 05-04-2011]
[X]Mesothelioma, unspecified (disorder)[accessedResource: SNOMEDCT:190110008][accessDate: 05-04-2011]
[X]Mesothelioma, unspecified[accessedResource: SNOMEDCT:190110008][accessDate: 05-04-2011]
A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003
A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003[accessedResource: NCIt:C3235][accessDate: 05-04-2011]
A disease that involving errors in metabolic processes.
A disease that involving errors in metabolic processes.[accessedResource: DOID:0014667][accessDate: 05-04-2011]
DIS METAB[accessedResource: MSH:D008659][accessDate: 05-04-2011]
Disease, Metabolic[accessedResource: MSH:D008659][accessDate: 05-04-2011]
Diseases, Metabolic[accessedResource: MSH:D008659][accessDate: 05-04-2011]
Disorder of metabolism NOS (disorder)[accessedResource: SNOMEDCT:267456000][accessDate: 05-04-2011]
Disorder of metabolism NOS[accessedResource: SNOMEDCT:267456000][accessDate: 05-04-2011]
Generalised metabolic disorder[accessedResource: SNOMEDCT:30390004][accessDate: 05-04-2011]
Generalized metabolic disorder (disorder)
Generalized metabolic disorder (disorder)[accessedResource: SNOMEDCT:30390004][accessDate: 05-04-2011]
Generalized metabolic disorder[accessedResource: SNOMEDCT:30390004][accessDate: 05-04-2011]
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)[accessedResource: MSH:D008659][accessDate: 05-04-2011]
MD - Metabolic disorders[accessedResource: SNOMEDCT:75934005][accessDate: 05-04-2011]
METAB DIS[accessedResource: MSH:D008659][accessDate: 05-04-2011]
METABOLISM DISORDER NOS[accessedResource: ICD9:277.9][accessDate: 05-04-2011]
Metabolic Diseases[accessedResource: NCIt:C3235][accessDate: 05-04-2011]
Metabolic Disorder[accessedResource: NCIt:C3235][accessDate: 05-04-2011]
Metabolic disease (disorder)[accessedResource: SNOMEDCT:75934005][accessDate: 05-04-2011]
Metabolic disease, NOS[accessedResource: SNOMEDCT:75934005][accessDate: 05-04-2011]
Metabolic disorder, NOS[accessedResource: SNOMEDCT:75934005][accessDate: 05-04-2011]
Thesaurismoses[accessedResource: MSH:D008659][accessDate: 05-04-2011]
Thesaurismosis[accessedResource: MSH:D008659][accessDate: 05-04-2011]
Unspecified disorder of metabolism[accessedResource: ICD9:277.9][accessDate: 05-04-2011]
disease of metabolism[accessedResource: DOID:0014667][accessDate: 05-04-2011]
metabolic disease [accessedResource: DOID:0014667][accessDate: 05-04-2011]
Deficiencies, Oxidative Phosphorylation[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Deficiencies, Respiratory Chain[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Deficiency, Oxidative Phosphorylation[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Deficiency, Respiratory Chain[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Disease, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Disorder, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Disorders, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011]
ELECTRON TRANSPORT CHAIN DEFIC MITOCHONDRIAL
ELECTRON TRANSPORT CHAIN DEFIC MITOCHONDRIAL[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Electron Transport Chain Deficiencies, Mitochondrial
Electron Transport Chain Deficiencies, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011]
MITOCHONDRIAL DIS[accessedResource: MSH:D028361][accessDate: 05-04-2011]
MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC
MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Mitochondrial Disease[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Mitochondrial Diseases[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Mitochondrial Disorders[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Mitochondrial Electron Transport Chain Deficiencies
Mitochondrial Electron Transport Chain Deficiencies[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies[accessedResource: MSH:D028361][accessDate: 05-04-2011]
OX PHOS DEFIC[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Oxidative Phosphorylation Deficiencies[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Oxidative Phosphorylation Deficiency[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Phosphorylation Deficiencies, Oxidative[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Phosphorylation Deficiency, Oxidative[accessedResource: MSH:D028361][accessDate: 05-04-2011]
RESPIRATORY CHAIN DEFIC MITOCHONDRIAL[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Respiratory Chain Deficiencies, Mitochondrial
Respiratory Chain Deficiencies, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011]
Respiratory Chain Deficiency[accessedResource: MSH:D028361][accessDate: 05-04-2011]
mitochondrial disease/disorder[accessedResource: DOID:700][accessDate: 05-04-2011]
Reorganised according to Orphanet hierarchy
obsolete_mixed lobular and ductal breast carcinoma
Duplicate with invasive ductal and lobular carcinoma (EFO_0000552)
A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.
A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.[accessedResource: NCIt:C6534][accessDate: 05-04-2011]
Monophasic Sarcoma of Synovium[accessedResource: NCIt:C6534][accessDate: 05-04-2011]
monophasic sarcoma of the synovium[accessedResource: DOID:5495][accessDate: 05-04-2011]
A neuron with a motor function; an efferent neuron conveying motor impulses.
duplicate deprecated in favour of motor neurone
129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml
Simpson E. M., Linder C. C., Sargent E. E., Davisson M. T., Mobraaten L. E., and Sharp J. J. (1997) Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice. Nature Genet. 16, 19-27.
129S6 is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml
129S6/SvEvTac[accessedResource: NIFSTD:birnlex_174][accessDate: 05-04-2011]
129/Sv is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml
129X1/SvJ is a substrain of the mouse strain 129 as described in Jackson Laboratory http://jaxmice.jax.org/strain/000691.html Note this strain was formerly called 129X1
129xC57BL/6 is a substrain of the mouse strain 129 as described in article PUBMED ID 15015938
BALB/c is a mouse strain of albion mice.
BALBc[accessedResource: NIFSTD:birnlex_206][accessDate: 05-04-2011]
BALB is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/001026.html
C57BL/10 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/searches/reference.cgi?7550
C57BL/6 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/external/festing/mouse/docs/C57BL.shtml
C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7
C57BL6J[accessedResource: NIFSTD:birnlex_393][accessDate: 05-04-2011]
consolidation of strains with organism taxon. mouse strain subclasses are moved to mus musculus subclasses
Attack - heart[accessedResource: DOID:5844][accessDate: 05-04-2011]
Cardiac infarction, NOS[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
Cardiac infarction[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.
Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.[accessedResource: NCIt:C27996][accessDate: 05-04-2011]
Heart attack, NOS[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
Heart attack[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
INFARCTION (MI), MYOCARDIAL[accessedResource: NCIt:C27996][accessDate: 05-04-2011]
Infarct, Myocardial[accessedResource: MSH:D009203][accessDate: 05-04-2011]
Infarction of heart, NOS[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
Infarction of heart[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
Infarction, Myocardial[accessedResource: MSH:D009203][accessDate: 05-04-2011]
Infarctions, Myocardial[accessedResource: MSH:D009203][accessDate: 05-04-2011]
Infarcts, Myocardial[accessedResource: MSH:D009203][accessDate: 05-04-2011]
MI - Myocardial infarction[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
MI, MYOCARDIAL INFARCTION[accessedResource: NCIt:C27996][accessDate: 05-04-2011]
MI[accessedResource: NCIt:C27996][accessDate: 05-04-2011]
MYOCARDIAL INFARCTION, (MI)[accessedResource: NCIt:C27996][accessDate: 05-04-2011]
Myocardial Infarct[accessedResource: MSH:D009203][accessDate: 05-04-2011]
Myocardial Infarctions[accessedResource: MSH:D009203][accessDate: 05-04-2011]
Myocardial Infarcts[accessedResource: MSH:D009203][accessDate: 05-04-2011]
Myocardial infarction (disorder)[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
Myocardial infarction NOS[accessedResource: DOID:5844][accessDate: 05-04-2011]
Myocardial infarction, NOS[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011]
NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).
NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).[accessedResource: MSH:D009203][accessDate: 05-04-2011]
A liposarcoma containing myxomatous tissue. (Dorland, 27th ed)
A liposarcoma containing myxomatous tissue. (Dorland, 27th ed)[accessedResource: MSH:D018208][accessDate: 05-04-2011]
Liposarcoma, Myxoid[accessedResource: MSH:D018208][accessDate: 05-04-2011]
Liposarcomas, Myxoid[accessedResource: MSH:D018208][accessDate: 05-04-2011]
Myxoid Liposarcomas[accessedResource: MSH:D018208][accessDate: 05-04-2011]
Myxoid liposarcoma (disorder)[accessedResource: SNOMEDCT:404069006][accessDate: 05-04-2011]
Myxoid liposarcoma (morphologic abnormality)
Myxoid liposarcoma (morphologic abnormality)[accessedResource: DOID:5363][accessDate: 05-04-2011]
Myxoliposarcoma[accessedResource: SNOMEDCT:27849002][accessDate: 05-04-2011]
The most common type of liposarcoma. It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.
The most common type of liposarcoma. It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.[accessedResource: NCIt:C3735][accessDate: 05-04-2011]
A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)
A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Gelineau Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Gelineau's Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Gelineau's Syndromes[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Gelineaus Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Narcolepsy (disorder)[accessedResource: DOID:8986][accessDate: 05-04-2011]
Narcolepsy Cataplexy Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Narcolepsy NOS[accessedResource: DOID:8986][accessDate: 05-04-2011]
Narcolepsy, without cataplexy[accessedResource: DOID:8986][accessDate: 05-04-2011]
Narcolepsy-Cataplexy Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Narcolepsy-Cataplexy Syndromes[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Narcoleptic Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Narcoleptic Syndromes[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Sleep, Paroxysmal[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Syndrome, Gelineau's[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Syndrome, Gelineau[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Syndrome, Narcolepsy-Cataplexy[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Syndrome, Narcoleptic[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Syndromes, Gelineau's[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Syndromes, Narcolepsy-Cataplexy[accessedResource: MSH:D009290][accessDate: 05-04-2011]
Syndromes, Narcoleptic[accessedResource: MSH:D009290][accessDate: 05-04-2011]
paroxysmal sleep[accessedResource: DOID:8986][accessDate: 05-04-2011]
A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.
A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.[accessedResource: NCIt:C3262][accessDate: 05-04-2011]
NEOPLASMS BENIGN, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS)
NEOPLASMS BENIGN, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS)[accessedResource: NCIt:C3262][accessDate: 05-04-2011]
NEOPL[accessedResource: MSH:D009369][accessDate: 05-04-2011]
Neoplasia[accessedResource: NCIt:C3262][accessDate: 05-04-2011]
Neoplasm, Benign[accessedResource: MSH:D009369][accessDate: 05-04-2011]
Neoplasms, Benign[accessedResource: MSH:D009369][accessDate: 05-04-2011]
Neoplasms[accessedResource: NCIt:C3262][accessDate: 05-04-2011]
Neoplastic Growth[accessedResource: NCIt:C3262][accessDate: 05-04-2011]
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.[accessedResource: MSH:D009369][accessDate: 05-04-2011]
Tumor[accessedResource: NCIt:C3262][accessDate: 05-04-2011]
Tumors[accessedResource: MSH:D009369][accessDate: 05-04-2011]
Detected as synonym for neuron, deprecated in favour of it.
Central Nervous System Disease[accessedResource: NCIt:C2934][accessDate: 05-04-2011]
Central Nervous System Disorder[accessedResource: NCIt:C2934][accessDate: 05-04-2011]
(neuroblastoma NOS) or (sympathicoblastoma)
(neuroblastoma NOS) or (sympathicoblastoma)[accessedResource: DOID:769][accessDate: 05-04-2011]
A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).
A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).[accessedResource: NIFSTD:birnlex_12631][accessDate: 05-04-2011]
A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)
A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)[accessedResource: MSH:D009447][accessDate: 05-04-2011]
A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.
A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.[accessedResource: NCIt:C3270][accessDate: 05-04-2011]
Central neuroblastoma[accessedResource: SNOMEDCT:87364003][accessDate: 05-04-2011]
NB - Neuroblastoma[accessedResource: SNOMEDCT:87364003][accessDate: 05-04-2011]
Neuroblastoma, NOS[accessedResource: SNOMEDCT:87364003][accessDate: 05-04-2011]
Neuroblastomas[accessedResource: MSH:D009447][accessDate: 05-04-2011]
Sympathicoblastoma[accessedResource: SNOMEDCT:87364003][accessDate: 05-04-2011]
[M]Neuroblastoma NOS (morphologic abnormality)
[M]Neuroblastoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:269507008][accessDate: 05-04-2011]
[M]Neuroblastoma NOS[accessedResource: SNOMEDCT:269507008][accessDate: 05-04-2011]
neuroblastoma (Schwannian Stroma-Poor)[accessedResource: DOID:769][accessDate: 05-04-2011]
neuroblastoma (morphologic abnormality)[accessedResource: DOID:769][accessDate: 05-04-2011]
neuroblastoma NOS (morphologic abnormality)
neuroblastoma NOS (morphologic abnormality)[accessedResource: DOID:769][accessDate: 05-04-2011]
A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH).
A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH).[accessedResource: NIFSTD:birnlex_12604][accessDate: 05-04-2011]
A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)
A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)[accessedResource: MSH:D009455][accessDate: 05-04-2011]
An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.
An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.[accessedResource: NCIt:C3272][accessDate: 05-04-2011]
Nerve sheath tumor (morphologic abnormality)
Nerve sheath tumor (morphologic abnormality)[accessedResource: SNOMEDCT:115242003][accessDate: 05-04-2011]
Nerve sheath tumor[accessedResource: SNOMEDCT:115242003][accessDate: 05-04-2011]
Nerve sheath tumour[accessedResource: SNOMEDCT:115242003][accessDate: 05-04-2011]
Neurofibroma (WHO Grade I)[accessedResource: NCIt:C3272][accessDate: 05-04-2011]
Neurofibroma (disorder)[accessedResource: SNOMEDCT:404029005][accessDate: 05-04-2011]
Neurofibroma (morphologic abnormality)[accessedResource: SNOMEDCT:89084002][accessDate: 05-04-2011]
Neurofibroma NOS (morphologic abnormality)
Neurofibroma, NOS[accessedResource: SNOMEDCT:89084002][accessDate: 05-04-2011]
Neurofibroma, no ICD-O subtype (morphologic abnormality)
Neurofibroma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:89084002][accessDate: 05-04-2011]
Neurofibroma, no ICD-O subtype[accessedResource: SNOMEDCT:89084002][accessDate: 05-04-2011]
Neurofibromas[accessedResource: MSH:D009455][accessDate: 05-04-2011]
[M]Neurofibroma NOS (morphologic abnormality)
[M]Neurofibroma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189947001][accessDate: 05-04-2011]
[M]Neurofibroma NOS[accessedResource: SNOMEDCT:189947001][accessDate: 05-04-2011]
[M]Neurofibromas[accessedResource: SNOMEDCT:115242003][accessDate: 05-04-2011]
Mole NOS[accessedResource: DOID:2681][accessDate: 05-04-2011]
Mole of skin[accessedResource: DOID:2681][accessDate: 05-04-2011]
nevus (disorder)[accessedResource: DOID:2681][accessDate: 05-04-2011]
nevus, NOS[accessedResource: DOID:2681][accessDate: 05-04-2011]
skin mole, NOS[accessedResource: DOID:2681][accessDate: 05-04-2011]
The type of nucleic acid obtained as a result of following a given protocol.
The scalar number of injections administered to a material or organism.
The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions
A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)
A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)[accessedResource: NCIt:C4050][accessDate: 05-04-2011]
A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)
A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Adult Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Adult Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Anaplastic Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Anaplastic Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Childhood Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Childhood Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Mixed Astrocytic-Oligodendroglial Neoplasm
Mixed Astrocytic-Oligodendroglial Neoplasm[accessedResource: NCIt:C4050][accessDate: 05-04-2011]
Mixed Astrocytic-Oligodendroglial Tumor[accessedResource: NCIt:C4050][accessDate: 05-04-2011]
Mixed Astrocytoma-Oligodendroglioma[accessedResource: NCIt:C4050][accessDate: 05-04-2011]
Mixed Oligo-Astrocytoma[accessedResource: NCIt:C4050][accessDate: 05-04-2011]
Mixed Oligodendroglioma Astrocytoma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Mixed Oligodendroglioma Ependymoma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Mixed Oligodendroglioma-Astrocytoma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Mixed Oligodendroglioma-Astrocytomas[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Mixed Oligodendroglioma-Ependymoma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Mixed Oligodendroglioma-Ependymomas[accessedResource: MSH:D009837][accessDate: 05-04-2011]
OLIGODENDROGLIOMA WELL DIFFER[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroblastoma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroblastomas[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma, Adult[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma, Anaplastic[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma, Childhood[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma, Well Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma, Well-Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma-Astrocytoma, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma-Astrocytomas, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma-Ependymoma, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma-Ependymomas, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendrogliomas, Adult[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendrogliomas, Anaplastic[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendrogliomas, Childhood[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendrogliomas, Well-Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011]
WELL DIFFER OLIGODENDROGLIOMA[accessedResource: MSH:D009837][accessDate: 05-04-2011]
WHO Grade II Mixed Glioma[accessedResource: NCIt:C4050][accessDate: 05-04-2011]
Well Differentiated Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Well-Differentiated Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Well-Differentiated Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011]
Duplicate with oligoastrocytoma (EFO_0000630) use this instead
A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).
A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).[accessedResource: NIFSTD:birnlex_12627][accessDate: 05-04-2011]
A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor of adults, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). It generally recurs locally, with median post-operative survival times ranging from 3 to 5 years for patients with all histological grades. (Adapted from WHO.)
A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)
A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)
A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)[accessedResource: NCIt:C3288][accessDate: 05-04-2011]
Mixed Oligodendroglioma-Astrocytoma[accessedResource: NIFSTD:birnlex_12627][accessDate: 05-04-2011]
Oligodendroglioma (morphologic abnormality)
Oligodendroglioma (morphologic abnormality)[accessedResource: SNOMEDCT:73348003][accessDate: 05-04-2011]
Oligodendroglioma NOS (morphologic abnormality)
Oligodendroglioma NOS (morphologic abnormality)[accessedResource: DOID:3181][accessDate: 05-04-2011]
Oligodendroglioma, NOS[accessedResource: SNOMEDCT:73348003][accessDate: 05-04-2011]
Oligodendroglioma, no ICD-O subtype (morphologic abnormality)
Oligodendroglioma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:73348003][accessDate: 05-04-2011]
Oligodendroglioma, no ICD-O subtype[accessedResource: SNOMEDCT:73348003][accessDate: 05-04-2011]
WHO Grade II Oligodendroglial Neoplasm[accessedResource: NCIt:C3288][accessDate: 05-04-2011]
WHO Grade II Oligodendroglial Tumor[accessedResource: NCIt:C3288][accessDate: 05-04-2011]
Well Differentiated Oligodendroglial Tumor
Well Differentiated Oligodendroglial Tumor[accessedResource: NCIt:C3288][accessDate: 05-04-2011]
[M]Oligodendroglioma NOS (morphologic abnormality)
[M]Oligodendroglioma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189920006][accessDate: 05-04-2011]
[M]Oligodendroglioma NOS[accessedResource: SNOMEDCT:189920006][accessDate: 05-04-2011]
A measurement of the effects of different investigators, laboratories, or organizations on experimental results are studied.
OperatorVariation[accessedResource: MO_38][accessDate: 05-04-2011]
The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm).
organism_part[accessedResource: MO_954][accessDate: 05-04-2011]
tissue, organ, system, sperm, blood or body location (arm).
The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. e.g. alive or dead
A malignant mesenchymal tumor arising from the bone.
A malignant mesenchymal tumor arising from the bone.[accessedResource: NCIt:C9312][accessDate: 05-04-2011]
A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)
A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)[accessedResource: MSH:D012516][accessDate: 05-04-2011]
A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.
A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.[accessedResource: NCIt:C9145][accessDate: 05-04-2011]
Bone Sarcoma[accessedResource: NCIt:C9312][accessDate: 05-04-2011]
Osseous Sarcoma[accessedResource: NCIt:C9312][accessDate: 05-04-2011]
Osteoblastic osteosarcoma[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011]
Osteoblastic sarcoma[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011]
Osteochondrosarcoma[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011]
Osteogenic Sarcomas[accessedResource: MSH:D012516][accessDate: 05-04-2011]
Osteogenic sarcoma, NOS[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011]
Osteogenic sarcoma[accessedResource: DOID:3347][accessDate: 05-04-2011]
Osteosarcoma - disorder[accessedResource: SNOMEDCT:307576001][accessDate: 05-04-2011]
Osteosarcoma Tumor[accessedResource: MSH:D012516][accessDate: 05-04-2011]
Osteosarcoma Tumors[accessedResource: MSH:D012516][accessDate: 05-04-2011]
Osteosarcoma of bone (disorder)[accessedResource: SNOMEDCT:307576001][accessDate: 05-04-2011]
Osteosarcoma of bone[accessedResource: SNOMEDCT:307576001][accessDate: 05-04-2011]
Osteosarcoma, NOS[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011]
Osteosarcoma, no ICD-O subtype (morphologic abnormality)
Osteosarcoma, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3347][accessDate: 05-04-2011]
Osteosarcoma, no ICD-O subtype[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011]
Osteosarcomas[accessedResource: MSH:D012516][accessDate: 05-04-2011]
Sarcoma of Bone[accessedResource: NCIt:C9312][accessDate: 05-04-2011]
Sarcoma of the Bone[accessedResource: NCIt:C9312][accessDate: 05-04-2011]
Sarcoma, Osteogenic[accessedResource: MSH:D012516][accessDate: 05-04-2011]
Sarcomas, Osteogenic[accessedResource: MSH:D012516][accessDate: 05-04-2011]
Skeletal sarcoma[accessedResource: DOID:3347][accessDate: 05-04-2011]
Tumor, Osteosarcoma[accessedResource: MSH:D012516][accessDate: 05-04-2011]
Tumors, Osteosarcoma[accessedResource: MSH:D012516][accessDate: 05-04-2011]
[M]Osteosarcoma NOS[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011]
osteoid sarcoma[accessedResource: DOID:3347][accessDate: 05-04-2011]
A measurement of the survival rate for a group of individuals suffering from a disease.
A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.
A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.[accessedResource: NCIt:C3777][accessDate: 05-04-2011]
An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface.
An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface.[accessedResource: MSH:D018283][accessDate: 05-04-2011]
Cystadenocarcinoma, Papillary[accessedResource: MSH:D018283][accessDate: 05-04-2011]
Cystadenocarcinomas, Papillary[accessedResource: MSH:D018283][accessDate: 05-04-2011]
Papillary Cystadenocarcinomas[accessedResource: MSH:D018283][accessDate: 05-04-2011]
Papillary cystadenocarcinoma (morphologic abnormality)
Papillary cystadenocarcinoma (morphologic abnormality)[accessedResource: DOID:3110][accessDate: 05-04-2011]
Papillary cystadenocarcinoma, NOS (morphologic abnormality)
Papillary cystadenocarcinoma, NOS (morphologic abnormality)[accessedResource: DOID:3110][accessDate: 05-04-2011]
Papillary cystadenocarcinoma, NOS[accessedResource: SNOMEDCT:2735009][accessDate: 05-04-2011]
Papillocystic adenocarcinoma[accessedResource: SNOMEDCT:2735009][accessDate: 05-04-2011]
[M]Papillary cystadenocarcinoma, NOS (morphologic abnormality)
[M]Papillary cystadenocarcinoma, NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189687009][accessDate: 05-04-2011]
[M]Papillary cystadenocarcinoma, NOS[accessedResource: SNOMEDCT:189687009][accessDate: 05-04-2011]
Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma. -- 2003
Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma. -- 2003[accessedResource: NCIt:C6975][accessDate: 05-04-2011]
Chromophil Carcinoma of the Kidney[accessedResource: NCIt:C6975][accessDate: 05-04-2011]
Chromophil Renal Cell Carcinoma[accessedResource: NCIt:C6975][accessDate: 05-04-2011]
Chromophil carcinoma of kidney[accessedResource: DOID:4465][accessDate: 05-04-2011]
Papillary (Chromophil) Renal Cell Carcinoma
Papillary (Chromophil) Renal Cell Carcinoma[accessedResource: NCIt:C6975][accessDate: 05-04-2011]
Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages.
Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages.[accessedResource: DOID:4465][accessDate: 05-04-2011]
A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.
A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
PTC - Papillary thyroid carcinoma[accessedResource: SNOMEDCT:255029007][accessDate: 05-04-2011]
Papillary Cancer of Thyroid Gland[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary Cancer of Thyroid[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary Cancer of the Thyroid Gland[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary Cancer of the Thyroid[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary Carcinoma of Thyroid Gland[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary Carcinoma of the Thyroid Gland
Papillary Carcinoma of the Thyroid Gland[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary Carcinoma of the Thyroid[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary Thyroid Cancer[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary Thyroid Gland Carcinoma[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Papillary adenocarcinoma (morphologic abnormality)
Papillary adenocarcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:4797003][accessDate: 05-04-2011]
Papillary adenocarcinoma, NOS[accessedResource: SNOMEDCT:4797003][accessDate: 05-04-2011]
Papillary adenocarcinoma[accessedResource: SNOMEDCT:4797003][accessDate: 05-04-2011]
Papillary carcinoma of thyroid[accessedResource: DOID:3969][accessDate: 05-04-2011]
Papillary renal cell carcinoma[accessedResource: SNOMEDCT:4797003][accessDate: 05-04-2011]
Papillary thyroid carcinoma (disorder)[accessedResource: SNOMEDCT:255029007][accessDate: 05-04-2011]
Thyroid Gland Papillary Carcinoma[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
Thyroid Papillary Carcinoma[accessedResource: NCIt:C4035][accessDate: 05-04-2011]
A biological agent that causes disease or illness to its host
PathogenTest[accessedResource: MO_184][accessDate: 05-04-2011]
Tests and results for pathogens infecting organism from which the biosource is derived
An individual who does some experimental process.
Chronic pericementitis[accessedResource: SNOMEDCT:196365008][accessDate: 05-04-2011]
Chronic periodontitis NOS[accessedResource: SNOMEDCT:196369002][accessDate: 05-04-2011]
Chronic periodontitis[accessedResource: ICD9:523.4][accessDate: 05-04-2011]
Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)
Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)[accessedResource: MSH:D010518][accessDate: 05-04-2011]
Pericementitides[accessedResource: MSH:D010518][accessDate: 05-04-2011]
Pericementitis[accessedResource: MSH:D010518][accessDate: 05-04-2011]
Periodontitides[accessedResource: MSH:D010518][accessDate: 05-04-2011]
Periodontitis (disorder)[accessedResource: DOID:824][accessDate: 05-04-2011]
Periodontitis, NOS[accessedResource: SNOMEDCT:41565005][accessDate: 05-04-2011]
chronic pericementitis (disorder)[accessedResource: DOID:824][accessDate: 05-04-2011]
chronic periodontitis (disorder)[accessedResource: DOID:824][accessDate: 05-04-2011]
chronic periodontitis NOS (disorder)[accessedResource: DOID:824][accessDate: 05-04-2011]
A commensal Alcaligenaceae infectious disease and is_a respiratory system disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis.
A commensal Alcaligenaceae infectious disease and is_a respiratory system disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis.[accessedResource: DOID:1116][accessDate: 05-04-2011]
A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath.
A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath.[accessedResource: MSH:D014917][accessDate: 05-04-2011]
A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis.
BORDETELLA PERTUSSIS[accessedResource: ICD9:033.0][accessDate: 05-04-2011]
Bordetella pertussis Infection, Respiratory
Bordetella pertussis Infection, Respiratory[accessedResource: MSH:D014917][accessDate: 05-04-2011]
Cough, Whooping[accessedResource: MSH:D014917][accessDate: 05-04-2011]
Infection due to Bordetella pertussis[accessedResource: SNOMEDCT:27836007][accessDate: 05-04-2011]
Pertusses[accessedResource: MSH:D014917][accessDate: 05-04-2011]
Pertussis (disorder)[accessedResource: SNOMEDCT:27836007][accessDate: 05-04-2011]
Pertussis[accessedResource: MSH:D014917][accessDate: 05-04-2011]
WC - Whooping cough[accessedResource: DOID:1116][accessDate: 05-04-2011]
Whooping cough due to bordetella pertussis [B. pertussis]
Whooping cough due to bordetella pertussis [B. pertussis][accessedResource: ICD9:033.0][accessDate: 05-04-2011]
Whooping cough due to unspecified organism
Whooping cough, NOS[accessedResource: SNOMEDCT:27836007][accessDate: 05-04-2011]
bordetella infection[accessedResource: DOID:1116][accessDate: 05-04-2011]
The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease. The detectable outward manifestations of a specific genotype.
A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.
A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.[accessedResource: NCIt:C2977][accessDate: 05-04-2011]
A type of connective tissue neoplasm arising from intralobular stroma of the BREAST. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS.
A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known.
A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known.[accessedResource: MSH:D003557][accessDate: 05-04-2011]
CSP[accessedResource: NCIt:C2977][accessDate: 05-04-2011]
Cystosarcoma Phyllodes, Malignant[accessedResource: MSH:D003557][accessDate: 05-04-2011]
Cystosarcoma Phyllodes[accessedResource: MSH:D003557][accessDate: 05-04-2011]
Cystosarcoma Phylloides[accessedResource: MSH:D003557][accessDate: 05-04-2011]
Cystosarcoma phyllodes NOS (morphologic abnormality)
Cystosarcoma phyllodes NOS (morphologic abnormality)[accessedResource: DOID:2608][accessDate: 05-04-2011]
Cystosarcoma phyllodes, NOS[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011]
Malignant Cystosarcoma Phyllodes[accessedResource: MSH:D003557][accessDate: 05-04-2011]
Phyllodes Neoplasm[accessedResource: NCIt:C2977][accessDate: 05-04-2011]
Phyllodes Tumors[accessedResource: MSH:D003557][accessDate: 05-04-2011]
Phyllodes tumor, NOS[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011]
Phyllodes tumor, borderline (morphologic abnormality)
Phyllodes tumor, borderline (morphologic abnormality)[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011]
Phyllodes tumor, borderline[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011]
Phyllodes tumour, borderline[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011]
Phyllodes tumour[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011]
Tumor, Phyllodes[accessedResource: MSH:D003557][accessDate: 05-04-2011]
Tumors, Phyllodes[accessedResource: MSH:D003557][accessDate: 05-04-2011]
[M]Cystosarcoma phyllodes NOS (morphologic abnormality)
[M]Cystosarcoma phyllodes NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189825002][accessDate: 05-04-2011]
[M]Cystosarcoma phyllodes NOS[accessedResource: SNOMEDCT:189825002][accessDate: 05-04-2011]
The specific version (such as manufacturer, model, etc.) of a technology that is used to carry out a laboratory or computational experiment.
obsolete platform because the distinction between instrument and platform is very fuzzy
A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH).
A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH).[accessedResource: NIFSTD:birnlex_12606][accessDate: 05-04-2011]
A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)
A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)[accessedResource: MSH:D018318][accessDate: 05-04-2011]
An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)
An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)[accessedResource: NCIt:C3797][accessDate: 05-04-2011]
Elephantiasis Neuromatoses[accessedResource: MSH:D018318][accessDate: 05-04-2011]
Elephantiasis Neuromatosis[accessedResource: NIFSTD:birnlex_12606][accessDate: 05-04-2011]
Neurofibroma, Plexiform[accessedResource: NIFSTD:birnlex_12606][accessDate: 05-04-2011]
Neurofibromas, Plexiform[accessedResource: MSH:D018318][accessDate: 05-04-2011]
Neuroma, Plexiform[accessedResource: MSH:D018318][accessDate: 05-04-2011]
Neuromas, Plexiform[accessedResource: MSH:D018318][accessDate: 05-04-2011]
Pachydermatocele[accessedResource: NIFSTD:birnlex_12606][accessDate: 05-04-2011]
Pachydermatoceles[accessedResource: MSH:D018318][accessDate: 05-04-2011]
Plexiform Neurofibromas[accessedResource: MSH:D018318][accessDate: 05-04-2011]
Plexiform Neuroma[accessedResource: MSH:D018318][accessDate: 05-04-2011]
Plexiform Neuromas[accessedResource: MSH:D018318][accessDate: 05-04-2011]
Plexiform neurofibroma (disorder)[accessedResource: SNOMEDCT:403818001][accessDate: 05-04-2011]
Plexiform neurofibroma (morphologic abnormality)
Plexiform neurofibroma (morphologic abnormality)[accessedResource: SNOMEDCT:41252002][accessDate: 05-04-2011]
Tumor Royale[accessedResource: MSH:D018318][accessDate: 05-04-2011]
The number of single sets of chromosomes in the cell or an organism e.g., haploid, diploid, triploid, etc.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Cystic disease of ovaries[accessedResource: SNOMEDCT:69878008][accessDate: 05-04-2011]
Multicystic ovaries[accessedResource: DOID:11612][accessDate: 05-04-2011]
Ovarian Degeneration, Sclerocystic[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Ovarian Syndrome, Polycystic[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Ovarian Syndromes, Polycystic[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Ovaries, Sclerocystic[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Ovary Syndrome, Polycystic[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Ovary, Sclerocystic[accessedResource: MSH:D011085][accessDate: 05-04-2011]
PCO - Polycystic ovaries[accessedResource: SNOMEDCT:69878008][accessDate: 05-04-2011]
PCOD - Polycystic ovarian disease[accessedResource: SNOMEDCT:69878008][accessDate: 05-04-2011]
PCOS - Polycystic ovarian syndrome[accessedResource: SNOMEDCT:69878008][accessDate: 05-04-2011]
PCOS[accessedResource: DOID:11612][accessDate: 05-04-2011]
Polycystic Ovarian Syndrome[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Polycystic Ovarian disease[accessedResource: DOID:11612][accessDate: 05-04-2011]
Polycystic ovaries (disorder)[accessedResource: DOID:11612][accessDate: 05-04-2011]
Polycystic ovaries[accessedResource: ICD9:256.4][accessDate: 05-04-2011]
Sclerocystic Ovarian Degeneration[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Sclerocystic Ovaries[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Sclerocystic Ovary Syndrome[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Sclerocystic Ovary[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Stein Leventhal Syndrome[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Stein-Leventhal synd.[accessedResource: DOID:11612][accessDate: 05-04-2011]
Stein-Leventhal syndrome[accessedResource: DOID:11612][accessDate: 05-04-2011]
Syndrome, Polycystic Ovary[accessedResource: MSH:D011085][accessDate: 05-04-2011]
Syndrome, Stein-Leventhal[accessedResource: MSH:D011085][accessDate: 05-04-2011]
polycystic ovary[accessedResource: DOID:11612][accessDate: 05-04-2011]
A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin.
A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Cells are also differentiated from other granulocytes by a small nuclear-to-cytoplasm ratio (1:3). This cell type is CD49d-positive.
Any fully developed granular leukocyte whose nucleus contains multiple lobes joined by filamentous connections, especially a neutrophil.
broad synonym for a number of heamatological cells
A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.
A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004
A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.[accessedResource: NCIt:C3340][accessDate: 05-04-2011]
Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.
Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.[accessedResource: MSH:D011127][accessDate: 05-04-2011]
Polyps[accessedResource: MSH:D011127][accessDate: 05-04-2011]
A mix of specimens from multiple individuals.
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.[accessedResource: MSH:D011164][accessDate: 05-04-2011]
DIS PORPHYRIN METABOLISM[accessedResource: ICD9:277.1][accessDate: 05-04-2011]
Disorder of porphyrin and haem metabolism
Disorder of porphyrin and haem metabolism[accessedResource: SNOMEDCT:29094004][accessDate: 05-04-2011]
Disorder of porphyrin and heme metabolism
Disorder of porphyrin and heme metabolism[accessedResource: SNOMEDCT:29094004][accessDate: 05-04-2011]
Disorder of porphyrin metabolism, NOS[accessedResource: SNOMEDCT:29094004][accessDate: 05-04-2011]
Disorder of porphyrin metabolism[accessedResource: SNOMEDCT:29094004][accessDate: 05-04-2011]
Disorders of porphyrin metabolism (disorder)
Disorders of porphyrin metabolism[accessedResource: ICD9:277.1][accessDate: 05-04-2011]
Hematoporphyria[accessedResource: DOID:13268][accessDate: 05-04-2011]
Porphyria (disorder)[accessedResource: DOID:13268][accessDate: 05-04-2011]
Porphyria NOS (disorder)[accessedResource: SNOMEDCT:190916001][accessDate: 05-04-2011]
Porphyria NOS[accessedResource: SNOMEDCT:190916001][accessDate: 05-04-2011]
Porphyrias[accessedResource: MSH:D011164][accessDate: 05-04-2011]
Porphyrinopathy (disorder)[accessedResource: DOID:13268][accessDate: 05-04-2011]
Porphyrinopathy[accessedResource: SNOMEDCT:371628009][accessDate: 05-04-2011]
disorder of porphyrin and hem metabolism
disorder of porphyrin and hem metabolism[accessedResource: DOID:13268][accessDate: 05-04-2011]
disorder of porphyrin metabolism (disorder)
disorder of porphyrin metabolism (disorder)[accessedResource: DOID:13268][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_657' instead. New Label : Porphyria
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.[accessedResource: MSH:D006975][accessDate: 05-04-2011]
Cruveilhier Baumgarten Syndrome[accessedResource: MSH:D006975][accessDate: 05-04-2011]
Cruveilhier-Baumgarten Syndrome[accessedResource: MSH:D006975][accessDate: 05-04-2011]
Hypertension, Portal[accessedResource: MSH:D006975][accessDate: 05-04-2011]
Hypertensions, Portal[accessedResource: MSH:D006975][accessDate: 05-04-2011]
Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS.
Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS.[accessedResource: MSH:D006975][accessDate: 05-04-2011]
PHT - Portal hypertension[accessedResource: SNOMEDCT:34742003][accessDate: 05-04-2011]
Portal Hypertensions[accessedResource: MSH:D006975][accessDate: 05-04-2011]
Portal hypertension (disorder)[accessedResource: SNOMEDCT:34742003][accessDate: 05-04-2011]
Syndrome, Cruveilhier-Baumgarten[accessedResource: MSH:D006975][accessDate: 05-04-2011]
A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease.
A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease.[accessedResource: MSH:D011225][accessDate: 05-04-2011]
A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.
A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.[accessedResource: NCIt:C34943][accessDate: 05-04-2011]
EPH - Edema, proteinuria and hypertension of pregnancy
EPH - Edema, proteinuria and hypertension of pregnancy[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011]
EPH - Oedema, proteinuria and hypertension of pregnancy
EPH - Oedema, proteinuria and hypertension of pregnancy[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011]
EPH Complex[accessedResource: MSH:D011225][accessDate: 05-04-2011]
EPH Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011]
EPH Toxemia[accessedResource: MSH:D011225][accessDate: 05-04-2011]
EPH Toxemias[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Edema Proteinuria Hypertension Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Edema-Proteinuria-Hypertension Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Gestational hypertension (disorder)[accessedResource: DOID:10591][accessDate: 05-04-2011]
Gestational hypertension[accessedResource: DOID:10591][accessDate: 05-04-2011]
Gestosis, EPH[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Gestosis, Edema-Proteinuria-Hypertension
Gestosis, Edema-Proteinuria-Hypertension[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Gestosis, Hypertension-Edema-Proteinuria
Gestosis, Hypertension-Edema-Proteinuria[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Gestosis, Proteinuria-Edema-Hypertension
Gestosis, Proteinuria-Edema-Hypertension[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Hypertension Edema Proteinuria Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Hypertension-Edema-Proteinuria Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011]
PE - Pre-eclampsia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011]
PET - Pre-eclamptic toxaemia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011]
PET - Pre-eclamptic toxemia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011]
PREECLAMPSIA/ECLAMPSIA[accessedResource: DOID:10591][accessDate: 05-04-2011]
PREGN TOXEMIAS[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Pre Eclampsia[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Pre-Eclampsia[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Pre-eclampsia (disorder)[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011]
Pre-eclampsia NOS (disorder)[accessedResource: SNOMEDCT:288201007][accessDate: 05-04-2011]
Pre-eclampsia NOS[accessedResource: DOID:10591][accessDate: 05-04-2011]
Pre-eclampsia, unspecified[accessedResource: SNOMEDCT:288201007][accessDate: 05-04-2011]
Pre-eclamptic NOS[accessedResource: DOID:10591][accessDate: 05-04-2011]
Pre-eclamptic toxaemia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011]
Pre-eclamptic toxemia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011]
Pregnancy Toxemia[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Pregnancy Toxemias[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Pregnancy associated hypertension[accessedResource: DOID:10591][accessDate: 05-04-2011]
Pregnancy-induced hypertension (disorder)
Pregnancy-induced hypertension (disorder)[accessedResource: DOID:10591][accessDate: 05-04-2011]
Proteinuria Edema Hypertension Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Proteinuria-Edema-Hypertension Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Proteinuric hypertension of pregnancy[accessedResource: DOID:10591][accessDate: 05-04-2011]
Toxaemia NOS[accessedResource: DOID:10591][accessDate: 05-04-2011]
Toxaemia of pregnancy, NOS[accessedResource: SNOMEDCT:15394000][accessDate: 05-04-2011]
Toxaemia of pregnancy[accessedResource: DOID:10591][accessDate: 05-04-2011]
Toxemia NOS (disorder)[accessedResource: SNOMEDCT:237280005][accessDate: 05-04-2011]
Toxemia NOS[accessedResource: SNOMEDCT:237280005][accessDate: 05-04-2011]
Toxemia of pregnancy (disorder)[accessedResource: DOID:10591][accessDate: 05-04-2011]
Toxemia of pregnancy, NOS[accessedResource: SNOMEDCT:15394000][accessDate: 05-04-2011]
Toxemia of pregnancy[accessedResource: SNOMEDCT:15394000][accessDate: 05-04-2011]
Toxemia, EPH[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Toxemia, Pregnancy[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Toxemia[accessedResource: NCIt:C34943][accessDate: 05-04-2011]
Toxemias, EPH[accessedResource: MSH:D011225][accessDate: 05-04-2011]
Toxemias, Pregnancy[accessedResource: MSH:D011225][accessDate: 05-04-2011]
hypertension induced by pregnancy[accessedResource: DOID:10591][accessDate: 05-04-2011]
hypertension of preg.[accessedResource: DOID:10591][accessDate: 05-04-2011]
hypertension of pregnancy NOS (disorder)
hypertension of pregnancy NOS (disorder)[accessedResource: DOID:10591][accessDate: 05-04-2011]
hypertension of pregnancy NOS[accessedResource: DOID:10591][accessDate: 05-04-2011]
A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.
A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.[accessedResource: NCIt:C34951][accessDate: 05-04-2011]
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.[accessedResource: MSH:D011371][accessDate: 05-04-2011]
HGPS[accessedResource: DOID:3911][accessDate: 05-04-2011]
Hutchinson Gilford Syndrome[accessedResource: MSH:D011371][accessDate: 05-04-2011]
Hutchinson-Gilford Progeria Syndrome[accessedResource: NCIt:C34951][accessDate: 05-04-2011]
Hutchinson-Gilford disease[accessedResource: DOID:3911][accessDate: 05-04-2011]
Hutchinson-Gilford syndrome (disorder)[accessedResource: SNOMEDCT:238870004][accessDate: 05-04-2011]
Hutchinson-Gilford syndrome[accessedResource: SNOMEDCT:238870004][accessDate: 05-04-2011]
Premature senility syndrome[accessedResource: SNOMEDCT:238870004][accessDate: 05-04-2011]
Progeria (disorder)[accessedResource: DOID:3911][accessDate: 05-04-2011]
Progeria syndrome (disorder) [Ambiguous]
Progeria syndrome (disorder) [Ambiguous][accessedResource: DOID:3911][accessDate: 05-04-2011]
Syndrome, Hutchinson-Gilford[accessedResource: MSH:D011371][accessDate: 05-04-2011]
progeria[accessedResource: DOID:3911][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_2670' instead. New Label : Hutchinson-Gilford progeria syndrome
A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc
Adenocarcinoma of prostate (disorder)[accessedResource: SNOMEDCT:399490008][accessDate: 05-04-2011]
Adenocarcinoma of the Prostate[accessedResource: NCIt:C2919][accessDate: 05-04-2011]
An adenocarcinoma arising from the prostate gland. It is one of the most common malignant tumors afflicting men. The majority of adenocarcinomas arise in the peripheral zone and a minority occurs in the central or the transitional zone of the prostate gland. Grading of prostatic adenocarcinoma predicts disease progression and correlates with survival. Several grading systems have been proposed, of which the Gleason system is the most commonly used. Gleason sums of 2 to 4 represent well-differentiated disease, 5 to 7 moderately differentiated disease and 8 to 10 poorly differentiated disease. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic adenocarcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.
An adenocarcinoma arising from the prostate gland. It is one of the most common malignant tumors afflicting men. The majority of adenocarcinomas arise in the peripheral zone and a minority occurs in the central or the transitional zone of the prostate gland. Grading of prostatic adenocarcinoma predicts disease progression and correlates with survival. Several grading systems have been proposed, of which the Gleason system is the most commonly used. Gleason sums of 2 to 4 represent well-differentiated disease, 5 to 7 moderately differentiated disease and 8 to 10 poorly differentiated disease. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic adenocarcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.[accessedResource: NCIt:C2919][accessDate: 05-04-2011]
Cancer of Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Cancer of the Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Cancer, Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Cancer, Prostatic[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Cancers, Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Cancers, Prostatic[accessedResource: MSH:D011471][accessDate: 05-04-2011]
NEOPL PROSTATE[accessedResource: MSH:D011471][accessDate: 05-04-2011]
NEOPL PROSTATIC[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Neoplasm, Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Neoplasm, Prostatic[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Neoplasms, Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Neoplasms, Prostatic[accessedResource: MSH:D011471][accessDate: 05-04-2011]
PROSTATE NEOPL[accessedResource: MSH:D011471][accessDate: 05-04-2011]
PROSTATIC NEOPL[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Prostate Cancer[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Prostate Cancers[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Prostate Neoplasm[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Prostate Neoplasms[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Prostatic Cancer[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Prostatic Cancers[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Prostatic Neoplasm[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Prostatic Neoplasms[accessedResource: MSH:D011471][accessDate: 05-04-2011]
Tumors or cancer of the PROSTATE.[accessedResource: MSH:D011471][accessDate: 05-04-2011]
adenocarcinoma of prostate[accessedResource: DOID:2526][accessDate: 05-04-2011]
Merged plan specification and protocol and made synonymous hence this class is redundant.
A protocol factor is an experimental factor which describes factors that describe the protocol design of an experiment.
A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.
A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.[accessedResource: MSH:D011565][accessDate: 05-04-2011]
OTHER PSORIASIS[accessedResource: ICD9:696.1][accessDate: 05-04-2011]
Other and unspecified pityriasis[accessedResource: ICD9:696.5][accessDate: 05-04-2011]
Other psoriasis and similar disorders (disorder)
Other psoriasis and similar disorders (disorder)[accessedResource: SNOMEDCT:200996000][accessDate: 05-04-2011]
Other psoriasis and similar disorders excluding psoriatic arthropathy
Other psoriasis and similar disorders excluding psoriatic arthropathy[accessedResource: ICD9:696.1][accessDate: 05-04-2011]
Other psoriasis and similar disorders[accessedResource: SNOMEDCT:200996000][accessDate: 05-04-2011]
PITYRIASIS NEC & NOS[accessedResource: ICD9:696.5][accessDate: 05-04-2011]
PSORIAS RELATED DIS NEC[accessedResource: ICD9:696.8][accessDate: 05-04-2011]
PUSTULAR PSORIASIS OF PALMS SOLES[accessedResource: MSH:D011565][accessDate: 05-04-2011]
PUSTULOSIS OF PALMS SOLES[accessedResource: MSH:D011565][accessDate: 05-04-2011]
Palmoplantaris Pustulosis[accessedResource: MSH:D011565][accessDate: 05-04-2011]
Psoriases[accessedResource: MSH:D011565][accessDate: 05-04-2011]
Psoriasis and similar disorders (disorder)
Psoriasis and similar disorders (disorder)[accessedResource: SNOMEDCT:200955003][accessDate: 05-04-2011]
Psoriasis and similar disorders (navigational concept)
Psoriasis and similar disorders (navigational concept)[accessedResource: SNOMEDCT:200955003][accessDate: 05-04-2011]
Psoriasis and similar disorders NOS (disorder)
Psoriasis and similar disorders NOS (disorder)[accessedResource: SNOMEDCT:200997009][accessDate: 05-04-2011]
Psoriasis and similar disorders NOS[accessedResource: SNOMEDCT:200997009][accessDate: 05-04-2011]
Psoriasis and similar disorders[accessedResource: ICD9:696][accessDate: 05-04-2011]
Pustular Psoriasis of Palms and Soles[accessedResource: MSH:D011565][accessDate: 05-04-2011]
Pustulosis Palmaris et Plantaris[accessedResource: MSH:D011565][accessDate: 05-04-2011]
Pustulosis of Palms and Soles[accessedResource: MSH:D011565][accessDate: 05-04-2011]
Behavior Disorder[accessedResource: NIFSTD:birnlex_12669][accessDate: 05-04-2011]
Brief Reactive Psychoses[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Brief Reactive Psychosis[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Disorder, Psychotic[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Disorder, Schizoaffective[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Disorder, Schizophreniform[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)
Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Disorders, Psychotic[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Disorders, Schizoaffective[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Disorders, Schizophreniform[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Mental Disorder[accessedResource: NIFSTD:birnlex_12669][accessDate: 05-04-2011]
PSYCHOTIC DIS[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Psychiatric Disorder[accessedResource: NIFSTD:birnlex_12669][accessDate: 05-04-2011]
Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH).
Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH).[accessedResource: NIFSTD:birnlex_12669][accessDate: 05-04-2011]
Psychoses, Brief Reactive[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Psychoses[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Psychosis, Brief Reactive[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Psychotic Disorder[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Psychotic Disorders[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Reactive Psychoses, Brief[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Reactive Psychosis, Brief[accessedResource: MSH:D011618][accessDate: 05-04-2011]
SCHIZOAFFECTIVE DIS[accessedResource: MSH:D011618][accessDate: 05-04-2011]
SCHIZOPHRENIFORM DIS[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Schizoaffective Disorder[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Schizoaffective Disorders[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Schizophreniform Disorder[accessedResource: MSH:D011618][accessDate: 05-04-2011]
Schizophreniform Disorders[accessedResource: MSH:D011618][accessDate: 05-04-2011]
An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)
An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)[accessedResource: MSH:D011625][accessDate: 05-04-2011]
Pterygium (disorder)[accessedResource: SNOMEDCT:77489003][accessDate: 05-04-2011]
Pterygium NOS (disorder)[accessedResource: SNOMEDCT:193884009][accessDate: 05-04-2011]
Pterygium NOS[accessedResource: SNOMEDCT:193884009][accessDate: 05-04-2011]
Pterygium, NOS[accessedResource: SNOMEDCT:77489003][accessDate: 05-04-2011]
Pterygium, unspecified[accessedResource: DOID:10526][accessDate: 05-04-2011]
Pterygiums[accessedResource: MSH:D011625][accessDate: 05-04-2011]
Unspecified pterygium (disorder)[accessedResource: SNOMEDCT:193879003][accessDate: 05-04-2011]
Unspecified pterygium[accessedResource: SNOMEDCT:193879003][accessDate: 05-04-2011]
Web eye[accessedResource: SNOMEDCT:77489003][accessDate: 05-04-2011]
conjunctival pterygium[accessedResource: DOID:10526][accessDate: 05-04-2011]
consolodation of strain with taxon. rat strain subclasses moved to subclasses of rattus
A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.
A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.[accessedResource: NCIt:C9385][accessDate: 05-04-2011]
A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Adenocarcinoma of kidney[accessedResource: SNOMEDCT:254915003][accessDate: 05-04-2011]
Adenocarcinoma of the Kidney[accessedResource: NCIt:C9385][accessDate: 05-04-2011]
Adenocarcinoma, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Adenocarcinomas, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Cancer, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Cancers, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Carcinoma of kidney[accessedResource: SNOMEDCT:254915003][accessDate: 05-04-2011]
Carcinoma, Collecting Duct (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Carcinoma, Hypernephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Carcinoma, Nephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Carcinoma, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Carcinomas, Collecting Duct (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Carcinomas, Hypernephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Carcinomas, Nephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Carcinomas, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Chromophobe Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Clear Cell Renal Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Clear cell carcinoma of kidney (disorder)[accessedResource: SNOMEDCT:254915003][accessDate: 05-04-2011]
Clear cell carcinoma of kidney[accessedResource: SNOMEDCT:254915003][accessDate: 05-04-2011]
Collecting Duct Carcinoma (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Collecting Duct Carcinoma of the Kidney[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Collecting Duct Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Collecting Duct Carcinomas (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Duct Carcinoma, Collecting (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Duct Carcinomas, Collecting (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Grawitz tumor[accessedResource: SNOMEDCT:41607009][accessDate: 05-04-2011]
Grawitz tumour[accessedResource: SNOMEDCT:41607009][accessDate: 05-04-2011]
Hypernephroid Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Hypernephroid Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Hypernephroma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Hypernephromas[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Kidney Adenocarcinoma[accessedResource: NCIt:C9385][accessDate: 05-04-2011]
Nephroid Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Nephroid Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Papillary Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
RCC[accessedResource: DOID:4450][accessDate: 05-04-2011]
Renal Cell Adenocarcinoma[accessedResource: NCIt:C9385][accessDate: 05-04-2011]
Renal Cell Adenocarcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Renal Cell Cancer[accessedResource: NCIt:C9385][accessDate: 05-04-2011]
Renal Cell Cancers[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Renal Cell Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Renal Collecting Duct Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Renal cell carcinoma (morphologic abnormality)
Renal cell carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:41607009][accessDate: 05-04-2011]
Renal cell carcinoma - morphology[accessedResource: SNOMEDCT:41607009][accessDate: 05-04-2011]
Sarcomatoid Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Tumor, Grawitz[accessedResource: MSH:D002292][accessDate: 05-04-2011]
hypernephroma (disorder)[accessedResource: DOID:4450][accessDate: 05-04-2011]
renal cell carcinoma, stage Unspecified[accessedResource: DOID:4450][accessDate: 05-04-2011]
duplicate of EFO_0000349 (clear cell renal carcinoma)
A role played by a a biological sample in the context of a microarray experiment where the intent is that biological or technical variation is measured.
A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs.
A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs.[accessedResource: DOID:1579][accessDate: 05-04-2011]
ALVEOL PNEUMONOPATHY NEC[accessedResource: ICD9:516.8][accessDate: 05-04-2011]
ALVEOL PNEUMONOPATHY NOS[accessedResource: ICD9:516.9][accessDate: 05-04-2011]
CHR PUL MANIF D/T RADIAT[accessedResource: ICD9:508.1][accessDate: 05-04-2011]
Chronic and other pulmonary manifestations due to radiation
Chronic and other pulmonary manifestations due to radiation[accessedResource: ICD9:508.1][accessDate: 05-04-2011]
DISEASES OF THE RESPIRATORY SYSTEM[accessedResource: ICD9:460-519.99][accessDate: 05-04-2011]
Disease of respiratory system (disorder)
Disease of respiratory system (disorder)[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011]
Disease of respiratory system, NOS[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011]
Disease of respiratory system[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011]
Disorder of respiratory system (disorder)
Disorder of respiratory system (disorder)[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011]
Disorder of respiratory system[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011]
INORG DUST PNEUMOCON NEC[accessedResource: ICD9:503][accessDate: 05-04-2011]
LUNG INVOLV IN OTH DIS[accessedResource: ICD9:517.8][accessDate: 05-04-2011]
Lung involvement in conditions classified elsewhere
Lung involvement in conditions classified elsewhere[accessedResource: ICD9:517][accessDate: 05-04-2011]
Lung involvement in other diseases classified elsewhere
Lung involvement in other diseases classified elsewhere[accessedResource: ICD9:517.8][accessDate: 05-04-2011]
MEDIASTINUM DISEASE NEC[accessedResource: ICD9:519.3][accessDate: 05-04-2011]
Other alveolar and parietoalveolar pneumonopathy
Other alveolar and parietoalveolar pneumonopathy[accessedResource: ICD9:516][accessDate: 05-04-2011]
Other diseases of mediastinum, not elsewhere classified
Other diseases of mediastinum, not elsewhere classified[accessedResource: ICD9:519.3][accessDate: 05-04-2011]
Other diseases of respiratory system NOS
Other diseases of respiratory system NOS (disorder)
Other diseases of respiratory system NOS (disorder)[accessedResource: SNOMEDCT:196184000][accessDate: 05-04-2011]
Other diseases of respiratory system NOS[accessedResource: SNOMEDCT:196184000][accessDate: 05-04-2011]
Other diseases of respiratory system, not elsewhere classified
Other diseases of respiratory system, not elsewhere classified[accessedResource: ICD9:519.8][accessDate: 05-04-2011]
Other diseases of respiratory system[accessedResource: ICD9:519][accessDate: 05-04-2011]
Other diseases of trachea and bronchus, not elsewhere classified
Other diseases of trachea and bronchus, not elsewhere classified[accessedResource: ICD9:519.1][accessDate: 05-04-2011]
Other respiratory system diseases (disorder)
Other respiratory system diseases (disorder)[accessedResource: SNOMEDCT:196057004][accessDate: 05-04-2011]
Other respiratory system diseases NOS (disorder)
Other respiratory system diseases NOS (disorder)[accessedResource: SNOMEDCT:266373008][accessDate: 05-04-2011]
Other respiratory system diseases NOS[accessedResource: SNOMEDCT:266373008][accessDate: 05-04-2011]
Other respiratory system diseases[accessedResource: SNOMEDCT:196057004][accessDate: 05-04-2011]
Other specified alveolar and parietoalveolar pneumonopathies
Other specified alveolar and parietoalveolar pneumonopathies[accessedResource: ICD9:516.8][accessDate: 05-04-2011]
PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS
PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS[accessedResource: ICD9:500-508.99][accessDate: 05-04-2011]
Pneumoconiosis due to other inorganic dust
Pneumoconiosis due to other inorganic dust[accessedResource: ICD9:503][accessDate: 05-04-2011]
RESP COND: EXT AGENT NEC[accessedResource: ICD9:508.8][accessDate: 05-04-2011]
RESP COND: EXT AGENT NOS[accessedResource: ICD9:508.9][accessDate: 05-04-2011]
RESP SYSTEM DISEASE NEC[accessedResource: ICD9:519.8][accessDate: 05-04-2011]
RESP SYSTEM DISEASE NOS[accessedResource: ICD9:519.9][accessDate: 05-04-2011]
Respiratory conditions due to other and unspecified external agents
Respiratory conditions due to other and unspecified external agents[accessedResource: ICD9:508][accessDate: 05-04-2011]
Respiratory conditions due to other specified external agents
Respiratory conditions due to other specified external agents[accessedResource: ICD9:508.8][accessDate: 05-04-2011]
Respiratory conditions due to unspecified external agent
Respiratory conditions due to unspecified external agent[accessedResource: ICD9:508.9][accessDate: 05-04-2011]
Respiratory disease[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011]
Respiratory disorder, NOS[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011]
Respiratory disorder[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011]
Respiratory system diseases NOS (disorder)
Respiratory system diseases NOS (disorder)[accessedResource: SNOMEDCT:196185004][accessDate: 05-04-2011]
Respiratory system diseases NOS[accessedResource: SNOMEDCT:196185004][accessDate: 05-04-2011]
Unspecified alveolar and parietoalveolar pneumonopathy
Unspecified alveolar and parietoalveolar pneumonopathy[accessedResource: ICD9:516.9][accessDate: 05-04-2011]
Unspecified disease of respiratory system
Unspecified disease of respiratory system[accessedResource: ICD9:519.9][accessDate: 05-04-2011]
[X]Chronic and other pulmonary manifestations due to radiation
[X]Chronic and other pulmonary manifestations due to radiation (disorder)
[X]Chronic and other pulmonary manifestations due to radiation (disorder)[accessedResource: SNOMEDCT:196241007][accessDate: 05-04-2011]
[X]Chronic and other pulmonary manifestations due to radiation[accessedResource: SNOMEDCT:196241007][accessDate: 05-04-2011]
[X]Other diseases of the respiratory system
[X]Other diseases of the respiratory system (disorder)
[X]Other diseases of the respiratory system (disorder)[accessedResource: SNOMEDCT:196255004][accessDate: 05-04-2011]
[X]Other diseases of the respiratory system[accessedResource: SNOMEDCT:196255004][accessDate: 05-04-2011]
[X]Respiratory conditions due to other specified external agents
[X]Respiratory conditions due to other specified external agents (disorder)
[X]Respiratory conditions due to other specified external agents (disorder)[accessedResource: SNOMEDCT:196243005][accessDate: 05-04-2011]
[X]Respiratory conditions due to other specified external agents[accessedResource: SNOMEDCT:196243005][accessDate: 05-04-2011]
[X]Respiratory conditions due to unspecified external agent
[X]Respiratory conditions due to unspecified external agent (disorder)
[X]Respiratory conditions due to unspecified external agent (disorder)[accessedResource: SNOMEDCT:196244004][accessDate: 05-04-2011]
[X]Respiratory conditions due to unspecified external agent[accessedResource: SNOMEDCT:196244004][accessDate: 05-04-2011]
A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.
A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.[accessedResource: MSH:D001172][accessDate: 05-04-2011]
An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint.
An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint.[accessedResource: DOID:7148][accessDate: 05-04-2011]
Arthritis or polyarthritis, rheumatic[accessedResource: DOID:7148][accessDate: 05-04-2011]
Arthritis, Rheumatoid[accessedResource: MSH:D001172][accessDate: 05-04-2011]
Atrophic arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011]
Chronic rheumatic arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011]
Proliferative arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011]
RA - Rheumatoid arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011]
RhA - Rheumatoid arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011]
Rheumatic gout[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011]
Rheumatoid arthritis (disorder)[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011]
Rheumatoid arthritis NOS (disorder)[accessedResource: SNOMEDCT:287010008][accessDate: 05-04-2011]
Rheumatoid arthritis NOS[accessedResource: SNOMEDCT:287010008][accessDate: 05-04-2011]
Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints.
Rheumatoid disease[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011]
The probability that an event will occur generally with unfavorable outcome.
A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample
sampling_time_point[accessedResource: MO_866][accessDate: 05-04-2011]
An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.
An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.[accessedResource: NCIt:C34995][accessDate: 05-04-2011]
An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.
An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.[accessedResource: MSH:D012507][accessDate: 05-04-2011]
BESNIER BOECK DIS[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Benign lymphogranulomatosis of Schaumann
Benign lymphogranulomatosis of Schaumann[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
Besnier Boeck Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Besnier Boeck Schaumann Syndrome[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Besnier-Boeck Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Besnier-Boeck-Schaumann Syndrome[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Boeck Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Boeck Sarcoid, any site[accessedResource: DOID:11335][accessDate: 05-04-2011]
Boeck Sarcoid[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Boeck's Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Boeck's Sarcoid[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Boeck's sarcoidosis[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
Boecks Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Boecks Sarcoid[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Boecks sarcoidosis[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
Darier-Roussy sarcoid[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
Disease, Schaumann[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Lupus pernio of Besnier[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
Miliary lupoid of Boeck[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
SCHAUMANN DIS[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Sarcoid, Boeck's[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Sarcoidoses[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Sarcoidosis (disorder)[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
Sarcoidosis, NOS[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
Schaumann Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Schaumann Syndrome[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Schaumann's Syndrome[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Schaumann's Syndromes[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Syndrome, Besnier-Boeck-Schaumann[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Syndrome, Schaumann's[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Syndrome, Schaumann[accessedResource: MSH:D012507][accessDate: 05-04-2011]
Uveoparotid fever[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011]
lymphogranulomatosis[accessedResource: DOID:11335][accessDate: 05-04-2011]
sarcoid[accessedResource: NCIt:C34995][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_735' instead. New Label : Sarcoidosis
A cancer that affects connective tissue resulting in mesoderm proliferation.
A cancer that affects connective tissue resulting in mesoderm proliferation.[accessedResource: DOID:1115][accessDate: 05-04-2011]
A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.
A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.[accessedResource: NCIt:C4867][accessDate: 05-04-2011]
A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.
A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.[accessedResource: NCIt:C9306][accessDate: 05-04-2011]
A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.
A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.[accessedResource: NCIt:C9118][accessDate: 05-04-2011]
CONNECTIVE SOFT TISSUE NEOPL[accessedResource: MSH:D018204][accessDate: 05-04-2011]
Connective Tissue Sarcoma[accessedResource: NCIt:C9306][accessDate: 05-04-2011]
Connective and Soft Tissue Neoplasms[accessedResource: MSH:D018204][accessDate: 05-04-2011]
MAL NEO SOFT TIS ABDOMEN[accessedResource: ICD9:171.5][accessDate: 05-04-2011]
MAL NEO SOFT TIS PELVIS[accessedResource: ICD9:171.6][accessDate: 05-04-2011]
MAL NEO SOFT TIS THORAX[accessedResource: ICD9:171.4][accessDate: 05-04-2011]
MAL NEO SOFT TISSUE ARM[accessedResource: ICD9:171.2][accessDate: 05-04-2011]
MAL NEO SOFT TISSUE HEAD[accessedResource: ICD9:171.0][accessDate: 05-04-2011]
MAL NEO SOFT TISSUE LEG[accessedResource: ICD9:171.3][accessDate: 05-04-2011]
MAL NEO SOFT TISSUE NEC[accessedResource: ICD9:171.8][accessDate: 05-04-2011]
MAL NEO SOFT TISSUE NOS[accessedResource: ICD9:171.9][accessDate: 05-04-2011]
MAL NEOPL TRUNK NOS[accessedResource: ICD9:171.7][accessDate: 05-04-2011]
Malignant Neoplasm of Soft Tissue[accessedResource: NCIt:C4867][accessDate: 05-04-2011]
Malignant Neoplasm of the Soft Tissue[accessedResource: NCIt:C4867][accessDate: 05-04-2011]
Malignant Soft Tissue Neoplasm[accessedResource: NCIt:C4867][accessDate: 05-04-2011]
Malignant Soft Tissue Tumor[accessedResource: NCIt:C4867][accessDate: 05-04-2011]
Malignant Tumor of Soft Tissue[accessedResource: NCIt:C4867][accessDate: 05-04-2011]
Malignant Tumor of the Soft Tissue[accessedResource: NCIt:C4867][accessDate: 05-04-2011]
Malignant mesenchymal tumor[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Malignant mesenchymal tumour[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue
Malignant neoplasm of connective and other soft tissue (disorder)
Malignant neoplasm of connective and other soft tissue (disorder)[accessedResource: SNOMEDCT:187985009][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue of abdomen
Malignant neoplasm of connective and other soft tissue of abdomen[accessedResource: ICD9:171.5][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue of head, face, and neck
Malignant neoplasm of connective and other soft tissue of head, face, and neck[accessedResource: ICD9:171.0][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue of lower limb, including hip
Malignant neoplasm of connective and other soft tissue of lower limb, including hip[accessedResource: ICD9:171.3][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue of pelvis
Malignant neoplasm of connective and other soft tissue of pelvis[accessedResource: ICD9:171.6][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue of thorax
Malignant neoplasm of connective and other soft tissue of thorax[accessedResource: ICD9:171.4][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue of trunk, unspecified
Malignant neoplasm of connective and other soft tissue of trunk, unspecified[accessedResource: ICD9:171.7][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue of upper limb, including shoulder
Malignant neoplasm of connective and other soft tissue of upper limb, including shoulder[accessedResource: ICD9:171.2][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue, site unspecified
Malignant neoplasm of connective and other soft tissue, site unspecified[accessedResource: ICD9:171.9][accessDate: 05-04-2011]
Malignant neoplasm of connective and other soft tissue[accessedResource: ICD9:171][accessDate: 05-04-2011]
Malignant neoplasm of other specified sites of connective and other soft tissue
Malignant neoplasm of other specified sites of connective and other soft tissue[accessedResource: ICD9:171.8][accessDate: 05-04-2011]
Malignant neoplasm of soft tissue (disorder)
Malignant neoplasm of soft tissue (disorder)[accessedResource: SNOMEDCT:269469005][accessDate: 05-04-2011]
Malignant tumour of soft tissue[accessedResource: SNOMEDCT:269469005][accessDate: 05-04-2011]
Mesenchymal tumor, malignant[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Mesenchymal tumour, malignant[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
NEOPL CONNECTIVE SOFT TISSUE[accessedResource: MSH:D018204][accessDate: 05-04-2011]
Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.
Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.[accessedResource: MSH:D018204][accessDate: 05-04-2011]
Neoplasms, Connective and Soft Tissue[accessedResource: MSH:D018204][accessDate: 05-04-2011]
Sarcoma of Soft Tissue and Bone[accessedResource: NCIt:C9118][accessDate: 05-04-2011]
Sarcoma of Soft Tissue[accessedResource: NCIt:C9306][accessDate: 05-04-2011]
Sarcoma of the Soft Tissue and Bone[accessedResource: NCIt:C9118][accessDate: 05-04-2011]
Sarcoma of the Soft Tissue[accessedResource: NCIt:C9306][accessDate: 05-04-2011]
Sarcoma, NOS[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Sarcoma, no ICD-O subtype (morphologic abnormality)
Sarcoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Sarcoma, no ICD-O subtype[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Soft tissue sarcoma[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Soft tissue tumor, malignant[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Soft tissue tumour, malignant[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011]
Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue.
[M]Sarcoma NOS (morphologic abnormality)
[M]Sarcoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189764008][accessDate: 05-04-2011]
[M]Sarcoma NOS[accessedResource: SNOMEDCT:189764008][accessDate: 05-04-2011]
connective and soft tissue neoplasm[accessedResource: DOID:1115][accessDate: 05-04-2011]
tumor of soft tissue and skeleton[accessedResource: DOID:1115][accessDate: 05-04-2011]
A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.
A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.[accessedResource: NCIt:C3362][accessDate: 05-04-2011]
A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.[accessedResource: MSH:D012559][accessDate: 05-04-2011]
Dementia Praecox[accessedResource: NIFSTD:birnlex_2104][accessDate: 05-04-2011]
Disorder, Schizophrenic[accessedResource: MSH:D012559][accessDate: 05-04-2011]
Disorders, Schizophrenic[accessedResource: MSH:D012559][accessDate: 05-04-2011]
Other specified types of schizophrenia, chronic state
Other specified types of schizophrenia, chronic state with acute exacerbation
Other specified types of schizophrenia, chronic state with acute exacerbation[accessedResource: ICD9:295.84][accessDate: 05-04-2011]
Other specified types of schizophrenia, chronic state[accessedResource: ICD9:295.82][accessDate: 05-04-2011]
Other specified types of schizophrenia, in remission
Other specified types of schizophrenia, in remission[accessedResource: ICD9:295.85][accessDate: 05-04-2011]
Other specified types of schizophrenia, subchronic state
Other specified types of schizophrenia, subchronic state with acute exacerbation
Other specified types of schizophrenia, subchronic state with acute exacerbation[accessedResource: ICD9:295.83][accessDate: 05-04-2011]
Other specified types of schizophrenia, subchronic state[accessedResource: ICD9:295.81][accessDate: 05-04-2011]
Other specified types of schizophrenia, unspecified state
Other specified types of schizophrenia, unspecified state[accessedResource: ICD9:295.80][accessDate: 05-04-2011]
Other specified types of schizophrenia[accessedResource: ICD9:295.8][accessDate: 05-04-2011]
SCHIZO NEC-CHR/EXACERB[accessedResource: ICD9:295.84][accessDate: 05-04-2011]
SCHIZO NEC-SUBCHR/EXACER[accessedResource: ICD9:295.83][accessDate: 05-04-2011]
SCHIZO NOS-CHR/EXACERB[accessedResource: ICD9:295.94][accessDate: 05-04-2011]
SCHIZO NOS-SUBCHR/EXACER[accessedResource: ICD9:295.93][accessDate: 05-04-2011]
SCHIZOPHRENIA NEC-CHR[accessedResource: ICD9:295.82][accessDate: 05-04-2011]
SCHIZOPHRENIA NEC-REMISS[accessedResource: ICD9:295.85][accessDate: 05-04-2011]
SCHIZOPHRENIA NEC-SUBCHR[accessedResource: ICD9:295.81][accessDate: 05-04-2011]
SCHIZOPHRENIA NEC-UNSPEC[accessedResource: ICD9:295.80][accessDate: 05-04-2011]
SCHIZOPHRENIA NOS-UNSPEC[accessedResource: ICD9:295.90][accessDate: 05-04-2011]
SCHIZOPHRENIC DIS[accessedResource: MSH:D012559][accessDate: 05-04-2011]
Schizophrenia (disorder)[accessedResource: SNOMEDCT:58214004][accessDate: 05-04-2011]
Schizophrenia NOS (disorder)[accessedResource: SNOMEDCT:191579000][accessDate: 05-04-2011]
Schizophrenia NOS[accessedResource: SNOMEDCT:191579000][accessDate: 05-04-2011]
Schizophrenia, NOS[accessedResource: SNOMEDCT:58214004][accessDate: 05-04-2011]
Schizophrenias[accessedResource: MSH:D012559][accessDate: 05-04-2011]
Schizophrenic Disorder[accessedResource: NIFSTD:birnlex_2104][accessDate: 05-04-2011]
Schizophrenic disorders (disorder)[accessedResource: SNOMEDCT:191526005][accessDate: 05-04-2011]
Schizophrenic disorders[accessedResource: SNOMEDCT:191526005][accessDate: 05-04-2011]
Unspecified schizophrenia (disorder)[accessedResource: SNOMEDCT:191528006][accessDate: 05-04-2011]
Unspecified schizophrenia, chronic state with acute exacerbation
Unspecified schizophrenia, chronic state with acute exacerbation[accessedResource: ICD9:295.94][accessDate: 05-04-2011]
Unspecified schizophrenia, subchronic state with acute exacerbation
Unspecified schizophrenia, subchronic state with acute exacerbation[accessedResource: ICD9:295.93][accessDate: 05-04-2011]
Unspecified schizophrenia, unspecified state
Unspecified schizophrenia, unspecified state[accessedResource: ICD9:295.90][accessDate: 05-04-2011]
Unspecified schizophrenia[accessedResource: SNOMEDCT:191528006][accessDate: 05-04-2011]
[X]Schizophrenia, unspecified (disorder)
[X]Schizophrenia, unspecified (disorder)[accessedResource: SNOMEDCT:192327003][accessDate: 05-04-2011]
[X]Schizophrenia, unspecified[accessedResource: SNOMEDCT:192327003][accessDate: 05-04-2011]
schizophrenia-1[accessedResource: DOID:5419][accessDate: 05-04-2011]
A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.
A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.[accessedResource: NCIt:C3269][accessDate: 05-04-2011]
A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH).
A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH).[accessedResource: NIFSTD:birnlex_12603][accessDate: 05-04-2011]
A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)
A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)[accessedResource: MSH:D009442][accessDate: 05-04-2011]
A tumor of the peripheral nervous system composed of neoplastic Schwann cells. The vast majority of schwannomas follow a benign clinical course. Only rare cases associated with a malignant clinical course have been reported.
Acoustic neuroma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Ancient Neurilemmoma[accessedResource: NCIt:C6556][accessDate: 05-04-2011]
Ancient Schwannoma[accessedResource: SNOMEDCT:404023006][accessDate: 05-04-2011]
Ancient neurilemmoma (disorder)[accessedResource: SNOMEDCT:404023006][accessDate: 05-04-2011]
Ancient neurilemoma[accessedResource: SNOMEDCT:409704009][accessDate: 05-04-2011]
Ancient schwannoma (morphologic abnormality)
Ancient schwannoma (morphologic abnormality)[accessedResource: SNOMEDCT:409704009][accessDate: 05-04-2011]
Benign Neurilemmoma[accessedResource: NCIt:C3269][accessDate: 05-04-2011]
Benign Schwannoma[accessedResource: NCIt:C3269][accessDate: 05-04-2011]
Cellular schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Degenerated Neurilemmoma[accessedResource: NCIt:C6556][accessDate: 05-04-2011]
Degenerated schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Malignant Neurilemoma[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Malignant Neurilemomas[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Melanocytic Schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Melanotic schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Neurilemmoma (disorder)[accessedResource: SNOMEDCT:404022001][accessDate: 05-04-2011]
Neurilemmoma, NOS[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Neurilemmoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Neurilemmomas[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Neurilemmosarcoma[accessedResource: NIFSTD:birnlex_12603][accessDate: 05-04-2011]
Neurilemmosarcomas[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Neurilemoma (morphologic abnormality)[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Neurilemoma, Malignant[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Neurilemoma[accessedResource: NIFSTD:birnlex_12603][accessDate: 05-04-2011]
Neurilemomas, Malignant[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Neurilemomas[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Neurinoma[accessedResource: NCIt:C3269][accessDate: 05-04-2011]
Neurinomas[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Pigmented Schawnnoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Pigmented schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Plexiform Schwannomatoses[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Plexiform Schwannomatosis[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Plexiform schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Psammomatous schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Schwannoma (WHO Grade I)[accessedResource: NCIt:C3269][accessDate: 05-04-2011]
Schwannoma, NOS[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011]
Schwannomas[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Schwannomatoses, Plexiform[accessedResource: MSH:D009442][accessDate: 05-04-2011]
Schwannomatosis, Plexiform[accessedResource: MSH:D009442][accessDate: 05-04-2011]
A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.[accessedResource: DOID:2945][accessDate: 05-04-2011]
A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV).
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.[accessedResource: MSH:D045169][accessDate: 05-04-2011]
Respiratory Syndrome, Acute, Severe[accessedResource: MSH:D045169][accessDate: 05-04-2011]
Respiratory Syndrome, Severe Acute[accessedResource: MSH:D045169][accessDate: 05-04-2011]
SARS ASSOC CORONAVIRUS[accessedResource: ICD9:079.82][accessDate: 05-04-2011]
SARS-CoV infection[accessedResource: DOID:2945][accessDate: 05-04-2011]
SARS-associated coronavirus[accessedResource: ICD9:079.82][accessDate: 05-04-2011]
SARS[accessedResource: SNOMEDCT:398447004][accessDate: 05-04-2011]
Severe acute respiratory syndrome (disorder)
Severe acute respiratory syndrome (disorder)[accessedResource: SNOMEDCT:398447004][accessDate: 05-04-2011]
Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia.
An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved.
An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved.[accessedResource: PATO:0000047][accessDate: 05-04-2011]
Term applied to any organism able to undergo sexual reproduction in order to differentiate the individuals or types involved. Sexual reproduction is defined as the ability to exchange genetic material with the potential of recombinant progeny.
The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female.
The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female.[accessedResource: NCIt:C28421][accessDate: 05-04-2011]
biological sex[accessedResource: PATO:0000047][accessDate: 05-04-2011]
A process whereby a stress state is applied parallel or tangential to a face of the material.
A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.
A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.[accessedResource: NCIt:C34383][accessDate: 05-04-2011]
Drepanocythaemia[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Drepanocythemia[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
HB-S DIS W/O CRISIS NEC[accessedResource: ICD9:282.68][accessDate: 05-04-2011]
HB-SS DIS NEC W CRISIS[accessedResource: ICD9:282.69][accessDate: 05-04-2011]
Haemoglobin S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Haemoglobin S-S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Hb S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Hb SC disease[accessedResource: DOID:10923][accessDate: 05-04-2011]
Hb SS disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Hb-S/Hb-C disease[accessedResource: DOID:10923][accessDate: 05-04-2011]
Hb-SS disease without crisis[accessedResource: DOID:10923][accessDate: 05-04-2011]
Hemoglobin S disease without crisis (disorder)
Hemoglobin S disease without crisis (disorder)[accessedResource: DOID:10923][accessDate: 05-04-2011]
Hemoglobin S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Hemoglobin S-S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Hemoglobin SS disease without crisis (disorder)
Hereditary hemoglobinopathy disorder homozygous for hemoglobin S
Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder)
Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder)[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Hereditary hemoglobinopathy disorder homozygous for hemoglobin S[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Other sickle-cell disease with crisis[accessedResource: ICD9:282.69][accessDate: 05-04-2011]
Other sickle-cell disease without crisis
Other sickle-cell disease without crisis[accessedResource: ICD9:282.68][accessDate: 05-04-2011]
SICKLE CELL DISEASE NOS[accessedResource: ICD9:282.60][accessDate: 05-04-2011]
Sickle cell anaemia NOS[accessedResource: SNOMEDCT:191199004][accessDate: 05-04-2011]
Sickle cell anaemia of unspecified type[accessedResource: SNOMEDCT:191195005][accessDate: 05-04-2011]
Sickle cell anaemia[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Sickle cell anemia NOS (disorder)[accessedResource: SNOMEDCT:191199004][accessDate: 05-04-2011]
Sickle cell anemia NOS[accessedResource: SNOMEDCT:191199004][accessDate: 05-04-2011]
Sickle cell anemia of unspecified type (disorder)
Sickle cell anemia of unspecified type (disorder)[accessedResource: SNOMEDCT:191195005][accessDate: 05-04-2011]
Sickle cell anemia of unspecified type[accessedResource: SNOMEDCT:191195005][accessDate: 05-04-2011]
Sickle cell anemia[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Sickle cell syndrome[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011]
Sickle-cell disease, unspecified[accessedResource: ICD9:282.60][accessDate: 05-04-2011]
Sickle-cell disease[accessedResource: ICD9:282.6][accessDate: 05-04-2011]
Sickle-cell/Hb-C disease without crisis[accessedResource: DOID:10923][accessDate: 05-04-2011]
hemoglobin SC disease[accessedResource: DOID:10923][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_125' instead. New Label : Sickle cell anemia
A poorly differentiated adenocarcinoma in which the nucleus is pressed to one side by a cytoplasmic droplet of mucus. It usually arises in the gastrointestinal system.
A poorly differentiated adenocarcinoma in which the nucleus is pressed to one side by a cytoplasmic droplet of mucus. It usually arises in the gastrointestinal system.[accessedResource: MSH:D018279][accessDate: 05-04-2011]
A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.
A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.[accessedResource: NCIt:C3774][accessDate: 05-04-2011]
Carcinoma, Signet Ring Cell[accessedResource: MSH:D018279][accessDate: 05-04-2011]
Signet Ring cell adenocarcinoma[accessedResource: DOID:3493][accessDate: 05-04-2011]
Signet ring carcinoma NOS (morphologic abnormality)
Signet ring carcinoma NOS (morphologic abnormality)[accessedResource: DOID:3493][accessDate: 05-04-2011]
Signet ring carcinoma[accessedResource: SNOMEDCT:87737001][accessDate: 05-04-2011]
Signet ring cell carcinoma (morphologic abnormality)
Signet ring cell carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:87737001][accessDate: 05-04-2011]
[M]Signet ring carcinoma NOS (morphologic abnormality)
[M]Signet ring carcinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189702009][accessDate: 05-04-2011]
[M]Signet ring carcinoma NOS[accessedResource: SNOMEDCT:189702009][accessDate: 05-04-2011]
An autoimmune disease that results_from attack of immune cells which destroy the exocrine glands that produce tears and saliva.
An autoimmune disease that results_from attack of immune cells which destroy the exocrine glands that produce tears and saliva.[accessedResource: DOID:12894][accessDate: 05-04-2011]
An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus.
An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus.[accessedResource: NCIt:C26883][accessDate: 05-04-2011]
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.[accessedResource: MSH:D012859][accessDate: 05-04-2011]
Sicca syndrome[accessedResource: DOID:12894][accessDate: 05-04-2011]
Sjogren's Syndrome[accessedResource: MSH:D012859][accessDate: 05-04-2011]
Sjogren's disease[accessedResource: SNOMEDCT:83901003][accessDate: 05-04-2011]
Sjogren's syndrome (disorder)[accessedResource: SNOMEDCT:83901003][accessDate: 05-04-2011]
Sjogrens Syndrome[accessedResource: MSH:D012859][accessDate: 05-04-2011]
Syndrome, Sicca[accessedResource: MSH:D012859][accessDate: 05-04-2011]
Syndrome, Sjogren's[accessedResource: MSH:D012859][accessDate: 05-04-2011]
xerodermosteosis[accessedResource: DOID:12894][accessDate: 05-04-2011]
An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages.
An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages.[accessedResource: NCIt:C12470][accessDate: 05-04-2011]
Integument[accessedResource: NCIt:C12470][accessDate: 05-04-2011]
Skin[accessedResource: NCIt:C12470][accessDate: 05-04-2011]
Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.
Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.[accessedResource: NCIt:C3371][accessDate: 05-04-2011]
Cutaneous Disorder[accessedResource: NCIt:C3371][accessDate: 05-04-2011]
SKIN AND SUBCUTANEOUS TISSUE DISORDERS[accessedResource: NCIt:C3371][accessDate: 05-04-2011]
Skin Diseases and Manifestations[accessedResource: NCIt:C3371][accessDate: 05-04-2011]
Skin Disorder[accessedResource: NCIt:C3371][accessDate: 05-04-2011]
A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis.
A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis. (NCI05)
A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis.[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)
An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Carcinoma, Oat Cell[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Carcinoma, Small Cell[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Carcinomas, Oat Cell[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Carcinomas, Small Cell[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Lung Oat Cell Carcinoma[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Lung Small Cell Neuroendocrine Carcinoma
Lung Small Cell Neuroendocrine Carcinoma[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Oat Cell Carcinoma of Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Oat Cell Carcinoma of the Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Oat Cell Carcinoma[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Oat Cell Carcinomas[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Oat Cell Lung Carcinoma[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Oat cell carcinoma of lung (disorder)[accessedResource: SNOMEDCT:254633006][accessDate: 05-04-2011]
SCLC - Small cell lung cancer[accessedResource: SNOMEDCT:254632001][accessDate: 05-04-2011]
SCLC[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Small Cell Carcinoma of Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Small Cell Carcinoma of the Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Small Cell Carcinoma[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Small Cell Carcinomas[accessedResource: MSH:D018288][accessDate: 05-04-2011]
Small Cell Neuroendocrine Carcinoma of Lung
Small Cell Neuroendocrine Carcinoma of the Lung
Small Cell Neuroendocrine Carcinoma of the Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011]
Small cell lung cancer[accessedResource: SNOMEDCT:254632001][accessDate: 05-04-2011]
lung small cell carcinoma[accessedResource: DOID:5409][accessDate: 05-04-2011]
small cell carcinoma of lung (disorder)[accessedResource: DOID:5409][accessDate: 05-04-2011]
small cell neuroendocrine carcinoma of lung[accessedResource: DOID:5409][accessDate: 05-04-2011]
A sarcoma that is composed of spindle cells with a rich vascular network.
Spindle Cell Neoplasm[accessedResource: NCIt:C27263][accessDate: 05-04-2011]
Disorder of joint of spine (disorder)[accessedResource: SNOMEDCT:372109003][accessDate: 05-04-2011]
Disorder of joint of spine[accessedResource: SNOMEDCT:372109003][accessDate: 05-04-2011]
Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others.
Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others.[accessedResource: MSH:D025242][accessDate: 05-04-2011]
JOINT DIS NOS-OTH JT[accessedResource: ICD9:719.98][accessDate: 05-04-2011]
OA - Osteoarthritis of spine[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
OA - Osteoarthritis of the spine[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
Osteoarthritis of spine[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
SPONDYLOS NOS W/O MYELOP[accessedResource: ICD9:721.90][accessDate: 05-04-2011]
Spondarthropathy[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
Spondylarthropathies[accessedResource: MSH:D025242][accessDate: 05-04-2011]
Spondylarthropathy[accessedResource: MSH:D025242][accessDate: 05-04-2011]
Spondylarthrosis NOS[accessedResource: DOID:1123][accessDate: 05-04-2011]
Spondylarthrosis, NOS[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
Spondylarthrosis[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
Spondyloarthropathy (disorder)[accessedResource: DOID:1123][accessDate: 05-04-2011]
Spondylosis (disorder)[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
Spondylosis of unspecified site without mention of myelopathy
Spondylosis of unspecified site without mention of myelopathy[accessedResource: ICD9:721.90][accessDate: 05-04-2011]
Spondylosis, NOS[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
Spondylosis[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011]
Unspecified joint disorder of other specified sites
Unspecified joint disorder of other specified sites[accessedResource: ICD9:719.98][accessDate: 05-04-2011]
A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.
A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.[accessedResource: NCIt:C2929][accessDate: 05-04-2011]
A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)
A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Carcinoma, Epidermoid[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Carcinoma, Planocellular[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Carcinoma, Squamous Cell[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Carcinoma, Squamous[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Carcinomas, Epidermoid[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Carcinomas, Planocellular[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Carcinomas, Squamous Cell[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Carcinomas, Squamous[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Epidermoid Carcinomas[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Epidermoid Cell Cancer[accessedResource: NCIt:C2929][accessDate: 05-04-2011]
Epidermoid carcinoma, NOS[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011]
Malignant Epidermoid Cell Neoplasm[accessedResource: NCIt:C2929][accessDate: 05-04-2011]
Malignant Epidermoid Cell Tumor[accessedResource: NCIt:C2929][accessDate: 05-04-2011]
Malignant Squamous Cell Neoplasm[accessedResource: NCIt:C2929][accessDate: 05-04-2011]
Malignant Squamous Cell Tumor[accessedResource: NCIt:C2929][accessDate: 05-04-2011]
Planocellular Carcinoma[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Planocellular Carcinomas[accessedResource: MSH:D002294][accessDate: 05-04-2011]
SCC - Squamous cell carcinoma[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011]
Squamous Carcinomas[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Squamous Cell Cancer[accessedResource: NCIt:C2929][accessDate: 05-04-2011]
Squamous Cell Carcinomas[accessedResource: MSH:D002294][accessDate: 05-04-2011]
Squamous cell carcinoma (disorder)[accessedResource: SNOMEDCT:402815007][accessDate: 05-04-2011]
Squamous cell carcinoma (morphologic abnormality)
Squamous cell carcinoma, NOS[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011]
Squamous cell carcinoma, no ICD-O subtype
Squamous cell carcinoma, no ICD-O subtype (morphologic abnormality)
Squamous cell carcinoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011]
Squamous cell carcinoma, no ICD-O subtype[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011]
Squamous cell epithelioma[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011]
[M]Squamous cell carcinoma NOS (morphologic abnormality)
[M]Squamous cell carcinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189566008][accessDate: 05-04-2011]
[M]Squamous cell carcinoma NOS[accessedResource: SNOMEDCT:189566008][accessDate: 05-04-2011]
epidermoid carcinoma[accessedResource: DOID:1749][accessDate: 05-04-2011]
squamous carcinoma[accessedResource: DOID:1749][accessDate: 05-04-2011]
squamous cell carcinoma (morphologic abnormality)[accessedResource: DOID:1749][accessDate: 05-04-2011]
squamous cell carcinoma NOS (morphologic abnormality)
squamous cell carcinoma NOS (morphologic abnormality)[accessedResource: DOID:1749][accessDate: 05-04-2011]
A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.
A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.[accessedResource: NCIt:C3493][accessDate: 05-04-2011]
Epidermoid Cell Carcinoma of Lung[accessedResource: NCIt:C3493][accessDate: 05-04-2011]
Epidermoid Cell Lung Carcinoma[accessedResource: NCIt:C3493][accessDate: 05-04-2011]
Epidermoid carcinoma of lung[accessedResource: SNOMEDCT:254634000][accessDate: 05-04-2011]
Epidermoid cell carcinoma of the lung[accessedResource: DOID:3907][accessDate: 05-04-2011]
SCC - Squamous cell carcinoma of lung[accessedResource: SNOMEDCT:254634000][accessDate: 05-04-2011]
Squamous Cell Carcinoma of the Lung[accessedResource: NCIt:C3493][accessDate: 05-04-2011]
Squamous cell carcinoma of lung (disorder)
Squamous cell carcinoma of lung (disorder)[accessedResource: SNOMEDCT:254634000][accessDate: 05-04-2011]
Squamous cell carcinoma of lung[accessedResource: SNOMEDCT:254634000][accessDate: 05-04-2011]
lung squamous cell carcinoma[accessedResource: DOID:3907][accessDate: 05-04-2011]
A population or type of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics.
this class was originally 'strain or line'
consolodated all strains into organism hierarchy
A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)
A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)[accessedResource: MSH:D020521][accessDate: 05-04-2011]
A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.
A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.[accessedResource: NCIt:C3390][accessDate: 05-04-2011]
A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).
A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).[accessedResource: NIFSTD:birnlex_12783][accessDate: 05-04-2011]
A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)
ANTERIOR CEREBRAL CIRC INFARCT[accessedResource: MSH:D020520][accessDate: 05-04-2011]
ANTERIOR CIRC BRAIN INFARCT[accessedResource: MSH:D020520][accessDate: 05-04-2011]
ANTERIOR CIRC INFARCT BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Acute Cerebrovascular Accident[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Acute Cerebrovascular Accidents[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Acute Stroke[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Acute Strokes[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Anterior Cerebral Circulation Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Anterior Circulation Brain Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Anterior Circulation Infarction, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Apoplexy, Cerebrovascular[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Apoplexy[accessedResource: NIFSTD:birnlex_12783][accessDate: 05-04-2011]
BRAIN INFARCT ANTERIOR CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011]
BRAIN INFARCT POSTERIOR CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011]
BRAIN INFARCT VENOUS[accessedResource: MSH:D020520][accessDate: 05-04-2011]
BRAIN INFARCT[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Brain Infarction, Anterior Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Brain Infarction, Posterior Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Brain Infarction, Venous[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Brain Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Brain Infarctions, Venous[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Brain Infarctions[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Brain Vascular Accident[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Brain Vascular Accidents[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Brain Venous Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Brain Venous Infarctions[accessedResource: MSH:D020520][accessDate: 05-04-2011]
CEREBROVASCULAR ACCIDENT, (CVA)[accessedResource: NCIt:C3390][accessDate: 05-04-2011]
CVA (Cerebrovascular Accident)[accessedResource: MSH:D020521][accessDate: 05-04-2011]
CVA (cerebral vascular accident)[accessedResource: DOID:3455][accessDate: 05-04-2011]
CVA - Cerebrovascular accident unspecified
CVA - Cerebrovascular accident unspecified[accessedResource: DOID:3455][accessDate: 05-04-2011]
CVA - Cerebrovascular accident[accessedResource: SNOMEDCT:230690007][accessDate: 05-04-2011]
CVA, CEREBROVASCULAR ACCIDENT[accessedResource: NCIt:C3390][accessDate: 05-04-2011]
CVA[accessedResource: NCIt:C3390][accessDate: 05-04-2011]
CVAs (Cerebrovascular Accident)[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebral Stroke[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebral Strokes[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebrovascular Accident, Acute[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebrovascular Accident[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebrovascular Accidents, Acute[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebrovascular Accidents[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebrovascular Apoplexy[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebrovascular Apoplexya[accessedResource: NIFSTD:birnlex_12783][accessDate: 05-04-2011]
Cerebrovascular Stroke[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebrovascular Strokes[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Cerebrovascular accident (disorder) [Ambiguous]
Cerebrovascular accident (disorder) [Ambiguous][accessedResource: DOID:3455][accessDate: 05-04-2011]
Cerebrovascular accident (disorder)[accessedResource: SNOMEDCT:230690007][accessDate: 05-04-2011]
INFARCT ANTERIOR CEREBRAL CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011]
INFARCT ANTERIOR CIRC BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011]
INFARCT BRAIN ANTERIOR CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011]
INFARCT BRAIN POSTERIOR CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011]
INFARCT LACUNAR[accessedResource: MSH:D020520][accessDate: 05-04-2011]
INFARCT POSTERIOR CIRC BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Anterior Cerebral Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Anterior Circulation, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Brain Venous[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Brain, Anterior Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Brain, Posterior Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Lacunar[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Posterior Circulation, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarction, Venous Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarctions, Brain Venous[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarctions, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarctions, Lacunar[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Infarctions, Venous Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Lacunar Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Lacunar Infarctions[accessedResource: MSH:D020520][accessDate: 05-04-2011]
POSTERIOR CIRC BRAIN INFARCT[accessedResource: MSH:D020520][accessDate: 05-04-2011]
POSTERIOR CIRC INFARCT BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Posterior Circulation Brain Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Posterior Circulation Infarction, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
STROKE SYNDROME[accessedResource: NCIt:C3390][accessDate: 05-04-2011]
SYNDROME, STROKE[accessedResource: NCIt:C3390][accessDate: 05-04-2011]
Stroke NOS (disorder)[accessedResource: SNOMEDCT:313267000][accessDate: 05-04-2011]
Stroke NOS[accessedResource: SNOMEDCT:313267000][accessDate: 05-04-2011]
Stroke and cerebrovascular accident unspecified
Stroke and cerebrovascular accident unspecified (disorder)
Stroke and cerebrovascular accident unspecified (disorder)[accessedResource: SNOMEDCT:270883006][accessDate: 05-04-2011]
Stroke and cerebrovascular accident unspecified[accessedResource: SNOMEDCT:270883006][accessDate: 05-04-2011]
Stroke, Acute[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Stroke, Cerebral[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Stroke, Cerebrovascular[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Strokes, Acute[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Strokes, Cerebral[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Strokes, Cerebrovascular[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Strokes[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.
Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.[accessedResource: MSH:D020520][accessDate: 05-04-2011]
VENOUS INFARCT BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Vascular Accident, Brain[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Vascular Accidents, Brain[accessedResource: MSH:D020521][accessDate: 05-04-2011]
Venous Brain Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Venous Brain Infarctions[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Venous Infarction, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Venous Infarctions, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011]
Aneurysmal Subarachnoid Hemorrhage[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Aneurysmal Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status.
Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status.[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhage, Aneurysmal Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhage, Intracranial Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhage, Perinatal Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhage, Spontaneous Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhage, Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhages, Aneurysmal Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhages, Intracranial Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhages, Perinatal Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhages, Spontaneous Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Hemorrhages, Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Intracranial Subarachnoid Hemorrhage[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Intracranial Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Perinatal Subarachnoid Hemorrhage[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Perinatal Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011]
SAH (Subarachnoid Hemorrhage)[accessedResource: MSH:D013345][accessDate: 05-04-2011]
SAH - Subarachnoid haemorrhage[accessedResource: SNOMEDCT:21454007][accessDate: 05-04-2011]
SAH - Subarachnoid hemorrhage[accessedResource: SNOMEDCT:21454007][accessDate: 05-04-2011]
SAHs (Subarachnoid Hemorrhage)[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Spontaneous Subarachnoid Hemorrhage[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Spontaneous Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhage, Aneurysmal[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhage, Intracranial[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhage, Perinatal[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhage, Spontaneous[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhages, Aneurysmal[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhages, Intracranial[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhages, Perinatal[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhages, Spontaneous[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011]
Subarachnoid haemorrhage NOS[accessedResource: SNOMEDCT:195162008][accessDate: 05-04-2011]
Subarachnoid haemorrhage[accessedResource: SNOMEDCT:21454007][accessDate: 05-04-2011]
Subarachnoid hemorrhage (disorder)[accessedResource: SNOMEDCT:21454007][accessDate: 05-04-2011]
Subarachnoid hemorrhage NOS (disorder)[accessedResource: SNOMEDCT:195162008][accessDate: 05-04-2011]
Subarachnoid hemorrhage NOS[accessedResource: SNOMEDCT:195162008][accessDate: 05-04-2011]
Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease.
The probabilty of continuance of life or existence especially under adverse conditions; Probably need a parent survival metric or similar
A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease.
NCI Metathesaurus http://ncimeta.nci.nih.gov/MetaServlet/ResultServlet?cui=C0039082 Date accessed: 30th October 2007
doesnt' fit in the revised disease classification
A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.
A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.[accessedResource: MSH:D012595][accessDate: 05-04-2011]
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.[accessedResource: DOID:418][accessDate: 05-04-2011]
PSS (progressive systemic sclerosis)[accessedResource: DOID:418][accessDate: 05-04-2011]
PSS - Progressive systemic sclerosis[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011]
Progressive systemic sclerosis[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011]
SS - Systemic sclerosis[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011]
Scleroderma (& [systemic sclerosis])[accessedResource: DOID:418][accessDate: 05-04-2011]
Scleroderma syndrome[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011]
Scleroderma, Systemic[accessedResource: MSH:D012595][accessDate: 05-04-2011]
Scleroderma[accessedResource: DOID:418][accessDate: 05-04-2011]
Sclerosis, Systemic[accessedResource: MSH:D012595][accessDate: 05-04-2011]
Systemic Sclerosis[accessedResource: MSH:D012595][accessDate: 05-04-2011]
Systemic sclerosis (disorder)[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011]
Thibierge-Weissenbach syndrome[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011]
The temperature that a material is exposed to.
A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times
The life of an organism, a surgical operation as processual context for a nosocomical infection, the spatiotemporal context occupied by a process of cellular meiosis, the spatiotemporal region occupied by the development of a cancer tumor.
The recorded value of the outcome of some test.
obsolete_time before disease progression
created as a synonym of progression free survival
obsolete_time to development of distant metastases
synonym of distant metastasis free survival
Created as a synonym of distant metastasis free survival instead, more commonly used term.
Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point.
The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays.
transfect[accessedResource: MO_849][accessDate: 05-04-2011]
A process in which the act is intended to modify or alter some other material entity,
An abnormal mass of tissue that results from excessive cell division. Tumors perform no useful body function. They may be benign (not cancerous) or malignant (cancerous).
Colitis, Ulcerative[accessedResource: MSH:D003093][accessDate: 05-04-2011]
Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.
Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.[accessedResource: MSH:D003093][accessDate: 05-04-2011]
Left-sided ulcerative colitis[accessedResource: DOID:8577][accessDate: 05-04-2011]
ULCERATVE COLITIS UNSPCF[accessedResource: ICD9:556.9][accessDate: 05-04-2011]
Ulcerative colitis, unspecified[accessedResource: ICD9:556.9][accessDate: 05-04-2011]
A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age.
A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age.[accessedResource: NCIt:C27096][accessDate: 05-04-2011]
Embryonal Sarcoma[accessedResource: NCIt:C27096][accessDate: 05-04-2011]
Embryonal sarcoma (morphologic abnormality)
Embryonal sarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:59583009][accessDate: 05-04-2011]
Undifferentiated (Embryonal) Sarcoma[accessedResource: NCIt:C27096][accessDate: 05-04-2011]
Undifferentiated sarcoma (morphologic abnormality)
Undifferentiated sarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:128734000][accessDate: 05-04-2011]
A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.
A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Body of Uterus Fibroid[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Body of Uterus Leiomyoma[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Corpus Uteri Fibroid[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Corpus Uteri Leiomyoma[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid Tumor[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibroid Tumors[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibroid of Body of Uterus[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid of Corpus Uteri[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid of Uterine Body[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid of Uterine Corpus[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid of the Body of Uterus[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid of the Corpus Uteri[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid of the Uterine Body[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid of the Uterine Corpus[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Fibroid uterus[accessedResource: SNOMEDCT:95315005][accessDate: 05-04-2011]
Fibroid, Uterine[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibroid[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibroids, Uterine[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibroids[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibroleiomyoma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011]
Fibroma, Uterine[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibromas, Uterine[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibromyoma[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Fibromyomas[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Leiomyofibroma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011]
Leiomyoma of Body of Uterus[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Leiomyoma of Uterine Body[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Leiomyoma of Uterine Corpus[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Leiomyoma of the Body of Uterus[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Leiomyoma of the Corpus Uteri[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Leiomyoma of the Uterine Body[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Leiomyoma of the Uterine Corpus[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Leiomyoma of uterus, unspecified[accessedResource: ICD9:218.9][accessDate: 05-04-2011]
Leiomyoma, NOS[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011]
Leiomyoma, no ICD-O subtype (morphologic abnormality)
Leiomyoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011]
Leiomyoma, no ICD-O subtype[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011]
Leiomyoma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011]
Leiomyomas[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Lipoleiomyoma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011]
Myofibroma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011]
Plexiform leiomyoma[accessedResource: DOID:13223][accessDate: 05-04-2011]
Tumor, Fibroid[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Tumors, Fibroid[accessedResource: MSH:D007889][accessDate: 05-04-2011]
UTERUS FIBROMA[accessedResource: DOID:13223][accessDate: 05-04-2011]
Uterine Body Fibroid[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Uterine Body Leiomyoma[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Uterine Corpus Fibroid[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Uterine Corpus Leiomyoma[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Uterine Corpus Leiomyomata[accessedResource: NCIt:C3434][accessDate: 05-04-2011]
Uterine Fibroids[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Uterine Fibroma[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Uterine Fibromas[accessedResource: MSH:D007889][accessDate: 05-04-2011]
Uterine leiomyoma - fibroids[accessedResource: SNOMEDCT:95315005][accessDate: 05-04-2011]
Uterine leiomyoma NOS[accessedResource: SNOMEDCT:189106003][accessDate: 05-04-2011]
Uterine leiomyoma, NOS[accessedResource: SNOMEDCT:95315005][accessDate: 05-04-2011]
Uterine leiomyoma[accessedResource: SNOMEDCT:95315005][accessDate: 05-04-2011]
Uterus, Fibroid[accessedResource: MSH:D007889][accessDate: 05-04-2011]
leiomyoma of Corpus Uteri[accessedResource: DOID:13223][accessDate: 05-04-2011]
uterine leiomyoma (disorder)[accessedResource: DOID:13223][accessDate: 05-04-2011]
uterine leiomyoma NOS (disorder)[accessedResource: DOID:13223][accessDate: 05-04-2011]
A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered.
A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)
A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)[accessedResource: MSH:D014806][accessDate: 05-04-2011]
Cobalamin deficiency (disorder)[accessedResource: DOID:8459][accessDate: 05-04-2011]
Cobalamin deficiency[accessedResource: SNOMEDCT:190634004][accessDate: 05-04-2011]
DEFIC VITAMIN B 12[accessedResource: MSH:D014806][accessDate: 05-04-2011]
DEFIC VITAMIN B12[accessedResource: MSH:D014806][accessDate: 05-04-2011]
Deficiencies, Vitamin B12[accessedResource: MSH:D014806][accessDate: 05-04-2011]
Deficiency of vitamin B12[accessedResource: SNOMEDCT:190634004][accessDate: 05-04-2011]
Deficiency of vitamin B>12<[accessedResource: SNOMEDCT:190634004][accessDate: 05-04-2011]
Deficiency, Vitamin B 12[accessedResource: MSH:D014806][accessDate: 05-04-2011]
Deficiency, Vitamin B12[accessedResource: MSH:D014806][accessDate: 05-04-2011]
VITAMIN B 12 DEFIC[accessedResource: MSH:D014806][accessDate: 05-04-2011]
VITAMIN B A 12 DEFICIENCY[accessedResource: MSH:D014806][accessDate: 05-04-2011]
VITAMIN B12 DEFIC[accessedResource: MSH:D014806][accessDate: 05-04-2011]
Vitamin B12 Deficiencies[accessedResource: MSH:D014806][accessDate: 05-04-2011]
deficiency of vitamin B>12< (disorder)[accessedResource: DOID:8459][accessDate: 05-04-2011]
vitamin B 12 deficiency[accessedResource: DOID:8459][accessDate: 05-04-2011]
The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds.
A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.
A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.[accessedResource: NCIt:C4250][accessDate: 05-04-2011]
Well Differentiated Liposarcoma[accessedResource: NCIt:C4250][accessDate: 05-04-2011]
An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling
An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution.
<WEB> http://en.wikipedia.org/wiki/ChIP-on-chip
An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology.
comparative genomic hybridization by array
An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria.
An assay in which variation in the genome is analysed
An assay in which the methylation state is determined and is compared between samples.
An assay in which one or more metabolites are analysed.
An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome.
An experiment in which re-sequencing technology (Solexa/454) is used to generate sequence which can be used to determine nucleic acid sequence, analyse the transcibed regions of the genome, or to quantitate transcript abundance
Split into two terms. RNA-seq and DNA-seq
A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)
A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)[accessedResource: MSH:D008545][accessDate: 05-04-2011]
A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.
A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.[accessedResource: NCIt:C3224][accessDate: 05-04-2011]
MM - Malignant melanoma[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011]
Malignant Melanomas[accessedResource: MSH:D008545][accessDate: 05-04-2011]
Malignant melanoma (disorder)[accessedResource: SNOMEDCT:372244006][accessDate: 05-04-2011]
Malignant melanoma (morphologic abnormality)
Malignant melanoma (morphologic abnormality)[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011]
Malignant melanoma, NOS[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011]
Malignant melanoma, morphology (morphologic abnormality)
Malignant melanoma, no ICD-O subtype (morphologic abnormality)
Malignant melanoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011]
Malignant melanoma, no ICD-O subtype[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011]
Malignant melanoma[accessedResource: SNOMEDCT:372244006][accessDate: 05-04-2011]
Melanoma, Malignant[accessedResource: MSH:D008545][accessDate: 05-04-2011]
Melanoma, NOS[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011]
Melanomas, Malignant[accessedResource: MSH:D008545][accessDate: 05-04-2011]
Melanomas[accessedResource: MSH:D008545][accessDate: 05-04-2011]
Melanosarcoma[accessedResource: SNOMEDCT:372244006][accessDate: 05-04-2011]
Naevocarcinoma[accessedResource: DOID:1909][accessDate: 05-04-2011]
[M]Malignant melanoma NOS (morphologic abnormality)
[M]Malignant melanoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:269503007][accessDate: 05-04-2011]
[M]Malignant melanoma NOS[accessedResource: SNOMEDCT:269503007][accessDate: 05-04-2011]
malignant melanoma NOS (morphologic abnormality)
malignant melanoma NOS (morphologic abnormality)[accessedResource: DOID:1909][accessDate: 05-04-2011]
malignant melanoma, morphology (morphologic abnormality)[accessedResource: DOID:1909][accessDate: 05-04-2011]
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.[accessedResource: MSH:D009136][accessDate: 05-04-2011]
An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.
An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.[accessedResource: DOID:9884][accessDate: 05-04-2011]
Dystrophies, Muscular[accessedResource: MSH:D009136][accessDate: 05-04-2011]
Dystrophy, Muscular[accessedResource: MSH:D009136][accessDate: 05-04-2011]
HERED PROG MUSC DYSTRPHY[accessedResource: ICD9:359.1][accessDate: 05-04-2011]
Hereditary progressive muscular dystrophy
Hereditary progressive muscular dystrophy (disorder)
Hereditary progressive muscular dystrophy (disorder)[accessedResource: SNOMEDCT:193225000][accessDate: 05-04-2011]
Hereditary progressive muscular dystrophy NOS
Hereditary progressive muscular dystrophy NOS (disorder)
Hereditary progressive muscular dystrophy NOS (disorder)[accessedResource: SNOMEDCT:193236007][accessDate: 05-04-2011]
Hereditary progressive muscular dystrophy NOS[accessedResource: SNOMEDCT:193236007][accessDate: 05-04-2011]
Hereditary progressive muscular dystrophy[accessedResource: ICD9:359.1][accessDate: 05-04-2011]
MD - Muscular dystrophy[accessedResource: SNOMEDCT:73297009][accessDate: 05-04-2011]
Muscular Dystrophies[accessedResource: MSH:D009136][accessDate: 05-04-2011]
Muscular dystrophy (disorder)[accessedResource: SNOMEDCT:73297009][accessDate: 05-04-2011]
Muscular dystrophy, NOS[accessedResource: SNOMEDCT:73297009][accessDate: 05-04-2011]
Myodystrophica[accessedResource: MSH:D009136][accessDate: 05-04-2011]
Myodystrophicas[accessedResource: MSH:D009136][accessDate: 05-04-2011]
Myodystrophies[accessedResource: MSH:D009136][accessDate: 05-04-2011]
Myodystrophy[accessedResource: MSH:D009136][accessDate: 05-04-2011]
PMD - Progressive muscular dystrophy[accessedResource: SNOMEDCT:73297009][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_13490' instead. New Label : Muscular dystrophy
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).[accessedResource: MSH:D049288][accessDate: 05-04-2011]
Leyden-Mbius muscular dystrophy[accessedResource: DOID:11724][accessDate: 05-04-2011]
Leyden-Mobius muscular dystrophy[accessedResource: SNOMEDCT:93153005][accessDate: 05-04-2011]
Limb Girdle Muscular Dystrophies[accessedResource: MSH:D049288][accessDate: 05-04-2011]
Limb-Girdle Muscular Dystrophies[accessedResource: MSH:D049288][accessDate: 05-04-2011]
Limb-girdle muscular dystrophy (disorder)
Limb-girdle muscular dystrophy (disorder)[accessedResource: SNOMEDCT:93153005][accessDate: 05-04-2011]
Muscular Dystrophies, Limb Girdle[accessedResource: MSH:D049288][accessDate: 05-04-2011]
Muscular Dystrophies, Limb-Girdle[accessedResource: MSH:D049288][accessDate: 05-04-2011]
Muscular Dystrophy, Limb Girdle[accessedResource: MSH:D049288][accessDate: 05-04-2011]
Muscular Dystrophy, Limb-Girdle[accessedResource: MSH:D049288][accessDate: 05-04-2011]
limb girdle muscular dystrophy[accessedResource: DOID:11724][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_8734' instead. New Label : Limb-girdle muscular dystrophy
A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.
A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.[accessedResource: NCIt:C3192][accessDate: 05-04-2011]
LIPOMA NEC[accessedResource: ICD9:214.8][accessDate: 05-04-2011]
LIPOMA SKIN NEC[accessedResource: ICD9:214.1][accessDate: 05-04-2011]
LIPOMATOSIS, FAMILIAL MULTIPLE[accessedResource: DOID:9291][accessDate: 05-04-2011]
Lipoma (clinical)[accessedResource: SNOMEDCT:93163002][accessDate: 05-04-2011]
Lipoma (disorder)[accessedResource: SNOMEDCT:93163002][accessDate: 05-04-2011]
Lipoma NOS (disorder)[accessedResource: SNOMEDCT:189018005][accessDate: 05-04-2011]
Lipoma NOS[accessedResource: SNOMEDCT:189018005][accessDate: 05-04-2011]
Lipoma of other skin and subcutaneous tissue
Lipoma of other skin and subcutaneous tissue[accessedResource: ICD9:214.1][accessDate: 05-04-2011]
Lipoma of other specified sites (disorder)
Lipoma of other specified sites (disorder)[accessedResource: SNOMEDCT:189013001][accessDate: 05-04-2011]
Lipoma of other specified sites[accessedResource: ICD9:214.8][accessDate: 05-04-2011]
Lipoma of unspecified body site[accessedResource: SNOMEDCT:93163002][accessDate: 05-04-2011]
Lipoma, NOS[accessedResource: SNOMEDCT:46720004][accessDate: 05-04-2011]
Lipoma, no ICD-O subtype (morphologic abnormality)
Lipoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:46720004][accessDate: 05-04-2011]
Lipoma, no ICD-O subtype[accessedResource: SNOMEDCT:46720004][accessDate: 05-04-2011]
Lipoma, unspecified site[accessedResource: ICD9:214.9][accessDate: 05-04-2011]
[M]Lipoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189776008][accessDate: 05-04-2011]
[M]Lipoma NOS[accessedResource: SNOMEDCT:189776008][accessDate: 05-04-2011]
multiple lipomatosis[accessedResource: DOID:9291][accessDate: 05-04-2011]
An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1).[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Epithelioid MPNST[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
MPNST - Malignant peripheral nerve sheath tumor
MPNST - Malignant peripheral nerve sheath tumor[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
MPNST - Malignant peripheral nerve sheath tumour
MPNST - Malignant peripheral nerve sheath tumour[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
MPNST with glandular differentiation[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
MPNST with mesenchymal differentiation[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
MPNST[accessedResource: MSH:D018317][accessDate: 05-04-2011]
MPNSTs[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Malignant Neoplasm of Peripheral Nerve Sheath
Malignant Neoplasm of Peripheral Nerve Sheath[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant Neoplasm of the Peripheral Nerve Sheath[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant Neurilemmoma[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant Neurilemoma[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant Peripheral Nerve Sheath Neoplasm
Malignant Peripheral Nerve Sheath Neoplasm[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant Peripheral Nerve Sheath Tumors
Malignant Peripheral Nerve Sheath Tumors[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Malignant Peripheral Nerve Sheath Tumour
Malignant Peripheral Nerve Sheath Tumour[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant Schwannoma[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant Tumor of Peripheral Nerve Sheath
Malignant Tumor of Peripheral Nerve Sheath[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant Tumor of the Peripheral Nerve Sheath
Malignant Tumor of the Peripheral Nerve Sheath[accessedResource: NCIt:C3798][accessDate: 05-04-2011]
Malignant peripheral nerve sheath tumor (disorder)[accessedResource: SNOMEDCT:404037002][accessDate: 05-04-2011]
Malignant peripheral nerve sheath tumor (morphologic abnormality)
Malignant peripheral nerve sheath tumor (morphologic abnormality)[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
Malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)
Melanotic MPNST[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
Melanotic psammomatous MPNST[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
NEOPL NERVE SHEATH[accessedResource: MSH:D018317][accessDate: 05-04-2011]
NERVE SHEATH NEOPL[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Neoplasm, Nerve Sheath[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Neoplasms, Nerve Sheath[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Nerve Sheath Neoplasm[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Nerve Sheath Neoplasms[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Nerve Sheath Tumors, Peripheral[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Nerve Sheath Tumors[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Neurofibrosarcoma [obs][accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
Neurofibrosarcoma[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
Neurogenic sarcoma [obs][accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
Neurogenic sarcoma[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
Neurosarcoma [obs][accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
Neurosarcoma[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011]
Perineurioma[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Perineuriomas[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Peripheral Nerve Sheath Tumors, Malignant
Peripheral Nerve Sheath Tumors, Malignant[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Peripheral Nerve Sheath Tumors[accessedResource: MSH:D018317][accessDate: 05-04-2011]
Tumors of the Nerve Sheath[accessedResource: MSH:D018317][accessDate: 05-04-2011]
malignant neoplasm of the peripheral nerve Sheath
malignant peripheral nerve sheath tumor (disorder)
malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)[accessedResource: DOID:5940][accessDate: 05-04-2011]
A normal class is a special type of disease factor used as a control, that is, one which is not known to be affected by any disease; being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm.
Being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm.
Being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm.[accessedResource: NCIt:C14165][accessDate: 05-04-2011]
Health[accessedResource: MSH:D006262][accessDate: 05-04-2011]
Normalcy[accessedResource: MSH:D006262][accessDate: 05-04-2011]
Normalities[accessedResource: MSH:D006262][accessDate: 05-04-2011]
Normality[accessedResource: MSH:D006262][accessDate: 05-04-2011]
The state of conforming to a type, standard, or regular pattern. (Merriam-Webster's Collegiate Dictionary, 10th ed)
The state of conforming to a type, standard, or regular pattern. (Merriam-Webster's Collegiate Dictionary, 10th ed)[accessedResource: MSH:D006262][accessDate: 05-04-2011]
The state of the organism when it functions optimally without evidence of disease.
The state of the organism when it functions optimally without evidence of disease.[accessedResource: MSH:D006262][accessDate: 05-04-2011]
A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.
A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.[accessedResource: NCIt:C3758][accessDate: 05-04-2011]
Adenoma of Liver Cells[accessedResource: NCIt:C3758][accessDate: 05-04-2011]
Adenoma of the Liver Cells[accessedResource: NCIt:C3758][accessDate: 05-04-2011]
HCA[accessedResource: NCIt:C3758][accessDate: 05-04-2011]
Liver Cell Adenoma[accessedResource: NCIt:C3758][accessDate: 05-04-2011]
A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus.
A Lentivirus infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands.
A Lentivirus infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands.[accessedResource: DOID:526][accessDate: 05-04-2011]
An infection caused by the human immunodeficiency virus.
An infection caused by the human immunodeficiency virus.[accessedResource: NCIt:C3108][accessDate: 05-04-2011]
HIV - Human immunodeficiency virus infection
HIV - Human immunodeficiency virus infection[accessedResource: SNOMEDCT:86406008][accessDate: 05-04-2011]
HIV INFECT[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HIV Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HIV infection[accessedResource: DOID:526][accessDate: 05-04-2011]
HTLV III INFECT[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV III Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV III LAV INFECT[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV III LAV Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV WIII INFECTIONS[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV WIII LAV INFECTIONS[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV-III Infection[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV-III Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV-III-LAV Infection[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HTLV-III-LAV Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011]
HUMAN IMMUNO VIRUS DIS[accessedResource: ICD9:042][accessDate: 05-04-2011]
HUMAN IMMUNODEFICIENCY VIRUS [HIV] INFECTION[accessedResource: ICD9:042-042.99][accessDate: 05-04-2011]
HUMAN IMMUNOdeficiency VIRUS [HIV] INFECTION
Human immunodeficiency virus [HIV] disease
Human immunodeficiency virus [HIV] disease[accessedResource: ICD9:042][accessDate: 05-04-2011]
Human immunodeficiency virus disease (disorder)
Human immunodeficiency virus infection (disorder)
Human immunodeficiency virus infection (disorder)[accessedResource: SNOMEDCT:86406008][accessDate: 05-04-2011]
Human immunodeficiency virus infection, NOS
Human immunodeficiency virus infection, NOS[accessedResource: SNOMEDCT:86406008][accessDate: 05-04-2011]
Human immunodeficiency virus infection[accessedResource: SNOMEDCT:86406008][accessDate: 05-04-2011]
Human immunodeficiency virus infectious disease
Human immunodeficiency virus infectious disease[accessedResource: DOID:526][accessDate: 05-04-2011]
Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).
Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).[accessedResource: MSH:D015658][accessDate: 05-04-2011]
Infection, HIV[accessedResource: MSH:D015658][accessDate: 05-04-2011]
Infection, HTLV-III-LAV[accessedResource: MSH:D015658][accessDate: 05-04-2011]
Infection, HTLV-III[accessedResource: MSH:D015658][accessDate: 05-04-2011]
Infections, HIV[accessedResource: MSH:D015658][accessDate: 05-04-2011]
Infections, HTLV-III-LAV[accessedResource: MSH:D015658][accessDate: 05-04-2011]
Infections, HTLV-III[accessedResource: MSH:D015658][accessDate: 05-04-2011]
LYMPHOTROPIC VIRUS TYPE III INFECTIONS HUMAN T
LYMPHOTROPIC VIRUS TYPE III INFECTIONS HUMAN T[accessedResource: MSH:D015658][accessDate: 05-04-2011]
T LYMPHOTROPIC VIRUS TYPE III INFECT HUMAN
T LYMPHOTROPIC VIRUS TYPE III INFECT HUMAN[accessedResource: MSH:D015658][accessDate: 05-04-2011]
T Lymphotropic Virus Type III Infections, Human
T Lymphotropic Virus Type III Infections, Human[accessedResource: MSH:D015658][accessDate: 05-04-2011]
T-Lymphotropic Virus Type III Infections, Human
T-Lymphotropic Virus Type III Infections, Human[accessedResource: MSH:D015658][accessDate: 05-04-2011]
Unspecified human immunodeficiency virus [HIV] disease (disorder)
[X]Human immunodeficiency virus disease (disorder)
[X]Human immunodeficiency virus disease (disorder)[accessedResource: SNOMEDCT:187438009][accessDate: 05-04-2011]
[X]Human immunodeficiency virus disease[accessedResource: SNOMEDCT:187438009][accessDate: 05-04-2011]
[X]Unspecified human immunodeficiency virus [HIV] disease
[X]Unspecified human immunodeficiency virus [HIV] disease (disorder)
[X]Unspecified human immunodeficiency virus [HIV] disease (disorder)[accessedResource: SNOMEDCT:187453001][accessDate: 05-04-2011]
[X]Unspecified human immunodeficiency virus [HIV] disease[accessedResource: SNOMEDCT:187453001][accessDate: 05-04-2011]
A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.[accessedResource: DOID:635][accessDate: 05-04-2011]
A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004
A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.
A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.[accessedResource: NCIt:C2851][accessDate: 05-04-2011]
ACQUIRED IMMUNE DEFIC SYNDROME[accessedResource: MSH:D000163][accessDate: 05-04-2011]
ACQUIRED IMMUNO DEFIC SYNDROME[accessedResource: MSH:D000163][accessDate: 05-04-2011]
ACQUIRED IMMUNODEFIC SYNDROME[accessedResource: MSH:D000163][accessDate: 05-04-2011]
ACQUIRED IMMUNODEFICIENCY SYNDROME, AIDS
ACQUIRED IMMUNODEFICIENCY SYNDROME, AIDS[accessedResource: NCIt:C2851][accessDate: 05-04-2011]
AIDS (disorder)[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
AIDS - Acquired immunodeficiency syndrome
AIDS - Acquired immunodeficiency syndrome[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME
AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME[accessedResource: NCIt:C2851][accessDate: 05-04-2011]
AIDS, NOS[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
Acquired Immune Deficiency[accessedResource: NCIt:C2851][accessDate: 05-04-2011]
Acquired Immuno Deficiency Syndrome[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Acquired Immuno-Deficiency Syndrome[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Acquired Immuno-Deficiency Syndromes[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Acquired Immunodeficiency Syndromes[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Acquired human immunodeficiency virus infection syndrome NOS
Acquired human immunodeficiency virus infection syndrome NOS (disorder)[accessedResource: SNOMEDCT:186715004][accessDate: 05-04-2011]
Acquired human immunodeficiency virus infection syndrome NOS[accessedResource: SNOMEDCT:186715004][accessDate: 05-04-2011]
Acquired immune deficiency syndrome (AIDS)
Acquired immune deficiency syndrome (AIDS) (disorder)
Acquired immune deficiency syndrome (AIDS) (disorder)[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
Acquired immune deficiency syndrome (AIDS)[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
Acquired immune deficiency syndrome, NOS
Acquired immune deficiency syndrome, NOS[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
Acquired immune deficiency syndrome[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.
Acquired immunodeficiency syndrome, NOS[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
Acquired immunodeficiency syndrome[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.[accessedResource: MSH:D000163][accessDate: 05-04-2011]
IMMUNODEFIC SYNDROME ACQUIRED[accessedResource: MSH:D000163][accessDate: 05-04-2011]
IMMUNOL DEFIC SYNDROME ACQUIRED[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Immuno-Deficiency Syndrome, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Immuno-Deficiency Syndromes, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Immunodeficiency Syndrome, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Immunodeficiency Syndromes, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Immunodeficiency due to human immunodeficiency virus infection
Immunodeficiency due to human immunodeficiency virus infection[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011]
Immunologic Deficiency Syndrome, Acquired
Immunologic Deficiency Syndrome, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Syndrome, Acquired Immuno-Deficiency[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Syndrome, Acquired Immunodeficiency[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Syndromes, Acquired Immuno-Deficiency[accessedResource: MSH:D000163][accessDate: 05-04-2011]
Syndromes, Acquired Immunodeficiency[accessedResource: MSH:D000163][accessDate: 05-04-2011]
acquired human immunodeficiency virus infection syndrome NOS (disorder)
obsolete_hereditary leiomyomatosis and renal cell cancer
HLRCC[accessedResource: NCIt:C51302][accessDate: 05-04-2011]
Hereditary Leiomyomatosis and Renal Cell Carcinoma
Hereditary Leiomyomatosis and Renal Cell Carcinoma[accessedResource: NCIt:C51302][accessDate: 05-04-2011]
hereditary leiomyomatosis and renal cell cancer syndrome
hereditary leiomyomatosis and renal cell cancer syndrome[accessedResource: NCIt:C51302][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_8649' instead. New Label : Familial leiomyomatosis
A disease of the heart muscle or myocardium proper whose cause is unknown.
A disease of the heart muscle or myocardium proper whose cause is unknown.[accessedResource: NCIt:C53654][accessDate: 05-04-2011]
Chronic and progressive fibrosis of the lung parenchyma of unknown cause.
Chronic and progressive fibrosis of the lung parenchyma of unknown cause.[accessedResource: NCIt:C35716][accessDate: 05-04-2011]
IPF[accessedResource: NCIt:C35716][accessDate: 05-04-2011]
A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.
A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.[accessedResource: DOID:2938][accessDate: 05-04-2011]
EBV INFECT[accessedResource: MSH:D020031][accessDate: 05-04-2011]
EBV Infection[accessedResource: MSH:D020031][accessDate: 05-04-2011]
EBV Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011]
EPSTEIN BARR VIRUS INFECT[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Epstein Barr Virus Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Epstein-Barr Virus Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Epstein-Barr virus infection (disorder)[accessedResource: SNOMEDCT:402121009][accessDate: 05-04-2011]
Epstein-Barr virus infectious disease[accessedResource: DOID:2938][accessDate: 05-04-2011]
HERPESVIRUS 4 INFECT HUMAN[accessedResource: MSH:D020031][accessDate: 05-04-2011]
HUMAN HERPES VIRUS 4 INFECT[accessedResource: MSH:D020031][accessDate: 05-04-2011]
HUMAN HERPESVIRUS 4 INFECT[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Herpesvirus 4 Infections, Human[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Human Herpes Virus 4 Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Human Herpesvirus 4 Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011]
INFECT EBV[accessedResource: MSH:D020031][accessDate: 05-04-2011]
INFECT EPSTEIN BARR VIRUS[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).
Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Infections, EBV[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Infections, Epstein-Barr Virus[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Virus Infections, Epstein-Barr[accessedResource: MSH:D020031][accessDate: 05-04-2011]
Malignant Mesothelioma of Pleura[accessedResource: NCIt:C7376][accessDate: 05-04-2011]
Malignant Mesothelioma of the Pleura[accessedResource: NCIt:C7376][accessDate: 05-04-2011]
Malignant mesothelioma of pleura (disorder)[accessedResource: SNOMEDCT:254645002][accessDate: 05-04-2011]
Mesothelioma (malignant) of pleura (disorder)
Mesothelioma (malignant) of pleura (disorder)[accessedResource: DOID:7474][accessDate: 05-04-2011]
Pleural Malignant Mesothelioma[accessedResource: NCIt:C7376][accessDate: 05-04-2011]
malignant mesothelioma of pleura (disorder)
A bacterial disease is a disease factor that is caused primarily by bacteria.
INFECT PNEUMOCOCCAL[accessedResource: MSH:D011008][accessDate: 05-04-2011]
INFECT STREP PNEUMONIAE[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Infection, Pneumococcal[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Infection, Streptococcus pneumoniae[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.
Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Infections, Pneumococcal[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Infections, Streptococcus pneumoniae[accessedResource: MSH:D011008][accessDate: 05-04-2011]
PNEUMOCOCCAL INFECT[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Pneumococcal Infections[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Pneumococcal infection, NOS[accessedResource: SNOMEDCT:16814004][accessDate: 05-04-2011]
Pneumococcal infectious disease (disorder)
Pneumococcal infectious disease (disorder)[accessedResource: SNOMEDCT:16814004][accessDate: 05-04-2011]
Pneumococcal infectious disease, NOS[accessedResource: SNOMEDCT:16814004][accessDate: 05-04-2011]
Pneumococcal infectious disease[accessedResource: SNOMEDCT:16814004][accessDate: 05-04-2011]
STREP PNEUMONIAE INFECT[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Streptococcus pneumoniae Infection[accessedResource: MSH:D011008][accessDate: 05-04-2011]
Streptococcus pneumoniae Infections[accessedResource: MSH:D011008][accessDate: 05-04-2011]
pneumoniae Infection, Streptococcus[accessedResource: MSH:D011008][accessDate: 05-04-2011]
pneumoniae Infections, Streptococcus[accessedResource: MSH:D011008][accessDate: 05-04-2011]
A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH).
A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH).[accessedResource: NIFSTD:birnlex_12733][accessDate: 05-04-2011]
A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)
A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Benign Psychomotor Epilepsy, Childhood[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Childhood Benign Psychomotor Epilepsy[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Epilepsies, Lateral Temporal[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Epilepsies, Temporal Lobe[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Epilepsies, Uncinate[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Epilepsy, Benign Psychomotor, Childhood[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Epilepsy, Lateral Temporal[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Epilepsy, Uncinate[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Lateral Temporal Epilepsies[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Lateral Temporal Epilepsy[accessedResource: NIFSTD:birnlex_12733][accessDate: 05-04-2011]
Psychomotor seizure[accessedResource: SNOMEDCT:193000002][accessDate: 05-04-2011]
TLE - Temporal lobe epilepsy[accessedResource: SNOMEDCT:193000002][accessDate: 05-04-2011]
Temporal Lobe Epilepsies[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Temporal lobe epilepsy (disorder) [Ambiguous]
Temporal lobe epilepsy (disorder) [Ambiguous][accessedResource: DOID:3328][accessDate: 05-04-2011]
Temporal lobe epilepsy (disorder)[accessedResource: DOID:3328][accessDate: 05-04-2011]
Uncinate Epilepsies[accessedResource: MSH:D004833][accessDate: 05-04-2011]
Uncinate Epilepsy[accessedResource: MSH:D004833][accessDate: 05-04-2011]
epilepsy, temporal lobe[accessedResource: DOID:3328][accessDate: 05-04-2011]
A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. --2004
A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. --2004[accessedResource: NCIt:C3423][accessDate: 05-04-2011]
Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM.
Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM.[accessedResource: MSH:D014376][accessDate: 05-04-2011]
Disease, Koch's[accessedResource: MSH:D014376][accessDate: 05-04-2011]
Disease, Kochs[accessedResource: MSH:D014376][accessDate: 05-04-2011]
Infection due to Mycobacterium tuberculosis
Infection due to Mycobacterium tuberculosis (disorder)
Infection due to Mycobacterium tuberculosis (disorder)[accessedResource: SNOMEDCT:373576009][accessDate: 05-04-2011]
Infection due to Mycobacterium tuberculosis[accessedResource: SNOMEDCT:373576009][accessDate: 05-04-2011]
Koch Disease[accessedResource: MSH:D014376][accessDate: 05-04-2011]
Koch's Disease[accessedResource: MSH:D014376][accessDate: 05-04-2011]
Kochs Disease[accessedResource: MSH:D014376][accessDate: 05-04-2011]
MTB - Mycobacterium tuberculosis infection
MTB - Mycobacterium tuberculosis infection[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011]
Mycobacterium tuberculosis infection[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011]
TB - Tuberculosis[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011]
TB OF ORGAN NEC-CULT DX[accessedResource: ICD9:017.94][accessDate: 05-04-2011]
TB OF ORGAN NEC-HISTO DX[accessedResource: ICD9:017.95][accessDate: 05-04-2011]
TB OF ORGAN NEC-MICRO DX[accessedResource: ICD9:017.93][accessDate: 05-04-2011]
TB OF ORGAN NEC-NO EXAM[accessedResource: ICD9:017.91][accessDate: 05-04-2011]
TB OF ORGAN NEC-OTH TEST[accessedResource: ICD9:017.96][accessDate: 05-04-2011]
TB OF ORGAN NEC-UNSPEC[accessedResource: ICD9:017.90][accessDate: 05-04-2011]
TB ORGAN NEC-EXAM UNKN[accessedResource: ICD9:017.92][accessDate: 05-04-2011]
TB[accessedResource: NCIt:C3423][accessDate: 05-04-2011]
Tuberculoma (finding)[accessedResource: DOID:399][accessDate: 05-04-2011]
Tuberculoses[accessedResource: MSH:D014376][accessDate: 05-04-2011]
Tuberculosis (disorder)[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011]
Tuberculosis NOS (disorder)[accessedResource: SNOMEDCT:186282009][accessDate: 05-04-2011]
Tuberculosis NOS[accessedResource: SNOMEDCT:186282009][accessDate: 05-04-2011]
Tuberculosis of other organs (disorder)[accessedResource: SNOMEDCT:186247008][accessDate: 05-04-2011]
Tuberculosis of other organs NOS (disorder)
Tuberculosis of other organs NOS (disorder)[accessedResource: SNOMEDCT:186275005][accessDate: 05-04-2011]
Tuberculosis of other organs NOS[accessedResource: SNOMEDCT:186275005][accessDate: 05-04-2011]
Tuberculosis of other organs[accessedResource: SNOMEDCT:186247008][accessDate: 05-04-2011]
Tuberculosis of other specified organs (disorder)
Tuberculosis of other specified organs (disorder)[accessedResource: SNOMEDCT:186271001][accessDate: 05-04-2011]
Tuberculosis of other specified organs NOS
Tuberculosis of other specified organs NOS (disorder)
Tuberculosis of other specified organs NOS (disorder)[accessedResource: SNOMEDCT:186274009][accessDate: 05-04-2011]
Tuberculosis of other specified organs NOS[accessedResource: SNOMEDCT:186274009][accessDate: 05-04-2011]
Tuberculosis of other specified organs, bacteriological or histological examination not done
Tuberculosis of other specified organs, bacteriological or histological examination not done[accessedResource: ICD9:017.91][accessDate: 05-04-2011]
Tuberculosis of other specified organs, bacteriological or histological examination unknown (at present)
Tuberculosis of other specified organs, bacteriological or histological examination unknown (at present)[accessedResource: ICD9:017.92][accessDate: 05-04-2011]
Tuberculosis of other specified organs, tubercle bacilli found (in sputum) by microscopy
Tuberculosis of other specified organs, tubercle bacilli found (in sputum) by microscopy[accessedResource: ICD9:017.93][accessDate: 05-04-2011]
Tuberculosis of other specified organs, tubercle bacilli not found (in sputum) by microscopy, but found by bacterial culture
Tuberculosis of other specified organs, tubercle bacilli not found (in sputum) by microscopy, but found by bacterial culture[accessedResource: ICD9:017.94][accessDate: 05-04-2011]
Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological examination, but tuberculosis confirmed histologically
Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological examination, but tuberculosis confirmed histologically[accessedResource: ICD9:017.95][accessDate: 05-04-2011]
Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological or histological examination, but tuberculosis confirmed by other methods [inoculation of animals]
Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological or histological examination, but tuberculosis confirmed by other methods [inoculation of animals][accessedResource: ICD9:017.96][accessDate: 05-04-2011]
Tuberculosis of other specified organs, unspecified examination
Tuberculosis of other specified organs, unspecified examination[accessedResource: ICD9:017.90][accessDate: 05-04-2011]
Tuberculosis of other specified organs[accessedResource: ICD9:017.9][accessDate: 05-04-2011]
Tuberculosis, NOS[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011]
Tuberculous (qualifier value)[accessedResource: SNOMEDCT:371569005][accessDate: 05-04-2011]
Tuberculous[accessedResource: SNOMEDCT:371569005][accessDate: 05-04-2011]
[X]Tuberculosis of other specified organs
[X]Tuberculosis of other specified organs (disorder)
[X]Tuberculosis of other specified organs (disorder)[accessedResource: SNOMEDCT:187292005][accessDate: 05-04-2011]
[X]Tuberculosis of other specified organs[accessedResource: SNOMEDCT:187292005][accessDate: 05-04-2011]
tuberculoma[accessedResource: DOID:399][accessDate: 05-04-2011]
tuberculous abscess[accessedResource: DOID:399][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_863' instead. New Label : Tuberculosis
A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS.
A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS.[accessedResource: MSH:D008061][accessDate: 05-04-2011]
Disease, Whipple's[accessedResource: MSH:D008061][accessDate: 05-04-2011]
Disease, Whipple[accessedResource: MSH:D008061][accessDate: 05-04-2011]
Intestinal Lipodystrophy[accessedResource: MSH:D008061][accessDate: 05-04-2011]
Intestinal Whipple's disease[accessedResource: SNOMEDCT:41545003][accessDate: 05-04-2011]
Lipodystrophy, Intestinal[accessedResource: MSH:D008061][accessDate: 05-04-2011]
WD - Whipple's disease[accessedResource: SNOMEDCT:41545003][accessDate: 05-04-2011]
WHIPPLE DIS[accessedResource: MSH:D008061][accessDate: 05-04-2011]
WHIPPLES DIS[accessedResource: MSH:D008061][accessDate: 05-04-2011]
Whipple disease[accessedResource: DOID:8476][accessDate: 05-04-2011]
Whipple's disease (disorder)[accessedResource: DOID:8476][accessDate: 05-04-2011]
Whipples Disease[accessedResource: MSH:D008061][accessDate: 05-04-2011]
Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.
A Bacillaceae infectious disease that results_in infection located_in skin, located_in lung or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.[accessedResource: DOID:7427][accessDate: 05-04-2011]
ANTHRAX NOS[accessedResource: ICD9:022.9][accessDate: 05-04-2011]
Anthrax (disorder)[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011]
Anthrax NOS (disorder)[accessedResource: SNOMEDCT:186304006][accessDate: 05-04-2011]
Anthrax, unspecified[accessedResource: ICD9:022.9][accessDate: 05-04-2011]
Charbon[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011]
Infection due to Bacillus anthracis[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011]
Milzbrand[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011]
OTHER ANTHRAX MANIFEST[accessedResource: ICD9:022.8][accessDate: 05-04-2011]
Other specified anthrax manifestations (disorder)
Other specified anthrax manifestations (disorder)[accessedResource: SNOMEDCT:186303000][accessDate: 05-04-2011]
Other specified anthrax manifestations[accessedResource: SNOMEDCT:186303000][accessDate: 05-04-2011]
Other specified manifestations of anthrax
Other specified manifestations of anthrax[accessedResource: ICD9:022.8][accessDate: 05-04-2011]
Splenic fever[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011]
[X]Anthrax, unspecified (disorder)[accessedResource: SNOMEDCT:187302001][accessDate: 05-04-2011]
[X]Anthrax, unspecified[accessedResource: SNOMEDCT:187302001][accessDate: 05-04-2011]
anthrax disease[accessedResource: DOID:7427][accessDate: 05-04-2011]
Hibiscus chlorotic ringspot virus infection
An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.
An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.[accessedResource: NCIt:C27578][accessDate: 05-04-2011]
Focal Myositides[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Focal Myositis[accessedResource: MSH:D009220][accessDate: 05-04-2011]
IDIOPATHIC INFLAMM MYOPATHIES[accessedResource: MSH:D009220][accessDate: 05-04-2011]
INFECT MYOSITIS[accessedResource: MSH:D009220][accessDate: 05-04-2011]
INFLAMM MUSCLE DIS[accessedResource: MSH:D009220][accessDate: 05-04-2011]
INFLAMM MYOPATHIES IDIOPATHIC[accessedResource: MSH:D009220][accessDate: 05-04-2011]
INFLAMM MYOPATHY[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Idiopathic Inflammatory Myopathies[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Idiopathic Inflammatory Myopathy[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Infectious Myositides[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Infectious Myositis[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Inflammation of a muscle or muscle tissue.
Inflammation of a muscle or muscle tissue.[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Inflammatory Muscle Disease[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Inflammatory Muscle Diseases[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Inflammatory Myopathies, Idiopathic[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Inflammatory Myopathies[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Inflammatory Myopathy, Idiopathic[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Inflammatory disorder of muscle (disorder)
Inflammatory disorder of muscle (disorder)[accessedResource: DOID:633][accessDate: 05-04-2011]
Inflammatory disorder of muscle[accessedResource: SNOMEDCT:128496001][accessDate: 05-04-2011]
Inflammatory myopathy[accessedResource: SNOMEDCT:128496001][accessDate: 05-04-2011]
MUSCLE DIS INFLAMM[accessedResource: MSH:D009220][accessDate: 05-04-2011]
MUSCLE/LIGAMENT DIS NOS[accessedResource: ICD9:728.9][accessDate: 05-04-2011]
MYALGIA AND MYOSITIS NOS[accessedResource: ICD9:729.1][accessDate: 05-04-2011]
MYOPATHIES IDIOPATHIC INFLAMM[accessedResource: MSH:D009220][accessDate: 05-04-2011]
MYOPATHY INFLAMM[accessedResource: MSH:D009220][accessDate: 05-04-2011]
MYOSITIS INFECT[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Muscle Disease, Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Muscle Diseases, Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Muscle inflammation[accessedResource: SNOMEDCT:26889001][accessDate: 05-04-2011]
Mylagia and myositis, unspecified[accessedResource: ICD9:729.1][accessDate: 05-04-2011]
Myopathies, Idiopathic Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myopathies, Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myopathy, Idiopathic Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myopathy, Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myositides, Focal[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myositides, Infectious[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myositides, Proliferative[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myositides[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myositis (disorder)[accessedResource: DOID:633][accessDate: 05-04-2011]
Myositis NOS[accessedResource: DOID:633][accessDate: 05-04-2011]
Myositis unspecified (disorder)[accessedResource: DOID:633][accessDate: 05-04-2011]
Myositis unspecified[accessedResource: SNOMEDCT:203110007][accessDate: 05-04-2011]
Myositis, Focal[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myositis, Infectious[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Myositis, NOS[accessedResource: SNOMEDCT:26889001][accessDate: 05-04-2011]
Myositis, Proliferative[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Proliferative Myositides[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Proliferative Myositis[accessedResource: MSH:D009220][accessDate: 05-04-2011]
Unspecified disorder of muscle, ligament, and fascia
Unspecified disorder of muscle, ligament, and fascia[accessedResource: ICD9:728.9][accessDate: 05-04-2011]
A specialized form of connective tissue consisting primarily of adipocytes (fat cells), surrounded by a meshwork of collagen fibers.
A specialized form of connective tissue consisting primarily of adipocytes (fat cells), surrounded by a meshwork of collagen fibers.[accessedResource: NCIt:C12472][accessDate: 05-04-2011]
Adipose Tissue[accessedResource: NCIt:C12472][accessDate: 05-04-2011]
BODYFAT[accessedResource: NCIt:C12472][accessDate: 05-04-2011]
Body Fat[accessedResource: NCIt:C12472][accessDate: 05-04-2011]
Connective tissue in which fat is stored and which has the cells distended by droplets of fat.
Connective tissue in which fat is stored and which has the cells distended by droplets of fat.[accessedResource: BTO:0001487][accessDate: 05-04-2011]
The system of organs and cells involved in fat storage.
The system of organs and cells involved in fat storage.[accessedResource: FBbt:00005065][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001013 label : adipose tissue
adipose system[accessedResource: FBbt:00005065][accessDate: 05-04-2011]
adipose[accessedResource: NCIt:C12472][accessDate: 05-04-2011]
CARDIOVASC SYSTEM[accessedResource: MSH:D002319][accessDate: 05-04-2011]
CV system[accessedResource: FMAID:7161][accessDate: 05-04-2011]
Cardiovascular Systems[accessedResource: MSH:D002319][accessDate: 05-04-2011]
Organ system which consists of the heart, the systemic and pulmonary arterial and venous system, the lymphatic and the portal venous system.
System, Cardiovascular[accessedResource: MSH:D002319][accessDate: 05-04-2011]
Systems, Cardiovascular[accessedResource: MSH:D002319][accessDate: 05-04-2011]
The HEART and the BLOOD VESSELS by which BLOOD is pumped and circulated through the body.
The HEART and the BLOOD VESSELS by which BLOOD is pumped and circulated through the body.[accessedResource: MSH:D002319][accessDate: 05-04-2011]
The system of heart and blood vessels.[accessedResource: BTO:0000088][accessDate: 05-04-2011]
circulatory system[accessedResource: FBbt:00005057][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004535 label: cardiovascular system
Organism subdivision which is the part of the body which consists of the cranial and pharyngeal regions.
Organism subdivision which is the part of the body which consists of the cranial and pharyngeal regions.[accessedResource: ZFA:0001114][accessDate: 05-04-2011]
The larval cranium exclusive of the dorsal apotome.
The larval cranium exclusive of the dorsal apotome.[accessedResource: TGMA:0000720][accessDate: 05-04-2011]
adult head[accessedResource: FBbt:00003007][accessDate: 05-04-2011]
epicranial plate[accessedResource: TGMA:0000720][accessDate: 05-04-2011]
head[accessedResource: ZFA:0001114][accessDate: 05-04-2011]
Alimentary system[accessedResource: FMAID:7152][accessDate: 05-04-2011]
The organ system involved in the absorption of nutrients.
The organ system involved in the absorption of nutrients.[accessedResource: FBbt:00005055][accessDate: 05-04-2011]
digestive system[accessedResource: FBbt:00005055][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001007 label: digestive system
.[accessedResource: FBbt:00000052][accessDate: 05-04-2011]
Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.
Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[accessedResource: TAO:0001105][accessDate: 05-04-2011]
embryo[accessedResource: FBbt:00000052][accessDate: 05-04-2011]
embryonic structure[accessedResource: TAO:0001105][accessDate: 05-04-2011]
fluid - animal[accessedResource: MAT:0000020][accessDate: 05-04-2011]
A cell, group of cells, or organ of endothelial origin that selectively removes materials from the blood, concentrates or alters them, and secretes them for further use in the body or for elimination from the body.
A cell, group of cells, or organ of endothelial origin that selectively removes materials from the blood, concentrates or alters them, and secretes them for further use in the body or for elimination from the body.[accessedResource: BTO:0000522][accessDate: 05-04-2011]
Endocrine system of the adult.[accessedResource: FBbt:00003214][accessDate: 05-04-2011]
adult endocrine system[accessedResource: FBbt:00003214][accessDate: 05-04-2011]
endocrine system[accessedResource: TAO:0001158][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002530 label: gland
hematological system[accessedResource: MAT:0000022][accessDate: 05-04-2011]
Use: http://purl.obolibrary.org/obo/UBERON_0000026 label: appendage
Use http://purl.obolibrary.org/obo/UBERON_0002423 label: hepatobiliary system
The bodily system that is composed of skeletal, smooth, and cardiac muscle tissue and functions in movement of the body or of materials through the body, maintenance of posture, and heat production.
The bodily system that is composed of skeletal, smooth, and cardiac muscle tissue and functions in movement of the body or of materials through the body, maintenance of posture, and heat production.[accessedResource: BTO:0001485][accessDate: 05-04-2011]
muscle system[accessedResource: MAT:0000025][accessDate: 05-04-2011]
muscle[accessedResource: TAO:0000548][accessDate: 05-04-2011]
muscles[accessedResource: TAO:0000548][accessDate: 05-04-2011]
musculature system[accessedResource: ZFA:0000548][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000383 label: musculature of body
A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS).
A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)
A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)[accessedResource: TAO:0000396][accessDate: 05-04-2011]
A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS).[accessedResource: ZFA:0000396][accessDate: 05-04-2011]
All the nerve centers and nerve fibers in the central, visceral and peripheral nervous systems.
All the nerve centers and nerve fibers in the central, visceral and peripheral nervous systems.[accessedResource: FBbt:00005093][accessDate: 05-04-2011]
The nervous system is essentially a biological information highway, and is responsible for controlling all the biological processes and movement in the body, and can also receive information and interpret it via electrical signals which are used in this nervous system. It consists of the Central Nervous System (CNS), essentially the processing area and the Peripheral Nervous System which detects and sends electrical impulses that are used in the nervous system.
The nervous system is essentially a biological information highway, and is responsible for controlling all the biological processes and movement in the body, and can also receive information and interpret it via electrical signals which are used in this nervous system. It consists of the Central Nervous System (CNS), essentially the processing area and the Peripheral Nervous System which detects and sends electrical impulses that are used in the nervous system.[accessedResource: BTO:0001484][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001016 label: nervous system
Systema urinaria[accessedResource: FMAID:7159][accessDate: 05-04-2011]
Urinary system[accessedResource: FMAID:7159][accessDate: 05-04-2011]
excretory system[accessedResource: FBbt:00005056][accessDate: 05-04-2011]
renal/urinary system[accessedResource: MAT:0000027][accessDate: 05-04-2011]
.[accessedResource: FBbt:00005024][accessDate: 05-04-2011]
A system of organs subserving the function of respiration and in air-breathing vertebrates consisting typically of the lungs and their nervous and circulatory supply and the channels by which these are continuous with the outer air.
A system of organs subserving the function of respiration and in air-breathing vertebrates consisting typically of the lungs and their nervous and circulatory supply and the channels by which these are continuous with the outer air.[accessedResource: BTO:0000203][accessDate: 05-04-2011]
Apparatus respiratorius[accessedResource: FMAID:7158][accessDate: 05-04-2011]
respiratory system[accessedResource: MAT:0000030][accessDate: 05-04-2011]
tracheal system[accessedResource: FBbt:00005024][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001004 label: respiratory system
Multicellular anatomical structure with largely bona fide boundary that transduces some sensory stimulus to the nervous system.
Multicellular anatomical structure with largely bona fide boundary that transduces some sensory stimulus to the nervous system.[accessedResource: FBbt:00005155][accessDate: 05-04-2011]
central caudal thalamic nucleus[accessedResource: TAO:0000182][accessDate: 05-04-2011]
central posterior thalamic nucleus[accessedResource: TAO:0000182][accessDate: 05-04-2011]
sense organ[accessedResource: FBbt:00005155][accessDate: 05-04-2011]
sensory systems[accessedResource: ZFA:0000282][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001032 label: sensory system
Anatomical system consisting of multiple elements and tissues that provides physical support.
Anatomical system consisting of multiple elements and tissues that provides physical support.[accessedResource: TAO:0000434][accessDate: 05-04-2011]
Set of all bones[accessedResource: FMAID:23875][accessDate: 05-04-2011]
Set of bones of body[accessedResource: FMAID:23875][accessDate: 05-04-2011]
Skeleton (in vivo)[accessedResource: FMAID:23875][accessDate: 05-04-2011]
skeleton component[accessedResource: MAT:0000032][accessDate: 05-04-2011]
skeleton[accessedResource: MAT:0000032][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001434 label: skeletal system
A division of the whole organism into specialized systems.
A division of the whole organism into specialized systems.[accessedResource: FBbt:00004856][accessDate: 05-04-2011]
Integumentary system[accessedResource: FMAID:72979][accessDate: 05-04-2011]
Something that covers or encloses; especially: an enveloping layer (as a skin, membrane, or husk) of an organism or one of its parts.
Something that covers or encloses; especially: an enveloping layer (as a skin, membrane, or husk) of an organism or one of its parts.[accessedResource: BTO:0000634][accessDate: 05-04-2011]
The taxon-independent term for the outer covering of an organism
The taxon-independent term for the outer covering of an organism[accessedResource: MAT:0000033][accessDate: 05-04-2011]
integument[accessedResource: MAT:0000033][accessDate: 05-04-2011]
organ system[accessedResource: FBbt:00004856][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002416 label: integumental system
Anatomical structure which is a primary subdivision of whole organism. The mereological sum of these is the whole organism.
Anatomical structure which is a primary subdivision of whole organism. The mereological sum of these is the whole organism.[accessedResource: TAO:0001308][accessDate: 05-04-2011]
Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum.
Principal body part subdivision[accessedResource: FMAID:67504][accessDate: 05-04-2011]
Subdivision of cardinal body part[accessedResource: FMAID:67504][accessDate: 05-04-2011]
body part[accessedResource: TAO:0001308][accessDate: 05-04-2011]
organism subdivision[accessedResource: TAO:0001308][accessDate: 05-04-2011]
Genital system[accessedResource: FMAID:7160][accessDate: 05-04-2011]
reproductive system - animals[accessedResource: MAT:0000305][accessDate: 05-04-2011]
reproductive system[accessedResource: FBbt:00004857][accessDate: 05-04-2011]
A fat body is an insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism.
A fat body is an insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism.[accessedResource: TGMA:0001856][accessDate: 05-04-2011]
An invertebrate tissue which serves as a store of lipids and in nwhich a great deal of catabolic and anabolic activity occurs
An invertebrate tissue which serves as a store of lipids and in nwhich a great deal of catabolic and anabolic activity occurs[accessedResource: MAT:0000096][accessDate: 05-04-2011]
Collective term for the masses and sheets of adipose tissue that are distributed throughout the organism's body.
Collective term for the masses and sheets of adipose tissue that are distributed throughout the organism's body.[accessedResource: FBbt:00005066][accessDate: 05-04-2011]
fat body[accessedResource: FBbt:00005066][accessDate: 05-04-2011]
An adipose tissue associated with the amphibiian gonad
An adipose tissue associated with the amphibiian gonad[accessedResource: MAT:0000456][accessDate: 05-04-2011]
Fat_bodies[accessedResource: MAT:0000456][accessDate: 05-04-2011]
A mammalian heat-producing tissue occurring especially in human newborns and in hibernators.
A mammalian heat-producing tissue occurring especially in human newborns and in hibernators.[accessedResource: BTO:0000156][accessDate: 05-04-2011]
Adipose Tissue - Brown (MMHCC)[accessedResource: NCIt:C22704][accessDate: 05-04-2011]
brown adipose tissue[accessedResource: BTO:0000156][accessDate: 05-04-2011]
Any of the tubular branching muscular- and elastic-walled vessels that carry blood from the heart through the body.
Any of the tubular branching muscular- and elastic-walled vessels that carry blood from the heart through the body.[accessedResource: BTO:0000573][accessDate: 05-04-2011]
Arterial subtree[accessedResource: FMAID:50720][accessDate: 05-04-2011]
Arterial tree organ part[accessedResource: FMAID:50720][accessDate: 05-04-2011]
Arterial vessel[accessedResource: FMAID:50720][accessDate: 05-04-2011]
Subdivision of arterial tree (organ) which consists of branching sets of tubes (arterial trunk) that form a tree; together with other arterial trees (organ part), it constitutes an arterial tree (organ). Examples: pulmonary arterial tree, right coronary arterial tree, superior mesenteric tree.
Vessels that carry blood away from the heart.
Vessels that carry blood away from the heart.[accessedResource: ZFA:0000005][accessDate: 05-04-2011]
arterial system[accessedResource: TAO:0000005][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001637 label: artery
1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood. n2: A structure in an invertebrate animal functionally analogous to the vertebrate heart.
1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood.n2: A structure in an invertebrate animal functionally analogous to the vertebrate heart.
1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood.n2: A structure in an invertebrate animal functionally analogous to the vertebrate heart.[accessedResource: BTO:0000562][accessDate: 05-04-2011]
Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.
Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[accessedResource: TAO:0000114][accessDate: 05-04-2011]
Blood pumping organ composed of four components: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.
Blood pumping organ composed of four components: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[accessedResource: ZFA:0000114][accessDate: 05-04-2011]
Organ with cavitated organ parts, which is continuous with the systemic and pulmonary arterial and venous trees. Examples: There is only one heart.
adult heart[accessedResource: FBbt:00003154][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000948 label: heart
Any of the tubular branching vessels that carry blood from the capillaries toward the heart.[accessedResource: BTO:0000234][accessDate: 05-04-2011]
Subdivision of venous tree (organ) which consists of branching sets of tubes (venous trunks) that form a tree; together with other venous trees (organ part), it constitutes a venous tree (organ). Examples: subclavian venous tree, jugular tree, extrahepatic portal tree, common iliac venous tree.
Venous subtree[accessedResource: FMAID:50723][accessDate: 05-04-2011]
Venous tree organ part[accessedResource: FMAID:50723][accessDate: 05-04-2011]
Venous vessel[accessedResource: FMAID:50723][accessDate: 05-04-2011]
Vessels that carry blood to the heart.[accessedResource: ZFA:0000082][accessDate: 05-04-2011]
venous system[accessedResource: MAT:0000037][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001638 Label : vein
Any of the vessels through which blood circulates in the body.
Any of the vessels through which blood circulates in the body.[accessedResource: BTO:0001102][accessDate: 05-04-2011]
blood vasculature[accessedResource: TAO:0001079][accessDate: 05-04-2011]
blood vessels[accessedResource: TAO:0001079][accessDate: 05-04-2011]
circulatory system[accessedResource: TAO:0001079][accessDate: 05-04-2011]
vasculature[accessedResource: MAT:0000393][accessDate: 05-04-2011]
vessel[accessedResource: MAT:0000393][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001981 label: blood vessel
A key artery located in the front of the neck that carries blood from the heart to the brain. Cholesterol plaques on the inner wall of the carotid artery can lead to stroke.
A key artery located in the front of the neck that carries blood from the heart to the brain. Cholesterol plaques on the inner wall of the carotid artery can lead to stroke.[accessedResource: BTO:0000168][accessDate: 05-04-2011]
Arteries, Carotid[accessedResource: MSH:D002339][accessDate: 05-04-2011]
Arteries, Common Carotid[accessedResource: MSH:D017536][accessDate: 05-04-2011]
Artery originating at the junction of the first two aortic arches and supplying the anterior brain.
Artery originating at the junction of the first two aortic arches and supplying the anterior brain. Kimmel et al, 1995.
Artery originating at the junction of the first two aortic arches and supplying the anterior brain. Kimmel et al, 1995.[accessedResource: TAO:0000097][accessDate: 05-04-2011]
Artery originating at the junction of the first two aortic arches and supplying the anterior brain.[accessedResource: ZFA:0000097][accessDate: 05-04-2011]
Artery, Carotid[accessedResource: MSH:D002339][accessDate: 05-04-2011]
Artery, Common Carotid[accessedResource: MSH:D017536][accessDate: 05-04-2011]
Carotid Arteries, Common[accessedResource: MSH:D017536][accessDate: 05-04-2011]
Carotid Arteries[accessedResource: MSH:D002339][accessDate: 05-04-2011]
Carotid Artery, Common[accessedResource: MSH:D017536][accessDate: 05-04-2011]
Common Carotid Arteries[accessedResource: MSH:D017536][accessDate: 05-04-2011]
Common carotid artery[accessedResource: FMAID:3939][accessDate: 05-04-2011]
Either of the two principal arteries on both sides of the neck that supply blood to the head and neck; each divides into two branches, the internal carotid artery and the external carotid artery.
Either of the two principal arteries on both sides of the neck that supply blood to the head and neck; each divides into two branches, the internal carotid artery and the external carotid artery.[accessedResource: MSH:D002339][accessDate: 05-04-2011]
The two principal arteries supplying the structures of the head and neck. They ascend in the neck, one on each side, and at the level of the upper border of the thyroid cartilage, each divides into two branches, the external (CAROTID ARTERY, EXTERNAL) and internal (CAROTID ARTERY, INTERNAL) carotid arteries.
The two principal arteries supplying the structures of the head and neck. They ascend in the neck, one on each side, and at the level of the upper border of the thyroid cartilage, each divides into two branches, the external (CAROTID ARTERY, EXTERNAL) and internal (CAROTID ARTERY, INTERNAL) carotid arteries.[accessedResource: MSH:D017536][accessDate: 05-04-2011]
Trunk of common carotid tree[accessedResource: FMAID:3939][accessDate: 05-04-2011]
internal carotid artery[accessedResource: TAO:0000097][accessDate: 05-04-2011]
Heart muscle[accessedResource: FMAID:9462][accessDate: 05-04-2011]
Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart.
Muscle of heart[accessedResource: FMAID:9462][accessDate: 05-04-2011]
The middle and thickest layer of the heart wall, composed of cardiac muscle.
The middle and thickest layer of the heart wall, composed of cardiac muscle.[accessedResource: BTO:0000901][accessDate: 05-04-2011]
The principal muscle tissue of the vertebrate heart made up of striated fibers that appear to be separated from each other under the electron microscope but that function in long-term rhythmic contraction as if in protoplasmic continuity.
The principal muscle tissue of the vertebrate heart made up of striated fibers that appear to be separated from each other under the electron microscope but that function in long-term rhythmic contraction as if in protoplasmic continuity.[accessedResource: BTO:0000199][accessDate: 05-04-2011]
cardiac muscle[accessedResource: MAT:0000453][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002349 label: myocardium
1: The conical sac of serous membrane that encloses the heart and the roots of the great blood vessels of vertebrates.n2: A cavity or space that contains the heart of an invertebrate and in arthropods is a part of the hemocoel.
1: The conical sac of serous membrane that encloses the heart and the roots of the great blood vessels of vertebrates.n2: A cavity or space that contains the heart of an invertebrate and in arthropods is a part of the hemocoel.[accessedResource: BTO:0000717][accessDate: 05-04-2011]
Organ cluster which has as its parts the fibrous pericardium and the pericardial sac.
pericardial sac[accessedResource: ZFA:0000054][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002407 label: pericardium
A thin serous membrane lining the cavities of the heart.
A thin serous membrane lining the cavities of the heart.[accessedResource: BTO:0000387][accessDate: 05-04-2011]
Layer that lines the lumen of the heart.
Layer that lines the lumen of the heart.[accessedResource: ZFA:0001320][accessDate: 05-04-2011]
Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber.
Use http://purl.obolibrary.org/obo/UBERON_0002165 label: endocardium
Oral part of face[accessedResource: FMAID:49184][accessDate: 05-04-2011]
Oral region[accessedResource: FMAID:49184][accessDate: 05-04-2011]
The anterior opening of the stomodeum located between the cibarium and pharynx; not to be confused with the secondary mouth (anterior opening of the cibarium) or the tertiary mouth (anterior opening of the food meatus).
The anterior opening of the stomodeum located between the cibarium and pharynx; not to be confused with the secondary mouth (anterior opening of the cibarium) or the tertiary mouth (anterior opening of the food meatus).[accessedResource: TGMA:0000131][accessDate: 05-04-2011]
The natural opening through which food passes into the body of an animal and which in vertebrates is typically bounded externally by the lips and internally by the pharynx and encloses the tongue, gums, and teeth.
The natural opening through which food passes into the body of an animal and which in vertebrates is typically bounded externally by the lips and internally by the pharynx and encloses the tongue, gums, and teeth.[accessedResource: BTO:0001090][accessDate: 05-04-2011]
The opening of the adult alimentary canal in the tip of the labrum.
The opening of the adult alimentary canal in the tip of the labrum.[accessedResource: FBbt:00003126][accessDate: 05-04-2011]
adult mouth[accessedResource: TGMA:0000131][accessDate: 05-04-2011]
mouth[accessedResource: MAT:0000038][accessDate: 05-04-2011]
oral cavity[accessedResource: MAT:0000038][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000165 label: mouth
The organ of hearing.[accessedResource: BTO:0000368][accessDate: 05-04-2011]
auditory apparatus[accessedResource: MAT:0000138][accessDate: 05-04-2011]
vestibuloauditory system[accessedResource: TAO:0001138][accessDate: 05-04-2011]
A cavitated compound organ that transduces light waves into neural signals.
A cavitated compound organ that transduces light waves into neural signals.[accessedResource: TAO:0000107][accessDate: 05-04-2011]
A light-perceptive organ consisting of an aggregation of optic elements (ommatidia) generally located on each side of the head; the cuticular part (cornea) consists of several hundred circular corneal facets (lenses); bounded by the ocular sclerite.
A light-perceptive organ consisting of an aggregation of optic elements (ommatidia) generally located on each side of the head; the cuticular part (cornea) consists of several hundred circular corneal facets (lenses); bounded by the ocular sclerite.[accessedResource: TGMA:0000024][accessDate: 05-04-2011]
An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.
An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.[accessedResource: BTO:0000439][accessDate: 05-04-2011]
An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.n2: All the visible structures within and surrounding the orbit and including eyelids, eyelashes, and eyebrows.
Cavitated compound organ that consists of the neural retina, lens, cornea and iris and is the sensory apparatus of the visual system.
Cavitated compound organ that consists of the neural retina, lens, cornea and iris and is the sensory apparatus of the visual system.[accessedResource: ZFA:0000107][accessDate: 05-04-2011]
Orbital region[accessedResource: FMAID:54448][accessDate: 05-04-2011]
The compound eye is a light sensing organ composed of ommatidia.
The compound eye is a light sensing organ composed of ommatidia.[accessedResource: FBbt:00004508][accessDate: 05-04-2011]
adult compound eye[accessedResource: MAT:0000140][accessDate: 05-04-2011]
eye[accessedResource: BTO:0000439][accessDate: 05-04-2011]
eyeball[accessedResource: TAO:0000107][accessDate: 05-04-2011]
eyes[accessedResource: ZFA:0000107][accessDate: 05-04-2011]
visual system[accessedResource: TAO:0001127][accessDate: 05-04-2011]
visual_system[accessedResource: MAT:0000140][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000970 label: eye
*Subdivision of face which consists of the nasal skeleton, nasal septum and nasal cavity.
1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.n1b: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2: The vertebrate olfactory organ.
1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.n1b: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2: The vertebrate olfactory organ.[accessedResource: BTO:0000840][accessDate: 05-04-2011]
1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.nb: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2. The vertebrate olfactory organ.
Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception (GO:0050907).
Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception (GO:0050907).[accessedResource: FBbt:00005157][accessDate: 05-04-2011]
Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception (GO:0050907)'.
Nose[accessedResource: FMAID:46472][accessDate: 05-04-2011]
chemosensory sensory organ[accessedResource: FBbt:00005157][accessDate: 05-04-2011]
olfactory system[accessedResource: TAO:0001149][accessDate: 05-04-2011]
Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912).
Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912).[accessedResource: FBbt:00005159][accessDate: 05-04-2011]
Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'.
Gustatory organ system[accessedResource: FMAID:7194][accessDate: 05-04-2011]
gustatory sensory organ[accessedResource: FBbt:00005159][accessDate: 05-04-2011]
gustatory system[accessedResource: TAO:0001101][accessDate: 05-04-2011]
1: The skull of a vertebrate.n2: The portion of the skull enclosing the brain; the braincase.
1: The skull of a vertebrate.n2: The portion of the skull enclosing the brain; the braincase.[accessedResource: BTO:0001295][accessDate: 05-04-2011]
Skeletal system that is part of the head, including the splanchnocranium, chondrocranium, and dermatocranium.
Skeletal system that is part of the head, including the splanchnocranium, chondrocranium, and dermatocranium.[accessedResource: ZFA:0000737][accessDate: 05-04-2011]
Skeletal system which is part of the skull, including the splanchnocranium, chondrocranium, and dermatocranium.
Skeletal system which is part of the skull, including the splanchnocranium, chondrocranium, and dermatocranium.[accessedResource: TAO:0000737][accessDate: 05-04-2011]
The sclerotized skull-like part of the head.
The sclerotized skull-like part of the head.[accessedResource: TGMA:0000003][accessDate: 05-04-2011]
adult cranium[accessedResource: TGMA:0000003][accessDate: 05-04-2011]
cranial skeleton[accessedResource: TAO:0000737][accessDate: 05-04-2011]
skeletal system of head[accessedResource: MAT:0000340][accessDate: 05-04-2011]
skull[accessedResource: TAO:0000737][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003128 label: cranium
Inner layer of eyeball[accessedResource: FMAID:58301][accessDate: 05-04-2011]
Layer of wall of eyeball which is continuous with optic nerve.
Multi-tissue structure that contains the retinal neural layer and the retinal pigmented epithelium, and develops from the optic cup.
Multi-tissue structure that contains the retinal neural layer and the retinal pigmented epithelium, and develops from the optic cup.[accessedResource: ZFA:0000152][accessDate: 05-04-2011]
The array of photoreceptors & the cells that support them in a compound eye.
The array of photoreceptors and the cells that support them in a compound eye.
The array of photoreceptors and the cells that support them in a compound eye.[accessedResource: FBbt:00004200][accessDate: 05-04-2011]
The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995.
The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995.[accessedResource: TAO:0000152][accessDate: 05-04-2011]
The sensory membrane that lines the eye, is composed of several layers including one containing the rods and cones, and functions as the immediate instrument of vision by receiving the image formed by the lens and converting it into chemical and nervous signals which reach the brain by way of the optic nerve.
The sensory membrane that lines the eye, is composed of several layers including one containing the rods and cones, and functions as the immediate instrument of vision by receiving the image formed by the lens and converting it into chemical and nervous signals which reach the brain by way of the optic nerve.[accessedResource: BTO:0001175][accessDate: 05-04-2011]
Tunica interna of eyeball[accessedResource: FMAID:58301][accessDate: 05-04-2011]
retina[accessedResource: ZFA:0000152][accessDate: 05-04-2011]
retinas[accessedResource: ZFA:0000152][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000966 label: retina
A fleshy movable process of the floor of the mouths of most vertebrates that bears sensory end organs and small glands and functions especially in taking and swallowing food and in humans as a speech organ.
A fleshy movable process of the floor of the mouths of most vertebrates that bears sensory end organs and small glands and functions especially in taking and swallowing food and in humans as a speech organ.[accessedResource: BTO:0001385][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001723 label: tongue
Bowel[accessedResource: FMAID:7199][accessDate: 05-04-2011]
The fluid-feeding habit of adult mosquitoes is reflected in the structure and ultrastructure of the alimentary canal.
The fluid-feeding habit of adult mosquitoes is reflected in the structure and ultrastructure of the alimentary canal.[accessedResource: TGMA:0001819][accessDate: 05-04-2011]
The tubular part of the alimentary canal that extends from the stomach to the anus.
The tubular part of the alimentary canal that extends from the stomach to the anus.[accessedResource: BTO:0000648][accessDate: 05-04-2011]
adult alimentary canal[accessedResource: MAT:0000043][accessDate: 05-04-2011]
gut[accessedResource: MAT:0000043][accessDate: 05-04-2011]
intestines[accessedResource: MAT:0000043][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000160 label: intestine
A muscular tube that in humans is about nine inches (23 centimeters) long and passes from the pharynx down the neck between the trachea and the spinal column and behind the left bronchus where it pierces the diaphragm slightly to the left of the middle line and joins the cardiac end of the stomach.
A muscular tube that in humans is about nine inches (23 centimeters) long and passes from the pharynx down the neck between the trachea and the spinal column and behind the left bronchus where it pierces the diaphragm slightly to the left of the middle line and joins the cardiac end of the stomach.[accessedResource: BTO:0000959][accessDate: 05-04-2011]
Gullet[accessedResource: FMAID:7131][accessDate: 05-04-2011]
Organ with organ cavity which is continuous superiorly with the pharynx and inferiorly with the stomach. Examples: There is only one esophagus.
The part of the stomodeum following the pharynx.
The part of the stomodeum following the pharynx.[accessedResource: TGMA:0000134][accessDate: 05-04-2011]
adult oesophagus[accessedResource: TGMA:0000134][accessDate: 05-04-2011]
oesophagus[accessedResource: ZFA:0000204][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001043 label: esophagus
Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.
Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.[accessedResource: TAO:0000056][accessDate: 05-04-2011]
The part of the stomodeum between the mouth and the oesophagus.
The part of the stomodeum between the mouth and the oesophagus.[accessedResource: TGMA:0000132][accessDate: 05-04-2011]
The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines.
The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines.[accessedResource: BTO:0001049][accessDate: 05-04-2011]
adult pharynx[accessedResource: TGMA:0000132][accessDate: 05-04-2011]
pharynx[accessedResource: BTO:0001049][accessDate: 05-04-2011]
A dilatation of the alimentary canal of a vertebrate communicating anteriorly with the esophagus and posteriorly with the duodenum.
A dilatation of the alimentary canal of a vertebrate communicating anteriorly with the esophagus and posteriorly with the duodenum.[accessedResource: BTO:0001307][accessDate: 05-04-2011]
A flask-shaped posterior region, which retains the blood meal, and which in culicines is capable of much distension.
A flask-shaped posterior region, which retains the blood meal, and which in culicines is capable of much distension.[accessedResource: TGMA:0001041][accessDate: 05-04-2011]
Organ with organ cavity which is continuous proximally with the esophagus and distally with the small intestine. Examples: There is only one stomach.
adult stomach[accessedResource: TGMA:0001041][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000945 label: stomach
Heterogeneous cluster that connects the pharynx to the tracheobronchial tree. Examples: There is only one larynx.
The modified upper part of the trachea of air-breathing vertebrates that in humans, most other mammals, and a few lower forms contains the vocal cords.
The modified upper part of the trachea of air-breathing vertebrates that in humans, most other mammals, and a few lower forms contains the vocal cords.[accessedResource: BTO:0001208][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001737 label: larynx
1: One of the hard bony appendages that are borne on the jaws or in many of the lower vertebrates on other bones in the walls of the mouth or pharynx and serve especially for the prehension and mastication of food and as weapons of offense and defense.n2: Any of various usually hard and sharp processes especially about the mouth of an invertebrate.
1: One of the hard bony appendages that are borne on the jaws or in many of the lower vertebrates on other bones in the walls of the mouth or pharynx and serve especially for the prehension and mastication of food and as weapons of offense and defense.n2: Any of various usually hard and sharp processes especially about the mouth of an invertebrate.[accessedResource: BTO:0000397][accessDate: 05-04-2011]
Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar.
dental plate[accessedResource: ZFA:0000644][accessDate: 05-04-2011]
dental plates[accessedResource: ZFA:0000644][accessDate: 05-04-2011]
Large bowel[accessedResource: FMAID:7201][accessDate: 05-04-2011]
Organ with organ cavity which is continuous proximally with the small intestine and distally with the anal canal. Examples: There is only large intestine.
The hindgut of adult mosquito consists of pyloric chamber, anterior intestine, rectum, anal canal and anus.
The hindgut of adult mosquito consists of pyloric chamber, anterior intestine, rectum, anal canal and anus.[accessedResource: TGMA:0001020][accessDate: 05-04-2011]
The more terminal division of the vertebrate intestine that is wider and shorter than the small intestine, typically divided into cecum, colon, and rectum, and concerned especially with the resorption of water and the formation of feces.
The more terminal division of the vertebrate intestine that is wider and shorter than the small intestine, typically divided into cecum, colon, and rectum, and concerned especially with the resorption of water and the formation of feces.[accessedResource: BTO:0000706][accessDate: 05-04-2011]
adult hindgut[accessedResource: TGMA:0001020][accessDate: 05-04-2011]
hindgut[accessedResource: MAT:0000046][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000059 label: large intestine
Rectum[accessedResource: FMAID:14544][accessDate: 05-04-2011]
The anterior intestine is a rather narrow looped tube of the adult hindgut.
The anterior intestine is a rather narrow looped tube of the adult hindgut.[accessedResource: TGMA:0001024][accessDate: 05-04-2011]
The part of the intestine that lies between the stomach and colon, consists of duodenum, jejunum, and ileum, secretes digestive enzymes, and is the chief site of the absorption of digested nutrients. The proximal portion of the intestine.
The part of the intestine that lies between the stomach and colon, consists of duodenum, jejunum, and ileum, secretes digestive enzymes, and is the chief site of the absorption of digested nutrients. The proximal portion of the intestine.[accessedResource: BTO:0000651][accessDate: 05-04-2011]
The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity.
The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity.[accessedResource: ZFA:0001323][accessDate: 05-04-2011]
adult anterior intestine[accessedResource: TGMA:0001024][accessDate: 05-04-2011]
anterior intestine[accessedResource: MAT:0000047][accessDate: 05-04-2011]
mid intestine[accessedResource: ZFA:0001323][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002108 label: small intestine
Organ part which is continuous with the cecum proximally and the transverse colon distally.
The portion of the colon between the cecum and the right colic flexure.
The portion of the colon between the cecum and the right colic flexure.[accessedResource: BTO:0000270][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001156 label: ascending colon
colon ascendens[accessedResource: BTO:0000270][accessDate: 05-04-2011]
The portion of the colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure.
The portion of the colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure.[accessedResource: BTO:0000272][accessDate: 05-04-2011]
colon transversum[accessedResource: BTO:0000272][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001157 label: transverse colon
The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon.
The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon.[accessedResource: BTO:0000641][accessDate: 05-04-2011]
colon descendens[accessedResource: BTO:0000641][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001158 label: descending colon
The S-shaped part of the colon which lies in the pelvis, extending from the pelvic brim to the third segment of the sacrum, and continuous above with the descending (or iliac) colon and below with the rectum.
The S-shaped part of the colon which lies in the pelvis, extending from the pelvic brim to the third segment of the sacrum, and continuous above with the descending (or iliac) colon and below with the rectum.[accessedResource: BTO:0000645][accessDate: 05-04-2011]
colon sigmoideum[accessedResource: BTO:0000645][accessDate: 05-04-2011]
http://purl.obolibrary.org/obo/UBERON_0001159 label: sigmoid colon
Anal canal viewed anatomically[accessedResource: FMAID:15703][accessDate: 05-04-2011]
Anal canal[accessedResource: FMAID:15703][accessDate: 05-04-2011]
Anatomical anal canal[accessedResource: FMAID:15703][accessDate: 05-04-2011]
Organ with organ cavity which is continuous proximally with the rectum and distally terminates with the anus. Examples: There is only one anal canal.
The anus is situated in a small area of membrane between the bases of the cerci.
The anus is situated in a small area of membrane between the bases of the cerci.[accessedResource: TGMA:0001279][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001353 label: anal region
anal pad[accessedResource: FBbt:00005785][accessDate: 05-04-2011]
anus[accessedResource: TGMA:0001279][accessDate: 05-04-2011]
cloacal chamber[accessedResource: ZFA:0000330][accessDate: 05-04-2011]
Posterior-most portion of the alimentary canal, terminating in the anus.
Posterior-most portion of the alimentary canal, terminating in the anus.[accessedResource: FBbt:00005756][accessDate: 05-04-2011]
The bladder-like rectum is bounded by a layer of circular muscle fibres and by sparser longitudinal fibres.
The bladder-like rectum is bounded by a layer of circular muscle fibres and by sparser longitudinal fibres.[accessedResource: TGMA:0001028][accessDate: 05-04-2011]
The terminal part of the intestine from the sigmoid flexure to the anus.
The terminal part of the intestine from the sigmoid flexure to the anus.[accessedResource: BTO:0001158][accessDate: 05-04-2011]
adult rectum[accessedResource: TGMA:0001028][accessDate: 05-04-2011]
rectal sac[accessedResource: MAT:0000050][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001052 label: rectum
A narrow blind tube usually about three or four inches (7.6 to 10.2 centimeters) long that extends from the cecum in the lower right-hand part of the abdomen, has much lymphoid wall tissue, normally communicates with the cavity of the cecum, and represents an atrophied terminal part of the cecum.
A narrow blind tube usually about three or four inches (7.6 to 10.2 centimeters) long that extends from the cecum in the lower right-hand part of the abdomen, has much lymphoid wall tissue, normally communicates with the cavity of the cecum, and represents an atrophied terminal part of the cecum.[accessedResource: BTO:0000084][accessDate: 05-04-2011]
Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix.
vermiform appendix[accessedResource: BTO:0000084][accessDate: 05-04-2011]
Cecum[accessedResource: FMAID:14541][accessDate: 05-04-2011]
Intestinum crassum caecum[accessedResource: FMAID:14541][accessDate: 05-04-2011]
The first part of the large intestine, forming a dilated pouch into which open the ileum, colon, and appendix vermiformis.
The first part of the large intestine, forming a dilated pouch into which open the ileum, colon, and appendix vermiformis.[accessedResource: BTO:0000166][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001153 label: caecum
The first part of the small intestine extending from the pylorus to the jejunum.
The first part of the small intestine extending from the pylorus to the jejunum.[accessedResource: BTO:0000365][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002114 label: duodenum
Medulla (Glandula suprarenalis)[accessedResource: FMAID:15633][accessDate: 05-04-2011]
Medulla of adrenal gland[accessedResource: FMAID:15633][accessDate: 05-04-2011]
Medulla of suprarenal gland[accessedResource: FMAID:15633][accessDate: 05-04-2011]
Suprarenal medulla[accessedResource: FMAID:15633][accessDate: 05-04-2011]
The inner, reddish-brown portion of the adrenal glands that synthesizes, stores, and releases epinephrine and norepinephrine.
The inner, reddish-brown portion of the adrenal glands that synthesizes, stores, and releases epinephrine and norepinephrine.[accessedResource: BTO:0000049][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001236 label: adrenal medulla
A small, pear-shaped muscular sac, located under the right lobe of the liver, in which bile secreted by the liver is stored until needed by the body for digestion.
A small, pear-shaped muscular sac, located under the right lobe of the liver, in which bile secreted by the liver is stored until needed by the body for digestion.[accessedResource: BTO:0000493][accessDate: 05-04-2011]
Gallbladder[accessedResource: FMAID:7202][accessDate: 05-04-2011]
Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder. Examples: There is only one gallbladder.
Use http://purl.obolibrary.org/obo/UBERON_0002110 label: gallbladder
Lactiferous gland[accessedResource: FMAID:62088][accessDate: 05-04-2011]
Lobe of breast[accessedResource: FMAID:62088][accessDate: 05-04-2011]
Lobe of mammary gland[accessedResource: FMAID:62088][accessDate: 05-04-2011]
Lobular organ which consist of a lactiferous duct tree and the set of lactiferous acini that are connected to duct tree. Examples: There are variable numbers of lactiferous duct trees.
The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland.
The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland.[accessedResource: BTO:0000817][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001911 label: mammary gland
A large lobulated gland of vertebrates that secretes digestive enzymes and the hormones insulin and glucagon.
A large lobulated gland of vertebrates that secretes digestive enzymes and the hormones insulin and glucagon.[accessedResource: BTO:0000988][accessDate: 05-04-2011]
Lobular organ the parenchyma of which consists of glandular acini which communicate via a duct system with the duodenum. Examples: There is only one pancreas.
Use http://purl.obolibrary.org/obo/UBERON_0001264 label: pancreas
Irregular microscopic structures scattered throughout the pancreas and comprising its endocrine part (the endocrine pancreas). In humans, they are composed of at least four types of cells: the alpha cells, which secrete glucagon; the beta cells, which are the most abundant and secrete insulin; the delta cells, which secrete somatostatin; and the PP cells, which secrete pancreatic polypeptide. Degeneration of the beta cells, whose secretion (insulin) is important in carbohydrate metabolism, is the major cause of type I diabetes mellitus.
Irregular microscopic structures scattered throughout the pancreas and comprising its endocrine part (the endocrine pancreas). In humans, they are composed of at least four types of cells: the alpha cells, which secrete glucagon; the beta cells, which are the most abundant and secrete insulin; the delta cells, which secrete somatostatin; and the PP cells, which secrete pancreatic polypeptide. Degeneration of the beta cells, whose secretion (insulin) is important in carbohydrate metabolism, is the major cause of type I diabetes mellitus.[accessedResource: BTO:0000991][accessDate: 05-04-2011]
pancreatic islet[accessedResource: BTO:0000991][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000006 label: islet of Langerhans
A compound organ which is an endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin.
A compound organ which is an endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin.[accessedResource: ZFA:0000118][accessDate: 05-04-2011]
A small oval endocrine organ that is attached to the infundibulum of the brain, consists of an epithelial anterior lobe joined by an intermediate part to a posterior lobe of nervous origin, and produces various internal secretions directly or indirectly impinging on most basic body functions.
A small oval endocrine organ that is attached to the infundibulum of the brain, consists of an epithelial anterior lobe joined by an intermediate part to a posterior lobe of nervous origin, and produces various internal secretions directly or indirectly impinging on most basic body functions.[accessedResource: BTO:0001073][accessDate: 05-04-2011]
Hypophysis cerebri[accessedResource: FMAID:13889][accessDate: 05-04-2011]
Pituitary gland[accessedResource: FMAID:13889][accessDate: 05-04-2011]
hypophysis[accessedResource: BTO:0001073][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000007 label: pituitary gland
A firm partly muscular partly glandular body that is situated about the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.
A firm partly muscular partly glandular body that is situated about the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.[accessedResource: BTO:0001129][accessDate: 05-04-2011]
Lobular organ the parenchyma of which has as its parts glandular acini which are continuous with the prostatic part of the urethra. Examples: There is only one prostate.
prostate gland[accessedResource: BTO:0001129][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002367 label: prostate gland
A pair of salivary glands is present in the thorax, just above the forelegs and flanking the oesophagus. In both sexes of most species each gland normally consists of three lobes, two lateral and one median.
A pair of salivary glands is present in the thorax, just above the forelegs and flanking the oesophagus. In both sexes of most species each gland normally consists of three lobes, two lateral and one median.[accessedResource: TGMA:0001804][accessDate: 05-04-2011]
Lobular organ the parenchyma of which consists of glandular acini which communicate the oral cavity. Examples: parotid gland, sublingual gland, lingual salivary gland.
Paired secretory organ connected to the atrium via the salivary duct. It is essentially composed of two cell types: cuboidal epithelial duct cells that form tubes connecting the secretory cells to the larval mouth; and secretory cells that synthesize and secrete high levels of protein (Andrew et al., 2000).
Paired secretory organ connected to the atrium via the salivary duct. It is essentially composed of two cell types: cuboidal epithelial duct cells that form tubes connecting the secretory cells to the larval mouth; and secretory cells that synthesize and secrete high levels of protein (Andrew et al., 2000).[accessedResource: FBbt:00005382][accessDate: 05-04-2011]
The glands of the oral cavity whose combined secretion constitutes the saliva.
The glands of the oral cavity whose combined secretion constitutes the saliva.[accessedResource: BTO:0001203][accessDate: 05-04-2011]
adult salivary gland[accessedResource: TGMA:0001804][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001044 label: salivary gland
A glandular structure of largely lymphoid tissue that functions especially in the development of the body's immune system, is present in the young of most vertebrates typically in the upper anterior chest or at the base of the neck, and tends to atrophy in the adult.
A glandular structure of largely lymphoid tissue that functions especially in the development of the body's immune system, is present in the young of most vertebrates typically in the upper anterior chest or at the base of the neck, and tends to atrophy in the adult.[accessedResource: BTO:0001374][accessDate: 05-04-2011]
Thymus gland[accessedResource: FMAID:9607][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002370 label: thymus
A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin.
A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin.[accessedResource: BTO:0001379][accessDate: 05-04-2011]
Lobular organ the parenchyma of which consists of ductless, glandular follicles filled with colloid. Examples: thyroid gland proper, accessory thyroid gland, lingual thyroid gland.
Portion of tissue formed form thyroid follicle cells that forms along the midline in pharyngeal mesenchyme. The follicles are not encapsulated by connective tissue.
Portion of tissue formed form thyroid follicle cells that forms along the midline in pharyngeal mesenchyme. The follicles are not encapsulated by connective tissue.[accessedResource: ZFA:0001072][accessDate: 05-04-2011]
Thyroid gland[accessedResource: FMAID:9603][accessDate: 05-04-2011]
thyroid follicle[accessedResource: ZFA:0001072][accessDate: 05-04-2011]
thyroid follicles[accessedResource: ZFA:0001072][accessDate: 05-04-2011]
thyroid primordium[accessedResource: TAO:0001081][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002046 label: thyroid gland
A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland.
A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995.
A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995.[accessedResource: TAO:0000026][accessDate: 05-04-2011]
A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland.[accessedResource: ZFA:0000026][accessDate: 05-04-2011]
A transversely oriented set of cells located deep to the enveloping layer on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland; The fish hatching gland is a unicellular holocrine gland. Although it has recently been found that the precursors or immature forms of the gland cells considerably migrate in the embryonic body during development (see later), the final location of the hatching gland cells in fish is generally restricted to anterior and/or dorsal regions of a well-grown prehatching embryo. In medaka, the final location is somewhat unique: The giant gland cells are mostly localized in the inner surface of the buccal (or pharyngeal) cavity.
A transversely oriented set of cells located deep to the enveloping layer on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland; The fish hatching gland is a unicellular holocrine gland. Although it has recently been found that the precursors or immature forms of the gland cells considerably migrate in the embryonic body during development (see later), the final location of the hatching gland cells in fish is generally restricted to anterior and/or dorsal regions of a well-grown prehatching embryo. In medaka, the final location is somewhat unique: The giant gland cells are mostly localized in the inner surface of the buccal (or pharyngeal) cavity.[accessedResource: BTO:0000558][accessDate: 05-04-2011]
hgg[accessedResource: TAO:0000026][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002538 label: hatching gland
A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system.[accessedResource: BTO:0002106][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001053 label: neurohemal organ
A small, cone-shaped organ in the brain of most vertebrates that secretes the hormone melatonin.
A small, cone-shaped organ in the brain of most vertebrates that secretes the hormone melatonin.[accessedResource: BTO:0001067][accessDate: 05-04-2011]
Circumventricular organ of neuraxis which is shaped like a pine cone and attached on the midline near the posterior and habenular commissures of the epithalamus.
Pineal body[accessedResource: FMAID:62033][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001905 label:pineal body
Any of the three membranes that envelop the brain and spinal cord.
Any of the three membranes that envelop the brain and spinal cord.[accessedResource: BTO:0000144][accessDate: 05-04-2011]
meninx[accessedResource: BTO:0000144][accessDate: 05-04-2011]
Medulla ossea[accessedResource: FMAID:9608][accessDate: 05-04-2011]
The soft, fatty, vascular tissue that fills most bone cavities and is the source of red blood cells and many white blood cells.
The soft, fatty, vascular tissue that fills most bone cavities and is the source of red blood cells and many white blood cells.[accessedResource: BTO:0000141][accessDate: 05-04-2011]
kidney marrow[accessedResource: TAO:0000669][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002371 label: bone marrow
A highly vascular ductless organ that is located in the left abdominal region near the stomach or intestine of most vertebrates and is concerned with final destruction of red blood cells, filtration and storage of blood, and production of lymphocytes.
A highly vascular ductless organ that is located in the left abdominal region near the stomach or intestine of most vertebrates and is concerned with final destruction of red blood cells, filtration and storage of blood, and production of lymphocytes.[accessedResource: BTO:0001281][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002106 label: spleen
Lymph node[accessedResource: FMAID:5034][accessDate: 05-04-2011]
A clear, watery, sometimes faintly yellowish fluid derived from body tissues that contains white blood cells and circulates throughout the lymphatic system, returning to the venous bloodstream through the thoracic duct. Lymph acts to remove bacteria and certain proteins from the tissues, transport fat from the small intestine, and supply mature lymphocytes to the blood.
A clear, watery, sometimes faintly yellowish fluid derived from body tissues that contains white blood cells and circulates throughout the lymphatic system, returning to the venous bloodstream through the thoracic duct. Lymph acts to remove bacteria and certain proteins from the tissues, transport fat from the small intestine, and supply mature lymphocytes to the blood.[accessedResource: BTO:0000855][accessDate: 05-04-2011]
Transudate contained in the lumen of lymphatic vessel.
Use http://purl.obolibrary.org/obo/UBERON_0002391 label: lymph
Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph.
Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph.[accessedResource: BTO:0000784][accessDate: 05-04-2011]
Lymph Nodes[accessedResource: MSH:D008198][accessDate: 05-04-2011]
Node, Lymph[accessedResource: MSH:D008198][accessDate: 05-04-2011]
Nodes, Lymph[accessedResource: MSH:D008198][accessDate: 05-04-2011]
They are oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system.
They are oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system.[accessedResource: MSH:D008198][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000029 label: lymph node
A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.
A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.[accessedResource: TAO:0005105][accessDate: 05-04-2011]
A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure.
A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure.[accessedResource: BTO:0000752][accessDate: 05-04-2011]
Lymphatic vessel[accessedResource: FMAID:30315][accessDate: 05-04-2011]
Segment of lymphatic tree organ, the wall and lumen of which are continuous with those of the veins, directly or indirectly; together with other lymphatic vessels and lymph nodes, it constitutes the lymphatic tree organ. Examples: bronchomediastinal lymph duct, thoracic duct.
Use http://purl.obolibrary.org/obo/UBERON_0001473 label: lymphatic vessel
One of a pair of slender movable segmented sensory organs on the head of insects, myriapods, and crustaceans.
One of a pair of slender movable segmented sensory organs on the head of insects, myriapods, and crustaceans.[accessedResource: BTO:0000074][accessDate: 05-04-2011]
One of the paired anterior appendicular organs of the insect head.
One of the paired anterior appendicular organs of the insect head.[accessedResource: TGMA:0000007][accessDate: 05-04-2011]
Paired, segmented, jointed, sensory appendage attached to the anterior of the head capsule, between the eyes.
Paired, segmented, jointed, sensory appendage attached to the anterior of the head capsule, between the eyes.[accessedResource: FBbt:00004511][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000972 label: antenna
adult antenna[accessedResource: TGMA:0000007][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000087
Surface structure involved in locomotion.
Surface structure involved in locomotion.[accessedResource: TAO:0000108][accessDate: 05-04-2011]
fins[accessedResource: ZFA:0000108][accessDate: 05-04-2011]
Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with a complete set of bones of the appendicular skeleton, it is partially surrounded by skin of limb. Examples: There are only four instances, right upper and lower limbs and left upper and lower limbs.
Extremity[accessedResource: FMAID:7182][accessDate: 05-04-2011]
Limb[accessedResource: FMAID:7182][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002101 label: limb
limb sensu vertebrata[accessedResource: MAT:0000090][accessDate: 05-04-2011]
Hand[accessedResource: NIFSTD:nlx_anat_20090603][accessDate: 05-04-2011]
The generic name for hand, paw, foot etc
The generic name for hand, paw, foot etc[accessedResource: MAT:0000091][accessDate: 05-04-2011]
The middle part of the limb (e.g. between the elbow and wrist)
The middle part of the limb (e.g. between the elbow and wrist)[accessedResource: MAT:0000092][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002471 Label: zeugopod
The proximal part of the limb (e.g. between shoulder and elbow)
The proximal part of the limb (e.g. between shoulder and elbow)[accessedResource: MAT:0000093][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002472 label: stylopod
Use http://purl.obolibrary.org/obo/UBERON_0002544 label: digit
forelimb digit[accessedResource: MAT:0000285][accessDate: 05-04-2011]
hindlimb digit[accessedResource: MAT:0000285][accessDate: 05-04-2011]
A limb as an arm, wing, fin, or leg that is situated anteriorly.
A limb as an arm, wing, fin, or leg that is situated anteriorly.[accessedResource: BTO:0001729][accessDate: 05-04-2011]
Fore limb[accessedResource: FMAID:7183][accessDate: 05-04-2011]
Superior member[accessedResource: FMAID:7183][accessDate: 05-04-2011]
Upper extremity[accessedResource: FMAID:7183][accessDate: 05-04-2011]
Upper limb[accessedResource: FMAID:7183][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002102 label: forelimb
Either of two extremities of four-footed non-primate land animals. It usually consists of a femur, tibia and fibula, tarsals, metatarsals, and toes.
Either of two extremities of four-footed non-primate land animals. It usually consists of a femur, tibia and fibula, tarsals, metatarsals, and toes.[accessedResource: BTO:0002345][accessDate: 05-04-2011]
Hind limb[accessedResource: FMAID:7184][accessDate: 05-04-2011]
Inferior member[accessedResource: FMAID:7184][accessDate: 05-04-2011]
Lower extremity[accessedResource: FMAID:7184][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002103 label: hindlimb
lower limb[accessedResource: MAT:0000395][accessDate: 05-04-2011]
In animals, one of the paired appendages ordinarily used in locomotion and support. In insects, applied only to the three pairs of thoracic legs; in most insects, composed of the coxa, trochanter, femur, tibia, tarsus and posttarsus.
In animals, one of the paired appendages ordinarily used in locomotion and support. In insects, applied only to the three pairs of thoracic legs; in most insects, composed of the coxa, trochanter, femur, tibia, tarsus and posttarsus.[accessedResource: TGMA:0000164][accessDate: 05-04-2011]
The walking appendages of each segment of the ventral adult external thorax.
The walking appendages of each segment of the ventral adult external thorax.[accessedResource: FBbt:00004640][accessDate: 05-04-2011]
adult leg[accessedResource: TGMA:0000164][accessDate: 05-04-2011]
leg[accessedResource: FBbt:00004640][accessDate: 05-04-2011]
limb sensu invertebrata[accessedResource: MAT:0000095][accessDate: 05-04-2011]
1: One of the movable feathered or membranous paired appendages by means of which a bird, bat, or insect is able to fly; also: such an appendage even though rudimentary if possessed by an animal belonging to a group characterized by the power of flight.n2: Any of various anatomical structures especially of a flying fish or flying lemur providing means of limited flight.
1: One of the movable feathered or membranous paired appendages by means of which a bird, bat, or insect is able to fly; also: such an appendage even though rudimentary if possessed by an animal belonging to a group characterized by the power of flight.n2: Any of various anatomical structures especially of a flying fish or flying lemur providing means of limited flight.[accessedResource: BTO:0001463][accessDate: 05-04-2011]
A flight organ of the adult external thorax that is derived from a dorsal mesothoracic disc.
A flight organ of the adult external thorax that is derived from a dorsal mesothoracic disc.[accessedResource: FBbt:00004729][accessDate: 05-04-2011]
In adult pterygotous insects, one of the paired organs of flight occurring on the mesothoracic segment.
In adult pterygotous insects, one of the paired organs of flight occurring on the mesothoracic segment.[accessedResource: TGMA:0000196][accessDate: 05-04-2011]
In adult pterygotous insects, the paired organs of flight occurring on the metathoracic segment. In Diptera, the metathoracic wings are represented by the halteres.
In adult pterygotous insects, the paired organs of flight occurring on the metathoracic segment. In Diptera, the metathoracic wings are represented by the halteres.[accessedResource: TGMA:0000197][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000023 label: wing
adult mesothoracic wing[accessedResource: TGMA:0000196][accessDate: 05-04-2011]
adult metathoracic wing[accessedResource: TGMA:0000197][accessDate: 05-04-2011]
Paired dorsal 'appendage' of the adult mesothoracic segment. It is a freely movable, capitate stalk. It develops from the dorsal mesothoracic disc. It is used for flight balance.
Paired dorsal 'appendage' of the adult mesothoracic segment. It is a freely movable, capitate stalk. It develops from the dorsal mesothoracic disc. It is used for flight balance.[accessedResource: FBbt:00004783][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000987 label: haltere
1: A large very vascular glandular organ of vertebrates that secretes bile and causes important changes in many of the substances contained in the blood (as by converting sugars into glycogen which it stores up until required and by forming urea).n2: Any of various large compound glands associated with the digestive tract of invertebrate animals and probably concerned with the secretion of digestive enzymes.
1: A large very vascular glandular organ of vertebrates that secretes bile and causes important changes in many of the substances contained in the blood (as by converting sugars into glycogen which it stores up until required and by forming urea).n2: Any of various large compound glands associated with the digestive tract of invertebrate animals and probably concerned with the secretion of digestive enzymes.[accessedResource: BTO:0000759][accessDate: 05-04-2011]
Lobular organ which has as its parts lobules connected to the biliary tree. Examples: There is only one liver.
Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver
Muscle tissue that lacks cross striations, that is made up of elongated spindle-shaped cells having a central nucleus, and that is found in vertebrate visceral structures (as the stomach and bladder) as thin sheets performing functions not subject to conscious control by the mind and in all or most of the musculature of invertebrates other than arthropods.
Muscle tissue that lacks cross striations, that is made up of elongated spindle-shaped cells having a central nucleus, and that is found in vertebrate visceral structures (as the stomach and bladder) as thin sheets performing functions not subject to conscious control by the mind and in all or most of the musculature of invertebrates other than arthropods.[accessedResource: BTO:0001260][accessDate: 05-04-2011]
Visceral muscle of the adult.[accessedResource: FBbt:00003525][accessDate: 05-04-2011]
adult visceral muscle[accessedResource: FBbt:00003525][accessDate: 05-04-2011]
Any of a number of aggregations of neurons, glial cells and their processes, and surrounded by a glial cell and connective tissue sheath (plural: ganglia).
Any of a number of aggregations of neurons, glial cells and their processes, and surrounded by a glial cell and connective tissue sheath (plural: ganglia).[accessedResource: FBbt:00005137][accessDate: 05-04-2011]
Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia).
ganglion[accessedResource: FBbt:00005137][accessDate: 05-04-2011]
The outer parts of the nervous system that perform sensory and motor functions.
The outer parts of the nervous system that perform sensory and motor functions.[accessedResource: FBbt:00005098][accessDate: 05-04-2011]
The peripheral nervous system (PNS) connects the central nervous system (CNS) to sensory organs (such as the eye and ear), other organs of the body, muscles, blood vessels and glands.
The peripheral nervous system (PNS) connects the central nervous system (CNS) to sensory organs (such as the eye and ear), other organs of the body, muscles, blood vessels and glands.[accessedResource: BTO:0001028][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000010 label: peripheral nervous system
Nervous structures including ganglia outside of the central nervous system.
Nervous structures including ganglia outside of the central nervous system.[accessedResource: ZFA:0000142][accessDate: 05-04-2011]
One of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord, and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera, and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter.
One of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord, and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera, and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter.[accessedResource: BTO:0001832][accessDate: 05-04-2011]
PNS - sympathetic[accessedResource: MAT:0000100][accessDate: 05-04-2011]
Sympathetic part of autonomic division of nervous system[accessedResource: FMAID:9906][accessDate: 05-04-2011]
peripheral nervous system[accessedResource: ZFA:0000142][accessDate: 05-04-2011]
pns[accessedResource: ZFA:0000142][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000013 label: sympathetic nervous system
One of the two divisions of the vertebrate autonomic nervous sytem. Parasympathetic nerves emerge cranially as pre-ganglionic fibres from oculomotor, facial, glossopharyngeal and vagus, and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic acetylcholine receptors. The parasympathetic system innervates, for example, salivary glands, thoracic and abdominal viscera, bladder and genitalia.
One of the two divisions of the vertebrate autonomic nervous sytem. Parasympathetic nerves emerge cranially as pre-ganglionic fibres from oculomotor, facial, glossopharyngeal and vagus, and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic acetylcholine receptors. The parasympathetic system innervates, for example, salivary glands, thoracic and abdominal viscera, bladder and genitalia.[accessedResource: BTO:0001833][accessDate: 05-04-2011]
PNS - parasympathetic[accessedResource: MAT:0000101][accessDate: 05-04-2011]
Parasympathetic part of autonomic division of nervous system[accessedResource: FMAID:9907][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000011 label: parasympathetic nervous system
PNS - enteric[accessedResource: MAT:0000102][accessDate: 05-04-2011]
Two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gallbladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation.
Two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gallbladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation.[accessedResource: BTO:0002506][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002005 label: enteric nervous system
The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms).
The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms).[accessedResource: BTO:0002328][accessDate: 05-04-2011]
larval ventral ganglion[accessedResource: FBbt:00001102][accessDate: 05-04-2011]
subesophageal + T1 + T2 + T3 + A1 + A2 + A3 + A4 + A5 + A6 + A7 + A8 ganglia
vnc[accessedResource: FBbt:00001102][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000934 label: ventral nerve cord
OntologyMappingImporter following MAT:0000342
A group of nerve cell bodies located outside the central nervous system. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia.
A group of nerve cell bodies located outside the central nervous system. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia.[accessedResource: BTO:0000497][accessDate: 05-04-2011]
Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)
Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)[accessedResource: TAO:0000190][accessDate: 05-04-2011]
ganglia[accessedResource: TAO:0000190][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000045 label: ganglion
DRG[accessedResource: NIFSTD:birnlex_2596][accessDate: 05-04-2011]
Ganglion spinalis[accessedResource: FMAID:5888][accessDate: 05-04-2011]
Spinal ganglion[accessedResource: FMAID:5888][accessDate: 05-04-2011]
Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves.
Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves.[accessedResource: TAO:0000200][accessDate: 05-04-2011]
dorsal root ganglia[accessedResource: ZFA:0000200][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000044 label: dorsal root ganglion
Ganglion which is located in the trunk.[accessedResource: TAO:0001573][accessDate: 05-04-2011]
trunk ganglion[accessedResource: TAO:0001573][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001714 label: cranial ganglion
A ganglion on the sensory root of the fifth cranial nerve, situated in a cleft within the dura mater (trigeminal cave) on the anterior surface of the petrous portion of the temporal bone, and giving off the ophthalmic and maxillary and part of the mandibular nerve; it contains the cells of origin of most of the sensory fibers of the trigeminal nerve.
A ganglion on the sensory root of the fifth cranial nerve, situated in a cleft within the dura mater (trigeminal cave) on the anterior surface of the petrous portion of the temporal bone, and giving off the ophthalmic and maxillary and part of the mandibular nerve; it contains the cells of origin of most of the sensory fibers of the trigeminal nerve.[accessedResource: BTO:0001231][accessDate: 05-04-2011]
A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995.[accessedResource: TAO:0000295][accessDate: 05-04-2011]
Gasserian ganglion[accessedResource: FMAID:52618][accessDate: 05-04-2011]
Semilunar ganglion[accessedResource: FMAID:52618][accessDate: 05-04-2011]
gV[accessedResource: TAO:0000295][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001675 label: trigeminal ganglion
Any of four deeply placed masses of gray matter (as the amygdala) in each cerebral hemisphere. Location: The basal ganglion is located deep within the cerebral hemispheres in the telencephalon region of the brain. It consists of the corpus stratium, subthalamic nucleus and the substantia nigra.
Any of four deeply placed masses of gray matter (as the amygdala) in each cerebral hemisphere. Location: The basal ganglion is located deep within the cerebral hemispheres in the telencephalon region of the brain. It consists of the corpus stratium, subthalamic nucleus and the substantia nigra.[accessedResource: BTO:0000235][accessDate: 05-04-2011]
Basal ganglia set[accessedResource: FMAID:84013][accessDate: 05-04-2011]
Basal ganglia[accessedResource: FMAID:84013][accessDate: 05-04-2011]
Set of basal ganglia[accessedResource: FMAID:84013][accessDate: 05-04-2011]
Set of basal nuclei[accessedResource: FMAID:84013][accessDate: 05-04-2011]
Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum.
basal nucleus\][accessedResource: MAT:0000450][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002420 label: basal ganglion
Nucleus of brain which is located medially to the putamen and laterally to the internal capsule.
Pale Body[accessedResource: NIFSTD:birnlex_1234][accessDate: 05-04-2011]
Paleostriatum[accessedResource: FMAID:61835][accessDate: 05-04-2011]
Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle.
Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle.[accessedResource: NIFSTD:birnlex_1234][accessDate: 05-04-2011]
The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon.
The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon.nThe paleostriatum is the phylogenetically older part of the corpus striatum represented by the globus pallidus.
The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon.nThe paleostriatum is the phylogenetically older part of the corpus striatum represented by the globus pallidus.[accessedResource: BTO:0002246][accessDate: 05-04-2011]
pallidum[accessedResource: NIFSTD:birnlex_1234][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001875 label: globus pallidus
A nucleus composed of neurons in the forebrain.
A nucleus composed of neurons in the forebrain.[accessedResource: NCIt:C52733][accessDate: 05-04-2011]
A nucleus forming the floor of the caudal part of the anterior prolongation of the lateral ventricle of the brain.
A nucleus forming the floor of the caudal part of the anterior prolongation of the lateral ventricle of the brain.[accessedResource: BTO:0001862][accessDate: 05-04-2011]
Colliculus of caudate nucleus[accessedResource: FMAID:61889][accessDate: 05-04-2011]
Nucleus accumbens septi[accessedResource: FMAID:61889][accessDate: 05-04-2011]
nucleus accumbens[accessedResource: BTO:0001862][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001882 label: nucleus accumbens
An elongated gray mass of the neostriatum located adjacent to the lateral ventricle of the brain. (MeSH)
An elongated gray mass of the neostriatum located adjacent to the lateral ventricle of the brain. (MeSH)[accessedResource: NCIt:C12451][accessDate: 05-04-2011]
Caudatus[accessedResource: FMAID:61833][accessDate: 05-04-2011]
Nucleus Caudatus[accessedResource: NCIt:C12451][accessDate: 05-04-2011]
One of the centrally-located portions of the brain affected by Huntington's Disease. Speech and swallowing problems arise when this region and another region called the putamen are affected.
One of the centrally-located portions of the brain affected by Huntington's Disease. Speech and swallowing problems arise when this region and another region called the putamen are affected.[accessedResource: BTO:0000211][accessDate: 05-04-2011]
Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species.
Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species.[accessedResource: NIFSTD:birnlex_1373][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001873 label: caudate nucleus
Cerebrospinal axis[accessedResource: FMAID:55675][accessDate: 05-04-2011]
Neuraxis[accessedResource: FMAID:55675][accessDate: 05-04-2011]
Organ with organ cavity which consists of gray matter and white matter. Examples: There is only one neuraxis.
The brain and spinal cord. Kimmel et al, 1995.
The brain and spinal cord. Kimmel et al, 1995.[accessedResource: TAO:0000012][accessDate: 05-04-2011]
The brain and spinal cord.[accessedResource: ZFA:0000012][accessDate: 05-04-2011]
cns[accessedResource: TAO:0000012][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001017 label: central nervous system
Organ component of neuraxis that has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. Examples: There is only one forebrain.
The anterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and that especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions.
The anterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and that especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions.[accessedResource: BTO:0000478][accessDate: 05-04-2011]
The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.
The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[accessedResource: TAO:0000109][accessDate: 05-04-2011]
The most anterior region the brain including both the telencephalon and diencephalon.[accessedResource: ZFA:0000109][accessDate: 05-04-2011]
prosencephalon[accessedResource: TAO:0000109][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001890 label: forebrain
Dorsal thalamus (Anthoney)[accessedResource: FMAID:62007][accessDate: 05-04-2011]
Dorsal thalamus[accessedResource: FMAID:62007][accessDate: 05-04-2011]
Multi-tissue structure that is paired, and is situated one on either side of and forming part of the lateral wall of the third ventricle.
Multi-tissue structure that is paired, and is situated one on either side of and forming part of the lateral wall of the third ventricle.[accessedResource: ZFA:0001215][accessDate: 05-04-2011]
The largest subdivision of the diencephalon that consists chiefly of an ovoid mass of nuclei in each lateral wall of the third ventricle and functions in the integration of sensory information.
The largest subdivision of the diencephalon that consists chiefly of an ovoid mass of nuclei in each lateral wall of the third ventricle and functions in the integration of sensory information.[accessedResource: BTO:0001365][accessDate: 05-04-2011]
thalami[accessedResource: ZFA:0001215][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001897 label: thalamus
Between brain[accessedResource: FMAID:62001][accessDate: 05-04-2011]
Interbrain[accessedResource: NIFSTD:birnlex_1503][accessDate: 05-04-2011]
Mature diencephalon[accessedResource: FMAID:62001][accessDate: 05-04-2011]
Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus. There is only one diencephalon.
The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis).
The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.
The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.[accessedResource: TAO:0000101][accessDate: 05-04-2011]
The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis).[accessedResource: ZFA:0000101][accessDate: 05-04-2011]
The posterior subdivision of the forebrain.
The posterior subdivision of the forebrain.[accessedResource: BTO:0000342][accessDate: 05-04-2011]
use http://purl.obolibrary.org/obo/UBERON_0001894 label: diencephalon
An enlarged anterior or upper part of the brain; especially: the expanded anterior portion of the brain that in higher mammals overlies the rest of the brain, consists of cerebral hemispheres and connecting structures, and is considered to be the seat of conscious mental processes.
An enlarged anterior or upper part of the brain; especially: the expanded anterior portion of the brain that in higher mammals overlies the rest of the brain, consists of cerebral hemispheres and connecting structures, and is considered to be the seat of conscious mental processes.[accessedResource: BTO:0000239][accessDate: 05-04-2011]
Communicating branch of phrenic nerve to internal thoracic plexus
Communicating branch of phrenic nerve to internal thoracic plexus[accessedResource: FMAID:6200][accessDate: 05-04-2011]
The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.
The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[accessedResource: TAO:0000079][accessDate: 05-04-2011]
The anterior and dorsal forebrain neuromere. In ray-finned fishes and most pronounced in teleosts the roof plate of the embryonic telencephalon extends laterally with the effect that the paired alar plates forming the hemispheric walls roll out lateroventrally in a process called eversion. This is unlike the development in other vertebrate groups. From Neuroanatomy of the Zebrafish Brain.
The anterior and dorsal forebrain neuromere. In ray-finned fishes and most pronounced in teleosts the roof plate of the embryonic telencephalon extends laterally with the effect that the paired alar plates forming the hemispheric walls roll out lateroventrally in a process called eversion. This is unlike the development in other vertebrate groups. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000079][accessDate: 05-04-2011]
The telencephalon is the name for a large region within the brain that is attributed many functions. Many people refer to it as the cerebrum; however, it is technically referred to as the telencephalon. As a more technical definition, the telencephalon refers to the cerebral hemispheres and other, smaller structures within the brain, although the telencephalon is one of the larger divisions (in terms of number). It is the anterior-most embryological division of the brain that develops from the prosencephalon. The telencephalon is composed of the following sub-regions; Limbic system; Cerebral cortex or cortices of the cerebral hemispheres, Basal ganglia, Olfactory bulb. The telencephalon comprises what most people think of as the "brain." It lies on top of the brainstem and is the largest and most well-developed of the five major divisions of the brain. The telencephalon is the newest structure in the phylogenetic sense, with mammals having the largest and most well-developed among all species. It emerges from the prosencephalon, the first of three vesicles that form from the embryonic neural tube (Christine Fennema-Notestine).
The telencephalon is the name for a large region within the brain that is attributed many functions. Many people refer to it as the cerebrum; however, it is technically referred to as the telencephalon. As a more technical definition, the telencephalon refers to the cerebral hemispheres and other, smaller structures within the brain, although the telencephalon is one of the larger divisions (in terms of number). It is the anterior-most embryological division of the brain that develops from the prosencephalon. The telencephalon is composed of the following sub-regions; Limbic system; Cerebral cortex or cortices of the cerebral hemispheres, Basal ganglia, Olfactory bulb. The telencephalon comprises what most people think of as the "brain." It lies on top of the brainstem and is the largest and most well-developed of the five major divisions of the brain. The telencephalon is the newest structure in the phylogenetic sense, with mammals having the largest and most well-developed among all species. It emerges from the prosencephalon, the first of three vesicles that form from the embryonic neural tube (Christine Fennema-Notestine).[accessedResource: NIFSTD:birnlex_1115][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001893 label: telencephalon
Anterior portion of the frontal cortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally.
Anterior portion of the frontal cortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally.[accessedResource: NIFSTD:nlx_anat_20090601][accessDate: 05-04-2011]
Front part of the brain; involved in planning, organizing, problem solving, selective attention, personality and a variety of higher cognitive functions including behavior and emotions.
Front part of the brain; involved in planning, organizing, problem solving, selective attention, personality and a variety of higher cognitive functions including behavior and emotions.[accessedResource: BTO:0000484][accessDate: 05-04-2011]
Frontal cortex[accessedResource: NIFSTD:nlx_anat_20090601][accessDate: 05-04-2011]
Frontal region[accessedResource: FMAID:61824][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001870 label: frontal cortex
Parietal cortex[accessedResource: FMAID:61826][accessDate: 05-04-2011]
Parietal region[accessedResource: FMAID:61826][accessDate: 05-04-2011]
The upper central lobe of the cerebral hemisphere, separated from the temporal lobe below by the lateral sulcus, but continuous at the posterior end of that sulcus, and separated from the frontal lobe by the central sulcus. Behind, it is continuous with the occipital lobe on the lateral surface, but separated from it by the parietooccipital sulcus on the medial surface.
The upper central lobe of the cerebral hemisphere, separated from the temporal lobe below by the lateral sulcus, but continuous at the posterior end of that sulcus, and separated from the frontal lobe by the central sulcus. Behind, it is continuous with the occipital lobe on the lateral surface, but separated from it by the parietooccipital sulcus on the medial surface.[accessedResource: BTO:0001001][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001872 label: parietal lobe
Occipital cortex[accessedResource: FMAID:67325][accessDate: 05-04-2011]
Occipital region[accessedResource: FMAID:67325][accessDate: 05-04-2011]
This lobe is located at the back of the head and is involved in vision and reading.
This lobe is located at the back of the head and is involved in vision and reading.[accessedResource: BTO:0000293][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002021 label: occipital lobe
The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate c. (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19).
The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate cortex (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19).
The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate cortex (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19).[accessedResource: BTO:0001857][accessDate: 05-04-2011]
striate cortex[accessedResource: MAT:0000509][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000411 label: visual cortex
One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (e.g., the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape).
One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (for example, the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape).
One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (for example, the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape).[accessedResource: BTO:0001355][accessDate: 05-04-2011]
Temporal cortex[accessedResource: FMAID:61825][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001871 label: temporal lobe
Brain structure which is part of the diencephalon and consists of the dorsal and ventral nuclei of the habenula, and two dorsal outgrowths, the epiphysis and the saccus dorsalis. From Neuroanatomy of the Zebrafish Brain.
Brain structure which is part of the diencephalon and consists of the dorsal and ventral nuclei of the habenula, and two dorsal outgrowths, the epiphysis and the saccus dorsalis. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000509][accessDate: 05-04-2011]
The caudal part of the roof and the adjoining lateral walls of the third ventricle of the diencephalon, comprising the habenular nuclei and their commissure, pineal body, and commissure of the epithalamus.
The caudal part of the roof and the adjoining lateral walls of the third ventricle of the diencephalon, comprising the habenular nuclei and their commissure, pineal body, and commissure of the epithalamus.[accessedResource: BTO:0000175][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001899 label epithalamus
Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. Examples: There is only one midbrain.
The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally.
The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.
The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.[accessedResource: TAO:0000128][accessDate: 05-04-2011]
The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally.[accessedResource: ZFA:0000128][accessDate: 05-04-2011]
The middle of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain.
The middle of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain.[accessedResource: BTO:0000138][accessDate: 05-04-2011]
mesencephalon[accessedResource: ZFA:0000128][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001891 label: midbrain
Midbrain tectum[accessedResource: FMAID:83902][accessDate: 05-04-2011]
Multi-tissue structure that is the dorsal part of the midbrain and develops from the alar plate and is the most complex layered structure in the zebrafish brain.
Multi-tissue structure that is the dorsal part of the midbrain and develops from the alar plate and is the most complex layered structure in the zebrafish brain.[accessedResource: ZFA:0001353][accessDate: 05-04-2011]
Neuraxis tectum[accessedResource: FMAID:83902][accessDate: 05-04-2011]
The dorsal part of the midbrain including the corpora quadrigemina.
The dorsal part of the midbrain including the corpora quadrigemina.[accessedResource: BTO:0001793][accessDate: 05-04-2011]
dorsal midbrain[accessedResource: ZFA:0001353][accessDate: 05-04-2011]
mesencephalic tectum[accessedResource: TAO:0001353][accessDate: 05-04-2011]
optic tectum[accessedResource: ZFA:0001353][accessDate: 05-04-2011]
tectal lobe[accessedResource: ZFA:0001353][accessDate: 05-04-2011]
tectum mesencephali[accessedResource: BTO:0001793][accessDate: 05-04-2011]
tectum opticum[accessedResource: ZFA:0001353][accessDate: 05-04-2011]
Mesencephalic tegmentum[accessedResource: FMAID:62393][accessDate: 05-04-2011]
Midbrain tegmentum[accessedResource: FMAID:62393][accessDate: 05-04-2011]
Multi-tissue structure that is the ventral part of the midbrain and develops from the basal plate. The tegmentum is bordered rostrally by the synencephalon, dorsal thalamus and posterior tuberculum, ventrally by the hypothalamus, and dorsolaterally by the torus semicircularis; caudally the tegmentum is continuous with the medulla oblongata.
Multi-tissue structure that is the ventral part of the midbrain and develops from the basal plate. The tegmentum is bordered rostrally by the synencephalon, dorsal thalamus and posterior tuberculum, ventrally by the hypothalamus, and dorsolaterally by the torus semicircularis; caudally the tegmentum is continuous with the medulla oblongata.[accessedResource: ZFA:0001354][accessDate: 05-04-2011]
Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle.
Tegmentum of midbrain[accessedResource: FMAID:62393][accessDate: 05-04-2011]
Nucleus of basis pedunculi[accessedResource: FMAID:67947][accessDate: 05-04-2011]
Soemmering's substance[accessedResource: FMAID:67947][accessDate: 05-04-2011]
Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons.
The substantia nigra is located in the mesencephalon (mid brain) region of the brain. It is part of the basal ganglia.
The substantia nigra is located in the mesencephalon (mid brain) region of the brain. It is part of the basal ganglia.[accessedResource: BTO:0000143][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002038 label: substantia nigra
Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata . Examples: There is only one hindbrain.
The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.
The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.[accessedResource: TAO:0000029][accessDate: 05-04-2011]
The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. From Neuroanatomy of the Zebrafish Brain.
The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000029][accessDate: 05-04-2011]
The posterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes the cerebellum, the medulla oblongata, and in mammals the pons and that controls autonomic functions and equilibrium.
The posterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes the cerebellum, the medulla oblongata, and in mammals the pons and that controls autonomic functions and equilibrium.[accessedResource: BTO:0000672][accessDate: 05-04-2011]
rhombencephalon[accessedResource: TAO:0000029][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002028 label: hindbrain
Brain structure that is located ventrocaudal to the cerebellum and just anterior to the spinal cord and contains the sensory and motor nuclei of six cranial nerves. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here.
Brain structure that is located ventrocaudal to the cerebellum and just anterior to the spinal cord and contains the sensory and motor nuclei of six cranial nerves. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here.[accessedResource: ZFA:0000545][accessDate: 05-04-2011]
Bulb[accessedResource: FMAID:62004][accessDate: 05-04-2011]
Metepencephalon[accessedResource: FMAID:62004][accessDate: 05-04-2011]
Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. Examples: There is only one medulla oblongata.
The part of the vertebrate brain that is continuous posteriorly with the spinal cord and that contains the centers controlling involuntary vital functions.
The part of the vertebrate brain that is continuous posteriorly with the spinal cord and that contains the centers controlling involuntary vital functions.[accessedResource: BTO:0000041][accessDate: 05-04-2011]
medulla oblonmgata[accessedResource: MAT:0000111][accessDate: 05-04-2011]
medulla[accessedResource: NIFSTD:birnlex_957][accessDate: 05-04-2011]
myelencephalon[accessedResource: NIFSTD:birnlex_957][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001896 label: medulla oblongata
Bilaterally paired neuropil structure situated postero-dorsally in the protocerebrum that functions in olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; and the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma).
Bilaterally paired neuropil structure situated postero-dorsally in the protocerebrum that functions in olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; and the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma).[accessedResource: FBbt:00005801][accessDate: 05-04-2011]
Bilaterally paired neuropil structure situated postero-dorsally in the protocerebrum that functions in olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma).
Paired neuropil structure situated postero-dorsally in the protocerebrum, which are thought to be crucial to olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma).
Paired neuropil structure, situated postero-dorsally in the protocerebrum, which are thought to be crucial to olfactory associative learning and memory. Mushroom bodies are divided into: the calyx, closest to the cortex, which receives sensory interneuron afferents; a thick axon bundle called the pedunculus, which extends from the calyx to the base of the lobes; the mushroom body lobe system consisting of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma).
The Drosophila mushroom bodies (MBs), paired brain structures composed of vertical and medial lobes, achieve their final organization at metamorphosis.
The Drosophila mushroom bodies (MBs), paired brain structures composed of vertical and medial lobes, achieve their final organization at metamorphosis.[accessedResource: BTO:0002675][accessDate: 05-04-2011]
corpora pedunculata[accessedResource: FBbt:00005801][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001058 label: mushroom body
A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons.
Region of the cortex that lies in a medial cleft dividing the left and right protocerebrum. It contains numerous large and small somata of neurosecretory and neuromodulatory neurons.
Region of the cortex that lies in a medial cleft dividing the left and right protocerebrum. It contains numerous large and small somata of neurosecretory and neuromodulatory neurons.[accessedResource: FBbt:00005802][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001059 label: pars intercerebralis
1. The primordial kidney; a vestigial excretory structure or its rudiments developing in the embryo at four weeks, before the mesonephros. Although nonfunctional, its duct is later used by the mesonephros, which arises caudal to it.n2. The definitive excretory organ of primitive fishes.
1. The primordial kidney; a vestigial excretory structure or its rudiments developing in the embryo at four weeks, before the mesonephros. Although nonfunctional, its duct is later used by the mesonephros, which arises caudal to it.n2. The definitive excretory organ of primitive fishes.[accessedResource: BTO:0001541][accessDate: 05-04-2011]
The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.
The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.
The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.[accessedResource: TAO:0000151][accessDate: 05-04-2011]
The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.[accessedResource: ZFA:0000151][accessDate: 05-04-2011]
The first kidney is all vertebrates - it is transitional and disappears soon after it has formed.
The first kidney is all vertebrates - it is transitional and disappears soon after it has formed.[accessedResource: MAT:0000117][accessDate: 05-04-2011]
embryonic kidney[accessedResource: ZFA:0000151][accessDate: 05-04-2011]
kidney[accessedResource: TAO:0000151][accessDate: 05-04-2011]
pronephric nephron[accessedResource: ZFA:0000151][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002120 label: pronephros
The excretory organ of the embryo, arising caudal to the pronephros or pronephric rudiments and using its duct; it consists of a long tube in the lower part of the body cavity, running parallel with the vertebral axis and joined at right angles by a row of twisting tubes.
The excretory organ of the embryo, arising caudal to the pronephros or pronephric rudiments and using its duct; it consists of a long tube in the lower part of the body cavity, running parallel with the vertebral axis and joined at right angles by a row of twisting tubes.[accessedResource: BTO:0001542][accessDate: 05-04-2011]
The functioning kidney in fish and amphibia
The functioning kidney in fish and amphibia[accessedResource: MAT:0000118][accessDate: 05-04-2011]
kidney[accessedResource: ZFA:0000529][accessDate: 05-04-2011]
mesonephron[accessedResource: BTO:0001542][accessDate: 05-04-2011]
mesonephros - adult[accessedResource: MAT:0000118][accessDate: 05-04-2011]
mesonephrpric kidney[accessedResource: MAT:0000118][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000080 label: mesonephros
1: One of a pair of vertebrate organs situated in the body cavity near the spinal column that excrete waste products of metabolism, in humans are bean-shaped organs about 4 1/2 inches (11 1/2 centimeters) long lying behind the peritoneum in a mass of fatty tissue, and consist chiefly of nephrons by which urine is secreted, collected, and discharged into a main cavity whence it is conveyed by the ureter to the bladder.n2: Any of various excretory organs of invertebrate animals.
1: One of a pair of vertebrate organs situated in the body cavity near the spinal column that excrete waste products of metabolism, in humans are bean-shaped organs about 4 1/2 inches (11 1/2 centimeters) long lying behind the peritoneum in a mass of fatty tissue, and consist chiefly of nephrons by which urine is secreted, collected, and discharged into a main cavity whence it is conveyed by the ureter to the bladder.n2: Any of various excretory organs of invertebrate animals.[accessedResource: BTO:0000671][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney
Organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: There are only two ureters, the right and the left ureters.
The tube that carries urine from the kidney to the bladder.
The tube that carries urine from the kidney to the bladder.[accessedResource: BTO:0001409][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000056 label: ureter
Organ with organ cavity which connects the cavity of the urinary bladder to the exterior. Examples: There is only one urethra.
The tube through which urine leaves the body. It empties urine from the bladder.
The tube through which urine leaves the body. It empties urine from the bladder.[accessedResource: BTO:0001426][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000057 label: urethra
Bronchial trunk[accessedResource: FMAID:7409][accessDate: 05-04-2011]
Either of the two primary divisions of the trachea that lead respectively into the right and the left lung.
Either of the two primary divisions of the trachea that lead respectively into the right and the left lung.[accessedResource: BTO:0001340][accessDate: 05-04-2011]
main bronchus[accessedResource: MAT:0000133][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002185 label: bronchus
A paired respiratory organ in fishes consisting of gill filaments on the gill arch in the posterior portion of the head and usually providing the primary exchange of gases between the blood and the surrounding water.
A paired respiratory organ in fishes consisting of gill filaments on the gill arch in the posterior portion of the head and usually providing the primary exchange of gases between the blood and the surrounding water.[accessedResource: BTO:0000518][accessDate: 05-04-2011]
Compound organ that consists of gill filaments, gill lamellae, gill rakers and pharyngeal arches 3-7. The gills are responsible for primary gas exchange between the blood and the surrounding water.
Compound organ that consists of gill filaments, gill lamellae, gill rakers and pharyngeal arches 3-7. The gills are responsible for primary gas exchange between the blood and the surrounding water.[accessedResource: ZFA:0000354][accessDate: 05-04-2011]
external gill[accessedResource: MAT:0000134][accessDate: 05-04-2011]
gills[accessedResource: ZFA:0000354][accessDate: 05-04-2011]
Lobular organ which has as its parts alveoli connected to the tracheobronchial tree. Examples: There are only two instances, right lung and left lung.
One of the usually paired compound saccular thoracic organs that constitute the basic respiratory organ of air-breathing vertebrates.
One of the usually paired compound saccular thoracic organs that constitute the basic respiratory organ of air-breathing vertebrates.[accessedResource: BTO:0000763][accessDate: 05-04-2011]
lungs[accessedResource: MAT:0000135][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung
1: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. It is kept patent by a series of about twenty transverse horseshoe-shaped cartilages. Called also windpipe.n2: One of a system of minute tubes ramifying throughout the body of a terrestrial arthropod and delivering air to the tissues. Called also tracheal tubule.
1: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. It is kept patent by a series of about twenty transverse horseshoe-shaped cartilages. Called also windpipe.n2: One of a system of minute tubes ramifying throughout the body of a terrestrial arthropod and delivering air to the tissues. Called also tracheal tubule.[accessedResource: BTO:0001388][accessDate: 05-04-2011]
Cuticle-lined epithelial tube that forms part of the tracheal system. The thinnest trachea consist of a single tracheocyte folded back on itself to form a tube.
Cuticle-lined epithelial tube that forms part of the tracheal system. The thinnest trachea consist of a single tracheocyte folded back on itself to form a tube.[accessedResource: FBbt:00005043][accessDate: 05-04-2011]
Windpipe[accessedResource: FMAID:7394][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003126 label: trachea
In its simplest form, the aperture or opening into a trachea (primary tracheal orifice); in most insects, sunken below the surface of the integument (secondary orifice) thus comprising a chamber, the spiracular atrium, and the external opening into this chamber, the spiracular opening.
In its simplest form, the aperture or opening into a trachea (primary tracheal orifice); in most insects, sunken below the surface of the integument (secondary orifice) thus comprising a chamber, the spiracular atrium, and the external opening into this chamber, the spiracular opening.[accessedResource: TGMA:0000578][accessDate: 05-04-2011]
Opening of the tracheal system on the surface of the body.
Opening of the tracheal system on the surface of the body.[accessedResource: FBbt:00005054][accessDate: 05-04-2011]
The mostly slit-like opening on the body surface of the insects through which air is taken into the respiratory system.
spiracular gland[accessedResource: MAT:0000208][accessDate: 05-04-2011]
The thin muscle below the lungs and heart that separates the chest from the abdomen.
The thin muscle below the lungs and heart that separates the chest from the abdomen.[accessedResource: BTO:0000341][accessDate: 05-04-2011]
Thoracic diaphragm[accessedResource: FMAID:13295][accessDate: 05-04-2011]
future diaphragm[accessedResource: MAT:0000502][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001103 label: diaphragm
A sensillum with a long, unicellular, setiform outgrowth that is strongly chitinized.
A sensillum with a long, unicellular, setiform outgrowth that is strongly chitinized.[accessedResource: FBbt:00005177][accessDate: 05-04-2011]
chaeta[accessedResource: FBbt:00005177][accessDate: 05-04-2011]
sensillum chaeticum[accessedResource: FBbt:00005177][accessDate: 05-04-2011]
A simple epithelial sense organ of an invertebrate (as an insect) usually in the form of a spine, plate, rod, cone, or peg that is composed of one or a few cells with a nerve connection.
A simple epithelial sense organ of an invertebrate (as an insect) usually in the form of a spine, plate, rod, cone, or peg that is composed of one or a few cells with a nerve connection.[accessedResource: BTO:0001237][accessDate: 05-04-2011]
Defined by Snodgrass as "a simple sense organ, or one of the structural units of a compound sense organ," and by Schneider as "a specialized area of the integument, consisting of formative cells, the sensory nerve cells, and, in some cases, auxiliary cells".
Defined by Snodgrass as "a simple sense organ, or one of the structural units of a compound sense organ," and by Schneider as "a specialized area of the integument, consisting of formative cells, the sensory nerve cells, and, in some cases, auxiliary cells".[accessedResource: TGMA:0000540][accessDate: 05-04-2011]
seta[accessedResource: MAT:0000163][accessDate: 05-04-2011]
An auditory and vibration detector in insects
An auditory and vibration detector in insects[accessedResource: MAT:0000209][accessDate: 05-04-2011]
Mechanosensory organ, generally attached to the body wall and consisting of one or more scolopidia.
Mechanosensory organ, generally attached to the body wall and consisting of one or more scolopidia.[accessedResource: FBbt:00005215][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001038 label: chordotonal organ
A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)
A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000034][accessDate: 05-04-2011]
a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes[accessedResource: MAT:0000249][accessDate: 05-04-2011]
lateral_line_system[accessedResource: MAT:0000249][accessDate: 05-04-2011]
ll[accessedResource: ZFA:0000034][accessDate: 05-04-2011]
sensory system[accessedResource: TAO:0000282][accessDate: 05-04-2011]
sensory systems[accessedResource: TAO:0000282][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002540 label: lateral line system
*Subdivision of skeleton which consists of the bones of the vertebral column, the thoracic cage and the pelvis.
Axial skeleton[accessedResource: FMAID:71221][accessDate: 05-04-2011]
The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.
The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[accessedResource: ZFA:0000317][accessDate: 05-04-2011]
The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.
The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[accessedResource: TAO:0000317][accessDate: 05-04-2011]
postcranial axia skelton[accessedResource: MAT:0000148][accessDate: 05-04-2011]
postcranial axial skeleton[accessedResource: ZFA:0000317][accessDate: 05-04-2011]
Anatomical cluster that is part of the cranium and composed of cartilage and cartilage replacement bones.
Subdivision of skeletal system which consists of the skeleton of the head and its joints.
Synonym with cranium, use cranium instead.
The outer non-living layer of the integumentary system derived from the epidermis.
The outer non-living layer of the integumentary system derived from the epidermis.[accessedResource: FBbt:00004970][accessDate: 05-04-2011]
cuticle[accessedResource: FBbt:00004970][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002428 label: limb bone
Shoulder girdle[accessedResource: FMAID:23217][accessDate: 05-04-2011]
Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles.
Upper limb girdle[accessedResource: FMAID:23217][accessDate: 05-04-2011]
girdle - pectoral[accessedResource: MAT:0000181][accessDate: 05-04-2011]
Subdivision of free lower limb, which is the proximal segment of a lower limb and links the free lower limb to the trunk; it is demarcated by the plane of the surface of the acetabular fossa from the free lower limb; together with the free lower limb, it constitutes the lower limb. Examples: There are only two instances, right and left pelvic girdles.
girdle - pelvic[accessedResource: MAT:0000182][accessDate: 05-04-2011]
Anatomical cluster which consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.
Anatomical cluster which consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.[accessedResource: TAO:0000367][accessDate: 05-04-2011]
Anatomical junction which consists of parts of two or more adjacent bones or cartilages which are interconnected by organs and/or organ parts that consist of various types of connective tissue. Together with other joints and bones, a joint constitutes the skeletal system. Examples: pubic symphysis, knee joint, temporomandibular joint.
Set of all joints[accessedResource: FMAID:228659][accessDate: 05-04-2011]
The point of contact between elements of an animal skeleton with the parts that surround and support it.
The point of contact between elements of an animal skeleton with the parts that surround and support it.[accessedResource: BTO:0001686][accessDate: 05-04-2011]
A specialized, fibrous connective tissue, forming most of the temporary skeleton of the embryo, providing a model in which most of the bones develop, and constituting an important part of the growth mechanism of the organism. It exists in several types, the most important of which are hyaline cartilage, elastic cartilage, and fibrocartilage. Also used as a general term to designate a mass of such tissue in a particular site in the body.
A specialized, fibrous connective tissue, forming most of the temporary skeleton of the embryo, providing a model in which most of the bones develop, and constituting an important part of the growth mechanism of the organism. It exists in several types, the most important of which are hyaline cartilage, elastic cartilage, and fibrocartilage. Also used as a general term to designate a mass of such tissue in a particular site in the body.[accessedResource: BTO:0000206][accessDate: 05-04-2011]
Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited.
Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited.[accessedResource: TAO:0001501][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000277
axial fin skeleton[accessedResource: ZFA:0001123][accessDate: 05-04-2011]
unpaired fin skeleton[accessedResource: ZFA:0001123][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000278
Skeletal system that consists of the paired fins (pectoral or pelvic fins).
Skeletal system that consists of the paired fins (pectoral or pelvic fins).[accessedResource: TAO:0000027][accessDate: 05-04-2011]
appendicular skeleton[accessedResource: TAO:0000027][accessDate: 05-04-2011]
A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales.
A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales.[accessedResource: ZFA:0001119][accessDate: 05-04-2011]
Dense irregular connective tissue which consists of a papillary layer and a reticular layer.
The sensitive vascular inner mesodermic layer of the skin.
The sensitive vascular inner mesodermic layer of the skin.[accessedResource: BTO:0000294][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002067 label: dermis
A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present.
A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present.[accessedResource: ZFA:0000105][accessDate: 05-04-2011]
The outer epithelial layer of the external integument of the animal body that is derived from the embryonic epiblast; specifically: the outer nonsensitive and nonvascular layer of the skin of a vertebrate that overlies the dermis.
The outer epithelial layer of the external integument of the animal body that is derived from the embryonic epiblast; specifically: the outer nonsensitive and nonvascular layer of the skin of a vertebrate that overlies the dermis.[accessedResource: BTO:0000404][accessDate: 05-04-2011]
adult epidermis[accessedResource: FBbt:00005401][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001003 label: epidermis
Any of the light horny epidermal outgrowths that form the external covering of the body of birds and that consist of a shaft bearing on each side a series of barbs which bear barbules which in turn bear barbicels commonly ending in hooked hamuli and interlocking with the barbules of an adjacent barb to link the barbs into a continuous vane.
Any of the light horny epidermal outgrowths that form the external covering of the body of birds and that consist of a shaft bearing on each side a series of barbs which bear barbules which in turn bear barbicels commonly ending in hooked hamuli and interlocking with the barbules of an adjacent barb to link the barbs into a continuous vane.[accessedResource: BTO:0000447][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000022 label: feather
Nail plate[accessedResource: FMAID:54326][accessDate: 05-04-2011]
claw[accessedResource: MAT:0000158][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001705 label: nail
1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head.
1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head.[accessedResource: BTO:0001501][accessDate: 05-04-2011]
vibrissa[accessedResource: MAT:0000160][accessDate: 05-04-2011]
One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of a vertebrate embryo, consist typically of a curved segmented bar or rod on each side meeting the contralateral bar or rod at the ventral end, and correspond to the gill arches of fishes and amphibians.
One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of a vertebrate embryo, consist typically of a curved segmented bar or rod on each side meeting the contralateral bar or rod at the ventral end, and correspond to the gill arches of fishes and amphibians.[accessedResource: BTO:0001785][accessDate: 05-04-2011]
branchial arch[accessedResource: BTO:0001785][accessDate: 05-04-2011]
pharyngeal arches[accessedResource: ZFA:0001306][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002539 label: pharyngeal arch
Dermal bone that is thin, flexible, and platelike, and that develops in overlapping skinfolds that cover the body and often the head of fish and the bases of the fins.
Dermal bone that is thin, flexible, and platelike, and that develops in overlapping skinfolds that cover the body and often the head of fish and the bases of the fins.[accessedResource: ZFA:0000277][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000257
scales[accessedResource: ZFA:0000277][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002542 label: scale
One of the repeated divisions of the whole organism.
One of the repeated divisions of the whole organism.[accessedResource: FBbt:00000003][accessDate: 05-04-2011]
segment - adult[accessedResource: MAT:0000271][accessDate: 05-04-2011]
segment[accessedResource: FBbt:00000003][accessDate: 05-04-2011]
Nonparenchymatous organ that consists of the epidermis, dermis and sets of hair and nails and which surrounds the entire body. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin.
Skin of body[accessedResource: FMAID:7163][accessDate: 05-04-2011]
The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers.
The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers.[accessedResource: BTO:0001253][accessDate: 05-04-2011]
Organism subdivision which is the part of the body posterior to the vent which includes the anal and caudal fins.
Organism subdivision which is the part of the body posterior to the vent which includes the anal and caudal fins.[accessedResource: ZFA:0001117][accessDate: 05-04-2011]
The rear end or a process or prolongation of the rear end of the body of an animal.
The rear end or a process or prolongation of the rear end of the body of an animal.[accessedResource: BTO:0001348][accessDate: 05-04-2011]
post-vent region[accessedResource: ZFA:0001117][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002415 label: tail
Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the skull, it is partially surrounded by skin of head. Examples: There is only one head.
Head (volume)[accessedResource: FMAID:7154][accessDate: 05-04-2011]
Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.
Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.[accessedResource: TAO:0001114][accessDate: 05-04-2011]
The anterior section (tagma) of the insect body bearing the compound eyes, antennae and mouthparts; separated from the thorax by the cervix.
The anterior section (tagma) of the insect body bearing the compound eyes, antennae and mouthparts; separated from the thorax by the cervix.[accessedResource: TGMA:0000002][accessDate: 05-04-2011]
The upper or anterior division of the animal body that contains the brain, the chief sense organs, and the mouth.
The upper or anterior division of the animal body that contains the brain, the chief sense organs, and the mouth.[accessedResource: BTO:0000282][accessDate: 05-04-2011]
adult head[accessedResource: TGMA:0000002][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000033 label: head
1: The part of the mammalian body between the neck and the abdomen; also: its cavity in which the heart and lungs lie.n2: The middle of the three chief divisions of the body of an insect; also: the corresponding part of a crustacean or an arachnid.
1: The part of the mammalian body between the neck and the abdomen; also: its cavity in which the heart and lungs lie.n2: The middle of the three chief divisions of the body of an insect; also: the corresponding part of a crustacean or an arachnid.[accessedResource: BTO:0001368][accessDate: 05-04-2011]
A small, slender, rigid, needle- or thornlike spicule.
A small, slender, rigid, needle- or thornlike spicule.[accessedResource: TGMA:000136][accessDate: 05-04-2011]
Any blade with a few short branches arising apically or subapically.
Chest[accessedResource: FMAID:9576][accessDate: 05-04-2011]
Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper. Examples: There is only one thorax.
The main middle section of the insect body comprising three thoracic rings: the pro-, the meso- and the metathoraces which are more or less well fused and cask-like sometimes having on the upper lateral part one of two pairs of wings, while on the ventrolateral part each thoracic ring bears a pair of legs.
The main middle section of the insect body comprising three thoracic rings: the pro-, the meso- and the metathoraces which are more or less well fused and cask-like sometimes having on the upper lateral part one of two pairs of wings, while on the ventrolateral part each thoracic ring bears a pair of legs.[accessedResource: FBbt:00000015][accessDate: 05-04-2011]
acicula[accessedResource: TGMA:000136][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001443 label: chest
1: The human or animal body apart from the head and appendages.n2: The thorax of an insect.
1: The human or animal body apart from the head and appendages.n2: The thorax of an insect.[accessedResource: BTO:0001493][accessDate: 05-04-2011]
Organism subdivision which is the part of the body posterior to the head and anterior to the tail.
Organism subdivision which is the part of the body posterior to the head and anterior to the tail.[accessedResource: TAO:0001115][accessDate: 05-04-2011]
Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the ribcage, thoracic and lumbar vertebral column, sacrum and coccyx, it is partially surrounded by skin of trunk. Examples: There is only one trunk.
Torso[accessedResource: FMAID:7181][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002100 label: trunk
Neck (volume)[accessedResource: FMAID:7155][accessDate: 05-04-2011]
Spine Neck[accessedResource: NIFSTD:sao1642908940][accessDate: 05-04-2011]
Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck.
The membranous tube that attaches the thorax to the margins of the occipital foramen.
The membranous tube that attaches the thorax to the margins of the occipital foramen.[accessedResource: TGMA:0000005][accessDate: 05-04-2011]
The part of an animal that connects the head with the body.
The part of an animal that connects the head with the body.[accessedResource: BTO:0000420][accessDate: 05-04-2011]
adult neck[accessedResource: TGMA:0000005][accessDate: 05-04-2011]
pedicle[accessedResource: NIFSTD:sao1642908940][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000974 label: neck
1: The part of the body between the thorax and the pelvis; also: the cavity of this part of the trunk containing the chief viscera.n2: The posterior section of the body behind the thorax in an arthropod.
1: The part of the body between the thorax and the pelvis; also: the cavity of this part of the trunk containing the chief viscera.n2: The posterior section of the body behind the thorax in an arthropod.[accessedResource: BTO:0000020][accessDate: 05-04-2011]
Abdominopelvic region[accessedResource: FMAID:9577][accessDate: 05-04-2011]
Abdominopelvis[accessedResource: FMAID:9577][accessDate: 05-04-2011]
Subdivision of trunk proper, which is demarcated from the thorax internally by the inferior surface of the sternocostal part of the diaphragm and externally by the costal margin, from the back of abdomen by the external surface of the posterior abdominal wall, from the perineum by the superior surface of the urogenital diaphragm and from the lower limbs by the inguinal folds; together with the thorax, and perineum, it constitutes the trunk proper. Examples: There is only one abdomen.
The most posterior of the three tagma (FBbt:00000002).
The most posterior of the three tagma (FBbt:00000002).[accessedResource: FBbt:00000020][accessDate: 05-04-2011]
The third large region of the insect body, which originally comprised twelve segments, each segment is usually formed by a dorsal tergite and a ventral sternite and carries on both sides a spiracle, sometimes, both the dorsal and the ventral plates are further subdivided to give rise to latero-tergites and latero-sternites. In the context of Drosophila refers to the most posterior of the three main tagmata or divisions of the body plan, after the head and the thorax.
The third, posterior division (tagma) of the insect body. In adult mosquitoes, consisting of ten apparent segments.
The third, posterior division (tagma) of the insect body. In adult mosquitoes, consisting of ten apparent segments.[accessedResource: TGMA:0000524][accessDate: 05-04-2011]
adult abdomen[accessedResource: TGMA:0000524][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000916 label: abdomen
.[accessedResource: FBbt:00004864][accessDate: 05-04-2011]
Female genital system[accessedResource: FMAID:45663][accessDate: 05-04-2011]
Gonochoristic organism that can produce female gametes.
Gonochoristic organism that can produce female gametes.[accessedResource: ZFA:0000303][accessDate: 05-04-2011]
The internal and external reproductive organs in the female.
The internal and external reproductive organs in the female.[accessedResource: BTO:0000083][accessDate: 05-04-2011]
The reproductive system in women includes the ovaries, the fallopian tubes, the uterus (womb), the cervix, and the vagina (birth canal).
female organism[accessedResource: ZFA:0000303][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000474 label: female reproductive system
Accessory Sex Organs, Male[accessedResource: MSH:D005837][accessDate: 05-04-2011]
Genital Organs, Male[accessedResource: MSH:D005837][accessDate: 05-04-2011]
Genitalia, Male[accessedResource: MSH:D005837][accessDate: 05-04-2011]
Gonochoristic organism that can produce male gametes.
Gonochoristic organism that can produce male gametes.[accessedResource: ZFA:0000242][accessDate: 05-04-2011]
Male Genital Organs[accessedResource: MSH:D005837][accessDate: 05-04-2011]
Male Genitalia[accessedResource: MSH:D005837][accessDate: 05-04-2011]
Male genital system[accessedResource: FMAID:45664][accessDate: 05-04-2011]
Organs, Male Genital[accessedResource: MSH:D005837][accessDate: 05-04-2011]
Sex Organs, Accessory, Male[accessedResource: MSH:D005837][accessDate: 05-04-2011]
The internal and external reproductive organs in the male.
The internal and external reproductive organs in the male.[accessedResource: BTO:0000082][accessDate: 05-04-2011]
The male reproductive organs. They are divided into the external organs (PENIS; SCROTUM;and URETHRA) and the internal organs (TESTIS; EPIDIDYMIS; VAS DEFERENS; SEMINAL VESICLES; EJACULATORY DUCTS; PROSTATE; and BULBOURETHRAL GLANDS).
The male reproductive organs. They are divided into the external organs (PENIS; SCROTUM;and URETHRA) and the internal organs (TESTIS; EPIDIDYMIS; VAS DEFERENS; SEMINAL VESICLES; EJACULATORY DUCTS; PROSTATE; and BULBOURETHRAL GLANDS).[accessedResource: MSH:D005837][accessDate: 05-04-2011]
The reproductive system in men includes the prostate, the testes, and the penis.
male organism[accessedResource: ZFA:0000242][accessDate: 05-04-2011]
male[accessedResource: MAT:0000029][accessDate: 05-04-2011]
reproductive system - male[accessedResource: MAT:0000029][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000079 label: male reproductive system
OntologyMappingImporter following MAT:0000165
Use http://purl.obolibrary.org/obo/UBERON_0002537 label: hermaphrodite gonad
The lateral expansion of the posterior part of the cibarium.
Female reproductive organ.[accessedResource: TAO:0000403][accessDate: 05-04-2011]
ovaries[accessedResource: ZFA:0000403][accessDate: 05-04-2011]
ovary - animal[accessedResource: MAT:0000125][accessDate: 05-04-2011]
ovary[accessedResource: TAO:0000403][accessDate: 05-04-2011]
A long slender tube that extends from the upper lateral cornu of the uterus to the region of the ovary of the same side; it is attached to the broad ligament by the mesosalpinx, and consists of an ampulla, an infundibulum, an isthmus, two ostia, and a pars uterina.
Either of a pair of slender ducts through which ova pass from the ovaries to the uterus in the female reproductive system of humans and higher mammals.
Either of a pair of slender ducts through which ova pass from the ovaries to the uterus in the female reproductive system of humans and higher mammals.[accessedResource: BTO:0000980][accessDate: 05-04-2011]
Fallopian tube[accessedResource: FMAID:18245][accessDate: 05-04-2011]
Organ with organ cavity which connects the uterine cavity to the peritoneal cavity. Examples: There are only two uterine tubes, the right and the left uterine tubes.
Uterine tube[accessedResource: FMAID:18245][accessDate: 05-04-2011]
oviducts[accessedResource: ZFA:0000560][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000993 label: oviduct
An elongate muscular pouch that is the site of egg fertilization. It is lined with a thin chitinous intima and is connected to the common oviduct anteriorly and the vulva posteriorly. The uterus holds a single egg at a time, with its micropyle near the opening of the seminal receptacle.
An elongate muscular pouch that is the site of egg fertilization. It is lined with a thin chitinous intima and is connected to the common oviduct anteriorly and the vulva posteriorly. The uterus holds a single egg at a time, with its micropyle near the opening of the seminal receptacle.[accessedResource: FBbt:00004924][accessDate: 05-04-2011]
An organ of the female mammal for containing and usually for nourishing the young during development previous to birth.
An organ of the female mammal for containing and usually for nourishing the young during development previous to birth.[accessedResource: BTO:0001424][accessDate: 05-04-2011]
Organ with organ cavity which is continuous proximally with the right and left uterine tubes and distally is connected to the vagina. Examples: There is only one uterus.
uterine horn[accessedResource: MAT:0000127][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000995 label: uterus
A canal in a female mammal that leads from the uterus to the external orifice of the genital canal.
A canal in a female mammal that leads from the uterus to the external orifice of the genital canal.[accessedResource: BTO:0000243][accessDate: 05-04-2011]
An elongate muscular pouch, the anterior part of which is the uterus, where eggs are fertilized, and the posterior part of which, the vulva is the copulatory orifice and site of exit for eggs.
An elongate muscular pouch, the anterior part of which is the uterus, where eggs are fertilized, and the posterior part of which, the vulva is the copulatory orifice and site of exit for eggs.[accessedResource: FBbt:00004925][accessDate: 05-04-2011]
In most female insects, an ectodermal pouch derived from the posteroventral part of abdominal segment VIII (possibly IX in some insects) and sometimes adjacent parts of the abdominal venter; ending anteriorly at the posterior end of the common oviduct. In mosquitoes and some other insects, the roof of the vagina is formed by the venter of abdominal segment IX; partially divided transversely by the spermathecal eminence and sometimes the upper vaginal sclerites.
In most female insects, an ectodermal pouch derived from the posteroventral part of abdominal segment VIII (possibly IX in some insects) and sometimes adjacent parts of the abdominal venter; ending anteriorly at the posterior end of the common oviduct. In mosquitoes and some other insects, the roof of the vagina is formed by the venter of abdominal segment IX; partially divided transversely by the spermathecal eminence and sometimes the upper vaginal sclerites.[accessedResource: TGMA:0000607][accessDate: 05-04-2011]
Organ with organ cavity which connects the cervical canal of uterus to the vestibule of vagina. Examples: There is only one vagina.
genital chamber[accessedResource: FBbt:00004925][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000996 label: vagina
A bilaterally paired, mushroom-shaped organ consisting of a capsule connected to the uterus by a slender duct. The capsule is an, inverted, double-walled bowl, the outer wall of which is a layer of cuboidal epithelium and the inner wall of which is chitinous intima secreted by the epithelium. After copulation, the lumen of the capsule is filled with a concentrically coiled mass of the spermatozoa.
A bilaterally paired, mushroom-shaped organ consisting of a capsule connected to the uterus by a slender duct. The capsule is an, inverted, double-walled bowl, the outer wall of which is a layer of cuboidal epithelium and the inner wall of which is chitinous intima secreted by the epithelium. After copulation, the lumen of the capsule is filled with a concentrically coiled mass of the spermatozoa.[accessedResource: FBbt:00004921][accessDate: 05-04-2011]
In most female insects, the usual sperm storage organ; a posteroventral ectodermal caecum of abdominal segment VIII located just behind the common oviduct; attached to the anterodorsal end of the vagina if the latter is developed; usually single but sometimes up to four are present. In mosquitoes, one, two or three may be present, each consisting of a spermathecal capsule at the end of a spermathecal duct.
In most female insects, the usual sperm storage organ; a posteroventral ectodermal caecum of abdominal segment VIII located just behind the common oviduct; attached to the anterodorsal end of the vagina if the latter is developed; usually single but sometimes up to four are present. In mosquitoes, one, two or three may be present, each consisting of a spermathecal capsule at the end of a spermathecal duct.[accessedResource: TGMA:0000560][accessDate: 05-04-2011]
seminal receptacle[accessedResource: MAT:0000168][accessDate: 05-04-2011]
spermatheca[accessedResource: MAT:0000168][accessDate: 05-04-2011]
spermathecae[accessedResource: FBbt:00004921][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000994 label: spermathecum
Female pudendum[accessedResource: FMAID:20462][accessDate: 05-04-2011]
Puboperineal region[accessedResource: FMAID:20462][accessDate: 05-04-2011]
The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina.
ovarian epithelial cell[accessedResource: BTO:0001055][accessDate: 05-04-2011]
A constricted portion of an organ or part; especially: the narrow outer end of the uterus.
A constricted portion of an organ or part; especially: the narrow outer end of the uterus.[accessedResource: BTO:0001421][accessDate: 05-04-2011]
Cervical canal of uterus[accessedResource: FMAID:17740][accessDate: 05-04-2011]
Cervical canal[accessedResource: FMAID:17740][accessDate: 05-04-2011]
Cervix of uterus[accessedResource: FMAID:17740][accessDate: 05-04-2011]
Neck of uterus[accessedResource: FMAID:17740][accessDate: 05-04-2011]
Uterine cervix[accessedResource: FMAID:17740][accessDate: 05-04-2011]
The mucous membrane lining the uterus.[accessedResource: BTO:0001422][accessDate: 05-04-2011]
Tunica mucosa (Endometrium)[accessedResource: FMAID:17742][accessDate: 05-04-2011]
uterine endometrium[accessedResource: BTO:0001422][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001295 label: endometrium
Deferent duct[accessedResource: FMAID:19234][accessDate: 05-04-2011]
vas deferens[accessedResource: FBbt:00004968][accessDate: 05-04-2011]
vasa deferentia[accessedResource: MAT:0000129][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001000 label vas deferens
A system of ductules emerging posteriorly from the testis that holds sperm during maturation and that forms a tangled mass before uniting into a single coiled duct which is continuous with the vas deferens.
A system of ductules emerging posteriorly from the testis that holds sperm during maturation and that forms a tangled mass before uniting into a single coiled duct which is continuous with the vas deferens.[accessedResource: BTO:0000408][accessDate: 05-04-2011]
Epididymis[accessedResource: FMAID:18255][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001301 label: epididymis
A typically paired male reproductive gland that produces sperm and that in most mammals is contained within the scrotum at sexual maturity.
A typically paired male reproductive gland that produces sperm and that in most mammals is contained within the scrotum at sexual maturity.[accessedResource: BTO:0001363][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000473 label: testis
Either of the paired ducts in the human male that are formed by the junction of the duct from the seminal vesicle with the vas deferens, pass through the prostate, and open into or close to the prostatic utricle.
Either of the paired ducts in the human male that are formed by the junction of the duct from the seminal vesicle with the vas deferens, pass through the prostate, and open into or close to the prostatic utricle.[accessedResource: BTO:0001580][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000999 label: ejaculatory duct
Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct.[accessedResource: BTO:0001234][accessDate: 05-04-2011]
Seminal gland[accessedResource: FMAID:19386][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000998 label: seminal vesicle
A male organ of copulation that in male mammals including humans usually functions as the channel by which urine leaves the body.
A male organ of copulation that in male mammals including humans usually functions as the channel by which urine leaves the body.[accessedResource: BTO:0000405][accessDate: 05-04-2011]
Distal part of the aedeagus consisting of a median, scleratised, pointed lobe through which the ejaculatory duct discharges.
Distal part of the aedeagus consisting of a median, scleratised, pointed lobe through which the ejaculatory duct discharges.[accessedResource: FBbt:00004852][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000989 label: penis
The individual or generation of a plant exhibiting alternation of generations that bears sex organs.
The individual or generation of a plant exhibiting alternation of generations that bears sex organs.[accessedResource: BTO:0000495][accessDate: 05-04-2011]
The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves.
The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves.[accessedResource: BTO:0001188][accessDate: 05-04-2011]
A formative plant tissue usually made up of small cells capable of dividing indefinitely and giving rise to similar cells or to cells that differentiate to produce the definitive tissues and organs.
A formative plant tissue usually made up of small cells capable of dividing indefinitely and giving rise to similar cells or to cells that differentiate to produce the definitive tissues and organs.[accessedResource: BTO:0000852][accessDate: 05-04-2011]
Meristem is a plant component consisting of undifferentiated plant issue - the botanical equivalent of animal stem cells.
Undifferentiated plant issue - the botanical equivalent of animal stem cells
Undifferentiated plant issue - the botanical equivalent of animal stem cells[accessedResource: MAT:0000006][accessDate: 05-04-2011]
A matured ovule containing an embryo and food supply and covered by a seed coat.
A matured ovule containing an embryo and food supply and covered by a seed coat.[accessedResource: BTO:0001226][accessDate: 05-04-2011]
seed[accessedResource: BTO:0001226][accessDate: 05-04-2011]
A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature.
A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature.[accessedResource: BTO:0001243][accessDate: 05-04-2011]
A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis.
A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis.[accessedResource: BTO:0000713][accessDate: 05-04-2011]
fluid - plant[accessedResource: MAT:0000347][accessDate: 05-04-2011]
The supportive and conductive tissue in plants, consisting of xylem and phloem.
The supportive and conductive tissue in plants, consisting of xylem and phloem.[accessedResource: BTO:0001432][accessDate: 05-04-2011]
reproductive system - plant[accessedResource: MAT:0000514][accessDate: 05-04-2011]
developmental tissue - plant[accessedResource: MAT:0000518][accessDate: 05-04-2011]
The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes.
The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes.[accessedResource: BTO:0001276][accessDate: 05-04-2011]
sperm[accessedResource: MAT:0000218][accessDate: 05-04-2011]
A plant body that is characteristic of thallophytes , lacks differentiation into distinct members (as stem, leaves, and roots), and does not grow from an apical point.
A plant body that is characteristic of thallophytes , lacks differentiation into distinct members (as stem, leaves, and roots), and does not grow from an apical point.[accessedResource: BTO:0001366][accessDate: 05-04-2011]
a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves
a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves[accessedResource: MAT:0000248][accessDate: 05-04-2011]
leaf of a moss or liverwort[accessedResource: MAT:0000276][accessDate: 05-04-2011]
A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves.
A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves.[accessedResource: BTO:0001181][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000220
root meristem - apical[accessedResource: MAT:0000220][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000221
root meristem - lateral[accessedResource: MAT:0000221][accessDate: 05-04-2011]
The fascia dentata is the earliest stage of the hippocampal circuit. The fascia dentata and the hilus together make up the dentate gyrus.
The fascia dentata is the earliest stage of the hippocampal circuit. The fascia dentata and the hilus together make up the dentate gyrus.[accessedResource: BTO:0002615][accessDate: 05-04-2011]
The main root of a plant, usually stouter than the lateral roots and growing straight downward from the stem.
fascia dentata[accessedResource: BTO:0002615][accessDate: 05-04-2011]
A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots.
A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots.[accessedResource: BTO:0001804][accessDate: 05-04-2011]
Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria.
Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria.[accessedResource: BTO:0001190][accessDate: 05-04-2011]
A thimble-shaped group of cells found at the tip of roots; it functions to protect the meristem.
A thimble-shaped group of cells found at the tip of roots; it functions to protect the meristem.[accessedResource: BTO:0000039][accessDate: 05-04-2011]
A short fleshy usually underground stem bearing minute scale leaves each of which bears a bud in its axil and is potentially able to produce a new plant.
A short fleshy usually underground stem bearing minute scale leaves each of which bears a bud in its axil and is potentially able to produce a new plant.[accessedResource: BTO:0001400][accessDate: 05-04-2011]
A thin formative layer between the xylem and phloem of most vascular plants that gives rise to new cells and is responsible for secondary growth;nA lateral meristem in vascular plants, including the vascular cambium and cork cambium, that forms parallel rows of cells resulting in secondary tissues.
A thin formative layer between the xylem and phloem of most vascular plants that gives rise to new cells and is responsible for secondary growth;nA lateral meristem in vascular plants, including the vascular cambium and cork cambium, that forms parallel rows of cells resulting in secondary tissues.[accessedResource: BTO:0000170][accessDate: 05-04-2011]
The layer of active cells between xylem and phloem that gives rise to secondary tissues (e.g. bark)
The layer of active cells between xylem and phloem that gives rise to secondary tissues (e.g. bark)[accessedResource: MAT:0000223][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000224
shoot meristem - apical[accessedResource: MAT:0000224][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000225
shoot meristem - lateral[accessedResource: MAT:0000225][accessDate: 05-04-2011]
The lower part of the axis of a plant embryo or seedling.
The lower part of the axis of a plant embryo or seedling.[accessedResource: BTO:0001152][accessDate: 05-04-2011]
A triploid nutritive tissue resulting from the fusion of a haploid sperm nucleus with the two haploid polar nuclei in the ovule of angiosperms.
A triploid nutritive tissue resulting from the fusion of a haploid sperm nucleus with the two haploid polar nuclei in the ovule of angiosperms.[accessedResource: BTO:0000390][accessDate: 05-04-2011]
The outer layer of a seed that is developed from the integuments of the ovule; the testa.
The outer layer of a seed that is developed from the integuments of the ovule; the testa.[accessedResource: BTO:0001227][accessDate: 05-04-2011]
A seed leaf; the first leaf formed in a seed.
A seed leaf; the first leaf formed in a seed.[accessedResource: BTO:0000300][accessDate: 05-04-2011]
Any small part of the embryo or adult metazoon more or less resembling the bud of a plant and presumed to have potential for growth and differentiation.
Any small part of the embryo or adult metazoon more or less resembling the bud of a plant and presumed to have potential for growth and differentiation.[accessedResource: BTO:0001639][accessDate: 05-04-2011]
The reproductive structure of the anthophyta or angiosperms.
The reproductive structure of the anthophyta or angiosperms.[accessedResource: BTO:0000469][accessDate: 05-04-2011]
flower[accessedResource: BTO:0000469][accessDate: 05-04-2011]
The often showy flower component attached just inside the sepals; petals are usually colorful to attract pollinators.
The often showy flower component attached just inside the sepals; petals are usually colorful to attract pollinators.[accessedResource: BTO:0001040][accessDate: 05-04-2011]
One of the modified leaves comprising a calyx.
One of the modified leaves comprising a calyx.[accessedResource: BTO:0001547][accessDate: 05-04-2011]
A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies.
A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies.[accessedResource: BTO:0001728][accessDate: 05-04-2011]
The mature ovary or ovaries of a seed-bearing plant, together with accessory parts, containing the seeds and occurring in a wide variety of forms.
The mature ovary or ovaries of a seed-bearing plant, together with accessory parts, containing the seeds and occurring in a wide variety of forms.[accessedResource: BTO:0000486][accessDate: 05-04-2011]
A flower cluster with a definite arrangement.
A flower cluster with a definite arrangement.[accessedResource: BTO:0000628][accessDate: 05-04-2011]
RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression.
An assay in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions.
An assay in which the transcriptome of a biological sample is analysed.
An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation.
The epidermal complex consisting of two guard cells and the pore between them.
The epidermal complex consisting of two guard cells and the pore between them.[accessedResource: BTO:0000052][accessDate: 05-04-2011]
stoma[accessedResource: BTO:0000052][accessDate: 05-04-2011]
The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots.
The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots.[accessedResource: BTO:0001300][accessDate: 05-04-2011]
The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm.
The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm.[accessedResource: BTO:0001301][accessDate: 05-04-2011]
A complex tissue in the vascular system of higher plants that consists of vessels, tracheids, or both usually together with wood fibers and parenchyma cells, functions chiefly in conduction of water and dissolved minerals but also in support and food storage, and typically constitutes the woody element (as of a plant stem).
A complex tissue in the vascular system of higher plants that consists of vessels, tracheids, or both usually together with wood fibers and parenchyma cells, functions chiefly in conduction of water and dissolved minerals but also in support and food storage, and typically constitutes the woody element (as of a plant stem).[accessedResource: BTO:0001468][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000365
A complex tissue in the vascular system of higher plants that consists mainly of sieve tubes and elongated parenchyma cells usually with fibers and that functions in translocation and in support and storage.
A complex tissue in the vascular system of higher plants that consists mainly of sieve tubes and elongated parenchyma cells usually with fibers and that functions in translocation and in support and storage.[accessedResource: BTO:0001058][accessDate: 05-04-2011]
The fluid between the cell wall and the plasma membrane
The fluid between the cell wall and the plasma membrane[accessedResource: MAT:0000348][accessDate: 05-04-2011]
apoplast[accessedResource: MAT:0000348][accessDate: 05-04-2011]
A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey.
A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey.[accessedResource: BTO:0000537][accessDate: 05-04-2011]
A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves.
A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves.[accessedResource: BTO:0000159][accessDate: 05-04-2011]
A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure.
A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure.[accessedResource: BTO:0000285][accessDate: 05-04-2011]
The floral organ that produces pollen; consisting of an anther and filament.
The floral organ that produces pollen; consisting of an anther and filament.[accessedResource: BTO:0001559][accessDate: 05-04-2011]
The female reproductive part of a flower, consisting of stigma, style, and ovary.
The female reproductive part of a flower, consisting of stigma, style, and ovary.[accessedResource: BTO:0000072][accessDate: 05-04-2011]
The enlarged rounded usually basal portion of the pistil or gynoecium of an angiospermous plant that bears the ovules and consists of one or more carpels.
The enlarged rounded usually basal portion of the pistil or gynoecium of an angiospermous plant that bears the ovules and consists of one or more carpels.[accessedResource: BTO:0000750][accessDate: 05-04-2011]
ovary - plant[accessedResource: MAT:0000517][accessDate: 05-04-2011]
The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate.
The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate.[accessedResource: BTO:0001303][accessDate: 05-04-2011]
A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid.
A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid.[accessedResource: MSH:D007918][accessDate: 05-04-2011]
Disease, Hansen's[accessedResource: MSH:D007918][accessDate: 05-04-2011]
Disease, Hansen[accessedResource: MSH:D007918][accessDate: 05-04-2011]
HANSEN DIS[accessedResource: MSH:D007918][accessDate: 05-04-2011]
HANSENS DIS[accessedResource: MSH:D007918][accessDate: 05-04-2011]
Hansen Disease[accessedResource: MSH:D007918][accessDate: 05-04-2011]
Hansen's disease[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011]
Hansens Disease[accessedResource: MSH:D007918][accessDate: 05-04-2011]
Infection due to Mycobacterium leprae[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011]
LEPROSY NEC[accessedResource: ICD9:030.8][accessDate: 05-04-2011]
LEPROSY NOS[accessedResource: ICD9:030.9][accessDate: 05-04-2011]
Leprosies[accessedResource: MSH:D007918][accessDate: 05-04-2011]
Leprosy (disorder)[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011]
Leprosy NOS (disorder)[accessedResource: SNOMEDCT:186339006][accessDate: 05-04-2011]
Leprosy, NOS[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011]
Leprosy, unspecified[accessedResource: ICD9:030.9][accessDate: 05-04-2011]
Mycobacterium leprae infection[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011]
Other specified leprosy[accessedResource: ICD9:030.8][accessDate: 05-04-2011]
[X]Leprosy, unspecified (disorder)[accessedResource: SNOMEDCT:187316006][accessDate: 05-04-2011]
[X]Leprosy, unspecified[accessedResource: SNOMEDCT:187316006][accessDate: 05-04-2011]
A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.
A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.[accessedResource: MSH:D015439][accessDate: 05-04-2011]
BB - Borderline leprosy[accessedResource: SNOMEDCT:400154003][accessDate: 05-04-2011]
Borderline Leprosies[accessedResource: MSH:D015439][accessDate: 05-04-2011]
Borderline leprosy (disorder)[accessedResource: DOID:1023][accessDate: 05-04-2011]
Borderline leprosy [group B][accessedResource: DOID:1023][accessDate: 05-04-2011]
Borderline or dimorphous leprosy[accessedResource: DOID:1023][accessDate: 05-04-2011]
Dimorphous Leprosies[accessedResource: MSH:D015439][accessDate: 05-04-2011]
Dimorphous Leprosy[accessedResource: MSH:D015439][accessDate: 05-04-2011]
Group B leprosy[accessedResource: SNOMEDCT:400008009][accessDate: 05-04-2011]
Leprosies, Borderline[accessedResource: MSH:D015439][accessDate: 05-04-2011]
Leprosies, Dimorphous[accessedResource: MSH:D015439][accessDate: 05-04-2011]
Leprosy, Borderline[accessedResource: MSH:D015439][accessDate: 05-04-2011]
Leprosy, Dimorphous[accessedResource: MSH:D015439][accessDate: 05-04-2011]
Midborderline leprosy (disorder)[accessedResource: DOID:1023][accessDate: 05-04-2011]
Midborderline leprosy[accessedResource: SNOMEDCT:400154003][accessDate: 05-04-2011]
Type BB leprosy[accessedResource: SNOMEDCT:400154003][accessDate: 05-04-2011]
A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.
A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Full tuberculoid leprosy[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011]
Leprosies, Macular[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Leprosies, Neural[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Leprosies, Tuberculoid[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Leprosy, Macular[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Leprosy, Neural[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Leprosy, Tuberculoid[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Macular Leprosies[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Macular Leprosy[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Neural Leprosies[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Neural Leprosy[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Nodular leprosy[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011]
Smooth leprosy[accessedResource: DOID:1025][accessDate: 05-04-2011]
TT - Full tuberculoid leprosy[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011]
Tuberculoid Leprosies[accessedResource: MSH:D015441][accessDate: 05-04-2011]
Tuberculoid leprosy (disorder)[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011]
Tuberculoid leprosy [type T][accessedResource: ICD9:030.1][accessDate: 05-04-2011]
Type TT leprosy[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011]
type T leprosy[accessedResource: DOID:1025][accessDate: 05-04-2011]
A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.
A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Cutaneous Leprosies[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Cutaneous Leprosy[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Full lepromatous leprosy[accessedResource: SNOMEDCT:21560005][accessDate: 05-04-2011]
LL - Full lepromatous leprosy[accessedResource: SNOMEDCT:21560005][accessDate: 05-04-2011]
Lepromatous Leprosies[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Lepromatous leprosy (disorder)[accessedResource: SNOMEDCT:21560005][accessDate: 05-04-2011]
Lepromatous leprosy [type L][accessedResource: ICD9:030.0][accessDate: 05-04-2011]
Leprosies, Cutaneous[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Leprosies, Lepromatous[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Leprosies, Nodular[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Leprosy, Cutaneous[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Leprosy, Lepromatous[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Leprosy, Nodular[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Nodular Leprosies[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Nodular Leprosy[accessedResource: MSH:D015440][accessDate: 05-04-2011]
Type LL leprosy[accessedResource: SNOMEDCT:21560005][accessDate: 05-04-2011]
type L leprosy[accessedResource: DOID:10887][accessDate: 05-04-2011]
A sensory system disease is a disease which has as location the sensory system.
CATARACT NEC[accessedResource: ICD9:366.8][accessDate: 05-04-2011]
CATARACT W RADIATION[accessedResource: ICD9:366.46][accessDate: 05-04-2011]
CATARACT W SYNDROME NEC[accessedResource: ICD9:366.44][accessDate: 05-04-2011]
Cat. - Cataract[accessedResource: SNOMEDCT:193570009][accessDate: 05-04-2011]
Cataract (M-54510)[accessedResource: SNOMEDCT:128306009][accessDate: 05-04-2011]
Cataract (disorder)[accessedResource: SNOMEDCT:193570009][accessDate: 05-04-2011]
Cataract (morphologic abnormality)[accessedResource: SNOMEDCT:128306009][accessDate: 05-04-2011]
Cataract NOS (disorder)[accessedResource: SNOMEDCT:193623003][accessDate: 05-04-2011]
Cataract NOS[accessedResource: SNOMEDCT:193623003][accessDate: 05-04-2011]
Cataract associated with other disorders
Cataract associated with other disorders[accessedResource: ICD9:366.4][accessDate: 05-04-2011]
Cataract associated with other syndromes
Cataract associated with other syndromes (disorder)
Cataract associated with other syndromes (disorder)[accessedResource: SNOMEDCT:193608008][accessDate: 05-04-2011]
Cataract associated with other syndromes[accessedResource: ICD9:366.44][accessDate: 05-04-2011]
Cataract associated with radiation and other physical influences
Cataract associated with radiation and other physical influences[accessedResource: ICD9:366.46][accessDate: 05-04-2011]
Cataract form (observable entity)[accessedResource: SNOMEDCT:247053007][accessDate: 05-04-2011]
Cataract form[accessedResource: SNOMEDCT:247053007][accessDate: 05-04-2011]
Cataract, Membranous[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Cataracts, Membranous[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Cataracts[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Lens Opacities[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Lens Opacity[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Lenticular opacity[accessedResource: SNOMEDCT:193570009][accessDate: 05-04-2011]
Membranous Cataract[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Membranous Cataracts[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Opacities, Lens[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Opacity, Lens[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Other cataract (disorder)[accessedResource: SNOMEDCT:193620000][accessDate: 05-04-2011]
Other cataract NOS (disorder)[accessedResource: SNOMEDCT:193622008][accessDate: 05-04-2011]
Other cataract NOS[accessedResource: SNOMEDCT:193622008][accessDate: 05-04-2011]
Other cataract[accessedResource: ICD9:366.8][accessDate: 05-04-2011]
Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)
Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)[accessedResource: NCIt:C26713][accessDate: 05-04-2011]
Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)
Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Pseudoaphakia[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Pseudoaphakias[accessedResource: MSH:D002386][accessDate: 05-04-2011]
Unspecified cataract[accessedResource: ICD9:366.9][accessDate: 05-04-2011]
A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.[accessedResource: DOID:10608][accessDate: 05-04-2011]
A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.[accessedResource: MSH:D002446][accessDate: 05-04-2011]
CD - Celiac disease[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
CD - Coeliac disease[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
CELIAC DIS[accessedResource: MSH:D002446][accessDate: 05-04-2011]
CS - Celiac sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
CS - Coeliac sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Celiac Sprue[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Celiac disease (disorder)[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Celiac disease NOS (disorder)[accessedResource: DOID:10608][accessDate: 05-04-2011]
Celiac disease NOS[accessedResource: SNOMEDCT:197481005][accessDate: 05-04-2011]
Celiac rickets (disorder)[accessedResource: SNOMEDCT:275404008][accessDate: 05-04-2011]
Celiac rickets[accessedResource: SNOMEDCT:275404008][accessDate: 05-04-2011]
Celiac syndrome[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Coeliac disease NOS[accessedResource: SNOMEDCT:197481005][accessDate: 05-04-2011]
Coeliac disease [Ambiguous][accessedResource: DOID:10608][accessDate: 05-04-2011]
Coeliac disease[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Coeliac rickets[accessedResource: SNOMEDCT:275404008][accessDate: 05-04-2011]
Coeliac sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Coeliac syndrome[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Disease, Celiac[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Enteropathies, Gluten-Sensitive[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Enteropathies, Gluten[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Enteropathy, Gluten-Sensitive[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Enteropathy, Gluten[accessedResource: MSH:D002446][accessDate: 05-04-2011]
GSE - Gluten-sensitive enteropathy[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Gluten Enteropathies[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Gluten Enteropathy[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Gluten Sensitive Enteropathy[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Gluten-Induced Enteropathy[accessedResource: NCIt:C26714][accessDate: 05-04-2011]
Gluten-Sensitive Enteropathies[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Gluten-Sensitive Enteropathy[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Gluten-induced enteropathy syndrome[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Gluten-responsive sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Idiopathic steatorrhea[accessedResource: DOID:10608][accessDate: 05-04-2011]
Idiopathic steatorrhoea[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Non Tropical Sprue[accessedResource: NCIt:C26714][accessDate: 05-04-2011]
Non-tropical sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Nontropical sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Sprue, Celiac[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Sprue, Nontropical[accessedResource: MSH:D002446][accessDate: 05-04-2011]
Sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
Steatorrhoea - idiopathic[accessedResource: DOID:10608][accessDate: 05-04-2011]
Wheat-sensitive enteropathy[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011]
A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.
A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
A carcinoma that affects the cervix uteri or cervical area.
A carcinoma that is located_in the cervix uteri or located_in the cervical area.
A carcinoma that is located_in the cervix uteri or located_in the cervical area.[accessedResource: DOID:2893][accessDate: 05-04-2011]
Cancer of Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Cancer of Uterine Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Cancer of the Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Cancer of the Uterine Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Carcinoma of Cervix Uteri[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Carcinoma of Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Carcinoma of Uterine Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Carcinoma of the Cervix Uteri[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Carcinoma of the Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Carcinoma of the Uterine Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Cervical Cancer[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.
Cervix Cancer[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Cervix Carcinoma[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Cervix Uteri Carcinoma[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Uterine Cervix Cancer[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
Uterine Cervix Carcinoma[accessedResource: NCIt:C9039][accessDate: 05-04-2011]
carcinoma cervix uteri[accessedResource: DOID:2893][accessDate: 05-04-2011]
carcinoma of cervix (disorder)[accessedResource: DOID:2893][accessDate: 05-04-2011]
cervical carcinoma (uterus)[accessedResource: DOID:2893][accessDate: 05-04-2011]
A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.
A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.[accessedResource: DOID:11259][accessDate: 05-04-2011]
CMV - Cytomegalovirus infection[accessedResource: SNOMEDCT:28944009][accessDate: 05-04-2011]
CYTOMEGALIC INCLUSION DIS[accessedResource: MSH:D003586][accessDate: 05-04-2011]
CYTOMEGALOVIRUS INFECT[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Cytomagalovirus infection[accessedResource: DOID:11259][accessDate: 05-04-2011]
Cytomegalic Inclusion Diseases[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Cytomegalic inclusion disease[accessedResource: SNOMEDCT:28944009][accessDate: 05-04-2011]
Cytomegaloviral disease, unspecified (disorder)
Cytomegaloviral disease, unspecified (disorder)[accessedResource: DOID:11259][accessDate: 05-04-2011]
Cytomegaloviral disease, unspecified[accessedResource: DOID:11259][accessDate: 05-04-2011]
Cytomegaloviral disease[accessedResource: DOID:11259][accessDate: 05-04-2011]
Cytomegalovirus Infections[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Cytomegalovirus infection (disorder)[accessedResource: DOID:11259][accessDate: 05-04-2011]
Cytomegalovirus infection, NOS[accessedResource: SNOMEDCT:28944009][accessDate: 05-04-2011]
Cytomegalovirus infectious disease[accessedResource: DOID:11259][accessDate: 05-04-2011]
Disease due to Cytomegalovirus[accessedResource: SNOMEDCT:28944009][accessDate: 05-04-2011]
Disease, Cytomegalic Inclusion[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Diseases, Cytomegalic Inclusion[accessedResource: MSH:D003586][accessDate: 05-04-2011]
INCLUSION DIS[accessedResource: MSH:D003586][accessDate: 05-04-2011]
INFECT CYTOMEGALOVIRUS[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Inclusion Disease, Cytomegalic[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Inclusion Disease[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Inclusion Diseases, Cytomegalic[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Inclusion Diseases[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.
Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Infection, Cytomegalovirus[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Infections, Cytomegalovirus[accessedResource: MSH:D003586][accessDate: 05-04-2011]
SALIVARY GLAND VIRUS DIS[accessedResource: MSH:D003586][accessDate: 05-04-2011]
Salivary Gland Virus Disease[accessedResource: MSH:D003586][accessDate: 05-04-2011]
[X]Cytomegaloviral disease, unspecified (disorder)
[X]Cytomegaloviral disease, unspecified (disorder)[accessedResource: SNOMEDCT:187456009][accessDate: 05-04-2011]
[X]Cytomegaloviral disease, unspecified[accessedResource: SNOMEDCT:187456009][accessDate: 05-04-2011]
cytomegalovirus infection[accessedResource: DOID:11259][accessDate: 05-04-2011]
A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.
An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.
An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.[accessedResource: NCIt:C27644][accessDate: 05-04-2011]
An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears.
Deafness NOS (disorder)[accessedResource: SNOMEDCT:267678002][accessDate: 05-04-2011]
Deafness NOS (finding)[accessedResource: SNOMEDCT:267678002][accessDate: 05-04-2011]
Deafness NOS[accessedResource: SNOMEDCT:267678002][accessDate: 05-04-2011]
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004[accessedResource: NCIt:C2993][accessDate: 05-04-2011]
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)[accessedResource: MSH:D004314][accessDate: 05-04-2011]
A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)
A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)[accessedResource: NIFSTD:nlx_dys_20090502][accessDate: 05-04-2011]
Complete trisomy 21 syndrome (disorder)[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011]
Complete trisomy 21 syndrome[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011]
Down Syndrome, Partial Trisomy 21[accessedResource: MSH:D004314][accessDate: 05-04-2011]
Down's syndrome - trisomy 21[accessedResource: DOID:14250][accessDate: 05-04-2011]
Down's syndrome NOS (disorder)[accessedResource: DOID:14250][accessDate: 05-04-2011]
Down's syndrome NOS[accessedResource: SNOMEDCT:254263008][accessDate: 05-04-2011]
Down's syndrome[accessedResource: ICD9:758.0][accessDate: 05-04-2011]
Downs syndrome[accessedResource: NIFSTD:nlx_dys_20090502][accessDate: 05-04-2011]
G Trisomy[accessedResource: DOID:14250][accessDate: 05-04-2011]
Mongolism[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011]
Partial Trisomy 21 Down Syndrome[accessedResource: MSH:D004314][accessDate: 05-04-2011]
Syndrome, Down's[accessedResource: MSH:D004314][accessDate: 05-04-2011]
Syndrome, Down[accessedResource: MSH:D004314][accessDate: 05-04-2011]
T21 - Trisomy 21[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011]
Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome
Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome[accessedResource: NCIt:C2993][accessDate: 05-04-2011]
Trisomy 21 NOS[accessedResource: SNOMEDCT:254263008][accessDate: 05-04-2011]
Trisomy 21 Syndrome[accessedResource: NCIt:C2993][accessDate: 05-04-2011]
Trisomy 21, Meiotic Nondisjunction[accessedResource: MSH:D004314][accessDate: 05-04-2011]
Trisomy 21, Mitotic Nondisjunction[accessedResource: MSH:D004314][accessDate: 05-04-2011]
Trisomy 21[accessedResource: MSH:D004314][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_116' instead. New Label : Down syndrome
ENDOMETRIOSIS NEC[accessedResource: ICD9:617.8][accessDate: 05-04-2011]
ENDOMETRIOSIS NOS[accessedResource: ICD9:617.9][accessDate: 05-04-2011]
Endometriosis (clinical)[accessedResource: SNOMEDCT:129103003][accessDate: 05-04-2011]
Endometriosis (disorder)[accessedResource: SNOMEDCT:129103003][accessDate: 05-04-2011]
Endometriosis (morphologic abnormality)[accessedResource: SNOMEDCT:396224008][accessDate: 05-04-2011]
Endometriosis NOS (disorder)[accessedResource: SNOMEDCT:198259004][accessDate: 05-04-2011]
Endometriosis of other specified sites[accessedResource: ICD9:617.8][accessDate: 05-04-2011]
Endometriosis, site unspecified[accessedResource: ICD9:617.9][accessDate: 05-04-2011]
The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.
The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.[accessedResource: NCIt:C3014][accessDate: 05-04-2011]
experimental autoimmune encephalomyelitis
ALLERGIC ENCEPH EXPER[accessedResource: MSH:D004681][accessDate: 05-04-2011]
ALLERGIC ENCEPH[accessedResource: MSH:D004681][accessDate: 05-04-2011]
AUTOIMMUNE ENCEPH EXPER[accessedResource: MSH:D004681][accessDate: 05-04-2011]
AUTOIMMUNE EXPER ENCEPH[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Allergic Encephalomyelitis, Experimental
Allergic Encephalomyelitis, Experimental[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Allergic encephalomyelitis (disorder)[accessedResource: SNOMEDCT:50776006][accessDate: 05-04-2011]
Allergic encephalomyelitis[accessedResource: SNOMEDCT:50776006][accessDate: 05-04-2011]
An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)
An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Autoimmune Encephalomyelitis, Experimental
Autoimmune Encephalomyelitis, Experimental[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Autoimmune Experimental Encephalomyelitis
Autoimmune Experimental Encephalomyelitis[accessedResource: MSH:D004681][accessDate: 05-04-2011]
ENCEPH ALLERGIC[accessedResource: MSH:D004681][accessDate: 05-04-2011]
ENCEPH AUTOIMMUNE EXPER[accessedResource: MSH:D004681][accessDate: 05-04-2011]
ENCEPH EXPER AUTOIMMUNE[accessedResource: MSH:D004681][accessDate: 05-04-2011]
EXPER ALLERGIC ENCEPH[accessedResource: MSH:D004681][accessDate: 05-04-2011]
EXPER AUTOIMMUNE ENCEPH[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Encephalomyelitis, Allergic[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Encephalomyelitis, Autoimmune Experimental
Encephalomyelitis, Autoimmune Experimental[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Encephalomyelitis, Autoimmune, Experimental
Encephalomyelitis, Autoimmune, Experimental[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Encephalomyelitis, Experimental Allergic
Encephalomyelitis, Experimental Allergic[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Encephalomyelitis, Experimental Autoimmune
Encephalomyelitis, Experimental Autoimmune[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Experimental Allergic Encephalomyelitides
Experimental Allergic Encephalomyelitides[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Experimental Allergic Encephalomyelitis[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Experimental Encephalomyelitis, Autoimmune
Experimental Encephalomyelitis, Autoimmune[accessedResource: MSH:D004681][accessDate: 05-04-2011]
Experimental allergic encephalomyelitis (disorder)
Experimental allergic encephalomyelitis (disorder)[accessedResource: SNOMEDCT:27040004][accessDate: 05-04-2011]
A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.[accessedResource: DOID:1398][accessDate: 05-04-2011]
A disease by infectious agent that is carried out by parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
A successful invasion of a host by an organism that uses the host for food and shelter.
A successful invasion of a host by an organism that uses the host for food and shelter.[accessedResource: NCIt:C27864][accessDate: 05-04-2011]
A systemic infectious disease that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
Disease caused by parasite (disorder)[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Disease caused by parasite, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Disease caused by parasite[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Disease, Parasitic[accessedResource: MSH:D010272][accessDate: 05-04-2011]
Diseases, Parasitic[accessedResource: MSH:D010272][accessDate: 05-04-2011]
Ectoparasitic disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure.
Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure.[accessedResource: MSH:D010272][accessDate: 05-04-2011]
Infestation, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Infestation[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
PARASITIC DIS[accessedResource: MSH:D010272][accessDate: 05-04-2011]
Parasite infestation, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Parasite infestation[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Parasitic Disease[accessedResource: MSH:D010272][accessDate: 05-04-2011]
Parasitic Diseases[accessedResource: MSH:D010272][accessDate: 05-04-2011]
Parasitic disease, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Parasitic endophthalmitis (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitic endophthalmitis NOS (disorder)
Parasitic endophthalmitis NOS (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitic endophthalmitis NOS[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitic eye infection (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitic infection of lung[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitic infection of skin[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitic infection, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Parasitic infectious disease of the central nervous system (disorder)
Parasitic infectious disease of the central nervous system (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitic infectious disease, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Parasitic infestation of orbit (disorder)
Parasitic infestation of orbit (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitic skin infestation (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
Parasitism, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Parasitism[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Parasitosis, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Parasitosis[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011]
Psorospermiasis (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
animal parasitic infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
central nervous system parasitic infectious disease
central nervous system parasitic infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
intestinal parasitism (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
intestinal parasitism NOS (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
intestinal parasitism, unspecified (disorder)
intestinal parasitism, unspecified (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011]
intestinal parasitism, unspecified[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitemia[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic endophthalmitis[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic eye infection[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic eye infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic gastrointestinal disorder[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic infestation of orbit[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic intestinal infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic liver disorder[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic liver infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic lung infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic skin disorder[accessedResource: DOID:1398][accessDate: 05-04-2011]
parasitic skin infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011]
psorospermiasis[accessedResource: DOID:1398][accessDate: 05-04-2011]
skin Infestation NOS[accessedResource: DOID:1398][accessDate: 05-04-2011]
A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.
A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.[accessedResource: MSH:D008288][accessDate: 05-04-2011]
A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.
A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.[accessedResource: NCIt:C34797][accessDate: 05-04-2011]
An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.[accessedResource: DOID:12365][accessDate: 05-04-2011]
Disease due to Plasmodiidae (disorder)[accessedResource: SNOMEDCT:105649009][accessDate: 05-04-2011]
Disease due to Plasmodiidae[accessedResource: SNOMEDCT:105649009][accessDate: 05-04-2011]
Fever, Marsh[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Fever, Remittent[accessedResource: MSH:D008288][accessDate: 05-04-2011]
INFECT PLASMODIUM[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Induced malaria (disorder)[accessedResource: DOID:12365][accessDate: 05-04-2011]
Infection, Plasmodium[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Infections, Plasmodium[accessedResource: MSH:D008288][accessDate: 05-04-2011]
MALARIA COMPLICATED NEC[accessedResource: ICD9:084.9][accessDate: 05-04-2011]
MALARIA NEC[accessedResource: ICD9:084.4][accessDate: 05-04-2011]
MALARIA NOS[accessedResource: ICD9:084.6][accessDate: 05-04-2011]
Malaria (disorder)[accessedResource: SNOMEDCT:61462000][accessDate: 05-04-2011]
Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.
Malaria, NOS[accessedResource: SNOMEDCT:61462000][accessDate: 05-04-2011]
Malaria, unspecified[accessedResource: ICD9:084.6][accessDate: 05-04-2011]
Malarial fever (finding)[accessedResource: SNOMEDCT:248437004][accessDate: 05-04-2011]
Malarial fever[accessedResource: SNOMEDCT:248437004][accessDate: 05-04-2011]
Marsh Fever[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Other malaria (disorder)[accessedResource: SNOMEDCT:266121001][accessDate: 05-04-2011]
Other malaria[accessedResource: ICD9:084.4][accessDate: 05-04-2011]
Other pernicious complications of malaria
Other pernicious complications of malaria[accessedResource: ICD9:084.9][accessDate: 05-04-2011]
PLASMODIUM INFECT[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Paludism[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Plasmodiosis[accessedResource: SNOMEDCT:61462000][accessDate: 05-04-2011]
Plasmodium Infection[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Plasmodium Infections[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Remittent Fever[accessedResource: MSH:D008288][accessDate: 05-04-2011]
Unspecified malaria (disorder)[accessedResource: SNOMEDCT:186797008][accessDate: 05-04-2011]
Unspecified malaria[accessedResource: SNOMEDCT:186797008][accessDate: 05-04-2011]
[X]Unspecified malaria (disorder)[accessedResource: SNOMEDCT:187510004][accessDate: 05-04-2011]
[X]Unspecified malaria[accessedResource: SNOMEDCT:187510004][accessDate: 05-04-2011]
induced malaria[accessedResource: DOID:12365][accessDate: 05-04-2011]
Any condition related to a disturbance between proper intake and utilization of nourishment.
Any condition related to a disturbance between proper intake and utilization of nourishment.[accessedResource: NCIt:C26836][accessDate: 05-04-2011]
Disorder of nutrition[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011]
Disorders caused by nutritional imbalance, either overnutrition or undernutrition.
Disorders caused by nutritional imbalance, either overnutrition or undernutrition.[accessedResource: MSH:D009748][accessDate: 05-04-2011]
Malnutrition[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011]
NUTRITION DIS[accessedResource: MSH:D009748][accessDate: 05-04-2011]
NUTRITIONAL DIS[accessedResource: MSH:D009748][accessDate: 05-04-2011]
Nutrition Disorder[accessedResource: MSH:D009748][accessDate: 05-04-2011]
Nutrition Disorders[accessedResource: MSH:D009748][accessDate: 05-04-2011]
Nutritional Disorders[accessedResource: MSH:D009748][accessDate: 05-04-2011]
Nutritional disease, NOS[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011]
Nutritional disease[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011]
Nutritional disorder (disorder)[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011]
Nutritional disorder, NOS[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011]
nutrition disease[accessedResource: DOID:374][accessDate: 05-04-2011]
A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)
A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)[accessedResource: MSH:D005494][accessDate: 05-04-2011]
Acid Deficiencies, Folic[accessedResource: MSH:D005494][accessDate: 05-04-2011]
Acid Deficiency, Folic[accessedResource: MSH:D005494][accessDate: 05-04-2011]
DEFIC FOLIC ACID[accessedResource: MSH:D005494][accessDate: 05-04-2011]
Deficiencies, Folic Acid[accessedResource: MSH:D005494][accessDate: 05-04-2011]
Deficiency of folic acid[accessedResource: SNOMEDCT:190633005][accessDate: 05-04-2011]
Deficiency, Folic Acid[accessedResource: MSH:D005494][accessDate: 05-04-2011]
FOLIC ACID DEFIC[accessedResource: MSH:D005494][accessDate: 05-04-2011]
Folic Acid Deficiencies[accessedResource: MSH:D005494][accessDate: 05-04-2011]
Folic acid deficiency (disorder)[accessedResource: SNOMEDCT:190633005][accessDate: 05-04-2011]
Folic acid deficiency[accessedResource: DOID:8453][accessDate: 05-04-2011]
deficiency of folic acid (disorder)[accessedResource: DOID:8453][accessDate: 05-04-2011]
A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors.
A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors.[accessedResource: NCIt:C4878][accessDate: 05-04-2011]
A carcinoma that is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
A carcinoma that is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.[accessedResource: DOID:3905][accessDate: 05-04-2011]
Cancer of Lung[accessedResource: NCIt:C4878][accessDate: 05-04-2011]
Cancer of the Lung[accessedResource: NCIt:C4878][accessDate: 05-04-2011]
Cancer, Lung[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Cancer, Pulmonary[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Cancers, Lung[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Cancers, Pulmonary[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Carcinoma of Lung[accessedResource: NCIt:C4878][accessDate: 05-04-2011]
Carcinoma of the Lung[accessedResource: NCIt:C4878][accessDate: 05-04-2011]
LUNG NEOPL[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Lung Cancer[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Lung Cancers[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Lung Neoplasm[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Lung Neoplasms[accessedResource: MSH:D008175][accessDate: 05-04-2011]
NEOPL LUNG[accessedResource: MSH:D008175][accessDate: 05-04-2011]
NEOPL PULM[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Neoplasm, Lung[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Neoplasm, Pulmonary[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Neoplasms, Lung[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Neoplasms, Pulmonary[accessedResource: MSH:D008175][accessDate: 05-04-2011]
PULM NEOPL[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Pulmonary Cancer[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Pulmonary Cancers[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Pulmonary Neoplasm[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Pulmonary Neoplasms[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Tumors or cancer of the LUNG.[accessedResource: MSH:D008175][accessDate: 05-04-2011]
Memory Impairment Adverse Event[accessedResource: NCIt:C55427][accessDate: 05-04-2011]
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).[accessedResource: MSH:D009765][accessDate: 05-04-2011]
Adiposis[accessedResource: SNOMEDCT:414916001][accessDate: 05-04-2011]
Adiposity[accessedResource: SNOMEDCT:414916001][accessDate: 05-04-2011]
An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.
An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.[accessedResource: NIFSTD:nlx_dys_20090302][accessDate: 05-04-2011]
OBESITY NOS[accessedResource: ICD9:278.00][accessDate: 05-04-2011]
Obese (finding)[accessedResource: SNOMEDCT:414915002][accessDate: 05-04-2011]
Obese[accessedResource: SNOMEDCT:414915002][accessDate: 05-04-2011]
Obesity (disorder)[accessedResource: SNOMEDCT:414916001][accessDate: 05-04-2011]
Obesity, unspecified[accessedResource: ICD9:278.00][accessDate: 05-04-2011]
Overweight and obesity[accessedResource: ICD9:278.0][accessDate: 05-04-2011]
Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight.
Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight.[accessedResource: NIFSTD:nlx_dys_20090303][accessDate: 05-04-2011]
Morbid Obesities[accessedResource: MSH:D009767][accessDate: 05-04-2011]
Morbid obesity (disorder)[accessedResource: SNOMEDCT:238136002][accessDate: 05-04-2011]
Obesities, Morbid[accessedResource: MSH:D009767][accessDate: 05-04-2011]
Obesity, Morbid[accessedResource: MSH:D009767][accessDate: 05-04-2011]
Obesity[accessedResource: MSH:D009765][accessDate: 05-04-2011]
Severe obesity[accessedResource: DOID:11981][accessDate: 05-04-2011]
The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2.
The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2.[accessedResource: MSH:D009767][accessDate: 05-04-2011]
morbid[accessedResource: NIFSTD:nlx_dys_20090303][accessDate: 05-04-2011]
Cancer of Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Cancer of the Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Cancer, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Cancer, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Cancers, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Cancers, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011]
NEOPL OVARIAN[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Neoplasm, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Neoplasm, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Neoplasms, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Neoplasms, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011]
OVARIAN NEOPL[accessedResource: MSH:D010051][accessDate: 05-04-2011]
OVARY NEOPL[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Ovarian Cancer[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Ovarian Cancers[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Ovarian Neoplasm[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Ovarian Neoplasms[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Ovary Cancer[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Ovary Cancers[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Ovary Neoplasm[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Ovary Neoplasms[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.[accessedResource: MSH:D010051][accessDate: 05-04-2011]
Bacterial infection due to Pseudomonas (disorder)
Bacterial infection due to Pseudomonas (disorder)[accessedResource: SNOMEDCT:63398001][accessDate: 05-04-2011]
Bacterial infection due to Pseudomonas[accessedResource: SNOMEDCT:63398001][accessDate: 05-04-2011]
Bacterial infectious disease due to Pseudomonas (disorder)
Bacterial infectious disease due to Pseudomonas (disorder)[accessedResource: DOID:2903][accessDate: 05-04-2011]
INFECT PSEUDOMONAS[accessedResource: MSH:D011552][accessDate: 05-04-2011]
Infection, Pseudomonas[accessedResource: MSH:D011552][accessDate: 05-04-2011]
Infections with bacteria of the genus PSEUDOMONAS.
Infections with bacteria of the genus PSEUDOMONAS.[accessedResource: MSH:D011552][accessDate: 05-04-2011]
Infections, Pseudomonas[accessedResource: MSH:D011552][accessDate: 05-04-2011]
PSEUDOMONAS INFECT[accessedResource: MSH:D011552][accessDate: 05-04-2011]
Pseudomonas Infections[accessedResource: MSH:D011552][accessDate: 05-04-2011]
Pseudomonas infectious disease[accessedResource: DOID:2903][accessDate: 05-04-2011]
A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.
Y. Apidianakis, M.N. Mindrinos, W. Xiao, G.W. Lau, R.L. Baldini, R.W. Davis and L.G. Rahme, Profiling early infection responses: Pseudomonas aeruginosa eludes host defenses by suppressing antimicrobial peptide gene expression, Proc. Natl. Acad. Sci. USA 102 (2005), pp. 2573-2578
A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.
Plotnikova, J. M., Rahme, L. G., Ausubel, F. M. (2000). Pathogenesis of the Human Opportunistic Pathogen Pseudomonas aeruginosa PA14 in Arabidopsis. Plant Physiol. 124: 1766-1774
A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.
A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.[accessedResource: DOID:1206][accessDate: 05-04-2011]
A pervasive developmental disorder that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH).
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH).[accessedResource: NIFSTD:birnlex_12770][accessDate: 05-04-2011]
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)[accessedResource: MSH:D015518][accessDate: 05-04-2011]
Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome[accessedResource: MSH:D015518][accessDate: 05-04-2011]
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome[accessedResource: NIFSTD:birnlex_12770][accessDate: 05-04-2011]
Cerebroatrophic Hyperammonemias[accessedResource: MSH:D015518][accessDate: 05-04-2011]
Cerebroatrophic hyperammonaemia[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011]
Cerebroatrophic hyperammonemia[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011]
Hyperammonemia, Cerebroatrophic[accessedResource: MSH:D015518][accessDate: 05-04-2011]
Hyperammonemias, Cerebroatrophic[accessedResource: MSH:D015518][accessDate: 05-04-2011]
RETT DIS[accessedResource: MSH:D015518][accessDate: 05-04-2011]
RETTS DIS[accessedResource: MSH:D015518][accessDate: 05-04-2011]
RTS - Rett syndrome[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011]
Rett disorder[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011]
Rett's Disorder[accessedResource: MSH:D015518][accessDate: 05-04-2011]
Rett's Syndrome[accessedResource: MSH:D015518][accessDate: 05-04-2011]
Rett's disorder (disorder)[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011]
Retts Syndrome[accessedResource: MSH:D015518][accessDate: 05-04-2011]
Syndrome, Rett's[accessedResource: MSH:D015518][accessDate: 05-04-2011]
Syndrome, Rett[accessedResource: MSH:D015518][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_91' instead. New Label : Rett syndrome
A 267b1 ki ras is a cell line. A 267b1 ki ras derives from a prostate.
A BT20 is a cell line. A BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell.
A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444.
A HCC1007 is a cell line. A HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland.
A HeLa is a cell line. A HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from a Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix.
An IMR 32 is a cell line. An IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a neuroblast sensu vertebrata.
A LY2 is a cell line. A LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland.
Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes.
Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes.[accessedResource: BTO:0000093][accessDate: 05-04-2011]
MCF-7 cell[accessedResource: BTO:0000093][accessDate: 05-04-2011]
Was originally considered to be a breast cancer cell line but has since been identified as a melanoma cell line.
A NCI H929 is a cell line. A NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives from a B cell, and something that derives from a bone marrow.
Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid.
Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid.[accessedResource: BTO:0001677][accessDate: 05-04-2011]
SCHNEIDER-2 cell[accessedResource: BTO:0001677][accessDate: 05-04-2011]
A SKBR3 is a cell line. A SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland.
A TERV is a cell line. A TERV derives from a kidney.
A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes.
A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes.[accessedResource: PATO:0000383][accessDate: 05-04-2011]
A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes.
A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes.[accessedResource: PATO:0000384][accessDate: 05-04-2011]
A biological sex quality inhering in an organism or a population with both male and female sexual organs in one individual.
A biological sex quality inhering in an organism or a population with both male and female sexual organs in one individual.[accessedResource: PATO:0001340][accessDate: 05-04-2011]
An organism having both male and female sexual characteristics and organs.
An organism having both male and female sexual characteristics and organs.[accessedResource: NCIt:C45909][accessDate: 05-04-2011]
Hermaphroditism[accessedResource: NCIt:C45909][accessDate: 05-04-2011]
intersex[accessedResource: PATO:0001340][accessDate: 05-04-2011]
A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo.
A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus.
A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus.[accessedResource: PATO:0001345][accessDate: 05-04-2011]
h minus[accessedResource: PATO:0001345][accessDate: 05-04-2011]
mating_type_h_minus[accessedResource: MO_407][accessDate: 05-04-2011]
A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids.
A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids.[accessedResource: PATO:0001344][accessDate: 05-04-2011]
alpha mating type (yeast)[accessedResource: PATO:0001344][accessDate: 05-04-2011]
mating_type_alpha[accessedResource: MO_637][accessDate: 05-04-2011]
A biological sex quality inhering in a population of multiple sexes.
A biological sex quality inhering in a population of multiple sexes.[accessedResource: PATO:0001338][accessDate: 05-04-2011]
The total number of individuals inhabiting a particular region or area.
A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth
A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth[accessedResource: NIFSTD:birnlex_681][accessDate: 05-04-2011]
OntologyMappingImporter following MAT:0000403
adult stage[accessedResource: MAT:0000403][accessDate: 05-04-2011]
Blastula:128-cell[accessedResource: ZFS:0000008][accessDate: 05-04-2011]
Blastula:1k-cell[accessedResource: ZFS:0000011][accessDate: 05-04-2011]
A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating.
A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating.[accessedResource: PATO:0001341][accessDate: 05-04-2011]
a mating type (yeast)[accessedResource: PATO:0001341][accessDate: 05-04-2011]
mating_type_a[accessedResource: MO_659][accessDate: 05-04-2011]
Blastula:256-cell[accessedResource: ZFS:0000009][accessDate: 05-04-2011]
Blastula:30%-epiboly[accessedResource: ZFS:0000016][accessDate: 05-04-2011]
Blastula:512-cell[accessedResource: ZFS:0000010][accessDate: 05-04-2011]
Blastula:Dome[accessedResource: ZFS:0000015][accessDate: 05-04-2011]
Blastula:High[accessedResource: ZFS:0000012][accessDate: 05-04-2011]
Blastula:Oblong[accessedResource: ZFS:0000013][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000108 label: blastula stage
Blastula:Sphere[accessedResource: ZFS:0000014][accessDate: 05-04-2011]
Cleavage:16-cell[accessedResource: ZFS:0000005][accessDate: 05-04-2011]
Cleavage:2-cell[accessedResource: ZFS:0000002][accessDate: 05-04-2011]
Cleavage:32-cell[accessedResource: ZFS:0000006][accessDate: 05-04-2011]
Cleavage:4-cell[accessedResource: ZFS:0000003][accessDate: 05-04-2011]
Cleavage:64-cell[accessedResource: ZFS:0000007][accessDate: 05-04-2011]
Cleavage:8-cell[accessedResource: ZFS:0000004][accessDate: 05-04-2011]
Use http://purl.obolibrry.org/obo/UBERON_0000107 label: cleavage stage
Gastrula:50%-epiboly[accessedResource: ZFS:0000017][accessDate: 05-04-2011]
Gastrula:75%-epiboly[accessedResource: ZFS:0000020][accessDate: 05-04-2011]
Gastrula:90%-epiboly[accessedResource: ZFS:0000021][accessDate: 05-04-2011]
Gastrula:Bud[accessedResource: ZFS:0000022][accessDate: 05-04-2011]
Gastrula:Germ-ring[accessedResource: ZFS:0000018][accessDate: 05-04-2011]
gastrula[accessedResource: MAT:0000063][accessDate: 05-04-2011]
gastrulating mbryo[accessedResource: MAT:0000063][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000109 label: gastrula stage
Gastrula:Shield[accessedResource: ZFS:0000019][accessDate: 05-04-2011]
Hatching:Long-pec[accessedResource: ZFS:0000033][accessDate: 05-04-2011]
Hatching:Pec-fin[accessedResource: ZFS:0000034][accessDate: 05-04-2011]
child[accessedResource: MAT:0000402][accessDate: 05-04-2011]
young adult[accessedResource: MAT:0000402][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000112 label: juvenile stage
Juvenile:Days 30-44[accessedResource: ZFS:0000042][accessDate: 05-04-2011]
Juvenile:Days 45-89[accessedResource: ZFS:0000043][accessDate: 05-04-2011]
tadpole stage[accessedResource: MAT:0000400][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000069 label: larval stage
Larval:Day 4[accessedResource: ZFS:0000036][accessDate: 05-04-2011]
Larval:Day 5[accessedResource: ZFS:0000037][accessDate: 05-04-2011]
Larval:Day 6[accessedResource: ZFS:0000038][accessDate: 05-04-2011]
Larval:Days 14-20[accessedResource: ZFS:0000040][accessDate: 05-04-2011]
Larval:Days 21-29[accessedResource: ZFS:0000041][accessDate: 05-04-2011]
Larval:Days 7-13[accessedResource: ZFS:0000039][accessDate: 05-04-2011]
The pharyngula is a developmental stage in embryonic development which follows the blastula, gastrula and neurula stages.
Use http://purl.obolibrary.org/obo/UBERON_0004707 label: pharyngula stage
Pharyngula:High-pec[accessedResource: ZFS:0000032][accessDate: 05-04-2011]
Pharyngula:Prim-15[accessedResource: ZFS:0000030][accessDate: 05-04-2011]
Pharyngula:Prim-25[accessedResource: ZFS:0000031][accessDate: 05-04-2011]
Pharyngula:Prim-5[accessedResource: ZFS:0000029][accessDate: 05-04-2011]
Segmentation:1-4 somites[accessedResource: ZFS:0000023][accessDate: 05-04-2011]
Segmentation:5-9 somites[accessedResource: ZFS:0000024][accessDate: 05-04-2011]
Segmentation:10-13 somites[accessedResource: ZFS:0000025][accessDate: 05-04-2011]
Segmentation:14-19 somites[accessedResource: ZFS:0000026][accessDate: 05-04-2011]
Segmentation:20-25 somites[accessedResource: ZFS:0000027][accessDate: 05-04-2011]
Segmentation:26+ somites[accessedResource: ZFS:0000028][accessDate: 05-04-2011]
Kupffer's vesicle[accessedResource: ZFA:0000001][accessDate: 05-04-2011]
Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node.
Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node.[accessedResource: ZFA:0000001][accessDate: 05-04-2011]
embryo late (growth) stage[accessedResource: MAT:0000399][accessDate: 05-04-2011]
Strain or line specific to Drosophila melanogaster
consolodation of strain with taxon, all subclasses moved to Drosophila melanogaster
SALK_049497 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4652085
A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000646.html
B6.Cg-Tg(SOD1-G93A)1Gur/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004435.html
C3H/HeJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000659.html
A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000664.html
The portion of the small intestine that extends from the duodenum to the ileum.
The portion of the small intestine that extends from the duodenum to the ileum.[accessedResource: NCIt:C12388][accessDate: 05-04-2011]
The section of the small intestine that comprises the first two fifths beyond the duodenum and that is larger, thicker-walled, and more vascular and has more circular folds than the ileum.
The section of the small intestine that comprises the first two fifths beyond the duodenum and that is larger, thicker-walled, and more vascular and has more circular folds than the ileum.[accessedResource: BTO:0000657][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002115 label: jejunum
The final section of the small intestine.
The final section of the small intestine.[accessedResource: NCIt:C12387][accessDate: 05-04-2011]
The last division of the small intestine extending between the jejunum and large intestine.
The last division of the small intestine extending between the jejunum and large intestine.[accessedResource: BTO:0000620][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002116 label: ileum
A disease of or relating to the manner that an organism conducts itself involving action and response to stimulation or the response of an individual, group, or species to its environment.
CBA/CaJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000654.html
A mouse strain developed by selection for diabetes (high fasting blood glucose) from F6 of the CTS strain
BDC2.5/NOD is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004460.html
TBP-71Q-16 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008216.html
CB6F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100007.html
B6C3F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100010.html
TBP-105Q is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008075.html
Rats, Sprague Dawley[accessedResource: NIFSTD:birnlex_266][accessDate: 05-04-2011]
Sprague-Dawley rat[accessedResource: NIFSTD:birnlex_266][accessDate: 05-04-2011]
Sprague-Dawley rats[accessedResource: NIFSTD:birnlex_266][accessDate: 05-04-2011]
SALK_037727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4640315
Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists.
Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.
A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH).
A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH).[accessedResource: NIFSTD:birnlex_12679][accessDate: 05-04-2011]
A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event.
A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event.[accessedResource: MSH:D013313][accessDate: 05-04-2011]
ACUTE POST TRAUMATIC STRESS DIS[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Acute Post Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Acute Post-Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011]
An anxiety disease which results from a traumatic experience that results in psychological trauma.
An anxiety disease which results from a traumatic experience that results in psychological trauma.[accessedResource: DOID:2055][accessDate: 05-04-2011]
An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.
An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.[accessedResource: NCIt:C3389][accessDate: 05-04-2011]
CHRONIC POST TRAUMATIC STRESS DIS[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Chronic Post Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Chronic Post-Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011]
DELAYED ONSET POST TRAUMATIC STRESS DIS[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Delayed Onset Post Traumatic Stress Disorder
Delayed Onset Post Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Delayed Onset Post-Traumatic Stress Disorder
Delayed Onset Post-Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Neuroses, Post Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Neuroses, Post-Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Neuroses, Posttraumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
POST TRAUMATIC STRESS DIS[accessedResource: MSH:D013313][accessDate: 05-04-2011]
POSTTRAUMATIC STRESS DISORDERS[accessedResource: MSH:D013313][accessDate: 05-04-2011]
POSTTRAUMATIC STRESS DIS[accessedResource: ICD9:309.81][accessDate: 05-04-2011]
PTSD - Post-traumatic stress disorder[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011]
PTSD[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Post Traumatic Stress Disorders[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Post-Traumatic Neuroses[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Post-Traumatic Neurosis[accessedResource: NIFSTD:birnlex_12679][accessDate: 05-04-2011]
Post-Traumatic Stress Disorders[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Post-traumatic stress syndrome[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011]
Posttraumatic Neuroses[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Posttraumatic stress disorder (disorder)
Posttraumatic stress disorder (disorder)[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011]
Posttraumatic stress disorder, NOS[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011]
Posttraumatic stress disorder[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011]
STRESS DIS POST TRAUMATIC[accessedResource: MSH:D013313][accessDate: 05-04-2011]
STRESS DIS POSTTRAUMATIC[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Stress Disorder, Post Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Stress Disorder, Post-Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Stress Disorder, Posttraumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Stress Disorders, Post Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Stress Disorders, Post-Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
Stress Disorders, Posttraumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011]
disorder, post-traumatic stress[accessedResource: NCIt:C3389][accessDate: 05-04-2011]
post-traumatic stress disease[accessedResource: DOID:2055][accessDate: 05-04-2011]
traumatic neurosis[accessedResource: DOID:2055][accessDate: 05-04-2011]
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.[accessedResource: MSH:D003922][accessDate: 05-04-2011]
An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas.
An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas.[accessedResource: DOID:9744][accessDate: 05-04-2011]
Autoimmune Diabete[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Autoimmune Diabetes[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Brittle Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011]
DIABETES MELLITUS TYPE 01[accessedResource: MSH:D003922][accessDate: 05-04-2011]
DMI UNSPF NT ST UNCNTRLD[accessedResource: ICD9:250.91][accessDate: 05-04-2011]
DMI UNSPF UNCNTRLD[accessedResource: ICD9:250.93][accessDate: 05-04-2011]
Diabete, Autoimmune[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Brittle[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Insulin Dependent[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Insulin-Dependent[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Juvenile Onset[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Juvenile-Onset[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Ketosis Prone[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Ketosis-Prone[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Sudden Onset[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Sudden-Onset[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Type 1[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes Mellitus, Type I[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.[accessedResource: NCIt:C2986][accessDate: 05-04-2011]
Diabetes mellitus type 1 (disorder)[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011]
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with unspecified complication
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with unspecified complication[accessedResource: ICD9:250.91][accessDate: 05-04-2011]
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], uncontrolled, with unspecified complication
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], uncontrolled, with unspecified complication[accessedResource: ICD9:250.93][accessDate: 05-04-2011]
Diabetes mellitus type I[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011]
Diabetes, Autoimmune[accessedResource: MSH:D003922][accessDate: 05-04-2011]
IDDM - Insulin-dependent diabetes mellitus
IDDM - Insulin-dependent diabetes mellitus[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011]
IDDM[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011]
Insulin Dependent Diabetes[accessedResource: NCIt:C2986][accessDate: 05-04-2011]
Insulin dependent diabetes mellitus[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011]
Insulin-Dependent Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Juvenile Diabetes[accessedResource: NCIt:C2986][accessDate: 05-04-2011]
Juvenile onset diabetes mellitus[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011]
Juvenile-Onset Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Ketosis-Prone Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Mellitus, Sudden-Onset Diabetes[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Sudden-Onset Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011]
Type 1 Diabetes Mellitus[accessedResource: NCIt:C2986][accessDate: 05-04-2011]
Type 1 Diabetes[accessedResource: NCIt:C2986][accessDate: 05-04-2011]
Type I Diabetes[accessedResource: NCIt:C2986][accessDate: 05-04-2011]
diabetes mellitus type 1[accessedResource: DOID:9744][accessDate: 05-04-2011]
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.[accessedResource: MSH:D003924][accessDate: 05-04-2011]
A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.
A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
Adult-Onset Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Adult-Onset Diabetes[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
DIABETES MELLITUS TYPE 02[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Adult Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Adult-Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Ketosis Resistant[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Ketosis-Resistant[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Maturity Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Maturity-Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Non Insulin Dependent
Diabetes Mellitus, Non Insulin Dependent[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Noninsulin Dependent[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Slow Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Slow-Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Stable[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Type 2[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes Mellitus, Type II[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Diabetes, Type 2[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
Ketosis-Resistant Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011]
MODY[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Maturity Onset Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Maturity-Onset Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011]
NIDDM[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Non-Insulin Dependent Diabetes Mellitus[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
Non-Insulin Dependent Diabetes[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
Slow-Onset Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011]
Stable Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011]
T2DM - Type 2 Diabetes mellitus[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
Type 2 Diabetes Mellitus Non-Insulin Dependent
Type 2 Diabetes Mellitus Non-Insulin Dependent[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
Type 2 Diabetes Mellitus[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
Type 2 Diabetes[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
Type II Diabetes[accessedResource: NCIt:C26747][accessDate: 05-04-2011]
diabetes mellitus type 2[accessedResource: DOID:9352][accessDate: 05-04-2011]
non-insulin-dependent diabetes mellitus[accessedResource: DOID:9352][accessDate: 05-04-2011]
A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA.
A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA.[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Ayerza Arrilaga Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Ayerza Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Ayerza's Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Ayerza-Arrilaga Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Ayerzas Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011]
HYPERTENSION PULM[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Hypertension, Pulmonary[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.
Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.[accessedResource: MSH:D006976][accessDate: 05-04-2011]
PHT - Pulmonary hypertension[accessedResource: SNOMEDCT:70995007][accessDate: 05-04-2011]
PULM HYPERTENSION[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Pulmonary hypertension (disorder)[accessedResource: SNOMEDCT:70995007][accessDate: 05-04-2011]
Pulmonary hypertension, NOS[accessedResource: SNOMEDCT:70995007][accessDate: 05-04-2011]
Syndrome, Ayerza-Arrilaga[accessedResource: MSH:D006976][accessDate: 05-04-2011]
Syndrome, Ayerza[accessedResource: MSH:D006976][accessDate: 05-04-2011]
obsolete_pulmonary arterial hypertension
Increased pressure within the pulmonary circulation due to lung or heart disorder.
duplicate of pulmonary hypertension EFO_0001361
The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea.
The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea.[accessedResource: BTO:0000630][accessDate: 05-04-2011]
inner ear[accessedResource: BTO:0000630][accessDate: 05-04-2011]
Spiral Organ of Corti[accessedResource: NCIt:C33223][accessDate: 05-04-2011]
The organ, resting on the basilar membrane in the cochlear duct, that contains the special sensory receptors for hearing; it consists of neuroepithelial hair cells and several types of supporting cells, including the inner and outer pillar cells, inner and outer phalangeal cells, border cells, and Hensen's cells.
The organ, resting on the basilar membrane in the cochlear duct, that contains the special sensory receptors for hearing; it consists of neuroepithelial hair cells and several types of supporting cells, including the inner and outer pillar cells, inner and outer phalangeal cells, border cells, and Hensen's cells.[accessedResource: BTO:0001691][accessDate: 05-04-2011]
spiral organ[accessedResource: BTO:0001691][accessDate: 05-04-2011]
AAMD - Age related macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011]
AGE RELAT MACULOPATHIES[accessedResource: MSH:D008268][accessDate: 05-04-2011]
AGE RELAT MACULOPATHY[accessedResource: MSH:D008268][accessDate: 05-04-2011]
AMD - Age-related macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011]
ARMD - Age-related macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011]
Age Related Maculopathies[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Age related macular degeneration (disorder) [Ambiguous]
Age related macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011]
Age related maculopathy[accessedResource: NIFSTD:birnlex_12812][accessDate: 05-04-2011]
Age-Related Macular Degenerations[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Age-Related Maculopathies[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Age-Related Maculopathy[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Age-related macular degeneration (disorder)
Age-related macular degeneration (disorder)[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011]
Degeneration, Age-Related Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Degeneration, Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Degenerations, Age-Related Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Degenerations, Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.
Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Degenerative changes in the macula lutea of the retina.
Dystrophies, Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Dystrophy, Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011]
MACULAR DEGENERATION NOS[accessedResource: ICD9:362.50][accessDate: 05-04-2011]
MACULOPATHIES AGE RELAT[accessedResource: MSH:D008268][accessDate: 05-04-2011]
MACULOPATHY AGE RELAT[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Macular Degeneration, Age-Related[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Macular Degeneration[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Macular Degenerations, Age-Related[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Macular Degenerations[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Macular Dystrophies[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Macular Dystrophy[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Macular degeneration (disorder)[accessedResource: SNOMEDCT:302891003][accessDate: 05-04-2011]
Macular degeneration (senile) of retina, unspecified
Macular degeneration (senile) of retina, unspecified[accessedResource: ICD9:362.50][accessDate: 05-04-2011]
Maculopathies, Age Related[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Maculopathies, Age-Related[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Maculopathy, Age Related[accessedResource: MSH:D008268][accessDate: 05-04-2011]
Maculopathy, Age-Related[accessedResource: MSH:D008268][accessDate: 05-04-2011]
SMD - Senile macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011]
Senile macular degeneration of retina[accessedResource: NIFSTD:birnlex_12812][accessDate: 05-04-2011]
Senile macular degeneration[accessedResource: NIFSTD:birnlex_12812][accessDate: 05-04-2011]
Senile macular retinal degeneration[accessedResource: SNOMEDCT:302891003][accessDate: 05-04-2011]
A serrated strip of gray matter under the medial border of the hippocampus and in its depths; it is an archaeocortex which develops along the edge of the hippocampal fissure and which consists of molecular, granular, and polymorphic layers.
A serrated strip of gray matter under the medial border of the hippocampus and in its depths; it is an archaeocortex which develops along the edge of the hippocampal fissure and which consists of molecular, granular, and polymorphic layers.[accessedResource: BTO:0002496][accessDate: 05-04-2011]
Part of the hippocampal formation forming a "V" or "U" shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer.
Part of the hippocampal formation forming a "V" or "U" shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer.[accessedResource: NIFSTD:birnlex_1178][accessDate: 05-04-2011]
fascia dentata[accessedResource: NIFSTD:birnlex_1178][accessDate: 05-04-2011]
hippocampus[accessedResource: MAT:0000114][accessDate: 05-04-2011]
Embryologic[accessedResource: NCIt:C28147][accessDate: 05-04-2011]
An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination.
A muscle located between two ribs.[accessedResource: NCIt:C32824][accessDate: 05-04-2011]
Respiratory Muscles[accessedResource: NCIt:C32824][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001111 label: intercostal muscle
Backbone[accessedResource: FMAID:13478][accessDate: 05-04-2011]
Spinal column[accessedResource: FMAID:13478][accessDate: 05-04-2011]
Spine[accessedResource: FMAID:13478][accessDate: 05-04-2011]
Vertebral column[accessedResource: FMAID:13478][accessDate: 05-04-2011]
axial skeleton[accessedResource: TAO:0000317][accessDate: 05-04-2011]
postcranial axial skeleton[accessedResource: TAO:0000317][accessDate: 05-04-2011]
Intervertebral disk[accessedResource: FMA:10446][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001066 label: intervertebral disk
Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum
Use http://purl.obolibrary.org/obo/UBERON_0002412 label: vertebra
An infant during the first month after birth.
An infant during the first month after birth.[accessedResource: NCIt:C16731][accessDate: 05-04-2011]
NEWBORN (0-27 DAYS)[accessedResource: NCIt:C16731][accessDate: 05-04-2011]
Neonatal[accessedResource: NCIt:C16731][accessDate: 05-04-2011]
Newborn[accessedResource: NIFSTD:birnlex_429][accessDate: 05-04-2011]
Precentral convolution[accessedResource: FMA:61894][accessDate: 05-04-2011]
Prerolandic gyrus[accessedResource: FMA:61894][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002703 label: precentral gyrus
A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)
A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)[accessedResource: MSH:D013584][accessDate: 05-04-2011]
A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11). It can occur at any age, but mainly affects young adults, more commonly males. Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee. Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components). Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes.
A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11). It can occur at any age, but mainly affects young adults, more commonly males. Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee. Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components). Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes.[accessedResource: NCIt:C3400][accessDate: 05-04-2011]
Malignant synovioma[accessedResource: SNOMEDCT:302851001][accessDate: 05-04-2011]
SS[accessedResource: NCIt:C3400][accessDate: 05-04-2011]
Sarcoma, Synovial[accessedResource: MSH:D013584][accessDate: 05-04-2011]
Sarcomas, Synovial[accessedResource: MSH:D013584][accessDate: 05-04-2011]
Synovial Sarcomas[accessedResource: MSH:D013584][accessDate: 05-04-2011]
Synovial sarcoma (disorder)[accessedResource: DOID:5485][accessDate: 05-04-2011]
Synovial sarcoma (morphologic abnormality)
Synovial sarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011]
Synovial sarcoma, NOS[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011]
Synovioma, NOS[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011]
Synovioma, malignant[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011]
Synovioma[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011]
Synoviomas[accessedResource: MSH:D013584][accessDate: 05-04-2011]
[M]Synovial sarcoma NOS[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011]
[M]Synovioma NOS[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011]
A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)
A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)[accessedResource: NCIt:C3242][accessDate: 05-04-2011]
A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.
A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.[accessedResource: MSH:D009101][accessDate: 05-04-2011]
A myeloma that is located_in the plasma cells in bone marrow.
A myeloma that is located_in the plasma cells in bone marrow.[accessedResource: DOID:9538][accessDate: 05-04-2011]
Cell Myeloma, Plasma[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Cell Myelomas, Plasma[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Disease, Kahler[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Kahler disease[accessedResource: NCIt:C3242][accessDate: 05-04-2011]
Kahler's disease[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011]
MULT MYE W/O ACHV RMSON[accessedResource: ICD9:203.00][accessDate: 05-04-2011]
Multiple Myelomas[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Multiple myeloma (clinical)[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011]
Multiple myeloma (disorder)[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011]
Multiple myeloma without mention of having achieved remission
Multiple myeloma without mention of having achieved remission[accessedResource: ICD9:203.00][accessDate: 05-04-2011]
Multiple myeloma without mention of remission
Multiple myeloma, morphology (morphologic abnormality)
Multiple myeloma, morphology (morphologic abnormality)[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011]
Multiple myeloma, no ICD-O subtype (morphologic abnormality)
Multiple myeloma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011]
Multiple myeloma, no ICD-O subtype[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011]
Myeloma Multiple[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myeloma, Multiple[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myeloma, NOS[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011]
Myeloma, Plasma Cell[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myeloma, Plasma-Cell[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myeloma-Multiple[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myeloma-Multiples[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myeloma[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011]
Myelomas, Multiple[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myelomas, Plasma Cell[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myelomas, Plasma-Cell[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myelomatoses[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Myelomatosis[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011]
Plasma Cell Myeloma[accessedResource: NCIt:C3242][accessDate: 05-04-2011]
Plasma Cell Myelomas[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Plasma-Cell Myeloma[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Plasma-Cell Myelomas[accessedResource: MSH:D009101][accessDate: 05-04-2011]
Plasmacytic myeloma[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011]
[M]Plasma cell myeloma[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011]
Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs.
Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs.[accessedResource: NCIt:C3009][accessDate: 05-04-2011]
DIS ENDOCRINE SYSTEM[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Disease of endocrine gland[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011]
Disease, Endocrine System[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Disease, Endocrine[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Diseases of Endocrine System[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Diseases, Endocrine System[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Diseases, Endocrine[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Disorder of endocrine gland[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011]
Disorder of endocrine system (disorder)[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011]
Disorder of endocrine system[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011]
ENDOCRINE DISORDERS[accessedResource: NCIt:C3009][accessDate: 05-04-2011]
ENDOCRINE DIS[accessedResource: MSH:D004700][accessDate: 05-04-2011]
ENDOCRINE SYSTEM DIS[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Endocrine Disease[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Endocrine Diseases and Manifestations[accessedResource: NCIt:C3009][accessDate: 05-04-2011]
Endocrine Diseases[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Endocrine System Diseases[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Endocrine disorder NOS (disorder)[accessedResource: SNOMEDCT:190594008][accessDate: 05-04-2011]
Endocrine disorder NOS[accessedResource: SNOMEDCT:190594008][accessDate: 05-04-2011]
Endocrine disorder[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011]
Endocrine disturbance NOS (disorder)[accessedResource: SNOMEDCT:267489000][accessDate: 05-04-2011]
Endocrine disturbance NOS[accessedResource: SNOMEDCT:267489000][accessDate: 05-04-2011]
Endocrine disturbance[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011]
Endocrine gland disease NOS (disorder)[accessedResource: SNOMEDCT:267475005][accessDate: 05-04-2011]
Endocrine gland disease NOS[accessedResource: SNOMEDCT:267475005][accessDate: 05-04-2011]
Endocrinopathy[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011]
Hormone abnormality (finding)[accessedResource: SNOMEDCT:84452004][accessDate: 05-04-2011]
Hormone abnormality[accessedResource: SNOMEDCT:84452004][accessDate: 05-04-2011]
Hormone disturbance[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011]
Non-Neoplastic Endocrine Disorder[accessedResource: NCIt:C27565][accessDate: 05-04-2011]
Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.
Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.[accessedResource: MSH:D004700][accessDate: 05-04-2011]
System Disease, Endocrine[accessedResource: MSH:D004700][accessDate: 05-04-2011]
System Diseases, Endocrine[accessedResource: MSH:D004700][accessDate: 05-04-2011]
Unspecified endocrine disorder[accessedResource: ICD9:259.9][accessDate: 05-04-2011]
A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.
A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.[accessedResource: NCIt:C62591][accessDate: 05-04-2011]
ADENOHYPOPHYSEAL HYPOSECRET[accessedResource: MSH:D007018][accessDate: 05-04-2011]
ANTERIOR PITUITARY HYPOSECRET SYNDROME[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Adenohypophyseal Hyposecretion[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Anterior Pituitary Hyposecretion Syndrome
Anterior Pituitary Hyposecretion Syndrome[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Deficient secretion of one OR more pituitary hormones
Deficient secretion of one or more pituitary hormones[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011]
Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.
Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Disease, Simmonds[accessedResource: MSH:D007018][accessDate: 05-04-2011]
HYPOSECRET ADENOHYPOPHYSEAL[accessedResource: MSH:D007018][accessDate: 05-04-2011]
HYPOSECRET SYNDROME ANTERIOR PITUITARY[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Hypopituitarism (disorder)[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011]
Hypopituitarism NOS (disorder)[accessedResource: SNOMEDCT:237681002][accessDate: 05-04-2011]
Hypopituitarism NOS[accessedResource: SNOMEDCT:237681002][accessDate: 05-04-2011]
Hypopituitarism, NOS[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011]
Hypopituitarism, Postpartum[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism]
Hyposecretion Syndrome, Anterior Pituitary
Hyposecretion Syndrome, Anterior Pituitary[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Hyposecretion, Adenohypophyseal[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Insufficiency, Pituitary[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Panhypopituitarism, Postpartum[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Panhypopituitarism[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Pituitary Insufficiency, Postpartum[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Pituitary Insufficiency[accessedResource: NCIt:C62591][accessDate: 05-04-2011]
Pituitary deficiency[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011]
Pituitary failure[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011]
Pituitary hypofunction[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011]
Pituitary insufficiency NOS[accessedResource: DOID:9406][accessDate: 05-04-2011]
Pituitary insufficiency, NOS[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011]
Postpartum Hypopituitarism[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Postpartum Panhypopituitarism[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Postpartum Pituitary Insufficiency[accessedResource: MSH:D007018][accessDate: 05-04-2011]
SIMMONDS DIS[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Sheehan Syndrome[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Sheehan's Syndrome[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Sheehans Syndrome[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Simmond's Disease[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Simmonds Disease[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Simmonds' Disease[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Syndrome, Sheehan's[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Syndrome, Sheehan[accessedResource: MSH:D007018][accessDate: 05-04-2011]
Any of numerous large oval patches of closely aggregated nodules of lymphoid tissue in the walls of the small intestine esp. in the ileum that partially or entirely disappear in advanced life and in typhoid fever become the seat of ulcers which may perforate the intestines.
Any of numerous large oval patches of closely aggregated nodules of lymphoid tissue in the walls of the small intestine especially in the ileum that partially or entirely disappear in advanced life and in typhoid fever become the seat of ulcers which may perforate the intestines.
Any of numerous large oval patches of closely aggregated nodules of lymphoid tissue in the walls of the small intestine especially in the ileum that partially or entirely disappear in advanced life and in typhoid fever become the seat of ulcers which may perforate the intestines.[accessedResource: BTO:0001784][accessDate: 05-04-2011]
Peyer's gland[accessedResource: BTO:0001784][accessDate: 05-04-2011]
Peyers Patch (MMHCC)[accessedResource: NCIt:C22562][accessDate: 05-04-2011]
Use: http://purl.obolibrary.org/obo/UBERON_0001211 label : Peyer's patch
The process of sexual maturation mediated by the neuroendocrine system in mammals.
Postcentral convolution[accessedResource: FMA:61896][accessDate: 05-04-2011]
Posterior central gyrus[accessedResource: FMA:61896][accessDate: 05-04-2011]
Postrolandic gyrus[accessedResource: FMA:61896][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002581 label: postcentral gyrus
Prefrontal association cortex[accessedResource: FMAID:224850][accessDate: 05-04-2011]
The prefrontal cortex is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.
The prefrontal cortex is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.[accessedResource: BTO:0002807][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000451 label: prefrontal cortex
Tibialis anterior[accessedResource: FMA:22532][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001385 label: tibialis anterior
Palatine Uvula[accessedResource: NCIt:C12232][accessDate: 05-04-2011]
The fleshy lobe that hangs at the back of the soft palate.
The fleshy lobe that hangs at the back of the soft palate.[accessedResource: NCIt:C12232][accessDate: 05-04-2011]
Uvula of palate[accessedResource: FMA:55022][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001734 label: uvula
One of the three chief, paired salivary glands, predominantly serous, lying partly above and partly below the posterior half of the base of the mandible.
One of the three chief, paired salivary glands, predominantly serous, lying partly above and partly below the posterior half of the base of the mandible.[accessedResource: BTO:0001316][accessDate: 05-04-2011]
One of two salivary glands in the neck, located in the space bound by the two bellies of the digastric muscle and the angle of the mandible. It discharges through the submandibular duct. (MeSH)
One of two salivary glands in the neck, located in the space bound by the two bellies of the digastric muscle and the angle of the mandible. It discharges through the submandibular duct. (MeSH)[accessedResource: NCIt:C12233][accessDate: 05-04-2011]
Submaxillary Gland[accessedResource: NCIt:C12233][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001736 label: submandibular gland
The lower part of the pharynx that connects to the esophagus.
The lower part of the pharynx that connects to the esophagus.[accessedResource: NCIt:C12246][accessDate: 05-04-2011]
The portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus.
The portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus.[accessedResource: BTO:0001740][accessDate: 05-04-2011]
hypopharynx[accessedResource: BTO:0001740][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001051 label: hypopharynx
An acinous gland that is about the size and shape of an almond, secretes tears, and is situated laterally and superiorly to the bulb of the eye in a shallow depression on the inner surface of the frontal bone.
An acinous gland that is about the size and shape of an almond, secretes tears, and is situated laterally and superiorly to the bulb of the eye in a shallow depression on the inner surface of the frontal bone.[accessedResource: BTO:0000044][accessDate: 05-04-2011]
Paired, almond-shaped exocrine glands situated superior and posterior to each orbit of the eye that produce and secrete the watery serous component of tears.
Paired, almond-shaped exocrine glands situated superior and posterior to each orbit of the eye that produce and secrete the watery serous component of tears.[accessedResource: NCIt:C12346][accessDate: 05-04-2011]
tear gland[accessedResource: BTO:0000044][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001817 label: lacrimal gland
A white matter structure within the cleft that separates the left and right cerebral hemispheres in the mammalian brain. It is composed of a wide, flat bundle of 200-250 million axonal projections.
A white matter structure within the cleft that separates the left and right cerebral hemispheres in the mammalian brain. It is composed of a wide, flat bundle of 200-250 million axonal projections.[accessedResource: NCIt:C12446][accessDate: 05-04-2011]
The great band of commissural fibers uniting the cerebral hemispheres of higher mammals including humans.
The great band of commissural fibers uniting the cerebral hemispheres of higher mammals including humans.[accessedResource: BTO:0000615][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002336 label: corpus callosum
Use http://purl.obolibrary.org/obo/UBERON_0008930 label: somatosensory cortex
A biconvex mass of gray matter on the medial side of the junction of the internal capsule and the crus cerebri; its chief connections are with the globus pallidus.
A biconvex mass of gray matter on the medial side of the junction of the internal capsule and the crus cerebri; its chief connections are with the globus pallidus.[accessedResource: BTO:0002252][accessDate: 05-04-2011]
Lens-shaped structure on the inner aspect of the internal capsule. The subthalamic nucleus and pathways traversing this region are concerned with the integration of somatic motor function. (MeSH)
Lens-shaped structure on the inner aspect of the internal capsule. The subthalamic nucleus and pathways traversing this region are concerned with the integration of somatic motor function. (MeSH)[accessedResource: NCIt:C12454][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001906 label: subthalamic nucleus
Synovium[accessedResource: NCIt:C12473][accessDate: 05-04-2011]
The inner layer of the connective tissue that seals the joint.
The inner layer of the connective tissue that seals the joint.[accessedResource: NCIt:C12473][accessDate: 05-04-2011]
The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)
A broad mass of chiefly transverse nerve fibers conspicuous on the ventral surface of the brain of man and lower mammals at the anterior end of the medulla oblongata.
A broad mass of chiefly transverse nerve fibers conspicuous on the ventral surface of the brain of man and lower mammals at the anterior end of the medulla oblongata.[accessedResource: BTO:0001101][accessDate: 05-04-2011]
Pons Cerebelli[accessedResource: NCIt: C12511][accessDate: 05-04-2011]
Pons Varolii[accessedResource: NCIt: C12511][accessDate: 05-04-2011]
The middle portion of the brainstem located between the midbrain and the medulla oblongata. The fourth ventricle lies dorsal to the pons which also contains the motor trigeminal nuclei and the abducens nuclei. The cerebellum contributes a large number of afferent fibers to the pons.
The middle portion of the brainstem located between the midbrain and the medulla oblongata. The fourth ventricle lies dorsal to the pons which also contains the motor trigeminal nuclei and the abducens nuclei. The cerebellum contributes a large number of afferent fibers to the pons.[accessedResource: NCIt: C12511][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000988 label: pons
Armpit[accessedResource: NCIt:C12674][accessDate: 05-04-2011]
The underside concavity where the arm and the shoulder are joined.
The underside concavity where the arm and the shoulder are joined.[accessedResource: NCIt:C12674][accessDate: 05-04-2011]
Underarm[accessedResource: NCIt:C12674][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0009472 label: axilla
Femoral[accessedResource: NCIt:C12717][accessDate: 05-04-2011]
The bone that extends from the pelvis to the knee, being the longest and largest bone in the body; its head articulates with the acetabulum of the hip bone, and distally, the femur, along with the patella and tibia, forms the knee joint.
The bone that extends from the pelvis to the knee, being the longest and largest bone in the body; its head articulates with the acetabulum of the hip bone, and distally, the femur, along with the patella and tibia, forms the knee joint.[accessedResource: BTO:0001284][accessDate: 05-04-2011]
The upper leg bone positioned between the pelvis and the knee.
The upper leg bone positioned between the pelvis and the knee.[accessedResource: NCIt:C12717][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000981 label: femur
Groin[accessedResource: NCIt:C12726][accessDate: 05-04-2011]
Inguinal[accessedResource: NCIt:C12726][accessDate: 05-04-2011]
The lower region of the anterior abdominal wall located laterally to the pubic region.
The lower region of the anterior abdominal wall located laterally to the pubic region.[accessedResource: NCIt:C12726][accessDate: 05-04-2011]
The upper arm bone between the shoulder and elbow.
The upper arm bone between the shoulder and elbow.[accessedResource: NCIt:C12731][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000976 label: humerus
An artery arising from the right ventricle of the heart that carries deoxygenated blood to the lungs.
An artery arising from the right ventricle of the heart that carries deoxygenated blood to the lungs.[accessedResource: NCIt:C12774][accessDate: 05-04-2011]
An artery that conveys venous blood from the heart to the lungs.
An artery that conveys venous blood from the heart to the lungs.[accessedResource: BTO:0000778][accessDate: 05-04-2011]
Pulmonary Trunk[accessedResource: NCIt:C12774][accessDate: 05-04-2011]
Use: http://purl.obolibrary.org/obo/UBERON_0002012 label: pulmonary artery
Either of a pair of large triangular bones lying one in each dorsal lateral scapula: part of the thorax, being the principal bone of the corresponding half of the shoulder girdle, and articulating with the corresponding clavicle or coracoid.
Either of a pair of large triangular bones lying one in each dorsal lateral scapula: part of the thorax, being the principal bone of the corresponding half of the shoulder girdle, and articulating with the corresponding clavicle or coracoid.[accessedResource: BTO:0001218][accessDate: 05-04-2011]
Shoulder Blade[accessedResource: NCIt:C12783][accessDate: 05-04-2011]
The flat triangle-shaped bone that connects the humerus with the clavicle in the back of the shoulder.
The flat triangle-shaped bone that connects the humerus with the clavicle in the back of the shoulder.[accessedResource: NCIt:C12783][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001124 label: pectoral limb scapula
Either of a pair of prominent masses of lymphoid tissue that lie one on each side of the throat between the anterior and posterior pillars of the fauces.
The human palatine tonsils and the nasopharyngeal tonsil are lymphoepithelial tissues located in strategic areas of the oropharynx and nasopharynx, although most commonly, the term tonsils refers to the palatine tonsils that can be seen in the back of the throat.
The human palatine tonsils and the nasopharyngeal tonsil are lymphoepithelial tissues located in strategic areas of the oropharynx and nasopharynx, although most commonly, the term tonsils refers to the palatine tonsils that can be seen in the back of the throat.[accessedResource: BTO:0001387][accessDate: 05-04-2011]
The two organs situated in the throat on either side of the narrow passage from the mouth to the pharynx. They are composed of lymphoid tissues.
The two organs situated in the throat on either side of the narrow passage from the mouth to the pharynx. They are composed of lymphoid tissues.[accessedResource: NCIt:C12802][accessDate: 05-04-2011]
Tonsils[accessedResource: NCIt:C12802][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002372 label: tonsil
Cranial Nerve V[accessedResource: NCIt:C12806][accessDate: 05-04-2011]
Either of the fifth pair of cranial nerves, having sensory and motor functions in the face, teeth, mouth, and nasal cavity.
Either of the fifth pair of cranial nerves, having sensory and motor functions in the face, teeth, mouth, and nasal cavity.[accessedResource: BTO:0001072][accessDate: 05-04-2011]
Fifth Cranial Nerve[accessedResource: NCIt:C12806][accessDate: 05-04-2011]
Nervus Trigeminus[accessedResource: NCIt:C12806][accessDate: 05-04-2011]
The fifth set of paired nerves of the face that emerge from the brain steam. These nerves have sensory and motor functions in the face, oral cavity, and nasal cavity.
The fifth set of paired nerves of the face that emerge from the brain steam. These nerves have sensory and motor functions in the face, oral cavity, and nasal cavity.[accessedResource: NCIt:C12806][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001645 label: trigeminal nerve
Corneoscleral Limbus[accessedResource: NCIt:C12823][accessDate: 05-04-2011]
Corneoscleral junction[accessedResource: FMA:58342][accessDate: 05-04-2011]
Limbus of cornea[accessedResource: FMA:58342][accessDate: 05-04-2011]
Sclerocorneal junction[accessedResource: FMA:58342][accessDate: 05-04-2011]
One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop.
One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop.[accessedResource: BTO:0001235][accessDate: 05-04-2011]
seminiferous tubule[accessedResource: BTO:0001235][accessDate: 05-04-2011]
Back of body proper[accessedResource: FMAID:14181][accessDate: 05-04-2011]
The back; especially : the entire dorsal surface of an animal.
The back; especially : the entire dorsal surface of an animal.[accessedResource: BTO:0001713][accessDate: 05-04-2011]
The dorsal area between the base of the neck and the sacrum.
The dorsal area between the base of the neck and the sacrum.[accessedResource: NCIt:C13062][accessDate: 05-04-2011]
dorsum[accessedResource: BTO:0001713][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001137 label: dorsum
Anatomical structure that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo.
Anatomical structure that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo.[accessedResource: ZFA:0000020][accessDate: 05-04-2011]
extraembryonic structure[accessedResource: ZFA:0000020][accessDate: 05-04-2011]
extraembryonic structures[accessedResource: ZFA:0000020][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005292 label: extraembryonic tissue
The vascular organ in mammals except monotremes and marsupials that unites the fetus to the maternal uterus and mediates its metabolic exchanges through a more or less intimate association of uterine mucosal with chorionic and usually allantoic tissues; also: an analogous organ in another animal.
The vascular organ in mammals except monotremes and marsupials that unites the fetus to the maternal uterus and mediates its metabolic exchanges through a more or less intimate association of uterine mucosal with chorionic and usually allantoic tissues; also: an analogous organ in another animal.[accessedResource: BTO:0001078][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001987 label: placenta
A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus.
A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus.[accessedResource: NCIt:C32078][accessDate: 05-04-2011]
Ankle Joint[accessedResource: NCIt:C32078][accessDate: 05-04-2011]
The highest of the tarsal bones and the one that articulates with the tibia and fibula to form the ankle joint.
The highest of the tarsal bones and the one that articulates with the tibia and fibula to form the ankle joint.[accessedResource: BTO:0002354][accessDate: 05-04-2011]
talus[accessedResource: BTO:0002354][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001488 label: ankle joint
A human upper limb; especially: the part between the shoulder and the wrist.
A human upper limb; especially: the part between the shoulder and the wrist.[accessedResource: BTO:0001435][accessDate: 05-04-2011]
The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb.
The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb.[accessedResource: NCIt:C32141][accessDate: 05-04-2011]
A limb of an animal used especially for supporting the body and for walking.
A limb of an animal used especially for supporting the body and for walking.[accessedResource: BTO:0000721][accessDate: 05-04-2011]
One of the two lower extremities in humans used for locomotion and support.
One of the two lower extremities in humans used for locomotion and support.[accessedResource: NCIt:C32974][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001476 label: deltoid
A large muscle in the back of the lower leg. Its action involves the plantar flexion of the foot.
A large muscle in the back of the lower leg. Its action involves the plantar flexion of the foot.[accessedResource: NCIt:C32666][accessDate: 05-04-2011]
Gastrocnemius Muscle[accessedResource: NCIt:C32666][accessDate: 05-04-2011]
The largest and most superficial muscle of the calf of the leg arising by two heads from the condyles of the femur and attaching to a tendon that becomes part of the Achilles tendon.
The largest and most superficial muscle of the calf of the leg arising by two heads from the condyles of the femur and attaching to a tendon that becomes part of the Achilles tendon.[accessedResource: BTO:0000506][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001388 label: gastrocnemius
Gonadal Ridge[accessedResource: NCIt:C34184][accessDate: 05-04-2011]
A cord arising from the navel that connects the fetus with the placenta.
A cord arising from the navel that connects the fetus with the placenta.[accessedResource: BTO:0001415][accessDate: 05-04-2011]
A cord arising from the navel that connects the fetus with the placenta; also: yolk stalk
Use http://purl.obolibrary.org/obo/UBERON_0002331 label: umbilical cord
Adenocarcinoma of Cervix Uteri[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
Adenocarcinoma of Cervix[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
Adenocarcinoma of Uterine Cervix[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
Adenocarcinoma of the Cervix Uteri[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
Adenocarcinoma of the Cervix[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
Adenocarcinoma of the Uterine Cervix[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papilloma virus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.
An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papilloma virus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
CERVICAL NEOPL[accessedResource: MSH:D002583][accessDate: 05-04-2011]
CERVIX NEOPL[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cancer of Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cancer of the Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cancer of the Uterine Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cancer, Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cancer, Uterine Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cancers, Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cancers, Uterine Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervical Cancer, Uterine[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervical Cancers, Uterine[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervical Neoplasm, Uterine[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervical Neoplasm[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervical Neoplasms, Uterine[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervical Neoplasms[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervix Adenocarcinoma[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
Cervix Cancer[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervix Neoplasm[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervix Neoplasms[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Cervix Uteri Adenocarcinoma[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
NEOPL CERVICAL[accessedResource: MSH:D002583][accessDate: 05-04-2011]
NEOPL CERVIX[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Neoplasm, Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Neoplasm, Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Neoplasm, Uterine Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Neoplasms, Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Neoplasms, Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Neoplasms, Uterine Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Tumors or cancer of the UTERINE CERVIX.[accessedResource: MSH:D002583][accessDate: 05-04-2011]
UTERINE CERVICAL NEOPL[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Uterine Cervical Cancer[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Uterine Cervical Cancers[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Uterine Cervical Neoplasm[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Uterine Cervical Neoplasms[accessedResource: MSH:D002583][accessDate: 05-04-2011]
Uterine Cervix Adenocarcinoma[accessedResource: NCIt:C4029][accessDate: 05-04-2011]
The largest nerve of the body: origin, sacral plexus-L4-S3; it leaves the pelvis through the greater sciatic foramen; branches, divides into the tibial and common peroneal nerves, usually in lower third of thigh; distribution-see individual branches, in this table; modality, general sensory and motor.
The largest nerve of the body: origin, sacral plexus-L4-S3; it leaves the pelvis through the greater sciatic foramen; branches, divides into the tibial and common peroneal nerves, usually in lower third of thigh; distribution-see individual branches, in this table; modality, general sensory and motor.[accessedResource: BTO:0001221][accessDate: 05-04-2011]
The longest single nerve that is formed by the merging of the ventral rami of the L4, L5, and S1 in the pelvis and passes down the lower limb where it divides into the common peroneal and tibial nerves.
The longest single nerve that is formed by the merging of the ventral rami of the L4, L5, and S1 in the pelvis and passes down the lower limb where it divides into the common peroneal and tibial nerves.[accessedResource: NCIt:C52810][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001322 label: sciatic nerve
A muscle in the back of the thigh. Its action involves the knee flexion and hip extension.
A muscle in the back of the thigh. Its action involves the knee flexion and hip extension.[accessedResource: NCIt:C53147][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001374 label: biceps femoris
A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another.
BLOOD POIS[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Blood Poisonings[accessedResource: MSH:D018805][accessDate: 05-04-2011]
POIS BLOOD[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Poisoning, Blood[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Poisonings, Blood[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Pyaemia[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Pyaemias[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Pyemia[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Pyemias[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Pyohemia[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Pyohemias[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Sepsis associated with organ dysfunction distant from the site of infection.
Sepsis associated with organ dysfunction distant from the site of infection.[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Sepsis, NOS[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011]
Sepsis, Severe[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Septicaemia, NOS[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011]
Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.
Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Septicemia, NOS[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011]
Septicemia[accessedResource: NCIt:C3364][accessDate: 05-04-2011]
Septicemias[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Severe Sepsis[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.
Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.[accessedResource: MSH:D018805][accessDate: 05-04-2011]
Systemic infection (disorder)[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011]
Systemic infection, NOS[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011]
Systemic infection[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011]
Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.
Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.[accessedResource: MSH:D018805][accessDate: 05-04-2011]
The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.
The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.[accessedResource: NCIt:C3364][accessDate: 05-04-2011]
blood poisoning[accessedResource: NCIt:C3364][accessDate: 05-04-2011]
toxemia[accessedResource: NCIt:C3364][accessDate: 05-04-2011]
Any disease or dysfunction of the liver and the intrahepatic bile ducts.
Any disease or dysfunction of the liver and the intrahepatic bile ducts.[accessedResource: NCIt:C3196][accessDate: 05-04-2011]
Disease of liver[accessedResource: SNOMEDCT:235856003][accessDate: 05-04-2011]
Disease, Liver[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Diseases, Liver[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Disorder of liver[accessedResource: SNOMEDCT:235856003][accessDate: 05-04-2011]
Dysfunction, Liver[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Dysfunctions, Liver[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Hepatopathy[accessedResource: SNOMEDCT:235856003][accessDate: 05-04-2011]
LD - Liver disease[accessedResource: SNOMEDCT:235856003][accessDate: 05-04-2011]
LIVER DIS[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Liver Diseases[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Liver Disorder[accessedResource: NCIt:C3196][accessDate: 05-04-2011]
Liver Dysfunction[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Liver Dysfunctions[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Liver disorder NOS (disorder)[accessedResource: SNOMEDCT:197375001][accessDate: 05-04-2011]
Liver disorder NOS[accessedResource: SNOMEDCT:197375001][accessDate: 05-04-2011]
Liver disorder in pregnancy (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011]
Liver disorder in pregnancy - delivered (disorder)
Liver disorder in pregnancy - delivered (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011]
Liver disorder in pregnancy NOS (disorder)
Liver disorder in pregnancy NOS (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011]
Liver disorder in pregnancy unspecified (disorder)
Liver disorder in pregnancy unspecified (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011]
Liver disorder in pregnancy, unspecified as to episode of care
Liver disorder in pregnancy, unspecified as to episode of care[accessedResource: DOID:409][accessDate: 05-04-2011]
Liver disorder in pregnancy, with delivery
Liver disorder in pregnancy, with delivery[accessedResource: DOID:409][accessDate: 05-04-2011]
Liver disorder in pregnancy[accessedResource: DOID:409][accessDate: 05-04-2011]
Pathological processes of the LIVER.[accessedResource: MSH:D008107][accessDate: 05-04-2011]
Unspecified disorder of liver[accessedResource: DOID:409][accessDate: 05-04-2011]
[X]Diseases of the liver (disorder)[accessedResource: SNOMEDCT:197551000][accessDate: 05-04-2011]
[X]Diseases of the liver[accessedResource: SNOMEDCT:197551000][accessDate: 05-04-2011]
disease of liver [Ambiguous][accessedResource: DOID:409][accessDate: 05-04-2011]
disease of the liver (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011]
disorder of liver (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011]
hepatic disorder[accessedResource: DOID:409][accessDate: 05-04-2011]
liver disorder antepartum[accessedResource: DOID:409][accessDate: 05-04-2011]
liver disorder in pregnancy - delivered[accessedResource: DOID:409][accessDate: 05-04-2011]
A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholisms, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.
A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholisms, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.[accessedResource: NCIt:C2951][accessDate: 05-04-2011]
CL - Cirrhosis of liver[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011]
Cirrhoses, Hepatic[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Cirrhoses, Liver[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Cirrhosis of liver (disorder)[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011]
Cirrhosis of liver NOS (disorder)[accessedResource: DOID:5082][accessDate: 05-04-2011]
Cirrhosis of liver NOS[accessedResource: DOID:5082][accessDate: 05-04-2011]
Cirrhosis of liver without mention of alcohol
Cirrhosis of liver without mention of alcohol[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011]
Cirrhosis of liver, NOS[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011]
Cirrhosis, Hepatic[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Cirrhosis, Liver[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Cirrhosis[accessedResource: DOID:5082][accessDate: 05-04-2011]
Fibroses, Liver[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Fibrosis, Liver[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Hepatic Cirrhoses[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Hepatic cirrhosis, NOS[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011]
Hepatic cirrhosis[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011]
Liver Cirrhoses[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Liver Fibroses[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Liver Fibrosis[accessedResource: MSH:D008103][accessDate: 05-04-2011]
Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.
Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.[accessedResource: MSH:D008103][accessDate: 05-04-2011]
liver cirrhosis[accessedResource: DOID:5082][accessDate: 05-04-2011]
A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature.
A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature.[accessedResource: MSH:D004679][accessDate: 05-04-2011]
ENCEPH INFLAMM[accessedResource: MSH:D004679][accessDate: 05-04-2011]
Encephalitis &/or myelitis[accessedResource: DOID:640][accessDate: 05-04-2011]
Encephalitis/myelitis NOS (disorder)[accessedResource: DOID:640][accessDate: 05-04-2011]
Encephalitis/myelitis NOS[accessedResource: DOID:640][accessDate: 05-04-2011]
Encephalomyelitis (disorder)[accessedResource: SNOMEDCT:62950007][accessDate: 05-04-2011]
Encephalomyelitis NOS (disorder)[accessedResource: DOID:640][accessDate: 05-04-2011]
Encephalomyelitis NOS[accessedResource: SNOMEDCT:230196000][accessDate: 05-04-2011]
Encephalomyelitis, Inflammatory[accessedResource: MSH:D004679][accessDate: 05-04-2011]
Encephalomyelitis, NOS[accessedResource: SNOMEDCT:62950007][accessDate: 05-04-2011]
INFLAMM ENCEPH[accessedResource: MSH:D004679][accessDate: 05-04-2011]
Inflammatory Encephalomyelitis[accessedResource: MSH:D004679][accessDate: 05-04-2011]
MYELOENCEPH[accessedResource: MSH:D004679][accessDate: 05-04-2011]
Myeloencephalitides[accessedResource: MSH:D004679][accessDate: 05-04-2011]
Myeloencephalitis[accessedResource: MSH:D004679][accessDate: 05-04-2011]
A thick muscle in the cheek that closes the jaws during chewing.
A thick muscle in the cheek that closes the jaws during chewing.[accessedResource: BTO:0001755][accessDate: 05-04-2011]
Masticatory Muscle[accessedResource: NCIt:C13074][accessDate: 05-04-2011]
Masticatory Muscles[accessedResource: NCIt:C13074][accessDate: 05-04-2011]
Muscles arising in the zygomatic arch that close the jaw. (MeSH)
Muscles arising in the zygomatic arch that close the jaw. (MeSH)[accessedResource: NCIt:C13074][accessDate: 05-04-2011]
masseter[accessedResource: BTO:0001755][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001597 label: masseter muscle
Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause.
A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a set of protocols (which may specify how and what kinds of data will be gathered).
Case-Control Study[accessedResource: NCIt:C15197][accessDate: 05-04-2011]
A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls).
A study in which participants are examined at only a single time for characteristics of a disease.
A study in which participants are examined at only a single time for characteristics of a disease.[accessedResource: NCIt:C53310][accessDate: 05-04-2011]
Cross-Sectional Study[accessedResource: NCIt:C53310][accessDate: 05-04-2011]
Familial Study[accessedResource: NCIt:C15407][accessDate: 05-04-2011]
Family Study[accessedResource: NCIt:C15407][accessDate: 05-04-2011]
Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring.
Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring.[accessedResource: NCIt:C15407][accessDate: 05-04-2011]
family_history_design[accessedResource: MO_544][accessDate: 05-04-2011]
Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment.
Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment.[accessedResource: NCIt:C15716][accessDate: 05-04-2011]
Population Study[accessedResource: NCIt:C15716][accessDate: 05-04-2011]
A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior.
Wikipedia definition, modified by editor.
A race is a popluation categorized on the basis of various sets of heritable characteristics.
An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution.
A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument.
An instrument design is information in the form of a specification that describes the setup and design of an instrument.
Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study
A control role is borne by a material in a process in which results obtained from an experimental sample and a control sample are compared.
Controlled[accessedResource: NCIt:C61299][accessDate: 05-04-2011]
Controlling[accessedResource: NCIt:C61299][accessDate: 05-04-2011]
The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another.
The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another.[accessedResource: NCIt:C61299][accessDate: 05-04-2011]
A cancer cell line is defined as something that is bearer of a cancer. A cancer cell line is a cell line.
An epithelial cell derived cell line is defined as something that derives from an epithelial cell.
A stria vascularis is part of a cochlea and is the upper part of the spiral ligament of thescala media that contains numerous small blood vessels.
The upper part of the spiral ligament of the scala media that contains numerous small blood vessels;nA layer of vascular tissue consisting of epithelial cells, mesothelial cells, and probably some neuroectoderm; it covers the outer wall of the cochlear duct and is thought to secrete the endolymph.
The upper part of the spiral ligament of the scala media that contains numerous small blood vessels;nA layer of vascular tissue consisting of epithelial cells, mesothelial cells, and probably some neuroectoderm; it covers the outer wall of the cochlear duct and is thought to secrete the endolymph.[accessedResource: BTO:0001819][accessDate: 05-04-2011]
CHD (coronary heart disease)[accessedResource: DOID:3393][accessDate: 05-04-2011]
CHD - Coronary heart disease[accessedResource: DOID:3393][accessDate: 05-04-2011]
Coronary Artery Disease[accessedResource: NCIt:C26732][accessDate: 05-04-2011]
Coronary heart disease is a cardiovascular disease in which there is a failure of coronary circulation to supply adequate circulation to cardiac muscle and surrounding tissue.
An anatomical modifier is a quality which inheres in an organism part.
A tissue modifier is an anatomical modifier which describes some quality about a tissue.
A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part.
An anlage is a tissue modifier describing some tissue which precedes something other, such as a precursor or forerunner for a more mature structure. For example, the stomach anlage.
Use http://purl.obolibrary.org/obo/UBERON_0007688 label: anlage
A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes.
A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell.
A primordium is a tissue modifier describing an organ or tissue in its earliest recognizable stage of development. For example, intestinal primordium.
Use http://purl.obolibrary.org/obo/UBERON_0001048 label: primordium
Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical.
Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia.
Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur.
Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin.
Lateral is a geometric modifier describing something which is of or pertaining to the side.
Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm.
Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm.
Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus.
Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia.
Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum.
Cancer of Prostate[accessedResource: NCIt:C4863][accessDate: 05-04-2011]
Cancer of the Prostate[accessedResource: NCIt:C4863][accessDate: 05-04-2011]
Carcinoma of Prostate[accessedResource: NCIt:C4863][accessDate: 05-04-2011]
Carcinoma of the Prostate[accessedResource: NCIt:C4863][accessDate: 05-04-2011]
One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease. -- 2002
One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease. -- 2002[accessedResource: NCIt:C4863][accessDate: 05-04-2011]
Prostate Cancer[accessedResource: NCIt:C4863][accessDate: 05-04-2011]
A fold of skin that covers the glans of the penis.
A fold of skin that covers the glans of the penis.[accessedResource: BTO:0001113][accessDate: 05-04-2011]
prepuce[accessedResource: BTO:0001113][accessDate: 05-04-2011]
An abnormal balloon- or sac-like dilatation in the wall of AORTA.
An abnormal balloon- or sac-like dilatation in the wall of AORTA.[accessedResource: MSH:D001014][accessDate: 05-04-2011]
Aneurysm, Aortic[accessedResource: MSH:D001014][accessDate: 05-04-2011]
Aneurysms, Aortic[accessedResource: MSH:D001014][accessDate: 05-04-2011]
Aortic Aneurysms[accessedResource: MSH:D001014][accessDate: 05-04-2011]
a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall
a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall[accessedResource: MP:0006278][accessDate: 05-04-2011]
protruding sac formed by dilation of the aorta
Human Papilloma Virus Infection[accessedResource: NCIt:C27851][accessDate: 05-04-2011]
An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.
An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.[accessedResource: NCIt:C53482][accessDate: 05-04-2011]
A lymph node located in the mediastinum. Mediastinal lymph nodes are arranged in three groups, one on the lateral, another on the medial, and a third on the anterior aspect of the vessels; the third group is, however, sometimes absent.
A lymph node located in the mediastinum. Mediastinal lymph nodes are arranged in three groups, one on the lateral, another on the medial, and a third on the anterior aspect of the vessels; the third group is, however, sometimes absent.[accessedResource: NCIt:C33073][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002524 label: mediastinal lymph node
An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial.
An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial.[accessedResource: NCIt:C753][accessDate: 05-04-2011]
PLCB[accessedResource: NCIt:C753][accessDate: 05-04-2011]
placebo therapy[accessedResource: NCIt:C753][accessDate: 05-04-2011]
sham therapy[accessedResource: NCIt:C753][accessDate: 05-04-2011]
An HIV-like virus that infects monkeys, chimpanzees, and other non-human primates. (AIDS Info HIV Glossary)
An HIV-like virus that infects monkeys, chimpanzees, and other non-human primates. (AIDS Info HIV Glossary)[accessedResource: NCIt:C14274][accessDate: 05-04-2011]
SIV[accessedResource: NCIt:C14274][accessDate: 05-04-2011]
A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude.
A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude.[accessedResource: PATO:0000117][accessDate: 05-04-2011]
Size is a morphology quality which describes a material entity's physical magnitude.
A 2-D extent quality inhering in a bearer by virtue of the bearer's two dimensional extent.
A 2-D extent quality inhering in a bearer by virtue of the bearer's two dimensional extent.[accessedResource: PATO:0001323][accessDate: 05-04-2011]
An area is a size quality which describes the two dimensional extent of a material entity.
A physical quality of the thermal energy of a system.
A physical quality of the thermal energy of a system.[accessedResource: PATO:0000146][accessDate: 05-04-2011]
Temperature is a physical quality of the thermal energy of a system.
A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass.
A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies.
A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies.[accessedResource: PATO:0000918][accessDate: 05-04-2011]
A volume is a size quality which describes the amount of 3-dimensional space an object occupies.
A femtometer is a length unit which is equal to 1m x 10^-15.
array_manufacturer[accessedResource: MO_890][accessDate: 05-04-2011]
biomaterial_provider[accessedResource: MO_591][accessDate: 05-04-2011]
biosequence_provider[accessedResource: MO_881][accessDate: 05-04-2011]
consortium_member[accessedResource: MO_778][accessDate: 05-04-2011]
data_analyst[accessedResource: MO_753][accessDate: 05-04-2011]
data_coder[accessedResource: MO_695][accessDate: 05-04-2011]
hardware_manufacturer[accessedResource: MO_763][accessDate: 05-04-2011]
software_manufacturer[accessedResource: MO_475][accessDate: 05-04-2011]
An information entity about the status of a publication describing the experiment.
cell_component_comparison_design[accessedResource: MO_1019][accessDate: 05-04-2011]
A cell component comparison study design in which RNA from different cell components is examined.
A design in which RNA from different cell components is examined.
cell_cycle_design[accessedResource: MO_822][accessDate: 05-04-2011]
A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells.
cell_type_comparison_design[accessedResource: MO_764][accessDate: 05-04-2011]
A cell type study design experiment design type compares cells of different type for example different cell lines.
development_or_differentiation_design[accessedResource: MO_892][accessDate: 05-04-2011]
A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions.
imprinting_design[accessedResource: MO_914][accessDate: 05-04-2011]
An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure).
individual_genetic_characteristics_design[accessedResource: MO_527][accessDate: 05-04-2011]
A genotype study design type compares genotype, haplotype, or other individual genetic characteristics.
innate_behavior_design[accessedResource: MO_355][accessDate: 05-04-2011]
An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees.
organism_part_comparison_design[accessedResource: MO_953][accessDate: 05-04-2011]
An organism part comparison study design type compares tissues, regions, organs within or between organisms.
organism_status_design[accessedResource: MO_841][accessDate: 05-04-2011]
A design that compares samples from live and dead organisms.
sex_design[accessedResource: MO_575][accessDate: 05-04-2011]
A sex study design type assays differences associated with an organism's sex, gender or mating type.
species_design[accessedResource: MO_675][accessDate: 05-04-2011]
A species study design type assays differences between distinct species.
strain_or_line_design[accessedResource: MO_462][accessDate: 05-04-2011]
A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species.
compound_treatment_design[accessedResource: MO_555][accessDate: 05-04-2011]
A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed.
disease_state_design[accessedResource: MO_902][accessDate: 05-04-2011]
A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress.
dose_response_design[accessedResource: MO_485][accessDate: 05-04-2011]
A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s).
genetic_modification_design[accessedResource: MO_447][accessDate: 05-04-2011]
A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out.
growth_condition_design[accessedResource: MO_588][accessDate: 05-04-2011]
A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients.
injury_design[accessedResource: MO_726][accessDate: 05-04-2011]
An injury study design type is where the response of an organism(s) to injury or damage is studied.
pathogenicity_design[accessedResource: MO_807][accessDate: 05-04-2011]
A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed.
stimulus_or_stress_design[accessedResource: MO_568][accessDate: 05-04-2011]
A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc.
all_pairs[accessedResource: MO_565][accessDate: 05-04-2011]
An all pairs study design type is where all labeled extracts are compared to every other labeled extract.
array_platform_variation_design[accessedResource: MO_899][accessDate: 05-04-2011]
An experiment in which the array platform is compared, e.g. Agilent versus Affy.
dye_swap_design[accessedResource: MO_858][accessDate: 05-04-2011]
A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip
hardware_variation_design[accessedResource: MO_734][accessDate: 05-04-2011]
A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision.
loop_design[accessedResource: MO_912][accessDate: 05-04-2011]
A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design.
normalization_testing_design[accessedResource: MO_729][accessDate: 05-04-2011]
A normalization testing study design tests different normalization procedures.
operator_variation_design[accessedResource: MO_519][accessDate: 05-04-2011]
An operator variation study design type assesses the operator performance and relation to data consistency and quality.
optimization_design[accessedResource: MO_934][accessDate: 05-04-2011]
An optimization study design type is where different protocols or protocol parameters are compared.
quality_control_testing_design[accessedResource: MO_981][accessDate: 05-04-2011]
A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance.
reference_design[accessedResource: MO_699][accessDate: 05-04-2011]
A reference study design type is where all samples are compared to a common reference.
replicate_design[accessedResource: MO_885][accessDate: 05-04-2011]
A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments.
self_vs_self_design[accessedResource: MO_490][accessDate: 05-04-2011]
A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared.
software_variation_design[accessedResource: MO_643][accessDate: 05-04-2011]
A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility.
time_series_design[accessedResource: MO_887][accessDate: 05-04-2011]
A time series study design type examines groups of assays that are related as part of a time series.
clinical_history_design[accessedResource: MO_832][accessDate: 05-04-2011]
A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied.
A family history study design type is where the family history such as traits, characteristics, susceptibility to disease is studied.
RNA_stability_design[accessedResource: MO_553][accessDate: 05-04-2011]
A RNA stability study design type examines the stability and/or decay of RNA transcripts.
genotyping_design[accessedResource: MO_560][accessDate: 05-04-2011]
A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's.
operon_identification_design[accessedResource: MO_772][accessDate: 05-04-2011]
An operon identification experiment type is designed to identify locations and members of operons in a genome.
secreted_protein_identification_design[accessedResource: MO_694][accessDate: 05-04-2011]
A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound.
translational_bias_design[accessedResource: MO_939][accessDate: 05-04-2011]
A translational bias is an experiment design which characterizes the association of transcripts and translation machinery.
Publication submitted to a journal for publication.
Publication in preparation before submitting to a journal.
A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (MSH); A social group characterized by a distinctive social and cultural tradition maintained from generation to generation, a common history and origin and a sense of identification with the group; members of the group have distinctive features in their way of life, shared experiences and often a common genetic heritage; these features may be reflected in their experience of health and disease. (NCI); Ethnicity - an arbitrary classification of the social group a person belongs to, and either identifies with or is identified with by others, as a result of a complex of cultural, biological, geographical and other factors such as linguistic, dietary and religion traditions; ancestry, background, allegiance, or association; and physical characteristics traditionally associated with race. Increasingly the concept is used synonymously with race but this use trend has a pragmatic basis rather than scientific. (NCI); The concept of ethnic origin is an attempt to classify people, not according to their current ethnicity, but according to where their ancestors came from. Ethnic origin has become a popular classification in statistics, where the concept of race has been largely discarded. (from Wikipedia) (NCI); a group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (CSP)
A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (MSH); A social group characterized by a distinctive social and cultural tradition maintained from generation to generation, a common history and origin and a sense of identification with the group; members of the group have distinctive features in their way of life, shared experiences and often a common genetic heritage; these features may be reflected in their experience of health and disease. (NCI); Ethnicity - an arbitrary classification of the social group a person belongs to, and either identifies with or is identified with by others, as a result of a complex of cultural, biological, geographical and other factors such as linguistic, dietary and religion traditions; ancestry, background, allegiance, or association; and physical characteristics traditionally associated with race. Increasingly the concept is used synonymously with race but this use trend has a pragmatic basis rather than scientific. (NCI); The concept of ethnic origin is an attempt to classify people, not according to their current ethnicity, but according to where their ancestors came from. Ethnic origin has become a popular classification in statistics, where the concept of race has been largely discarded. (from Wikipedia) (NCI); a group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (CSP)[accessedResource: NIFSTD:birnlex_3016][accessDate: 05-04-2011]
An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait.
Ethnicity[accessedResource: NIFSTD:birnlex_3016][accessDate: 05-04-2011]
Existing or growing in the air rather than in the ground or in water.
Existing or growing in the air rather than in the ground or in water.[accessedResource: BTO:0001658][accessDate: 05-04-2011]
A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints.
A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints.[accessedResource: BTO:0001572][accessDate: 05-04-2011]
Blood plasma is a yellow liquid component of blood, in which the blood cells in whole blood would normally be suspended.
The fluid portion of the blood in which the particulate components are suspended.
The fluid portion of the blood in which the particulate components are suspended.[accessedResource: BTO:0000131][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001969 label: blood plasma
A capillary tube; especially: any of the smallest blood vessels connecting arterioles with venules and forming networks throughout the body.
A capillary tube; especially: any of the smallest blood vessels connecting arterioles with venules and forming networks throughout the body.[accessedResource: BTO:0002045][accessDate: 05-04-2011]
Tiny blood vessels that connect the arterioles with the venules.
Tiny blood vessels that connect the arterioles with the venules.[accessedResource: NCIt:C12685][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001982 label: capillary
Dorsal skin is a skin found at the dorsal area of an animal.
Caudal is a geometric modifier which indicates a position towards the tail.
Fin that is the most posterior median fin. It is composed of a complex of three modified centra and modified neural and hemal arches and spines.
Fin that is the most posterior median fin. It is composed of a complex of three modified centra and modified neural and hemal arches and spines.[accessedResource: ZFA:0001058][accessDate: 05-04-2011]
tail fin[accessedResource: ZFA:0001058][accessDate: 05-04-2011]
tail[accessedResource: ZFA:0001058][accessDate: 05-04-2011]
A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism.
A caudal ganglionic eminence is a transitory brain structure present in the embryonic and fetal stages of brain development and that is located towards the caudal end.
Use http://purl.obolibrary.org/obo/UBERON_0004026 label: caudal ganglionic eminence
A centrally-located portion of the brain affected by Huntington's Disease. The putamen is structurally similar to the caudate nucleus together with which it composes what is termed the striatum.
A centrally-located portion of the brain affected by Huntington's Disease. The putamen is structurally similar to the caudate nucleus together with which it composes what is termed the striatum.[accessedResource: BTO:0000212][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005383 label: caudate putamen
Use http://purl.obolibrary.org/obo/UBERON_0004801 label: cervix epithelium
A brain ventricle is a brain structure consisting of communicating cavities in the brain that are continuous with the central canal of the spinal cord.
Any of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord.
Any of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord.[accessedResource: BTO:0001442][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004086 label: brain ventricle
The choroid plexus is a brain structure located in the spaces inside the brain called ventricles. The choroid plexus makes the fluid that fills the ventricles and surrounds the brain and spinal cord.
The choroid plexus is tissue located in the spaces inside the brain called ventricles. The choroid plexus makes the fluid that fills the ventricles and surrounds the brain and spinal cord.
The choroid plexus is tissue located in the spaces inside the brain called ventricles. The choroid plexus makes the fluid that fills the ventricles and surrounds the brain and spinal cord.[accessedResource: BTO:0000258][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001886 label: choroid plexus
Posterior epithelium of cornea: the mesothelial layer covering the posterior surface of the posterior limiting lamina of the cornea; it was once believed to extend to the anterior surface of the stroma of the iris.
Posterior epithelium of cornea: the mesothelial layer covering the posterior surface of the posterior limiting lamina of the cornea; it was once believed to extend to the anterior surface of the stroma of the iris.[accessedResource: BTO:0000287][accessDate: 05-04-2011]
Stratified squamous epithelium that covers the outer surface of the cornea. (MeSH)
Stratified squamous epithelium that covers the outer surface of the cornea. (MeSH)[accessedResource: NCIt:C12928][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001772 label: corneal epithelium
Use http://purl.obolibrary.org/obo/UBERON_0000453 label: decidua basalis
A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic.
A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic.[accessedResource: BTO:0002434][accessDate: 05-04-2011]
Dorsal raphe[accessedResource: NIFSTD:birnlex_982][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002043 label: dorsal raphe nucleus
Area 28 of Brodmann (Crosby)[accessedResource: FMA:72356][accessDate: 05-04-2011]
Entorhinal area[accessedResource: FMA:72356][accessDate: 05-04-2011]
Secondary olfactory cortex[accessedResource: FMA:72356][accessDate: 05-04-2011]
Secondary olfactory cortical area (Carpenter)
Secondary olfactory cortical area (Carpenter)[accessedResource: FMA:72356][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002728 label: entorhinal area
Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit.
Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit.[accessedResource: BTO:0001579][accessDate: 05-04-2011]
Extra-ocular muscle[accessedResource: FMA:49033][accessDate: 05-04-2011]
Extrinsic muscle of eyeball[accessedResource: FMA:49033][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001601 label: extra-ocular muscle
Develops from male repressed primordium.
Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen.
Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen.[accessedResource: FBbt:00004914][accessDate: 05-04-2011]
parovarium[accessedResource: FBbt:00004914][accessDate: 05-04-2011]
Floor of the Mouth[accessedResource: NCIt:C54187][accessDate: 05-04-2011]
The area of the mouth under the ventral surface of the tongue.
The area of the mouth under the ventral surface of the tongue.[accessedResource: NCIt:C54187][accessDate: 05-04-2011]
A bud that will develop into a flower.[accessedResource: BTO:0000470][accessDate: 05-04-2011]
Gingiva[accessedResource: FMA:59762][accessDate: 05-04-2011]
Gingival[accessedResource: NCIt:C32677][accessDate: 05-04-2011]
The soft tissue surrounding the neck of individual teeth as well as covering the alveolar bone. The tissue is fibrous and continuous with the periodontal ligament and mucosal covering.
The soft tissue surrounding the neck of individual teeth as well as covering the alveolar bone. The tissue is fibrous and continuous with the periodontal ligament and mucosal covering.[accessedResource: NCIt:C32677][accessDate: 05-04-2011]
The tissue that surrounds the necks of teeth and covers the alveolar parts of the jaws; broadly: the alveolar portion of a jaw with its enveloping soft tissues.
The tissue that surrounds the necks of teeth and covers the alveolar parts of the jaws; broadly: the alveolar portion of a jaw with its enveloping soft tissues.[accessedResource: BTO:0000519][accessDate: 05-04-2011]
gums[accessedResource: NCIt:C32677][accessDate: 05-04-2011]
The female reproductive organs of a flower; the pistil or pistils considered as a group.
The female reproductive organs of a flower; the pistil or pistils considered as a group.[accessedResource: BTO:0001733][accessDate: 05-04-2011]
The fused compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts.
The fused compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts.[accessedResource: FBbt:00004482][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003663 label: hindlimb muscle
The hip is an animal body part which is the laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them.
The lateral prominence of the pelvis from the waist to the thigh.
The lateral prominence of the pelvis from the waist to the thigh.[accessedResource: C64193][accessDate: 05-04-2011]
The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them.
The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them.[accessedResource: BTO:0001457][accessDate: 05-04-2011]
The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm.
The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995.
The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995.[accessedResource: TAO:0000117][accessDate: 05-04-2011]
The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm.[accessedResource: ZFA:0000117][accessDate: 05-04-2011]
mesendoderm[accessedResource: TAO:0000117][accessDate: 05-04-2011]
The part of the axis of a plant embryo or seedling below the cotyledon.
The part of the axis of a plant embryo or seedling below the cotyledon.[accessedResource: BTO:0000613][accessDate: 05-04-2011]
Obsolete - duplication use laryngopharynx EFO_0001388 instead
The hypopharynx is part of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus.
The entire dorsal mesothoracic disc (wing, notal, and pleural parts), in the larval stage of Drosophila.
The entire dorsal mesothoracic disc (wing, notal, and pleural parts), in the larval stage of Drosophila.[accessedResource: BTO:0001464][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002255 label: vomeronasal organ
Ventral tegmental area of Tsai[accessedResource: FMA:72438][accessDate: 05-04-2011]
Ventral tegmental nucleus (Tsai)[accessedResource: FMA:72438][accessDate: 05-04-2011]
Ventral tegmental nucleus of Tsai[accessedResource: FMA:72438][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002691 label: ventral tegmental area
Use http://purl.obolibrary.org/obo/UBERON_0005403 label: ventral striatum
The division of the quadriceps muscle that covers the outer anterior aspect of the femur, arises chiefly from the femur, and inserts into the outer border of the patella by a flat tendon which blends with that of the other divisions of the muscle and sends an expansion to the capsule of the knee.
The division of the quadriceps muscle that covers the outer anterior aspect of the femur, arises chiefly from the femur, and inserts into the outer border of the patella by a flat tendon which blends with that of the other divisions of the muscle and sends an expansion to the capsule of the knee.[accessedResource: BTO:0001563][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001379 label: vastus lateralis
A group of four powerful muscles in the front of the thigh. Their actions involve the extension of the knee joint.
A group of four powerful muscles in the front of the thigh. Their actions involve the extension of the knee joint.[accessedResource: NCIt:C33441][accessDate: 05-04-2011]
Quadriceps Muscle of the Thigh[accessedResource: NCIt:C33441][accessDate: 05-04-2011]
The greater extensor muscle of the front of the thigh that is divided into four parts: rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis.
The greater extensor muscle of the front of the thigh that is divided into four parts: rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis.[accessedResource: BTO:0001149][accessDate: 05-04-2011]
quadriceps[accessedResource: BTO:0001149][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001377 label: quadriceps femoris
Waste material that is secreted by the kidney in vertebrates, is rich in end products of protein metabolism together with salts and pigments, and forms a clear amber and usually slightly acid fluid in mammals but is semisolid in birds and reptiles.
Waste material that is secreted by the kidney in vertebrates, is rich in end products of protein metabolism together with salts and pigments, and forms a clear amber and usually slightly acid fluid in mammals but is semisolid in birds and reptiles.[accessedResource: BTO:0001419][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001088 label: urine
A vein that passes through the umbilical cord to the fetus and returns the oxygenated and nutrient blood from the placenta to the fetus.
A vein that passes through the umbilical cord to the fetus and returns the oxygenated and nutrient blood from the placenta to the fetus.[accessedResource: BTO:0001509][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002066 label: umbilical vein
Blood present in the umbilical vessels at the time of delivery. If cryopreserved at birth, cord blood can serve as a source of autologous lymphocytes for transplantation to a patient later diagnosed and treated for leukemia or lymphoma.
Blood present in the umbilical vessels at the time of delivery. If cryopreserved at birth, cord blood can serve as a source of autologous lymphocytes for transplantation to a patient later diagnosed and treated for leukemia or lymphoma.[accessedResource: NCIt:C13300][accessDate: 05-04-2011]
Cord Blood[accessedResource: NCIt:C13300][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0012168 label: umbilical cord blood
1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured.
1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured.[accessedResource: BTO:0001376][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002769 label: superior temporal gyrus
The uppermost ganglion on the sympathetic trunk, lying behind the internal carotid artery and in front of the second and third cervical vertebrae; it gives rise to postganglionic fibers to the heart via cervical cardiac nerves, to the pharyngeal plexus and thence to the larynx and pharynx, and to the head via the external and internal carotid plexuses.
The uppermost ganglion on the sympathetic trunk, lying behind the internal carotid artery and in front of the second and third cervical vertebrae; it gives rise to postganglionic fibers to the heart via cervical cardiac nerves, to the pharyngeal plexus and thence to the larynx and pharynx, and to the head via the external and internal carotid plexuses.[accessedResource: BTO:0001325][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001989 label: superior cervical ganglion
A broad flat muscle of the calf of the leg lying immediately below the gastrocnemius.
A broad flat muscle of the calf of the leg lying immediately below the gastrocnemius.[accessedResource: BTO:0001265][accessDate: 05-04-2011]
soleus[accessedResource: BTO:0001265][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001389 label: soleus muscle
The terminal bud (0.1 - 1.0 mm) of a plant, which consists of the apical meristem (0.05 - 0.1 mm) and the immediate surrounding leaf primordia and developing leaves and adjacent stem tissue.
The terminal bud (0.1 - 1.0 mm) of a plant, which consists of the apical meristem (0.05 - 0.1 mm) and the immediate surrounding leaf primordia and developing leaves and adjacent stem tissue.[accessedResource: BTO:0000247][accessDate: 05-04-2011]
shoot tip[accessedResource: BTO:0000247][accessDate: 05-04-2011]
A shoot component is a plant component which is specifically part of a plant shoot.
A body tissue consisting of long cells that contract when stimulated and produce motion.
A body tissue consisting of long cells that contract when stimulated and produce motion.[accessedResource: BTO:0000887][accessDate: 05-04-2011]
The middle part of an alimentary canal.[accessedResource: BTO:0000863][accessDate: 05-04-2011]
The part of the alimentary canal derived from the endoderm.
The part of the alimentary canal extending anteriorly from the proventriculus to close to the point where the Malpighian tubes are attached. It is predominantly derived from the endoderm.
The part of the alimentary canal extending anteriorly from the proventriculus to close to the point where the Malpighian tubes are attached. It is predominantly derived from the endoderm.[accessedResource: FBbt:00005383][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001045 label: midgut
Use http://purl.obolibrary.org/obo/UBERON_0001532 label: internal carotid artery
Use http://purl.obolibrary.org/obo/UBERON_0001532 label: external carotid artery
Common carotid arterial subdivision[accessedResource: FMA:70504][accessDate: 05-04-2011]
Subdivision of common carotid artery[accessedResource: FMA:70504][accessDate: 05-04-2011]
A heart component is an animal component that is part of some heart.
Cardiac septum which separates the right ventricle from the left ventricle.
The partition that separates the left ventricle from the right ventricle, consisting of a muscular and a membranous part.
The partition that separates the left ventricle from the right ventricle, consisting of a muscular and a membranous part.[accessedResource: BTO:0002483][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002094 label: interventricular septum
Use http://purl.obolibrary.org/obo/UBERON_0001485 label: knee joint
An internal cavity in each cerebral hemisphere that consists of a central body and three cornua including an anterior one curving forward and outward, a posterior one curving backward, and an inferior one curving downward.
An internal cavity in each cerebral hemisphere that consists of a central body and three cornua including an anterior one curving forward and outward, a posterior one curving backward, and an inferior one curving downward.[accessedResource: BTO:0000879][accessDate: 05-04-2011]
Lateral Ventricle of Brain[accessedResource: C12834][accessDate: 05-04-2011]
Lateral Ventricles[accessedResource: C12834][accessDate: 05-04-2011]
Part of the ventricular system of the brain in each of the cerebral hemispheres. The lateral ventricle in each hemisphere is separated from the other by the septum and each communicates with the THIRD VENTRICLE by the foramen of Monro, In species, particularly those with well developed cortex, the lateral ventrical may be subdivided into anterior, posterior and temporal horns and a body
Part of the ventricular system of the brain in each of the cerebral hemispheres. The lateral ventricle in each hemisphere is separated from the other by the septum and each communicates with the THIRD VENTRICLE by the foramen of Monro, In species, particularly those with well developed cortex, the lateral ventrical may be subdivided into anterior, posterior and temporal horns and a body[accessedResource: NIFSTD:birnlex_1263][accessDate: 05-04-2011]
The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe.
The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe.[accessedResource: C12834][accessDate: 05-04-2011]
Ventricle, Lateral[accessedResource: C12834][accessDate: 05-04-2011]
Ventricles, Lateral[accessedResource: C12834][accessDate: 05-04-2011]
Brainstem[accessedResource: NIFSTD:birnlex_1565][accessDate: 05-04-2011]
The part of the brain composed of the mesencephalon, pons, and medulla oblongata and connecting the spinal cord with the forebrain and cerebrum.
The part of the brain composed of the mesencephalon, pons, and medulla oblongata and connecting the spinal cord with the forebrain and cerebrum.[accessedResource: BTO:0000146][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002298 label: brainstem
locus ceruleus[accessedResource: BTO:0001408][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002148 label: locus ceruleus
1: The lower jaw of a vertebrate animal.n2: Either the upper or lower part of the beak in birds.
1: The lower jaw of a vertebrate animal.n2: Either the upper or lower part of the beak in birds.[accessedResource: BTO:0001748][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001684 label: mandible
Use http://purl.obolibrary.org/obo/UBERON_0000211 label: ligament
Medial Collateral Ligament of the Knee[accessedResource: NCIt:C33064][accessDate: 05-04-2011]
Medial geniculate body[accessedResource: FMA:62211][accessDate: 05-04-2011]
Medial geniculate complex[accessedResource: FMA:62211][accessDate: 05-04-2011]
Medial geniculate nuclei[accessedResource: FMA:62211][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001927 label: medial geniculate body
Thymus medulla[accessedResource: FMA:72206][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002124 label: medulla of thymus
The smooth muscle coat of the uterus, which forms the main mass of the organ.
The smooth muscle coat of the uterus, which forms the main mass of the organ.[accessedResource: BTO:0000907][accessDate: 05-04-2011]
The smooth muscle lining the uterus.[accessedResource: NCIt:C12314][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001296 label: myometrium
Bed nucleus of stria terminalis[accessedResource: FMA:61884][accessDate: 05-04-2011]
Intercalate nucleus of stria terminalis[accessedResource: FMA:61884][accessDate: 05-04-2011]
Nuclei of stria terminalis[accessedResource: FMA:61884][accessDate: 05-04-2011]
Nucleus of stria terminalis[accessedResource: FMA:61884][accessDate: 05-04-2011]
Stria terminalis nucleus[accessedResource: FMA:61884][accessDate: 05-04-2011]
An epithelium located in the roof, superior conchae, and septum of the nasal cavity. It is formed by ciliated olfactory receptor cells, supporting cells and basal cells. Olfactory glands in the epithelium produce and secrete mucus which forms a layer over the epithelium. The cilia of the receptor cells protrude into the mucous layer where molecular reception with odors occurs and sensory transduction begins.
An epithelium located in the roof, superior conchae, and septum of the nasal cavity. It is formed by ciliated olfactory receptor cells, supporting cells and basal cells. Olfactory glands in the epithelium produce and secrete mucus which forms a layer over the epithelium. The cilia of the receptor cells protrude into the mucous layer where molecular reception with odors occurs and sensory transduction begins.[accessedResource: NCIt:C33203][accessDate: 05-04-2011]
Olfactory sensory epithelium[accessedResource: FMA:64803][accessDate: 05-04-2011]
Pseudostratified epithelium lining the olfactory region of the nasal cavity, and containing the receptors for the sense of smell.
Pseudostratified epithelium lining the olfactory region of the nasal cavity, and containing the receptors for the sense of smell.[accessedResource: BTO:0000108][accessDate: 05-04-2011]
Sensory olfactory epithelium[accessedResource: FMA:64803][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001997 label: olfactory epithelium
Use http://purl.obolibrary.org/obo/UBERON_0005725 label: olfactory system
A portion of the retina at which the axons of the ganglion cells exit the eyeball to form the optic nerve. No light-sensitive photoreceptors are contained within this portion of the retina.
A portion of the retina at which the axons of the ganglion cells exit the eyeball to form the optic nerve. No light-sensitive photoreceptors are contained within this portion of the retina.[accessedResource: NCIt:C12760][accessDate: 05-04-2011]
Optic Disk[accessedResource: NCIt:C12760][accessDate: 05-04-2011]
Optic Nerve Head[accessedResource: NCIt:C12760][accessDate: 05-04-2011]
Optic Papilla[accessedResource: NCIt:C12760][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001783 label: optic disc
Synonym with mouth, use mouth instead see: EFO_0000825
The cavity located at the upper end of the alimentary canal, behind the teeth and gums that is bounded on the outside by the lips, above by the hard and soft palates and below by the tongue.
Oral part of pharynx[accessedResource: FMA:54879][accessDate: 05-04-2011]
The part of the pharynx between the soft palate and the upper portion of the epiglottis.
The part of the pharynx between the soft palate and the upper portion of the epiglottis.[accessedResource: NCIt:C12762][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001729 label: oropharynx
Faucial tonsil[accessedResource: FMA:9610][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002373 label: palatine tonsil
Use http://purl.obolibrary.org/obo/UBERON_0006083 label: Perirhinal cortex
Plantaris[accessedResource: FMA:22543][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0011905 label: plantaris
Pleural Tissue[accessedResource: NCIt:C12469][accessDate: 05-04-2011]
The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side.
The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side.[accessedResource: BTO:0001791][accessDate: 05-04-2011]
The tissue that lines the wall of the thoracic cavity and the surface of the lungs.
The tissue that lines the wall of the thoracic cavity and the surface of the lungs.[accessedResource: NCIt:C12469][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000977 label: pleura
Use http://purl.obolibrary.org/obo/UBERON_0000926 label: mesoderm
PSM[accessedResource: ZFA:0000279][accessDate: 05-04-2011]
Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form.
Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.[accessedResource: TAO:0000279][accessDate: 05-04-2011]
Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form.[accessedResource: ZFA:0000279][accessDate: 05-04-2011]
segmental plate[accessedResource: TAO:0000279][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003059 label: presomitic mesoderm
A leaf component is a plant component which is part of a leaf.
Alveolus[accessedResource: FMA:82493][accessDate: 05-04-2011]
A lung structuret is a respiratory system component which is part of a lung.
Peduncle of midbrain[accessedResource: FMA:62394][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002623 label: cerebral peduncle
Lateral geniculate body[accessedResource: FMA:62209][accessDate: 05-04-2011]
Lateral geniculate complex[accessedResource: FMA:62209][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001926 label: ateral geniculate body
Segment of cortex of frontal lobe[accessedResource: FMA:242003][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004167 label: orbitofrontal cortex
Marginal gyrus[accessedResource: FMA:61857][accessDate: 05-04-2011]
Superior frontal convolution[accessedResource: FMA:61857][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002661 label: superior frontal gyrus
The embryonic product of the germination of a seed; the young shoot and root axis.
The embryonic product of the germination of a seed; the young shoot and root axis.[accessedResource: BTO:0001228][accessDate: 05-04-2011]
An organization role is a role which is borne by an organization.
A microarray wash station is an instrument used to wash or stain microarrays.
wash_station[accessedResource: MO_626][accessDate: 05-04-2011]
An Ara-C-resistant murine leukemia is a cell line. A b117h, and a b140h are kinds of Ara-C-resistant murine leukemias.
A GATA-1-null erythroblast is a cell line. A g1e er4 is a GATA-1-null erythroblast.
murine neuroblastoma cholinergic cell line
A b117h is an ara c resistant murine leukemia.
AB140H is an Ara-C-resistant murine leukemia.
D4 glioblastoma derived primary cell line
A g1e er4 is a GATA-1-null erythroblast.
Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976.
A K562 is a cell line. A K562 is bearer of a chronic myelogenous leukemia.
A Kc is a cell line. A Kc derives from a drosophila melanogaster.
A KELLY is a cell line. A KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain.
A Lbeta T2 is a cell line. A Lbeta T2 is both something that derives from a mus musculus, and something that derives from a pituitary.
Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive.
Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive.[accessedResource: BTO:0001321][accessDate: 05-04-2011]
LNCaP cell[accessedResource: BTO:0001321][accessDate: 05-04-2011]
Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment.
Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment.[accessedResource: BTO:0001061][accessDate: 05-04-2011]
PC-3 cell[accessedResource: BTO:0001061][accessDate: 05-04-2011]
PEL-5 is a human primary effusion lymphoma cell line
Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma
Human, Caucasian, glioblastoma cell line.
Human, Caucasian, glioblastoma cell line.[accessedResource: BTO:0001583][accessDate: 05-04-2011]
T-98G cell[accessedResource: BTO:0001583][accessDate: 05-04-2011]
A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment.
technical_replicate[accessedResource: MO_641][accessDate: 05-04-2011]
A biological replicate is a replicate role that consists of independent biological replicates made from different individual BioSources.
biological_replicate[accessedResource: MO_952][accessDate: 05-04-2011]
A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results.
dye_swap_replicate[accessedResource: MO_901][accessDate: 05-04-2011]
A 22rv1 is a cell line. A 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate.
An a101d is a cell line. An a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin.
An arh77 is a cell line. An arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system.
A BDCM is a cell line. A BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system.
A BM1604 is a cell line. A BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate.
duplication with class http://www.ebi.ac.uk/efo/EFO_0001667 label CEM/C1 which should be used instead
Cell line derived from squamous cell carcinoma of the hypopharynx.
A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney
A human cell line derived from some renal leiomyeloblastoma
A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma lung metastasis
A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552
A Jiyoye is a cell line. A Jiyoye is bearer of a Burkitt's lymphoma.
SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma.
A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.
A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Neoplasm of PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Neoplasm of Peripheral Nerve[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Neoplasm of Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Neoplasm of the PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Neoplasm of the Peripheral Nerve[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Neoplasm of the Peripheral Nervous System
Neoplasm of the Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Neoplasm, Peripheral Nerve[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)
Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Neoplasms, PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Neoplasms, Peripheral Nerve[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Neoplasms, Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Nerve Neoplasm, Peripheral[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Nerve Neoplasms, Peripheral[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Nerve Tumor, Peripheral[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Nerve Tumors, Peripheral[accessedResource: MSH:D010524][accessDate: 05-04-2011]
PERIPHERAL NERVE NEOPL BENIGN[accessedResource: MSH:D010524][accessDate: 05-04-2011]
PERIPHERAL NERVE NEOPL INFILTRATION[accessedResource: MSH:D010524][accessDate: 05-04-2011]
PERIPHERAL NERVE NEOPL MALIGNANT[accessedResource: MSH:D010524][accessDate: 05-04-2011]
PERIPHERAL NERVE NEOPL[accessedResource: MSH:D010524][accessDate: 05-04-2011]
PNS BENIGN NEOPL[accessedResource: MSH:D010524][accessDate: 05-04-2011]
PNS MALIGNANT NEOPL[accessedResource: MSH:D010524][accessDate: 05-04-2011]
PNS NEOPL[accessedResource: MSH:D010524][accessDate: 05-04-2011]
PNS Neoplasm[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
PNS Neoplasms[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
PNS Tumor[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Peripheral Nerve Neoplasm[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Peripheral Nerve Neoplasms, Benign[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Peripheral Nerve Neoplasms, Malignant[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Peripheral Nerve Neoplasms[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Peripheral Nerve Neoplastic Infiltration
Peripheral Nerve Neoplastic Infiltration[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Peripheral Nerve Tumor[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Peripheral Nerve Tumors[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Peripheral Nervous System Benign Neoplasms
Peripheral Nervous System Benign Neoplasms[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Peripheral Nervous System Malignant Neoplasms
Peripheral Nervous System Malignant Neoplasms[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Peripheral Nervous System Neoplasm[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Peripheral Nervous System Neoplasms[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Peripheral Nervous System Tumor[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Tumor of PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Tumor of Peripheral Nerve[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Tumor of Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Tumor of the PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Tumor of the Peripheral Nerve[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Tumor of the Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011]
Tumor, Peripheral Nerve[accessedResource: MSH:D010524][accessDate: 05-04-2011]
Tumors, Peripheral Nerve[accessedResource: MSH:D010524][accessDate: 05-04-2011]
A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages.
A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages.[accessedResource: BTO:0001949][accessDate: 05-04-2011]
Core region of nucleus accumbens[accessedResource: FMAID:77383][accessDate: 05-04-2011]
Shell region of nucleus accumbens[accessedResource: FMAID:77387][accessDate: 05-04-2011]
Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells.
Any disease which affects part of the skeletal system.
Geniculate nucleus (body structure)[accessedResource: SNOMEDCT:279108008][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001700 label: geniculate ganglion
Use http://purl.obolibrary.org/obo/UBERON_0002073 label: hair follicle
Use http://purl.obolibrary.org/obo/UBERON_0001946 label: inferior colliculus
Intermediate temporal gyrus[accessedResource: FMA:61906][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002771 label: middle temporal gyrus
Nucleus of oculomotor nerve[accessedResource: FMA:54510][accessDate: 05-04-2011]
Nucleus of third cranial nerve[accessedResource: FMA:54510][accessDate: 05-04-2011]
Oculomotor nuclear complex[accessedResource: FMA:54510][accessDate: 05-04-2011]
Third cranial nerve nucleus[accessedResource: FMA:54510][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001715 label: oculomotor nuclear complex
The area of the plant from where the stamen is shed.
Use http://purl.obolibrary.org/obo/UBERON_0001945 label: superior colliculus
Use http://purl.obolibrary.org/obo/UBERON_0002034 label: suorachiasmatic nucleus
Use http://purl.obolibrary.org/obo/UBERON_0001929 label: supraoptic nucleus
SK - Solar keratosis[accessedResource: DOID:8866][accessDate: 05-04-2011]
Senile hyperkeratosis[accessedResource: DOID:8866][accessDate: 05-04-2011]
Solar keratosis[accessedResource: DOID:8866][accessDate: 05-04-2011]
actinic (Solar) Keratosis[accessedResource: DOID:8866][accessDate: 05-04-2011]
actinic keratosis (disorder)[accessedResource: DOID:8866][accessDate: 05-04-2011]
actinic keratosis (morphologic abnormality)
actinic keratosis (morphologic abnormality)[accessedResource: DOID:8866][accessDate: 05-04-2011]
Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.
astrocytoma, anaplastic (morphologic abnormality)
astrocytoma, anaplastic (morphologic abnormality)[accessedResource: DOID:3078][accessDate: 05-04-2011]
grade III Astrocytic tumor[accessedResource: DOID:3078][accessDate: 05-04-2011]
WHO grade III mixed glioma[accessedResource: DOID:7306][accessDate: 05-04-2011]
anaplastic oligoastrocytoma (morphologic abnormality)
anaplastic oligoastrocytoma (morphologic abnormality)[accessedResource: DOID:7306][accessDate: 05-04-2011]
Oligodendroglioma, anaplastic (morphologic abnormality)
Oligodendroglioma, anaplastic (morphologic abnormality)[accessedResource: DOID:7154][accessDate: 05-04-2011]
Undifferentiated Oligodendroglioma[accessedResource: DOID:7154][accessDate: 05-04-2011]
Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis.
an increase in size of the cardiac tissue, not due to increased cell number
an increase in size of the cardiac tissue, not due to increased cell number[accessedResource: MP:0001625][accessDate: 05-04-2011]
serous Cystoma[accessedResource: DOID:2631][accessDate: 05-04-2011]
serous cystadenoma NOS (morphologic abnormality)
serous cystadenoma NOS (morphologic abnormality)[accessedResource: DOID:2631][accessDate: 05-04-2011]
serous microcystic adenoma[accessedResource: DOID:2631][accessDate: 05-04-2011]
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord (MeSH).
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord (MeSH).[accessedResource: NIFSTD:birnlex_12573][accessDate: 05-04-2011]
Multiple System Atrophy Syndrome[accessedResource: NIFSTD:birnlex_12573][accessDate: 05-04-2011]
Multiple system atrophy (disorder)[accessedResource: DOID:4752][accessDate: 05-04-2011]
Multisystem Atrophy[accessedResource: NIFSTD:birnlex_12573][accessDate: 05-04-2011]
Multisystemic Atrophy[accessedResource: NIFSTD:birnlex_12573][accessDate: 05-04-2011]
Shy-Drager syndrome[accessedResource: DOID:4752][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_8744' instead. New Label : Multiple system atrophy
A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.
A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.[accessedResource: MSH:D010003][accessDate: 05-04-2011]
Arthritides, Degenerative[accessedResource: MSH:D010003][accessDate: 05-04-2011]
Arthritis, Degenerative[accessedResource: MSH:D010003][accessDate: 05-04-2011]
Degenerative Arthritides[accessedResource: MSH:D010003][accessDate: 05-04-2011]
Degenerative Arthritis[accessedResource: MSH:D010003][accessDate: 05-04-2011]
Osteoarthritides[accessedResource: MSH:D010003][accessDate: 05-04-2011]
Osteoarthroses[accessedResource: MSH:D010003][accessDate: 05-04-2011]
Osteoarthrosis Deformans[accessedResource: MSH:D010003][accessDate: 05-04-2011]
Osteoarthrosis[accessedResource: MSH:D010003][accessDate: 05-04-2011]
A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.
A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.[accessedResource: DOID:14330][accessDate: 05-04-2011]
A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)
A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)[accessedResource: MSH:D010300][accessDate: 05-04-2011]
IDIOPATHIC PARKINSON DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011]
IDIOPATHIC PARKINSONS DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Idiopathic PD[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Idiopathic Parkinson Disease[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Idiopathic Parkinson's Disease[accessedResource: MSH:D010300][accessDate: 05-04-2011]
LEWY BODY PARKINSON DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Lewy Body Parkinson Disease[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Lewy Body Parkinson's Disease[accessedResource: MSH:D010300][accessDate: 05-04-2011]
PARKINSON DIS IDIOPATHIC[accessedResource: MSH:D010300][accessDate: 05-04-2011]
PARKINSON DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011]
PARKINSONS DIS IDIOPATHIC[accessedResource: MSH:D010300][accessDate: 05-04-2011]
PARKINSONS DIS LEWY BODY[accessedResource: MSH:D010300][accessDate: 05-04-2011]
PARKINSONS DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Paralysis Agitans[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Parkinson Disease, Idiopathic[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Parkinson disease[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Parkinson syndrome[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Parkinson's Disease, Idiopathic[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Parkinson's Disease, Lewy Body[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Parkinson's disease (disorder)[accessedResource: DOID:14330][accessDate: 05-04-2011]
Parkinson's disease NOS (disorder)[accessedResource: DOID:14330][accessDate: 05-04-2011]
Parkinson's disease NOS[accessedResource: DOID:14330][accessDate: 05-04-2011]
Parkinson's syndrome[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Parkinson's[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Parkinsonian disorder[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Parkinsonism, Primary[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Parkinsons disease[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Parkinsons[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011]
Primary Parkinsonism[accessedResource: MSH:D010300][accessDate: 05-04-2011]
Progressive external ophthalmoplegia (disorder)
chronic progressive external ophthalmoplegia
chronic progressive external ophthalmoplegia [Ambiguous]
chronic progressive external ophthalmoplegia [Ambiguous][accessedResource: DOID:12558][accessDate: 05-04-2011]
chronic progressive external ophthalmoplegia[accessedResource: DOID:12558][accessDate: 05-04-2011]
progressive external ophthalmoplegia (disorder)[accessedResource: DOID:12558][accessDate: 05-04-2011]
ovarian serous cystadenofibroma[accessedResource: DOID:7320][accessDate: 05-04-2011]
obsolete_supranuclear palsy, progressive
A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH).
A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH).[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011]
Progressive Supranuclear Ophthalmoplegia[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011]
Steele-Richardson-Olszewski Disease[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011]
Steele-Richardson-Olszewski Syndrome[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011]
duplicate of class http://www.orphanet.org/rdfns#pat_id_846
progressive supranuclear ophthalmoplegia
progressive supranuclear ophthalmoplegia (disorder)
progressive supranuclear ophthalmoplegia (disorder)[accessedResource: DOID:678][accessDate: 05-04-2011]
progressive supranuclear palsy[accessedResource: DOID:678][accessDate: 05-04-2011]
Alveoli[accessedResource: C12986][accessDate: 05-04-2011]
Any of the terminal sacs in the lungs through which gas exchange takes place with the pulmonary capillary blood.
Any of the terminal sacs in the lungs through which gas exchange takes place with the pulmonary capillary blood.[accessedResource: C12986][accessDate: 05-04-2011]
Bronchial Alveolus[accessedResource: C12986][accessDate: 05-04-2011]
Pulmonary Alveolus[accessedResource: C12986][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003215 label: alveolus
Use http://purl.obolibrary.org/obo/UBERON_0005440 label: ductus arteriosus
Ganglion inferius (Nervus vagus)[accessedResource: FMA:6230][accessDate: 05-04-2011]
Inferior ganglion of vagus[accessedResource: FMA:6230][accessDate: 05-04-2011]
Nodose ganglion[accessedResource: FMA:6230][accessDate: 05-04-2011]
Tenth cranial nerve nodose ganglion[accessedResource: FMA:6230][accessDate: 05-04-2011]
Vagus nerve inferior ganglion[accessedResource: FMA:6230][accessDate: 05-04-2011]
Vagus nerve nodose ganglion[accessedResource: FMA:6230][accessDate: 05-04-2011]
pancreatic ductal carcinoma[accessedResource: DOID:3587][accessDate: 05-04-2011]
Either of the two hollow convoluted lateral halves of the cerebrum.
Either of the two hollow convoluted lateral halves of the cerebrum.[accessedResource: BTO:0000231][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001869 label: cerebral hemisphere
BTBR[accessedResource: NCIt:C37364][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001928 label: preoptic area
Abdominal part of aorta[accessedResource: FMAID:3789][accessDate: 05-04-2011]
Descending abdominal aorta[accessedResource: FMAID:3789][accessDate: 05-04-2011]
Pars abdominalis aortae[accessedResource: FMAID:3789][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001516 label: abdominal aorta
Thoracic part of aorta[accessedResource: FMAID:3786][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001515 label: thoracic aorta
Use http://purl.obolibrary.org/obo/UBERON_0002345 label: descending thoracic aorta
substantia nigra and ventral tegmental area
INS-1 cell[accessedResource: BTO:0002135][accessDate: 05-04-2011]
Pancreatic beta -cell line of rat origin.
Pancreatic beta -cell line of rat origin.[accessedResource: BTO:0002135][accessDate: 05-04-2011]
Blood (fetal) (MMHCC)[accessedResource: NCIt:C22560][accessDate: 05-04-2011]
Fetal Blood[accessedResource: NCIt:C22560][accessDate: 05-04-2011]
nestin positive islet-derived progenitor cell
A pancreatic cell that produces and secretes hormones such as insulin and glucagon.
A pancreatic cell that produces and secretes hormones such as insulin and glucagon.[accessedResource: NCIt:C32885][accessDate: 05-04-2011]
An Islet cell is a pancreatic cell that produces and secretes hormones such as insulin and glucagon.
endocrine pancreas cell[accessedResource: NCIt:C32885][accessDate: 05-04-2011]
The distinct stages of the life cycle of a protozoon of the genus Plasmodium.
The distinct stages of the life cycle of a protozoon of the genus Plasmodium.[accessedResource: IDOMAL:0000296][accessDate: 05-04-2011]
A germ layer lying remote from the surface of the embryo that gives rise to internal tissues such as gut.
A germ layer lying remote from the surface of the embryo that gives rise to internal tissues such as gut.[accessedResource: BTO:0000800][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000925 label: endoderm
NOD[accessedResource: NCIt:C37417][accessDate: 05-04-2011]
A layer of epithelium that lines the heart, blood vessels (ENDOTHELIUM, VASCULAR), lymph vessels (ENDOTHELIUM, LYMPHATIC), and the serous cavities of the body.
A layer of epithelium that lines the heart, blood vessels (ENDOTHELIUM, VASCULAR), lymph vessels (ENDOTHELIUM, LYMPHATIC), and the serous cavities of the body.[accessedResource: MSH:D004727][accessDate: 05-04-2011]
Capillary Endothelium[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Capillary Endotheliums[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Endothelium, Capillary[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Endothelium, Vascular[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Endotheliums, Capillary[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Endotheliums, Vascular[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Endotheliums[accessedResource: MSH:D004727][accessDate: 05-04-2011]
Single pavement layer of cells which line the luminal surface of the entire vascular system and regulate the transport of macromolecules and blood components from interstitium to lumen; this function has been most intensively studied in the blood capillaries.
Single pavement layer of cells which line the luminal surface of the entire vascular system and regulate the transport of macromolecules and blood components from interstitium to lumen; this function has been most intensively studied in the blood capillaries.[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Vascular Endothelium[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Vascular Endotheliums[accessedResource: MSH:D004730][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001986 label: endothelium
Cranial Nerve X[accessedResource: NCIt:C12812][accessDate: 05-04-2011]
Pneumogastric Nerve[accessedResource: NCIt:C12812][accessDate: 05-04-2011]
Tenth Cranial Nerve[accessedResource: NCIt:C12812][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001759 label: vagus nerve
Brachiocephalic trunk[accessedResource: FMAID:3932][accessDate: 05-04-2011]
Innominate artery[accessedResource: FMAID:3932][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001529 label: brachiocephalic artery
A principal artery that originates in the aorta. It supplies blood to the muscular tissue of the heart.
A principal artery that originates in the aorta. It supplies blood to the muscular tissue of the heart.[accessedResource: NCIt:C12843][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001621 label: coronary artery
Use: http://purl.obolibrary.org/obo/UBERON_0001184 label: renal artery
Lingual mucosa[accessedResource: FMAID:54807][accessDate: 05-04-2011]
Mucosa of tongue[accessedResource: FMAID:54807][accessDate: 05-04-2011]
Mucous membrane of tongue[accessedResource: FMAID:54807][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005020 label: mucosa of tongue
Fundus gastricus (ventricularis)[accessedResource: FMAID:14559][accessDate: 05-04-2011]
Fundus of stomach[accessedResource: FMAID:14559][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001160 label: fundus of stomach
Antrum Pylori[accessedResource: NCIt:C12259][accessDate: 05-04-2011]
Gastric Antrum[accessedResource: NCIt:C12259][accessDate: 05-04-2011]
The initial part of the pyloric canal of the stomach. This site contains endocrine cells that produce gastrin and somatostatin.
The initial part of the pyloric canal of the stomach. This site contains endocrine cells that produce gastrin and somatostatin.[accessedResource: NCIt:C12259][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001165 label: pyloric antrum
Epithelium of pancreatic duct[accessedResource: FMAID:67681][accessDate: 05-04-2011]
Pancreatic ductal epithelium[accessedResource: FMAID:67681][accessDate: 05-04-2011]
Parotid[accessedResource: NCIt:C12427][accessDate: 05-04-2011]
The largest of the three paired salivary glands, located in front of the ear.
The largest of the three paired salivary glands, located in front of the ear.[accessedResource: NCIt:C12427][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001831 label: parotid gland
Use http://purl.obolibrary.org/obo/UBERON_0002058 label: ciliary ganglion
An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects.
An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects.[accessedResource: NCIt:C25218][accessDate: 05-04-2011]
Intervention Strategies[accessedResource: NCIt:C25218][accessDate: 05-04-2011]
Intervention or Procedure[accessedResource: NCIt:C25218][accessDate: 05-04-2011]
Intervention[accessedResource: NCIt:C25218][accessDate: 05-04-2011]
Interventional[accessedResource: NCIt:C25218][accessDate: 05-04-2011]
Procedure[accessedResource: NCIt:C25218][accessDate: 05-04-2011]
SURGICAL AND MEDICAL PROCEDURES[accessedResource: NCIt:C25218][accessDate: 05-04-2011]
interventionDescription[accessedResource: NCIt:C25218][accessDate: 05-04-2011]
Embryonic endoderm[accessedResource: FMAID:85519][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005439 label: definitive endoderm
Excision of the Pancreas[accessedResource: NCIt:C15294][accessDate: 05-04-2011]
Pancreas Excision[accessedResource: NCIt:C15294][accessDate: 05-04-2011]
Surgical removal of part or all of the pancreas.
Surgical removal of part or all of the pancreas.[accessedResource: NCIt:C15294][accessDate: 05-04-2011]
Theiler Stage 11a[accessedResource: birnlex_7062][accessDate: 05-04-2011]
Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born.
A schizont produced in the liver of the vertebrate host.
A schizont produced in the liver of the vertebrate host.[accessedResource: IDOMAL:0000322][accessDate: 05-04-2011]
hepatic schizont stage[accessedResource: IDOMAL:0000322][accessDate: 05-04-2011]
A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed.
A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed.[accessedResource: IDOMAL:0000321][accessDate: 05-04-2011]
ring trophozoite stage[accessedResource: IDOMAL:0000321][accessDate: 05-04-2011]
A sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites.
The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites.
The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites.[accessedResource: IDOMAL:0000306][accessDate: 05-04-2011]
erythrocytic schizont stage[accessedResource: IDOMAL:0000306][accessDate: 05-04-2011]
A developmental stage of the Plasmodium life cycle found within the erythrocyte.
A developmental stage of the Plasmodium life cycle found within the erythrocyte.[accessedResource: IDOMAL:0000304][accessDate: 05-04-2011]
trophozoite stage[accessedResource: IDOMAL:0000304][accessDate: 05-04-2011]
The layer of cells that lines the lumen of the aorta.
The layer of cells that lines the lumen of the aorta.[accessedResource: NCIt:C49190][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004851 label: aorta endothelium
distal portion of anterior interventricular branch of left coronary artery
Distal portion of anterior descending branch of left coronary artery
Distal portion of anterior descending branch of left coronary artery[accessedResource: FMAID:3884][accessDate: 05-04-2011]
distal portion of circumflex branch of left coronary artery
Posterior segment of circumflex branch of left coronary artery
Posterior segment of circumflex branch of left coronary artery[accessedResource: FMAID:3906][accessDate: 05-04-2011]
Second segment of circumflex branch of left coronary artery
Second segment of circumflex branch of left coronary artery[accessedResource: FMAID:3906][accessDate: 05-04-2011]
Posterior segment of right coronary artery
Posterior segment of right coronary artery[accessedResource: FMAID:3832][accessDate: 05-04-2011]
Second segment of right coronary artery[accessedResource: FMAID:3832][accessDate: 05-04-2011]
proximal portion of anterior interventricular branch of left coronary artery
Proximal portion of anterior descending branch of left coronary artery
Proximal portion of anterior descending branch of left coronary artery[accessedResource: FMAID:3866][accessDate: 05-04-2011]
proximal portion of circumflex branch of left coronary artery
proximal portion of right coronary artery
Anterior segment of right coronary artery
Anterior segment of right coronary artery[accessedResource: FMAID:3804][accessDate: 05-04-2011]
First segment of right coronary artery[accessedResource: FMAID:3804][accessDate: 05-04-2011]
Import gene from sequence ontology instead
A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.
A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.[accessedResource: DOID:1305][accessDate: 05-04-2011]
A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.
AIDS dementia complex[accessedResource: DOID:1305][accessDate: 05-04-2011]
Acquired immune deficiency syndrome dementia complex
HIV associated cognitive and motor complex
HIV associated cognitive and motor complex[accessedResource: DOID:1305][accessDate: 05-04-2011]
HIV-associated dementia[accessedResource: DOID:1305][accessDate: 05-04-2011]
acquired immune deficiency syndrome dementia complex[accessedResource: DOID:1305][accessDate: 05-04-2011]
Juvenile idiopathic arthritis (disorder)
Juvenile rheumatoid arthritis (disorder)
Juvenile rheumatoid arthritis NOS (disorder)
breast myoepithelial carcinoma[accessedResource: DOID:677][accessDate: 05-04-2011]
A drug dependence that is a psychological dependency on the regular use of cocaine.
A drug dependence that is a psychological dependency on the regular use of cocaine.[accessedResource: DOID:9975][accessDate: 05-04-2011]
Cocaine dependence, unspecified (disorder)
Mental and behavioral disorder due to use of cocaine: dependence syndrome (disorder)
cocaine dependence[accessedResource: DOID:9975][accessDate: 05-04-2011]
obsolete_hereditary breast and ovarian cancer
BRCA1[accessedResource: DOID:5683][accessDate: 05-04-2011]
BRCA2[accessedResource: DOID:5683][accessDate: 05-04-2011]
Familiar breast and Ovarian cancer syndrome
Familiar breast and Ovarian cancer syndrome[accessedResource: DOID:5683][accessDate: 05-04-2011]
hereditary breast ovarian cancer[accessedResource: DOID:5683][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_3384' instead. New Label : Hereditary breast and ovarian cancer syndrome
A gammaherpesvirus that contributes to the development of Kaposi sarcoma.
A gammaherpesvirus that contributes to the development of Kaposi sarcoma.[accessedResource: NCIt:C14327][accessDate: 05-04-2011]
HHV-8[accessedResource: NCIt:C14327][accessDate: 05-04-2011]
HHV8[accessedResource: NCIt:C14327][accessDate: 05-04-2011]
KSHV[accessedResource: NCIt:C14327][accessDate: 05-04-2011]
Kaposi Sarcoma Herpes Virus[accessedResource: NCIt:C14327][accessDate: 05-04-2011]
Kaposi Sarcoma-Associated Herpes Virus[accessedResource: NCIt:C14327][accessDate: 05-04-2011]
Kaposi sarcoma-associated herpesvirus[accessedResource: NCIt:C14327][accessDate: 05-04-2011]
Virus-HHV8[accessedResource: NCIt:C14327][accessDate: 05-04-2011]
diminished effectiveness of insulin in lowering plasma glucose levels
diminished effectiveness of insulin in lowering plasma glucose levels[accessedResource: MP:0005331][accessDate: 05-04-2011]
ICA - Internal carotid artery stenosis[accessedResource: SNOMEDCT:233964008][accessDate: 05-04-2011]
Internal carotid artery stenosis (disorder)
Internal carotid artery stenosis (disorder)[accessedResource: SNOMEDCT:233964008][accessDate: 05-04-2011]
Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia
Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia[accessedResource: DOID:9080][accessDate: 05-04-2011]
Macroglobulinemia (disorder)[accessedResource: DOID:9080][accessDate: 05-04-2011]
Macroglobulinemia NOS (disorder)[accessedResource: DOID:9080][accessDate: 05-04-2011]
Waldenstrm macroglobulinemia (disorder)[accessedResource: DOID:9080][accessDate: 05-04-2011]
Waldenstrom's macroglob'naemia[accessedResource: DOID:9080][accessDate: 05-04-2011]
Waldenstrom's macroglobulinaemia[accessedResource: DOID:9080][accessDate: 05-04-2011]
Waldenstrom's macroglobulinemia (disorder)
Waldenstrom's macroglobulinemia (disorder)[accessedResource: DOID:9080][accessDate: 05-04-2011]
Waldenstrom's macroglobulinemia (morphologic abnormality)
Waldenstrom's macroglobulinemia (morphologic abnormality)[accessedResource: DOID:9080][accessDate: 05-04-2011]
primary macroglobulinemia[accessedResource: DOID:9080][accessDate: 05-04-2011]
A carcinoma that is located_in cells found in the tissues of the pancreas.
A carcinoma that is located_in cells found in the tissues of the pancreas.[accessedResource: DOID:4905][accessDate: 05-04-2011]
A carcinoma that is manifested in cells found in the tissues of the pancreas.
Cancer of Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Cancer of the Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Cancer, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Cancer, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Cancers, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Cancers, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Exocrine pancreas carcinoma[accessedResource: DOID:4905][accessDate: 05-04-2011]
NEOPL PANCREATIC[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Neoplasm, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Neoplasm, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Neoplasms, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Neoplasms, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011]
PANCREAS NEOPL[accessedResource: MSH:D010190][accessDate: 05-04-2011]
PANCREATIC NEOPL[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Pancreas Cancer[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Pancreas Cancers[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Pancreas Neoplasm[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Pancreas Neoplasms[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Pancreatic Cancer[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Pancreatic Cancers[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Pancreatic Neoplasm[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Pancreatic Neoplasms[accessedResource: MSH:D010190][accessDate: 05-04-2011]
Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).
Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).[accessedResource: MSH:D010190][accessDate: 05-04-2011]
carcinoma of pancreas (disorder)[accessedResource: DOID:4905][accessDate: 05-04-2011]
carcinoma of pancreas[accessedResource: DOID:4905][accessDate: 05-04-2011]
Pituitary adenoma (disorder)[accessedResource: DOID:3829][accessDate: 05-04-2011]
Pituitary adenoma - disorder[accessedResource: DOID:3829][accessDate: 05-04-2011]
Pituitary adenoma, no ICD-O subtype (morphologic abnormality)
Pituitary adenoma, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3829][accessDate: 05-04-2011]
adenoma of the Pituitary gland[accessedResource: DOID:3829][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_14209' instead. New Label : Pituitary adenoma
duplicate of class http://www.orphanet.org/rdfns#pat_id_5545
familial benign hypercalcemia (disorder)
familial benign hypercalcemia (disorder)[accessedResource: DOID:11202][accessDate: 05-04-2011]
familial primary hyperparathyroidism[accessedResource: DOID:11202][accessDate: 05-04-2011]
primary hyperparathyroidism (disorder)[accessedResource: DOID:11202][accessDate: 05-04-2011]
A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.
A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.[accessedResource: NCIt:C4064][accessDate: 05-04-2011]
PIN - Prostatic Intraepithelial Neoplasia
PIN - Prostatic Intraepithelial Neoplasia[accessedResource: NCIt:C4064][accessDate: 05-04-2011]
PIN[accessedResource: MP:0009219][accessDate: 05-04-2011]
Prostatic Intraepithelial Neoplasia[accessedResource: NCIt:C4064][accessDate: 05-04-2011]
noninvasive prostate duct lesions that affect smaller caliber ducts
noninvasive prostate duct lesions that affect smaller caliber ducts[accessedResource: MP:0009219][accessDate: 05-04-2011]
A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.
A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.[accessedResource: DOID:4887][accessDate: 05-04-2011]
Rotavirus infectious disease[accessedResource: DOID:4887][accessDate: 05-04-2011]
A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH).
A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH).[accessedResource: NIFSTD:birnlex_12648][accessDate: 05-04-2011]
Dominantly-Inherited Spinocerebellar Ataxia
Dominantly-Inherited Spinocerebellar Ataxia[accessedResource: NIFSTD:birnlex_12648][accessDate: 05-04-2011]
Spinocerebellar Atrophy[accessedResource: NIFSTD:birnlex_12648][accessDate: 05-04-2011]
Spinocerebellar ataxia (disorder)[accessedResource: DOID:1441][accessDate: 05-04-2011]
presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends
presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends[accessedResource: MP:0005578][accessDate: 05-04-2011]
teratospermia[accessedResource: MP:0005578][accessDate: 05-04-2011]
Thymic tumor[accessedResource: DOID:3277][accessDate: 05-04-2011]
neoplasm of thymus (disorder)[accessedResource: DOID:3277][accessDate: 05-04-2011]
thymic neoplasm[accessedResource: DOID:3277][accessDate: 05-04-2011]
Dysplasia of Vulva[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Dysplasia of the Vulva[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Intraepithelial Neoplasia of Vulva[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Intraepithelial Neoplasia of the Vulva[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
VIN[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Vulva Dysplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Vulva Intraepithelial Neoplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Vulval Dysplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Vulval Intraepithelial Neoplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Vulvar Dysplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011]
Postpartum cardiomyopathy (disorder)[accessedResource: SNOMEDCT:62377009][accessDate: 05-04-2011]
Postpartum cardiomyopathy[accessedResource: SNOMEDCT:62377009][accessDate: 05-04-2011]
Puerperal cardiomyopathy[accessedResource: SNOMEDCT:62377009][accessDate: 05-04-2011]
antepartum peripartum cardiomyopathy[accessedResource: DOID:9997][accessDate: 05-04-2011]
postpartum peripartum cardiomyopathy[accessedResource: DOID:9997][accessDate: 05-04-2011]
Dilated cardiomyopathy secondary to viral myocarditis
Dilated cardiomyopathy secondary to viral myocarditis (disorder)
Dilated cardiomyopathy secondary to viral myocarditis (disorder)[accessedResource: SNOMEDCT:30496006][accessDate: 05-04-2011]
Dilated cardiomyopathy secondary to viral myocarditis[accessedResource: SNOMEDCT:30496006][accessDate: 05-04-2011]
A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.
A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.[accessedResource: NCIt:C62798][accessDate: 05-04-2011]
Cardiomyopathy, constrictive[accessedResource: DOID:397][accessDate: 05-04-2011]
Restrictive cardiomyopathy (disorder)[accessedResource: DOID:397][accessDate: 05-04-2011]
primary restrictive cardiomyopathy (disorder)
primary restrictive cardiomyopathy (disorder)[accessedResource: DOID:397][accessDate: 05-04-2011]
obsolete_arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (disorder)
Arrhythmogenic right ventricular cardiomyopathy (disorder)[accessedResource: SNOMEDCT:281170005][accessDate: 05-04-2011]
Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia[accessedResource: SNOMEDCT:281170005][accessDate: 05-04-2011]
duplicate of class http://www.orphanet.org/rdfns#pat_id_8591
Arrhythmogenic right ventricular dysplasia/cardiomyopathy
Left ventricular noncompaction (disorder)
Left ventricular noncompaction (disorder)[accessedResource: SNOMEDCT:427608000][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_10750' instead. New Label : Left ventricular noncompaction
A cell taken directly from a living organism, which is not immortalized.
dendritic cell-derived intermediate cell
Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1] Etanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA "construct" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein "fusing" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been "cloned" to express this recombinant DNA construct.
CAS Number: 505-44-2 Molecular Weight: 163.26 Molecular Formula: C5H9NOS2 Purity: ≥97% Form: Liquid Physical Appearance: Light yellow liquid SMILES: CS(=O)CCCN=C=S
An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer. An example of an antiprogestogen is mifepristone.[1][2
4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications Likely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2] This nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex. [edit]References
Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow.
Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure.
An intermediate usually quiescent stage of a metamorphic insect (as a bee, moth, or beetle) that occurs between the larva and the imago, is usually enclosed in a cocoon or protective covering, and undergoes internal changes by which larval structures are replaced by those typical of the imago.
An intermediate usually quiescent stage of a metamorphic insect as a bee, moth, or beetle that occurs between the larva and the imago, is usually enclosed in a cocoon or protective covering, and undergoes internal changes by which larval structures are replaced by those typical of the imago.
An intermediate usually quiescent stage of a metamorphic insect as a bee, moth, or beetle that occurs between the larva and the imago, is usually enclosed in a cocoon or protective covering, and undergoes internal changes by which larval structures are replaced by those typical of the imago.[accessedResource: BTO:0001143][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003143 label pupa
A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.
A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.[accessedResource: NCIt:C41366][accessDate: 05-04-2011]
Atopic Allergy[accessedResource: NCIt:C41366][accessDate: 05-04-2011]
Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic. Source: Merck Manual
obsolete_myelodysplastic syndrome (MDS)-like
An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).[accessedResource: DOID:2988][accessDate: 05-04-2011]
Antiphospholipid syndrome (disorder)[accessedResource: DOID:2988][accessDate: 05-04-2011]
antiphospholipid antibody syndrome[accessedResource: DOID:2988][accessDate: 05-04-2011]
antiphospholipid syndrome[accessedResource: DOID:2988][accessDate: 05-04-2011]
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.[accessedResource: MSH:D008180][accessDate: 05-04-2011]
Disease, Libman-Sacks[accessedResource: MSH:D008180][accessDate: 05-04-2011]
LIBMAN SACKS DIS[accessedResource: MSH:D008180][accessDate: 05-04-2011]
Libman Sacks Disease[accessedResource: MSH:D008180][accessDate: 05-04-2011]
Libman-Sacks Disease[accessedResource: MSH:D008180][accessDate: 05-04-2011]
Lupus Erythematosus Disseminatus[accessedResource: MSH:D008180][accessDate: 05-04-2011]
Lupus Erythematosus, Systemic[accessedResource: MSH:D008180][accessDate: 05-04-2011]
SLE[accessedResource: MSH:D008180][accessDate: 05-04-2011]
ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins.
ChIP-Seq (Direct sequencing of chromatin immunoprecipitates)
An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence
Experiment[accessedResource: NIFSTD:birnlex_2117][accessDate: 05-04-2011]
A process performed as part of an experiment or wider study, i.e. intentionally designed.
An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, analyse the transcibed regions of the genome, and or to quantitate transcript abundance
A gene expression hybridization on an Affymetrix U133 chip
An assay which uses array based technology to determine information about nucleic acids or proteins
An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids
An instrument which consists of nucleic acid or protein molecules bound to a substrate
Is an instrument is which supports massively parallel sequencing of nucleic acids
An array consisting of DNA probes bound to a substrate
A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions.
SNP array is a DNA array used to detect polymorphisms in DNA samples
A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions.
A SCN2.2 is a cell line. A SCN2.2 is both something that derives from a rattus norvegicus, and something that derives from a suprachiasmatic nucleus.
BxPC-3 cell[accessedResource: BTO:0001861][accessDate: 05-04-2011]
Human pancreatic adenocarcinoma cell line, established from a 61 year old human female.
Human pancreatic adenocarcinoma cell line, established from a 61 year old human female.[accessedResource: BTO:0001861][accessDate: 05-04-2011]
The second stage larva. At 25 Centigrade, it ranges 25.5-32.5 hours after fertilization, 11.5-18.5 hours after hatch.
The third stage larva. At 25 Centigrade, it ranges 32.5-40 hours after fertilization, 18.5-26 hours after hatch.
C57Bl/10 derived non-diabetic mouse strain expressing H2g7.
Nonobese diabetic (NOD) mouse strain which is homozygous for the scid mutation.
C57Bl/10 derived non-diabetic mouse strain expressing H2g7 and Idd3
C57BL/6 congenically expressing H2g7 mouse strain.
Severe Combined Immunodeficiency (SCID) mutant in C57BL6 genetic background mouse strain.
C57Bl/10 derived nonobese diabetic (NOD) mouse strain.
C57Bl/6 derived nonobese diabetic (NOD) mouse strain.
IR(lox/lox) transfection mouse strain maintained on a mixed (C57BL/6 x 129/Sv) genetic background.
Mouse strain with deficiency of the leptin gene (ObOb).
The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node.[accessedResource: BTO:0001445][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002533 label: tail bud
For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health.
For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health.[accessedResource: NCIt:C14172][accessDate: 05-04-2011]
Dietary[accessedResource: NCIt:C15222][accessDate: 05-04-2011]
Diets[accessedResource: MSH:D004032][accessDate: 05-04-2011]
Regular course of eating and drinking adopted by a person or animal. This does not include DIET THERAPY, a specific diet prescribed in the treatment of a disease.
Regular course of eating and drinking adopted by a person or animal. This does not include DIET THERAPY, a specific diet prescribed in the treatment of a disease.[accessedResource: MSH:D004032][accessDate: 05-04-2011]
The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health.
The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health.[accessedResource: NCIt:C15222][accessDate: 05-04-2011]
Abstaining from food.[accessedResource: NCIt:C63663][accessDate: 05-04-2011]
Fast[accessedResource: NCIt:C63663][accessDate: 05-04-2011]
HF - High fat diet[accessedResource: SNOMEDCT:226097005][accessDate: 05-04-2011]
High fat diet (finding)[accessedResource: SNOMEDCT:226097005][accessDate: 05-04-2011]
Diet - low in fat[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011]
LF - Low fat diet[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011]
LFD - Low fat diet[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011]
Low fat diet (finding)[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011]
Low fat diet, NOS[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011]
An assay in which the methylation state of DNA is determined and is compared between samples using array technology
An assay where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology
methylation profiling by high throughput sequencing
An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology
An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling microarray technology
obsolete_ChIP-seq by high throughput sequencing
An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology
An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology
proteomic profiling by mass spectrometer
An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry
An assay in which an array is used detect polymorphisms in DNA samples
An assay in which the transcriptome of a biological sample is analysed using array technology.
An assay in which the transcriptome of a biological sample is analysed using a tiling path array.
transcription profiling by high throughput sequencing
genotyping by high throughput sequencing
An assay in which high throughput sequencing is used to determine the genotype of a DNA sample
aortic smooth muscle[accessedResource: BTO:0001685][accessDate: 05-04-2011]
H0287 is a cell line derived from normal lymphoblastoid cells
NHA is a cell line derived from normal (healthy) human astrocyte cells.
BG02ES is a cell line dervied from human embryonic stem cells.
The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes.
The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta.
The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta.[accessedResource: BTO:0000252][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003124 label: chorion
A chorion cell line is a cell line that is derived from the chorion.
Glioblastoma H54 is a cell line derived from
GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990.
A GM12892 is a cell line. A GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell.
A GM18507 is a cell line. A GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast.
A GM19238 is a cell line. A GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell.
A GM19239 is a cell line. A GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell.
A GM19240 is a cell line. A GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell.
A HGF is a cell line. A HGF is all of the following: something that has as quality a normal, something that derives from a Homo sapiens, and something that derives from a fibroblast.
HL-60 cell[accessedResource: BTO:0000738][accessDate: 05-04-2011]
HL-60 is a cell line which is the bearer of human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976.
Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976.[accessedResource: BTO:0000738][accessDate: 05-04-2011]
A Jurkat is a cell line. A Jurkat is all of the following: something that is bearer of a T cell acute lymphoblastic leukemia, something that derives from a homo sapiens, and something that derives from a T cell.
Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called "JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features.
Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features.
Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features.[accessedResource: BTO:0000661][accessDate: 05-04-2011]
JURKAT cell[accessedResource: BTO:0000661][accessDate: 05-04-2011]
LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells.
SAEC is a cell line derived from Small Airway Epithelial Cells
neuroblastoma cell line differentiated w/ retinoic acid
Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen. Examples: There is only one pelvis.
The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the p. major superiorly and the p. minor inferiorly.
The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the pelvis major superiorly and the pelvis minor inferiorly.
The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the pelvis major superiorly and the pelvis minor inferiorly.[accessedResource: BTO:0001006][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003690 label: pelvis
The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]
A 1205 lu is a cell line. A 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens.
3T3-F442A cell[accessedResource: BTO:0001169][accessDate: 05-04-2011]
Preadipocyte cell line.[accessedResource: BTO:0001169][accessDate: 05-04-2011]
An ab2.2 is a cell line. An ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell.
BJAB cell[accessedResource: BTO:0001931][accessDate: 05-04-2011]
The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line.
The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line.[accessedResource: BTO:0001931][accessDate: 05-04-2011]
A CADO ES1 is a cell line. A CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens.
A CM7-1 is a cell line. A CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell.
CTLL-2 cell[accessedResource: BTO:0001482][accessDate: 05-04-2011]
Mouse, C57BL/6, T-lymphocyte cell line.[accessedResource: BTO:0001482][accessDate: 05-04-2011]
H69 cell[accessedResource: BTO:0000679][accessDate: 05-04-2011]
Human Caucasian lung small cell carcinoma cell line.
Human Caucasian lung small cell carcinoma cell line.[accessedResource: BTO:0000679][accessDate: 05-04-2011]
HCT-116 cell[accessedResource: BTO:0002254][accessDate: 05-04-2011]
Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man.
Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man.[accessedResource: BTO:0002254][accessDate: 05-04-2011]
A KS-IMM is a cell line. A KS-IMM is bearer of a Kaposi's sarcoma.
KS-IMM cell[accessedResource: BTO:0002070][accessDate: 05-04-2011]
The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor.
The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor.[accessedResource: BTO:0002070][accessDate: 05-04-2011]
A LC-1F is a cell line. A LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from a Homo sapiens.
A MIN6 is a cell line. A MIN6 derives from a mus musculus.
MIN-6 cell[accessedResource: BTO:0002284][accessDate: 05-04-2011]
The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells.
The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells.[accessedResource: BTO:0002284][accessDate: 05-04-2011]
Human gastric adenosquamous carcinoma cell line.
Human gastric adenosquamous carcinoma cell line.[accessedResource: BTO:0002384][accessDate: 05-04-2011]
MKN-1 cell[accessedResource: BTO:0002384][accessDate: 05-04-2011]
MKN-28 cell[accessedResource: BTO:0002381][accessDate: 05-04-2011]
Well differentiated human gastric adenocarcinoma cell line.
Well differentiated human gastric adenocarcinoma cell line.[accessedResource: BTO:0002381][accessDate: 05-04-2011]
Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman.
Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman.[accessedResource: BTO:0001225][accessDate: 05-04-2011]
MKN-45 cell[accessedResource: BTO:0001225][accessDate: 05-04-2011]
MKN-74 cell[accessedResource: BTO:0002383][accessDate: 05-04-2011]
Well differentiated human gastric adenocarcinoma cell line.[accessedResource: BTO:0002383][accessDate: 05-04-2011]
Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966.
Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966.[accessedResource: BTO:0001590][accessDate: 05-04-2011]
MRC-5 cell[accessedResource: BTO:0001590][accessDate: 05-04-2011]
Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy.
Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy.[accessedResource: BTO:0002425][accessDate: 05-04-2011]
MSTO-211H cell[accessedResource: BTO:0002425][accessDate: 05-04-2011]
A RM 82 is a cell line. A RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo sapiens.
A SBC-3 is a cell line. A SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a Homo sapiens.
A carcinoma arising from the epithelium of the renal parenchyma (renal cell carcinoma) or the renal pelvis (renal pelvis carcinoma). The vast majority of renal cell carcinomas are adenocarcinomas. The vast majority of renal pelvis carcinomas are transitional cell carcinomas. Renal carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. -- 2004
A carcinoma arising from the epithelium of the renal parenchyma (renal cell carcinoma) or the renal pelvis (renal pelvis carcinoma). The vast majority of renal cell carcinomas are adenocarcinomas. The vast majority of renal pelvis carcinomas are transitional cell carcinomas. Renal carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. -- 2004[accessedResource: NCIt:C9384][accessDate: 05-04-2011]
Grawitz Tumor[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Kidney Cancer[accessedResource: NCIt:C9384][accessDate: 05-04-2011]
Kidney Carcinoma[accessedResource: NCIt:C9384][accessDate: 05-04-2011]
Renal Cancer[accessedResource: NCIt:C9384][accessDate: 05-04-2011]
Renal Cell Adenocarcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Renal Cell Cancer[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011]
Any cell line that is derived from the prostate.
head and neck cancer, Thyroid[accessedResource: DOID:3963][accessDate: 05-04-2011]
An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.
An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.[accessedResource: NCIt:C2948][accessDate: 05-04-2011]
Choriocarcinoma (disorder)[accessedResource: DOID:3594][accessDate: 05-04-2011]
Choriocarcinoma, no ICD-O subtype (morphologic abnormality)
Choriocarcinoma, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3594][accessDate: 05-04-2011]
Chorioepithelioma NOS[accessedResource: DOID:3594][accessDate: 05-04-2011]
chorioblastoma[accessedResource: NCIt:C2948][accessDate: 05-04-2011]
chorioepithelioma[accessedResource: DOID:3594][accessDate: 05-04-2011]
chorionic carcinoma[accessedResource: NCIt:C2948][accessDate: 05-04-2011]
Amelanotic Malignant Melanoma (of Skin)[accessedResource: NCIt:C4633][accessDate: 05-04-2011]
Amelanotic Malignant Melanoma of Skin[accessedResource: NCIt:C4633][accessDate: 05-04-2011]
Amelanotic Malignant Melanoma of the Skin
Amelanotic Malignant Melanoma of the Skin[accessedResource: NCIt:C4633][accessDate: 05-04-2011]
Amelanotic Malignant Skin Melanoma[accessedResource: NCIt:C4633][accessDate: 05-04-2011]
Amelanotic Melanoma of Skin[accessedResource: NCIt:C4633][accessDate: 05-04-2011]
Amelanotic Melanoma of the Skin[accessedResource: NCIt:C4633][accessDate: 05-04-2011]
MKN-7 cell[accessedResource: BTO:0002382][accessDate: 05-04-2011]
Well differentiated human gastric adenocarcinoma cell line.[accessedResource: BTO:0002382][accessDate: 05-04-2011]
microRNA profiling by high throughput sequencing
An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome.
A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population.
A motility assay is an assay which measures the controlled movement of a population of cells.
A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used.
characterization of functional areas of human genome
Cancer of Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Cancer of the Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Cancer, Esophageal[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Cancer, Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Cancers, Esophageal[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Cancers, Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011]
ESOPHAGEAL NEOPL[accessedResource: MSH:D004938][accessDate: 05-04-2011]
ESOPHAGUS NEOPL[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Esophageal Cancer[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Esophageal Cancers[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Esophageal Neoplasm[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Esophageal Neoplasms[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Esophagus Cancer[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Esophagus Cancers[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Esophagus Neoplasm[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Esophagus Neoplasms[accessedResource: MSH:D004938][accessDate: 05-04-2011]
NEOPL ESOPHAGEAL[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Neoplasm, Esophageal[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Neoplasm, Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Neoplasms, Esophageal[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Neoplasms, Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011]
Tumors or cancer of the ESOPHAGUS.[accessedResource: MSH:D004938][accessDate: 05-04-2011]
A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.[accessedResource: NCIt:C7541][accessDate: 05-04-2011]
RB[accessedResource: NCIt:C7541][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_122' instead. New Label : Retinoblastoma
IU[accessedResource: MO_1011][accessDate: 05-04-2011]
A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume.
mg_per_kg_per_day[accessedResource: MO_353][accessDate: 05-04-2011]
Cell lines used in experiments under the HapMap Project
Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx
A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)
A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)[accessedResource: MSH:D008527][accessDate: 05-04-2011]
A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)
Adult Medulloblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Adult Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Arachnoidal Cerebellar Sarcoma, Circumscribed
Arachnoidal Cerebellar Sarcoma, Circumscribed[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Childhood Medulloblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Childhood Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Desmoplastic Medulloblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Desmoplastic Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastoma, Adult[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastoma, Childhood[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastoma, Desmoplastic[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastoma, Melanocytic[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastomas, Adult[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastomas, Childhood[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastomas, Desmoplastic[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastomas, Melanocytic[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medullomyoblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Medullomyoblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Melanocytic Medulloblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Melanocytic Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011]
Sarcoma, Cerebellar, Circumscribed Arachnoidal
Sarcoma, Cerebellar, Circumscribed Arachnoidal[accessedResource: MSH:D008527][accessDate: 05-04-2011]
An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)
An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)
An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)
A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed
Familial cardiomyopathy (disorder)[accessedResource: SNOMEDCT:35728003][accessDate: 05-04-2011]
Primary familial cardiomyopathy[accessedResource: SNOMEDCT:35728003][accessDate: 05-04-2011]
A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.
A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.[accessedResource: DOID:13372][accessDate: 05-04-2011]
AAT deficiency[accessedResource: DOID:13372][accessDate: 05-04-2011]
ALPHA-1-ANTITRYPSIN DEF[accessedResource: ICD9:273.4][accessDate: 05-04-2011]
Alpha-1-antitrypsin deficiency (disorder)
Alpha-1-antitrypsin deficiency (disorder)[accessedResource: SNOMEDCT:154771007][accessDate: 05-04-2011]
alpha 1-antitrypsin deficiency[accessedResource: DOID:13372][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_194' instead. New Label : Alpha-1 antitrypsin deficiency
The quality of an organism that has successful reproduced.
The stage of the mother from immediately after the birth of offspring and extending for about six weeks
The time period after birth.[accessedResource: NCIt:C81317][accessDate: 05-04-2011]
Gestation[accessedResource: MSH:D011247][accessDate: 05-04-2011]
PREGN[accessedResource: MSH:D011247][accessDate: 05-04-2011]
Pregnancies[accessedResource: MSH:D011247][accessDate: 05-04-2011]
The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth.
The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth.[accessedResource: NCIt:C25742][accessDate: 05-04-2011]
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.[accessedResource: MSH:D011247][accessDate: 05-04-2011]
The quality of an organism that has never been sexually active.
A property of a cell which is no longer pluripotent
experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes.
A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation
NTera2 derived dopaminergic neuronal like cells
A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells
A property of a cell which is able to differentiate into into one or more differentiated cell types
embryonic stem cell derived neuronal stem cell
neural stem cells experimentally derived from ES cells
Body System, Endocrine/Metabolic[accessedResource: NCIt:C12705][accessDate: 05-04-2011]
Collective designation for those tissues capable of secreting hormones.
Collective designation for those tissues capable of secreting hormones.[accessedResource: NCIt:C12705][accessDate: 05-04-2011]
Endocrine system (all sites)[accessedResource: NCIt:C12705][accessDate: 05-04-2011]
Endocrine/Metabolic Body System[accessedResource: NCIt:C12705][accessDate: 05-04-2011]
Endocrine/Metabolic Organ System[accessedResource: NCIt:C12705][accessDate: 05-04-2011]
Hormonal System[accessedResource: NCIt:C12705][accessDate: 05-04-2011]
Metabolic/Endocrine Body System[accessedResource: NCIt:C12705][accessDate: 05-04-2011]
Organ System, Endocrine/Metabolic[accessedResource: NCIt:C12705][accessDate: 05-04-2011]
Systema endocrinum[accessedResource: FMAID:9668][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000949 label: endocrine system
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.[accessedResource: DOID:423][accessDate: 05-04-2011]
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.[accessedResource: MSH:D009135][accessDate: 05-04-2011]
MUSCLE DIS[accessedResource: MSH:D009135][accessDate: 05-04-2011]
MUSCULAR DIS[accessedResource: MSH:D009135][accessDate: 05-04-2011]
Muscle Disorder[accessedResource: MSH:D009135][accessDate: 05-04-2011]
Muscle Disorders[accessedResource: MSH:D009135][accessDate: 05-04-2011]
Muscular Diseases[accessedResource: MSH:D009135][accessDate: 05-04-2011]
Myopathic Condition[accessedResource: MSH:D009135][accessDate: 05-04-2011]
Myopathic Conditions[accessedResource: MSH:D009135][accessDate: 05-04-2011]
Myopathies[accessedResource: MSH:D009135][accessDate: 05-04-2011]
Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle.
myopathy[accessedResource: DOID:423][accessDate: 05-04-2011]
The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight).
breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'
Agressive behaviour is the process of engaging on hostile, affective, or retaliatory aggression and instrumental, predatory, or goal-oriented aggression towards other individuals.
Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor.
Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor.[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
BDC[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Bellini duct carcinoma[accessedResource: SNOMEDCT:128669006][accessDate: 05-04-2011]
Carcinoma of Collecting Ducts of Bellini
Carcinoma of Collecting Ducts of Bellini[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Carcinoma of Kidney Collecting Duct[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Carcinoma of Renal Collecting Duct[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Carcinoma of the Collecting Ducts of Bellini
Carcinoma of the Collecting Ducts of Bellini[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Carcinoma of the Kidney Collecting Duct[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Carcinoma of the Renal Collecting Duct[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Collecting duct carcinoma (morphologic abnormality)
Collecting duct carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:128669006][accessDate: 05-04-2011]
Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body).
Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body).[accessedResource: DOID:4464][accessDate: 05-04-2011]
Kidney Collecting Duct Carcinoma[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Renal Collecting Duct Carcinoma[accessedResource: NCIt:C6194][accessDate: 05-04-2011]
Renal carcinoma, collecting duct type[accessedResource: SNOMEDCT:128669006][accessDate: 05-04-2011]
renal Medullary carcinoma[accessedResource: DOID:4464][accessDate: 05-04-2011]
Renal Pelvis Transitional Cell Carcinoma
Renal Pelvis Transitional Cell Carcinoma[accessedResource: NCIt:C7355][accessDate: 05-04-2011]
Renal Pelvis Urothelial Carcinoma[accessedResource: NCIt:C7355][accessDate: 05-04-2011]
Transitional Cell Carcinoma of Renal Pelvis
Transitional Cell Carcinoma of Renal Pelvis[accessedResource: NCIt:C7355][accessDate: 05-04-2011]
Transitional Cell Carcinoma of the Renal Pelvis
Transitional Cell Carcinoma of the Renal Pelvis[accessedResource: NCIt:C7355][accessDate: 05-04-2011]
Transitional cell carcinoma of kidney (disorder)
Transitional cell carcinoma of kidney (disorder)[accessedResource: SNOMEDCT:408642003][accessDate: 05-04-2011]
Urothelial Cell Carcinoma of Renal Pelvis
Urothelial Cell Carcinoma of Renal Pelvis[accessedResource: NCIt:C7355][accessDate: 05-04-2011]
Urothelial Cell Carcinoma of the Renal Pelvis
Urothelial Cell Carcinoma of the Renal Pelvis[accessedResource: NCIt:C7355][accessDate: 05-04-2011]
sarcomatoid transitional cell carcinoma of renal Pelvis
sarcomatoid transitional cell carcinoma of renal Pelvis[accessedResource: DOID:6844][accessDate: 05-04-2011]
sarcomatoid transitional cell carcinoma of the kidney pelvis
sarcomatoid transitional cell carcinoma of the kidney pelvis[accessedResource: DOID:6844][accessDate: 05-04-2011]
Tropical pyomyositis[accessedResource: DOID:876][accessDate: 05-04-2011]
pyomyositis[accessedResource: DOID:876][accessDate: 05-04-2011]
minimally differentiated acute myeloblastic leukemia
AML with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
Acute Myeloblastic Leukemia with Minimal Differentiation
Acute Myeloblastic Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
Acute Myeloblastic Leukemia, Minimally Differentiated
Acute Myeloblastic Leukemia, Minimally Differentiated[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
Acute Myelocytic Leukemia with Minimal Differentiation
Acute Myelocytic Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
Acute Myelogenous Leukemia with Minimal Differentiation
Acute Myelogenous Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
Acute Myeloid Leukemia with Minimal Differentiation
Acute Myeloid Leukemia with Minimal Differentiation (MO)
Acute Myeloid Leukemia with Minimal Differentiation (MO)[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
Acute Myeloid Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
Acute Myeloid Leukemia, Minimally Differentiated
Acute Myeloid Leukemia, Minimally Differentiated[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies. The patients present with anemia, neutropenia, and thrombocytopenia. The prognosis is usually poor. (WHO, 2001)
An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies. The patients present with anemia, neutropenia, and thrombocytopenia. The prognosis is usually poor. (WHO, 2001)[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
M0 Acute Granulocytic Leukemia with Minimal Differentiation
M0 Acute Granulocytic Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
M0 Acute Granulocytic Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
M0 Acute Myeloblastic Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
M0 Acute Myelocytic Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
M0 Acute Myelogenous Leukemia with Minimal Differentiation
M0 Acute Myelogenous Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
M0 Acute Myelogenous Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
M0 Myeloid Leukemia with Minimal Differentiation
M0 Myeloid Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
M0 Myeloid Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011]
acute myeloblastic leukemia without maturation
AML without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
Acute Granulocytic Leukemia without Maturation
Acute Granulocytic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
Acute M1 Myeloid Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
Acute Myelocytic Leukemia without Maturation
Acute Myelocytic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
Acute Myelogenous Leukemia without Maturation
Acute Myelogenous Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
Acute Myeloid Leukemia without Maturation (FAB M1)
Acute Myeloid Leukemia without Maturation (FAB M1)[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
Acute Myeloid Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. The patients present with anemia, neutropenia, and thrombocytopenia. This type of AML usually follows an aggressive clinical course. (WHO, 2001)
An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. The patients present with anemia, neutropenia, and thrombocytopenia. This type of AML usually follows an aggressive clinical course. (WHO, 2001)[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
FAB M1[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Granulocytic Leukemia without Maturation
M1 Acute Granulocytic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Granulocytic Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Myeloblastic Leukemia without Maturation
M1 Acute Myeloblastic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Myeloblastic Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Myelocytic Leukemia without Maturation
M1 Acute Myelocytic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Myelocytic Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Myelogenous Leukemia without Maturation
M1 Acute Myelogenous Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Myelogenous Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Myeloid Leukemia without Maturation
M1 Acute Myeloid Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
M1 Acute Myeloid Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011]
acute myeloblastic leukemia with maturation
AML with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
Acute M2 Myeloid Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
Acute Myelocytic Leukemia with Maturation
Acute Myelocytic Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
Acute Myelogenous Leukemia with Maturation
Acute Myelogenous Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
Acute Myeloid Leukemia (AML-M2)[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
Acute Myeloid Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)
An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
FAB M2[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
M2 Acute Granulocytic Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
M2 Acute Myeloblastic Leukemia with Maturation
M2 Acute Myeloblastic Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
M2 Acute Myeloblastic Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
M2 Acute Myelocytic Leukemia with Maturation
M2 Acute Myelocytic Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
M2 Acute Myelogenous Leukemia with Maturation
M2 Acute Myelogenous Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
M2 Acute Myelogenous Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
M2 Acute Myeloid Leukemia with Maturation
M2 Acute Myeloid Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
M2 Acute Myeloid Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011]
An acute myeloid leukemia in which the immature cells differentiate towards basophils. This is a rare leukemia. The observed cases have been associated with a poor prognosis. The term basophilic leukemia is used as a synonym for acute basophilic leukemia. Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia. (WHO, 2001)
An acute myeloid leukemia in which the immature cells differentiate towards basophils. This is a rare leukemia. The observed cases have been associated with a poor prognosis. The term basophilic leukemia is used as a synonym for acute basophilic leukemia. Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia. (WHO, 2001)[accessedResource: NCIt:C3164][accessDate: 05-04-2011]
Basophilic Leukemia[accessedResource: NCIt:C3164][accessDate: 05-04-2011]
Leukemia Basophilic[accessedResource: NCIt:C3164][accessDate: 05-04-2011]
Unspecified bacteremia (context-dependent category)
A cell with empty-appearing cytoplasm when viewed with a light microscope.
A cell with empty-appearing cytoplasm when viewed with a light microscope.[accessedResource: NCIt:C12478][accessDate: 05-04-2011]
Clear Cells[accessedResource: NCIt:C12478][accessDate: 05-04-2011]
colonic mucosa[accessedResource: BTO:0000271][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000317 label: colonic mucosa
The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy.
The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy.[accessedResource: BTO:0000396][accessDate: 05-04-2011]
H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1
A Hepacivirus infectious disease and is_a viral hepatitis that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
A Hepacivirus infectious disease and is_a viral hepatitis that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.[accessedResource: DOID:1883][accessDate: 05-04-2011]
A Hepacivirus infectious disease which is a chronic bloodborne infectious disease caused by Hepatitis C virus. The symptoms include fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain and jaundice.
A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
NANBH[accessedResource: DOID:1883][accessDate: 05-04-2011]
chronic hepatitis C[accessedResource: DOID:1883][accessDate: 05-04-2011]
hepatitis nonA nonB[accessedResource: DOID:1883][accessDate: 05-04-2011]
Iliac[accessedResource: NCIt:C32765][accessDate: 05-04-2011]
The broad, dorsal, upper, and widest of the three principal bones composing either half of the pelvis.
The broad, dorsal, upper, and widest of the three principal bones composing either half of the pelvis.[accessedResource: NCIt:C32765][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001273 label: ilium
A malignant epithelial neoplasm composed of large, atypical cells.
A malignant epithelial neoplasm composed of large, atypical cells.[accessedResource: NCIt:C3780][accessDate: 05-04-2011]
Carcinoma, Large Cell[accessedResource: NCIt:C3780][accessDate: 05-04-2011]
Large Cell Carcinoma[accessedResource: NCIt:C3780][accessDate: 05-04-2011]
large cell carcinomas[accessedResource: NCIt:C3780][accessDate: 05-04-2011]
Calf of leg[accessedResource: FMAID:24984][accessDate: 05-04-2011]
Posterior curral region[accessedResource: FMAID:24984][accessDate: 05-04-2011]
Posterior leg region[accessedResource: FMAID:24984][accessDate: 05-04-2011]
Posterior part of leg[accessedResource: FMAID:24984][accessDate: 05-04-2011]
Posterior region of leg[accessedResource: FMAID:24984][accessDate: 05-04-2011]
Sural region[accessedResource: FMAID:24984][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001446 label: fibula
Antebrachial region[accessedResource: FMAID:9663][accessDate: 05-04-2011]
Intermediate segment of free upper limb[accessedResource: FMAID:9663][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000979 label: tibia
M14 cell[accessedResource: BTO:0002805][accessDate: 05-04-2011]
The human melanoma cell line M14 has been established from surgically removed melanoma metastases.
The human melanoma cell line M14 has been established from surgically removed melanoma metastases.[accessedResource: BTO:0002805][accessDate: 05-04-2011]
A group of organs surrounded by loose connective tissue, separating the two pleural sacs, between the sternum anteriorly and the vertebral column posteriorly as well as from the thoracic inlet superiorly to the diaphragm inferiorly. The mediastinum contains the heart and pericardium, the bases of the great vessels, the trachea and bronchi, esophagus, thymus, lymph nodes, thoracic duct, phrenic and vagus nerves, and other structures and tissues.
A group of organs surrounded by loose connective tissue, separating the two pleural sacs, between the sternum anteriorly and the vertebral column posteriorly as well as from the thoracic inlet superiorly to the diaphragm inferiorly. The mediastinum contains the heart and pericardium, the bases of the great vessels, the trachea and bronchi, esophagus, thymus, lymph nodes, thoracic duct, phrenic and vagus nerves, and other structures and tissues.[accessedResource: NCIt:C12748][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003728 label: mediastinum
A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy.
A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy.[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Carcinoma, Non Small Cell Lung[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Carcinoma, Non-Small Cell Lung[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Carcinoma, Non-Small-Cell Lung[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Carcinomas, Non-Small-Cell Lung[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Lung Carcinoma, Non-Small-Cell[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Lung Carcinomas, Non-Small-Cell[accessedResource: MSH:D002289][accessDate: 05-04-2011]
NONSMALL CELL LUNG CARCINOMA[accessedResource: MSH:D002289][accessDate: 05-04-2011]
NSCLC[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Non Small Cell Lung Carcinoma[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Non-Small Cell Lung Cancer[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Non-Small-Cell Lung Carcinoma[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Non-Small-Cell Lung Carcinomas[accessedResource: MSH:D002289][accessDate: 05-04-2011]
Non-small cell lung cancer (disorder)[accessedResource: DOID:3908][accessDate: 05-04-2011]
Any one of the three (common, deep, and superficial) peroneal nerves.
Any one of the three (common, deep, and superficial) peroneal nerves.[accessedResource: NCIt:C52814][accessDate: 05-04-2011]
Terminal segment of free lower limb[accessedResource: FMAID:9664][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001467 label: shoulder
Cubital region[accessedResource: FMAID:24901][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001461 label: elbow
Clunis[accessedResource: FMAID:25245][accessDate: 05-04-2011]
Gluteal part of pelvic girdle[accessedResource: FMAID:25245][accessDate: 05-04-2011]
Gluteal region[accessedResource: FMAID:25245][accessDate: 05-04-2011]
Sacral bone[accessedResource: FMAID:16202][accessDate: 05-04-2011]
Sacrum [sacral vertebrae I - V][accessedResource: FMAID:16202][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003690 label: sacrum
A plasma cell myeloma lacking clinical manifestations and organ impairment.
A plasma cell myeloma lacking clinical manifestations and organ impairment.[accessedResource: NCIt:C7149][accessDate: 05-04-2011]
Asymptomatic Plasma Cell Myeloma[accessedResource: NCIt:C7149][accessDate: 05-04-2011]
Smoldering Myeloma[accessedResource: NCIt:C7149][accessDate: 05-04-2011]
Smoldering Plasma Cell Myeloma[accessedResource: NCIt:C7149][accessDate: 05-04-2011]
Mikkelsen et al. (2007). Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448, 553-560
Xanthomatous deposition (morphologic abnormality)
An epithelial cell lining the thyroid follicle.
An epithelial cell lining the thyroid follicle.[accessedResource: BTO:0003736][accessDate: 05-04-2011]
thyroid epithelial cell[accessedResource: BTO:0003736][accessDate: 05-04-2011]
A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH)
A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH)[accessedResource: NCIt:C12803][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001040 label: yolk sac
A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.[accessedResource: DOID:14179][accessDate: 05-04-2011]
BTK deficiency[accessedResource: DOID:14179][accessDate: 05-04-2011]
Bruton agammaglobulinemia tyrosine kinase deficiency
Bruton agammaglobulinemia tyrosine kinase deficiency[accessedResource: DOID:14179][accessDate: 05-04-2011]
Bruton's Sex-Linked Agammaglobulinemia[accessedResource: DOID:14179][accessDate: 05-04-2011]
Bruton's X-Linked Agammaglobulinemia[accessedResource: NCIt:C3822][accessDate: 05-04-2011]
Bruton's agammaglobulinaemia[accessedResource: DOID:14179][accessDate: 05-04-2011]
Bruton's type agammaglobulinemia[accessedResource: DOID:14179][accessDate: 05-04-2011]
Bruton-type agammaglobulinemia[accessedResource: DOID:14179][accessDate: 05-04-2011]
X-linked agammaglobulinemia (disorder)[accessedResource: DOID:14179][accessDate: 05-04-2011]
X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells.
X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells.[accessedResource: NCIt:C3822][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_142' instead. New Label : X-linked agammaglobulinemia
A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma. It is the rarest liposarcoma variant and usually has an aggressive clinical course.
A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma. It is the rarest liposarcoma variant and usually has an aggressive clinical course.[accessedResource: NCIt:C3705][accessDate: 05-04-2011]
Pleomorphic liposarcoma (disorder)[accessedResource: DOID:5702][accessDate: 05-04-2011]
Pleomorphic liposarcoma (morphologic abnormality)
Pleomorphic liposarcoma (morphologic abnormality)[accessedResource: DOID:5702][accessDate: 05-04-2011]
A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.
A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.[accessedResource: NCIt:C4252][accessDate: 05-04-2011]
Cellular Myxoid Liposarcoma[accessedResource: NCIt:C4252][accessDate: 05-04-2011]
A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component. The non-lipomatous component may be present in the primary lesion or at the site of metastasis.
A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component. The non-lipomatous component may be present in the primary lesion or at the site of metastasis.[accessedResource: NCIt:C3704][accessDate: 05-04-2011]
Dedifferentiated liposarcoma (morphologic abnormality)
use 'http://www.orphanet.org/rdfns#pat_id_13772' instead. New Label : Spinocerebellar ataxia type 1
use 'http://www.orphanet.org/rdfns#pat_id_12567' instead. New Label : Spinocerebellar ataxia type 7
use 'http://www.orphanet.org/rdfns#pat_id_13776' instead. New Label : Spinocerebellar ataxia type 17
Acoustic neurofibromatosis[accessedResource: DOID:8712][accessDate: 05-04-2011]
An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas.
An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas.[accessedResource: NCIt:C6727][accessDate: 05-04-2011]
Neurofibromatosis (morphologic abnormality)
Neurofibromatosis 1[accessedResource: DOID:8712][accessDate: 05-04-2011]
Recklinghausen's neurofibromatosis[accessedResource: DOID:8712][accessDate: 05-04-2011]
central Neurofibromatosis[accessedResource: DOID:8712][accessDate: 05-04-2011]
neurofibromatosis type 1[accessedResource: DOID:8712][accessDate: 05-04-2011]
neurofibromatosis type 2[accessedResource: DOID:8712][accessDate: 05-04-2011]
neurofibromatosis type 4[accessedResource: DOID:8712][accessDate: 05-04-2011]
neurofibromatosis type IV [accessedResource: DOID:8712][accessDate: 05-04-2011]
peripheral Neurofibromatosis[accessedResource: DOID:8712][accessDate: 05-04-2011]
type IV neurofibromatosis of riccardi[accessedResource: DOID:8712][accessDate: 05-04-2011]
von Reklinghausen disease[accessedResource: DOID:8712][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_10528' instead. New Label : Neurofibromatosis
Adrenal cortical carcinoma (morphologic abnormality)
Adrenal cortical carcinoma (morphologic abnormality)[accessedResource: DOID:3948][accessDate: 05-04-2011]
An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland.
An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland.[accessedResource: DOID:3948][accessDate: 05-04-2011]
carcinoma of the Adrenal cortex[accessedResource: DOID:3948][accessDate: 05-04-2011]
ganglioglioma, no ICD-O subtype[accessedResource: DOID:5078][accessDate: 05-04-2011]
A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.
A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.[accessedResource: NCIt:C84444][accessDate: 05-04-2011]
NAFLD - Nonalcoholic Fatty Liver Disease
NAFLD - Nonalcoholic Fatty Liver Disease[accessedResource: NCIt:C84444][accessDate: 05-04-2011]
Nonalcoholic Fatty Liver Disease[accessedResource: NCIt:C84444][accessDate: 05-04-2011]
A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.
A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.[accessedResource: NCIt:C85008][accessDate: 05-04-2011]
Dementia in Pick's disease (disorder)[accessedResource: DOID:11870][accessDate: 05-04-2011]
LOBAR ATROPHY OF BRAIN[accessedResource: DOID:11870][accessDate: 05-04-2011]
PICK DISEASE OF BRAIN[accessedResource: DOID:11870][accessDate: 05-04-2011]
Pick's disease (disorder)[accessedResource: DOID:11870][accessDate: 05-04-2011]
Pick's disease[accessedResource: DOID:11870][accessDate: 05-04-2011]
A tumor of meningothelial cells that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges.
A tumor of meningothelial cells that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges.[accessedResource: DOID:3565][accessDate: 05-04-2011]
meningioma NOS (morphologic abnormality)
meningioma NOS (morphologic abnormality)[accessedResource: DOID:3565][accessDate: 05-04-2011]
meningioma NOS[accessedResource: DOID:3565][accessDate: 05-04-2011]
meningioma, benign, no ICD-O subtype (morphologic abnormality)
meningioma, benign, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3565][accessDate: 05-04-2011]
meningiomas (morphologic abnormality)[accessedResource: DOID:3565][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_1030' instead. New Label : Meningioma
Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.
Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.[accessedResource: DOID:12252][accessDate: 05-04-2011]
Cushing's syndrome NOS (disorder)[accessedResource: DOID:12252][accessDate: 05-04-2011]
Cushing's syndrome NOS[accessedResource: DOID:12252][accessDate: 05-04-2011]
Cushing's syndrome[accessedResource: DOID:12252][accessDate: 05-04-2011]
Suprarenogenic syndrome[accessedResource: DOID:12252][accessDate: 05-04-2011]
pituitary basophilism[accessedResource: DOID:12252][accessDate: 05-04-2011]
A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.
A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.[accessedResource: NCIt:C7328][accessDate: 05-04-2011]
Seminoma of Testis[accessedResource: NCIt:C7328][accessDate: 05-04-2011]
Seminoma of the Testis[accessedResource: NCIt:C7328][accessDate: 05-04-2011]
Testicular Seminoma Pure[accessedResource: NCIt:C7328][accessDate: 05-04-2011]
A bone inflammation disease that results_from infection located_in bone and located_in bone marrow.
A bone inflammation disease that results_from infection located_in bone and located_in bone marrow.[accessedResource: DOID:1019][accessDate: 05-04-2011]
Osteomyelitis of ankle and/or foot (disorder)
Osteomyelitis of ankle and/or foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Osteomyelitis of forearm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Osteomyelitis of hand (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Osteomyelitis of lower leg (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Osteomyelitis of multiple sites (disorder)
Osteomyelitis of multiple sites (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Osteomyelitis of shoulder region (disorder)
Osteomyelitis of shoulder region (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Osteomyelitis of upper arm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified infection of bone of shoulder region
Unspecified infection of bone of shoulder region[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified infection of bone, ankle and foot
Unspecified infection of bone, ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified infection of bone, forearm[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified infection of bone, hand[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified infection of bone, lower leg
Unspecified infection of bone, lower leg[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified infection of bone, upper arm
Unspecified infection of bone, upper arm[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis involving multiple sites
Unspecified osteomyelitis involving multiple sites[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of multiple sites
Unspecified osteomyelitis of multiple sites (disorder)
Unspecified osteomyelitis of multiple sites (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of multiple sites[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the ankle and foot
Unspecified osteomyelitis of the ankle and foot (disorder)
Unspecified osteomyelitis of the ankle and foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the forearm (disorder)
Unspecified osteomyelitis of the forearm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the hand (disorder)
Unspecified osteomyelitis of the hand (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the hand[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the lower leg (disorder)
Unspecified osteomyelitis of the lower leg (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the shoulder region
Unspecified osteomyelitis of the shoulder region (disorder)
Unspecified osteomyelitis of the shoulder region (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the shoulder region[accessedResource: DOID:1019][accessDate: 05-04-2011]
Unspecified osteomyelitis of the upper arm (disorder)
Unspecified osteomyelitis of the upper arm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
acute osteomyelitis involving ankle and foot
acute osteomyelitis involving multiple sites
acute osteomyelitis involving pelvic region and thigh
acute osteomyelitis involving shoulder region
acute osteomyelitis of ankle and/or foot (disorder)
acute osteomyelitis of the ankle and foot
acute osteomyelitis of the ankle and foot (disorder)
acute osteomyelitis[accessedResource: DOID:1019][accessDate: 05-04-2011]
bone infection NOS, of ankle and foot (disorder)
bone infection NOS, of ankle and foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
bone infection NOS, of multiple sites (disorder)
bone infection NOS, of multiple sites (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
bone infection NOS, of the forearm (disorder)
bone infection NOS, of the forearm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
bone infection NOS, of the hand (disorder)
bone infection NOS, of the hand (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
bone infection NOS, of the lower leg (disorder)
bone infection NOS, of the lower leg (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
bone infection NOS, of the shoulder region (disorder)
bone infection NOS, of the shoulder region (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
bone infection NOS, of the upper arm (disorder)
bone infection NOS, of the upper arm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis involving ankle and foot
chronic osteomyelitis involving ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis involving hand[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis involving lower leg
chronic osteomyelitis involving lower leg[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis involving multiple sites
chronic osteomyelitis involving multiple sites[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis involving pelvic region and thigh
chronic osteomyelitis involving pelvic region and thigh[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis involving shoulder region
chronic osteomyelitis involving shoulder region[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis involving upper arm
chronic osteomyelitis involving upper arm[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis of ankle and/or foot (disorder)
chronic osteomyelitis of ankle and/or foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis of the ankle and foot
chronic osteomyelitis of the ankle and foot (disorder)
chronic osteomyelitis of the ankle and foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis of the ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011]
chronic osteomyelitis[accessedResource: DOID:1019][accessDate: 05-04-2011]
osteomyelitis of ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011]
osteomyelitis of forearm[accessedResource: DOID:1019][accessDate: 05-04-2011]
osteomyelitis of hand[accessedResource: DOID:1019][accessDate: 05-04-2011]
osteomyelitis of lower leg[accessedResource: DOID:1019][accessDate: 05-04-2011]
osteomyelitis of multiple sites[accessedResource: DOID:1019][accessDate: 05-04-2011]
osteomyelitis of shoulder region[accessedResource: DOID:1019][accessDate: 05-04-2011]
osteomyelitis of upper arm[accessedResource: DOID:1019][accessDate: 05-04-2011]
A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.
A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.[accessedResource: NCIt:C50791][accessDate: 05-04-2011]
INFECTION, URINARY TRACT[accessedResource: NCIt:C50791][accessDate: 05-04-2011]
TRACT, INFECTION OF URINARY[accessedResource: NCIt:C50791][accessDate: 05-04-2011]
Adrenal cortical adenoma NOS (morphologic abnormality)
Adrenal cortical adenoma, no ICD-O subtype (morphologic abnormality)
A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.[accessedResource: DOID:552][accessDate: 05-04-2011]
Pneumonia due to other specified organism
Pneumonia due to other specified organisms
Pneumonia due to other specified organisms (disorder)
Pneumonitis[accessedResource: DOID:552][accessDate: 05-04-2011]
acute pneumonia[accessedResource: DOID:552][accessDate: 05-04-2011]
obsolete_spinal muscular atrophy with respiratory distress
spinal muscular atrophy with respiratory distress type 1
use 'http://www.orphanet.org/rdfns#pat_id_13937' instead. New Label : Spinal muscular atrophy with respiratory distress
Essential tremor (finding)[accessedResource: DOID:4990][accessDate: 05-04-2011]
benign essential tremor (disorder) [Ambiguous]
benign essential tremor (disorder) [Ambiguous][accessedResource: DOID:4990][accessDate: 05-04-2011]
benign essential tremor[accessedResource: DOID:4990][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_11390' instead. New Label : Alopecia
Inflammation of chorionic villi[accessedResource: SNOMEDCT:388604008][accessDate: 05-04-2011]
Villitis (disorder)[accessedResource: SNOMEDCT:388604008][accessDate: 05-04-2011]
Villositis[accessedResource: SNOMEDCT:388604008][accessDate: 05-04-2011]
A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.
use 'http://www.orphanet.org/rdfns#pat_id_650' instead. New Label : Neuronal ceroid lipofuscinosis
obsolete_late infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life.
Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life.[accessedResource: NCIt:C85864][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_17766' instead. New Label : Late infantile neuronal ceroid lipofuscinosis
obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
use 'http://www.orphanet.org/rdfns#pat_id_2523' instead. New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy
pauciarticular juvenile rheumatoid arthritis
Amyloid neoplasm[accessedResource: DOID:675][accessDate: 05-04-2011]
Amyloid tumor (morphologic abnormality)[accessedResource: DOID:675][accessDate: 05-04-2011]
Pauciarticular juvenile rheumatoid arthritis (disorder)
Pauciarticular onset juvenile chronic arthritis
amyloid tumor[accessedResource: DOID:675][accessDate: 05-04-2011]
CLIP-Seq also called RIP-Seq or HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein.
Weak heart[accessedResource: DOID:6000][accessDate: 05-04-2011]
High output heart failure (disorder)[accessedResource: SNOMEDCT:10091002][accessDate: 05-04-2011]
A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.
A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Afro American[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
BLACK OR AFRICAN AMERICAN[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Black Populations[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Black[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Asians[accessedResource: NCIt:C41260][accessDate: 05-04-2011]
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.[accessedResource: NCIt:C41260][accessDate: 05-04-2011]
Asian Indians[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
Indian[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.
Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.[accessedResource: NCIt:C41219][accessDate: 05-04-2011]
Native Hawaiian or Other Pacific Islander
Native Hawaiian or Other Pacific Islander[accessedResource: NCIt:C41219][accessDate: 05-04-2011]
Caucasians[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
Caucasoid[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White.
Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White.[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
Occidental[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
White[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
Whites[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
Denotes the inhabitants of China, a person from there, or their descendants elsewhere.
Denotes the inhabitants of China, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43391][accessDate: 05-04-2011]
Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.
Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43393][accessDate: 05-04-2011]
Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)
Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.
Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43869][accessDate: 05-04-2011]
Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.
Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43856][accessDate: 05-04-2011]
Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.
Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43392][accessDate: 05-04-2011]
Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.
Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43395][accessDate: 05-04-2011]
A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.
A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Hispanic Populations[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Hispanic or Latino[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Hispanic[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Pima[accessedResource: NCIt:C44085][accessDate: 05-04-2011]
Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.
Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43394][accessDate: 05-04-2011]
Native Hawaiian[accessedResource: NCIt:C43394][accessDate: 05-04-2011]
Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein.
Thrombin is a "trypsin-like" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions.
Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/ɨˌrɪθrɵˈpɔɪ.ɨtɨn/, /ɨˌrɪθrɵˈpɔɪtən/, or /ɨˌriːθrɵ-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow.
Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]
Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus.
Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-α) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well.
Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels. When VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases. VEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature).
Hereregulin b1 is a signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells.
.[accessedResource: FBbt:00000186][accessDate: 05-04-2011]
Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10).
Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10).[accessedResource: FBbt:00000197][accessDate: 05-04-2011]
embryonic posterior spiracle[accessedResource: FBbt:00000197][accessDate: 05-04-2011]
Imaginal disc that is a precursor of ventral thoracic structures of the adult.
Imaginal disc that is a precursor of ventral thoracic structures of the adult.[accessedResource: FBbt:00001780][accessDate: 05-04-2011]
ventral thoracic disk[accessedResource: FBbt:00001780][accessDate: 05-04-2011]
P2 TrachP[accessedResource: FBbt:00005037][accessDate: 05-04-2011]
Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16.
Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16.[accessedResource: FBbt:00005037][accessDate: 05-04-2011]
.[accessedResource: FBbt:00005466][accessDate: 05-04-2011]
.[accessedResource: FBbt:00017000][accessDate: 05-04-2011]
Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut.
Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut.[accessedResource: FBbt:00017003][accessDate: 05-04-2011]
embryonic visceral branch[accessedResource: FBbt:00017003][accessDate: 05-04-2011]
visceral branch specific anlage[accessedResource: FBbt:00017003][accessDate: 05-04-2011]
This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium.
This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium.[accessedResource: FBbt:00017008][accessDate: 05-04-2011]
longitudinal visceral mesoderm primordium
Primordium that develops into a primary trachea.
Primordium that develops into a primary trachea.[accessedResource: FBbt:00017011][accessDate: 05-04-2011]
primary segmental branch specific anlage
A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12.
A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12.[accessedResource: FBbt:00017020][accessDate: 05-04-2011]
The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body).
The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body).[accessedResource: FBbt:00005067][accessDate: 05-04-2011]
Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells.
Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells.[accessedResource: FBbt:00005518][accessDate: 05-04-2011]
stomatogastric nervous system primordium
.[accessedResource: FBbt:00005542][accessDate: 05-04-2011]
.[accessedResource: FBbt:00016000][accessDate: 05-04-2011]
.[accessedResource: FBbt:00016001][accessDate: 05-04-2011]
A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci.
A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci.[accessedResource: FBbt:00001722][accessDate: 05-04-2011]
A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum.
A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum.[accessedResource: FBbt:00001724][accessDate: 05-04-2011]
Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve.
Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve.[accessedResource: FBbt:00002665][accessDate: 05-04-2011]
Bulbous, distal-most segment of the haltere.
Bulbous, distal-most segment of the haltere.[accessedResource: FBbt:00004784][accessDate: 05-04-2011]
Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium.
Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium.[accessedResource: FBbt:00005554][accessDate: 05-04-2011]
embryonic proventriculus intermediate layer
labral sensory complex[accessedResource: FBbt:00005617][accessDate: 05-04-2011]
Cell at the leading edge of the dorsal epidermis during dorsal closure.
Cell at the leading edge of the dorsal epidermis during dorsal closure.[accessedResource: FBbt:00005746][accessDate: 05-04-2011]
.[accessedResource: FBbt:00017009][accessDate: 05-04-2011]
.[accessedResource: FBbt:00017019][accessDate: 05-04-2011]
A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle.
A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle.[accessedResource: ZFA:0000023][accessDate: 05-04-2011]
DFCs[accessedResource: ZFA:0000023][accessDate: 05-04-2011]
dorsal forerunner cells[accessedResource: ZFA:0000023][accessDate: 05-04-2011]
forerunner cells[accessedResource: ZFA:0000023][accessDate: 05-04-2011]
Neurogenic placode that gives rise to the olfactory neurons that which convey odor information to the CNS.
Neurogenic placode that gives rise to the olfactory neurons that which convey odor information to the CNS.[accessedResource: ZFA:0000048][accessDate: 05-04-2011]
olfactory placodes[accessedResource: ZFA:0000048][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003050 label: olfactory placode
presumptive segmental plates[accessedResource: ZFA:0000053][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007282 label: presumptive segmental plate
The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period.
The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period.[accessedResource: ZFA:0000058][accessDate: 05-04-2011]
pillow[accessedResource: ZFA:0000058][accessDate: 05-04-2011]
presumptive prosencephalon[accessedResource: ZFA:0000062][accessDate: 05-04-2011]
Region of the gastrula which gives rise to the neural plate.
Region of the gastrula which gives rise to the neural plate.[accessedResource: ZFA:0000063][accessDate: 05-04-2011]
presumptive central nervous system[accessedResource: ZFA:0000063][accessDate: 05-04-2011]
prospective neuroectoderm[accessedResource: ZFA:0000063][accessDate: 05-04-2011]
prospective vegetal ectoderm[accessedResource: ZFA:0000063][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007284 label: presumptive neural plate
EVL[accessedResource: ZFA:0000086][accessDate: 05-04-2011]
Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm.
Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm.[accessedResource: ZFA:0000086][accessDate: 05-04-2011]
chordamesoderm[accessedResource: ZFA:0000091][accessDate: 05-04-2011]
presumptive notochord[accessedResource: ZFA:0000091][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002541 label: germ ring
liver bud[accessedResource: ZFA:0000124][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003894 label: liver primordium
Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the mid-segmentation period. (Also see Anatomical Atlas entry for ear by T. Whitfield.)
Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the mid-segmentation period. (Also see Anatomical Atlas entry for ear by T. Whitfield.)[accessedResource: ZFA:0000138][accessDate: 05-04-2011]
Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. (Also see Anatomical Atlas entry for ear by T. Whitfield.)
Use http://purl.obolibrary.org/obo/UBERON_0003069 Label: otic placode
pectoral fin buds[accessedResource: ZFA:0000141][accessDate: 05-04-2011]
brain rudiment[accessedResource: ZFA:0000146][accessDate: 05-04-2011]
presumptive mesencephalon[accessedResource: ZFA:0000148][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0009616 label: presumptive midbrain
The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period.
The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period.[accessedResource: ZFA:0000162][accessDate: 05-04-2011]
trigeminal placodes[accessedResource: ZFA:0000162][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003070 label: trigeminal placode
Use http://purl.obolibrary.org/obo/UBERON_0003921 label: pancreas primordium
Use http://purl.obolibrary.org/obo/UBERON_0006595 label: presumptive endoderm
presumptive spinal cord neural keel[accessedResource: ZFA:0000417][accessDate: 05-04-2011]
presumptive spinal cord neural plate[accessedResource: ZFA:0000417][accessDate: 05-04-2011]
presumptive spinal cord neural rod[accessedResource: ZFA:0000417][accessDate: 05-04-2011]
Use http://purl.obolibr ary.org/obo/UBERON_0006596 label: presumptive blood
presumptive rhombencephalon[accessedResource: ZFA:0000569][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007277 label: presumptive hindbrain
Use http://purl.obolibrary.org/obo/UBERON_0007285 label: presumptive paraxial mesoderm
Use http://purl.obolibrary.org/obo/UBERON_0007283 label: presumptive shield
posterior lateral line placodes[accessedResource: ZFA:0001156][accessDate: 05-04-2011]
obsolete_presumptive midbrain hindbrain boundary
presumptive midbrain-hindbrain boundary[accessedResource: ZFA:0001187][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007281 label: presumptive midbrain hindbrain boundary
Use http://purl.obolibrary.org/obo/UBERON_0007294 label: presumptive rhombomere 7
Use http://purl.obolibrary.org/obo/UBERON_0007293 label:presumptive rhombomere 6
Use http://purl.obolibrary.org/obo/UBERON_0007292 label: presumptive rhombomere 5
Use http://purl.obolibrary.org/obo/UBERON_0007291 label: presumptive rhombomere 4
Use http://purl.obolibrary.org/obo/UBERON_0007290 label: presumptive rhombomere 3
Use http://purl.obolibrary.org/obo/UBERON_0007295 label: presumptive rhombomere 8
Use http://purl.obolibrary.org/obo/UBERON_0006599 label; presumptive hypochord
Part of the neural plate fated to become floor plate.
Part of the neural plate fated to become floor plate.[accessedResource: ZFA:0001218][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007286 label: presumptive floor plate
Neurogenic placodes that generate neurons of the distal facial, glossopharyngeal and vagal ganglia, which convey sensation from the viscera, including pharyngeal endoderm structures, to the CNS. The epibranchial placodes are positioned ventrally to the ear and dorsally to the posterior pharyngeal pouches
Neurogenic placodes that generate neurons of the distal facial, glossopharyngeal and vagal ganglia, which convey sensation from the viscera, including pharyngeal endoderm structures, to the CNS. The epibranchial placodes are positioned ventrally to the ear and dorsally to the posterior pharyngeal pouches[accessedResource: ZFA:0001294][accessDate: 05-04-2011]
epibranchial placodes[accessedResource: ZFA:0001294][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003078 label: epibranchial placode
Epibranchial placode that gives rise to vagal ganglion 1.
Epibranchial placode that gives rise to vagal ganglion 1.[accessedResource: ZFA:0001297][accessDate: 05-04-2011]
Epibranchial placode that gives rise to vagal ganglion 2.
Epibranchial placode that gives rise to vagal ganglion 2.[accessedResource: ZFA:0001298][accessDate: 05-04-2011]
Epibranchial placode that gives rise to vagal ganglion 3.
Epibranchial placode that gives rise to vagal ganglion 3.[accessedResource: ZFA:0001299][accessDate: 05-04-2011]
Epibranchial placode that gives rise to vagal ganglion 4.
Epibranchial placode that gives rise to vagal ganglion 4.[accessedResource: ZFA:0001300][accessDate: 05-04-2011]
Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia
Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia.[accessedResource: ZFA:0001309][accessDate: 05-04-2011]
neurogenic placodes[accessedResource: ZFA:0001309][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0009955 label: neurogenic placode
anterior lateral line placodes[accessedResource: ZFA:0001316][accessDate: 05-04-2011]
obsolete_presumptive enteric nervous system
Use http://purl.obolibrary.org/obo/UBERON_0006600 label: presumptive enteric nervous system
obsolete_presumptive forebrain midbrain boundary
Use http://purl.obolibrary.org/obo/UBERON_0007288 label: presumptive forebrain midbrain boundary
ventral pancreatic anlage[accessedResource: ZFA:0001369][accessDate: 05-04-2011]
dorsal pancreatic anlage[accessedResource: ZFA:0001370][accessDate: 05-04-2011]
Presumptive structure at the animal poll of the blastula that will develop into ectoderm via the epiblast. Determined by fate mapping.
Presumptive structure at the animal poll of the blastula that will develop into ectoderm via the epiblast. Determined by fate mapping.[accessedResource: ZFA:0001376][accessDate: 05-04-2011]
presumptive epidermis[accessedResource: ZFA:0001376][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0006601 label: presumptive ectoderm
Use http://purl.obolibrary.org/obo/UBERON_0006603 label: presumptive mesoderm
fin buds[accessedResource: ZFA:0001383][accessDate: 05-04-2011]
pelvic fin buds[accessedResource: ZFA:0001384][accessDate: 05-04-2011]
pancreatic buds[accessedResource: ZFA:0001390][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003922 label: pancreatic bud
CA[accessedResource: ZFA:0000011][accessDate: 05-04-2011]
Extension of the dorsal aorta in the tail.
Extension of the dorsal aorta in the tail.[accessedResource: ZFA:0000011][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003086 label: caudal artery
Multi-tissue structure that is the ventral-most aspect of the developing neural tube. The floor plate is a specialized glial structure that spans the rostral-caudal axis from the midbrain to the tail regions.
Multi-tissue structure that is the ventral-most aspect of the developing neural tube. The floor plate is a specialized glial structure that spans the rostral-caudal axis from the midbrain to the tail regions.[accessedResource: ZFA:0000022][accessDate: 05-04-2011]
flexural organ[accessedResource: ZFA:0000022][accessDate: 05-04-2011]
floorplate[accessedResource: ZFA:0000022][accessDate: 05-04-2011]
fp[accessedResource: ZFA:0000022][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003079 label: floor plate
Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity. The macula utricle covers most of the floor of the utricle.
Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity. The macula utricle covers most of the floor of the utricle.[accessedResource: ZFA:0000030][accessDate: 05-04-2011]
maculae utricle[accessedResource: ZFA:0000030][accessDate: 05-04-2011]
Portion of tissue that arises from the arise from the lateral edges of the shield and is located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived.
Portion of tissue that arises from the arise from the lateral edges of the shield and is located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived.[accessedResource: ZFA:0000031][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003058 label: hypochord
ICM[accessedResource: ZFA:0000033][accessDate: 05-04-2011]
intermediate cell mass of Oellacher[accessedResource: ZFA:0000033][accessDate: 05-04-2011]
posterior intermediate cell mass[accessedResource: ZFA:0000033][accessDate: 05-04-2011]
median fin[accessedResource: ZFA:0000040][accessDate: 05-04-2011]
POC[accessedResource: ZFA:0000059][accessDate: 05-04-2011]
post optic commissure[accessedResource: ZFA:0000059][accessDate: 05-04-2011]
post-optic commissure[accessedResource: ZFA:0000059][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003936 label: postoptic commissure
Use http://purl.obolibrary.org/obo/UBERON_0005721 label: pronephric mesoderm
Hindbrain segment or neuromere.[accessedResource: ZFA:0000069][accessDate: 05-04-2011]
r6[accessedResource: ZFA:0000069][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005519 label: rhombomere 6
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000072][accessDate: 05-04-2011]
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000073][accessDate: 05-04-2011]
The swim bladder is a double-chambered organ located in the coelom and used to maintain buoyancy and may function as an acoustic resonator. The zebrafish does not appear to have a gas gland, but it is not yet clear if there are gas producing cells distributed more widely.
The swim bladder is a double-chambered organ located in the coelom and used to maintain buoyancy and may function as an acoustic resonator. The zebrafish does not appear to have a gas gland, but it is not yet clear if there are gas producing cells distributed more widely.[accessedResource: ZFA:0000076][accessDate: 05-04-2011]
gas bladder[accessedResource: ZFA:0000076][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0006860 label: swim bladder
Cranial neural crest which gives rise to the trigeminal ganglion.[accessedResource: ZFA:0000080][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005563 label: trigeminal neural crest
Use http://purl.obolibrary.org/obo/UBERON_0005256 label: trunk mesenchyme
apical ectodermal ridge pectoral fin bud
AER pectoral fin[accessedResource: ZFA:0000085][accessDate: 05-04-2011]
Apical ectodermal ridge that is part of the pectoral fin bud.
Apical ectodermal ridge that is part of the pectoral fin bud.[accessedResource: ZFA:0000085][accessDate: 05-04-2011]
apical ectodermal ridge pectoral fin buds
apical ectodermal ridge pectoral fin buds[accessedResource: ZFA:0000085][accessDate: 05-04-2011]
apical ectodermal ridge pectoral fin[accessedResource: ZFA:0000085][accessDate: 05-04-2011]
apical ectodermal ridge pectoral fins[accessedResource: ZFA:0000085][accessDate: 05-04-2011]
apical fold pectoral fin[accessedResource: ZFA:0000085][accessDate: 05-04-2011]
Apical ectodermal ridge that is part of the dorsal fin.
Apical ectodermal ridge that is part of the dorsal fin.[accessedResource: ZFA:0000090][accessDate: 05-04-2011]
Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension.
Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension.[accessedResource: ZFA:0000094][accessDate: 05-04-2011]
blood islands[accessedResource: ZFA:0000094][accessDate: 05-04-2011]
caudal hematopoietic tissue[accessedResource: ZFA:0000094][accessDate: 05-04-2011]
posterior ICM[accessedResource: ZFA:0000094][accessDate: 05-04-2011]
posterior blood island[accessedResource: ZFA:0000094][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003061 label: blood island
Use http://purl.obolibrary.org/obo/UBERON_0005284 label: brain vasculature
Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)
Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)[accessedResource: ZFA:0000113][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005253 label: head mesenchyme
lateral line ganglia[accessedResource: ZFA:0000120][accessDate: 05-04-2011]
llg[accessedResource: ZFA:0000120][accessDate: 05-04-2011]
Ectodermal primordium of the lens of the eye.
Ectodermal primordium of the lens of the eye.[accessedResource: ZFA:0000122][accessDate: 05-04-2011]
lens placodes[accessedResource: ZFA:0000122][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003073 label: lens placode
Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000125][accessDate: 05-04-2011]
neuromast mandibular[accessedResource: ZFA:0000125][accessDate: 05-04-2011]
neuromasts mandibular[accessedResource: ZFA:0000125][accessDate: 05-04-2011]
nasal canal[accessedResource: ZFA:0000130][accessDate: 05-04-2011]
nasal cavity[accessedResource: ZFA:0000130][accessDate: 05-04-2011]
nasal pit[accessedResource: ZFA:0000130][accessDate: 05-04-2011]
olfactory cavity[accessedResource: ZFA:0000130][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005870 label: olfactory pit
An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section.[accessedResource: ZFA:0000131][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007135 label: neural keel
An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube.
An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube.[accessedResource: ZFA:0000133][accessDate: 05-04-2011]
use http://purl.obolibrary.org/obo/UBERON_0005068 label: neural rod
Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000136][accessDate: 05-04-2011]
neuromast otic[accessedResource: ZFA:0000136][accessDate: 05-04-2011]
neuromasts otic[accessedResource: ZFA:0000136][accessDate: 05-04-2011]
Hindbrain segment or neuromere.[accessedResource: ZFA:0000153][accessDate: 05-04-2011]
r8[accessedResource: ZFA:0000153][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005527 label: rhombomere 8
cerebral aquaduct[accessedResource: ZFA:0000159][accessDate: 05-04-2011]
medial tectal ventricle[accessedResource: ZFA:0000159][accessDate: 05-04-2011]
mesencephalic ventricle[accessedResource: ZFA:0000159][accessDate: 05-04-2011]
mesencephalic vesicle[accessedResource: ZFA:0000159][accessDate: 05-04-2011]
midbrain ventricle[accessedResource: ZFA:0000159][accessDate: 05-04-2011]
Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials.
Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials.[accessedResource: ZFA:0000170][accessDate: 05-04-2011]
basibranchials[accessedResource: ZFA:0000170][accessDate: 05-04-2011]
branchial muscles[accessedResource: ZFA:0000172][accessDate: 05-04-2011]
Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches.
Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches.[accessedResource: ZFA:0000173][accessDate: 05-04-2011]
cardiac outflow tract[accessedResource: ZFA:0000173][accessDate: 05-04-2011]
outflow tract[accessedResource: ZFA:0000173][accessDate: 05-04-2011]
truncus[accessedResource: ZFA:0000173][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004152 label: bulbus arteriosus
Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines.
Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines.[accessedResource: ZFA:0000175][accessDate: 05-04-2011]
caudal lateral line nerve[accessedResource: ZFA:0000175][accessDate: 05-04-2011]
Transversely oriented bone connecting the occipital region of the skull dorsally and pectoral girdle ventrally; appears near the end of embryogenesis.
Transversely oriented bone connecting the occipital region of the skull dorsally and pectoral girdle ventrally; appears near the end of embryogenesis.[accessedResource: ZFA:0000184][accessDate: 05-04-2011]
cleithra[accessedResource: ZFA:0000184][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004741 label: cleithrum
Dermal bone that forms the antero-lateral part of the lower jaw. It first appears around the anterior end of Meckel's cartilage (5.1 mm NL). In the adult, the dentary meets its counterpart anteriorly at the mandibular symphysis. The dentary abuts the retroarticular posteriorly, and it surround the anguloarticular. The dentary is connected to the maxilla by the maxillo-mandibular ligament. Dentary teeth are absent in cypriniforms, but are present in other ostariophysans.
Dermal bone that forms the antero-lateral part of the lower jaw. It first appears around the anterior end of Meckel's cartilage (5.1 mm NL). In the adult, the dentary meets its counterpart anteriorly at the mandibular symphysis. The dentary abuts the retroarticular posteriorly, and it surround the anguloarticular. The dentary is connected to the maxilla by the maxillo-mandibular ligament. Dentary teeth are absent in cypriniforms, but are present in other ostariophysans.[accessedResource: ZFA:0000191][accessDate: 05-04-2011]
dentary bone[accessedResource: ZFA:0000191][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004742 label: dentary
Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain.
Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000212][accessDate: 05-04-2011]
eminentia granularis[accessedResource: ZFA:0000212][accessDate: 05-04-2011]
lateral granular eminence[accessedResource: ZFA:0000212][accessDate: 05-04-2011]
Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales.
Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales.[accessedResource: ZFA:0000226][accessDate: 05-04-2011]
lateral ethmoids[accessedResource: ZFA:0000226][accessDate: 05-04-2011]
mandibular muscles[accessedResource: ZFA:0000236][accessDate: 05-04-2011]
The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit.
The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit.[accessedResource: ZFA:0000240][accessDate: 05-04-2011]
metapterygoids[accessedResource: ZFA:0000240][accessDate: 05-04-2011]
Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000243][accessDate: 05-04-2011]
lateral line neuromast[accessedResource: ZFA:0000243][accessDate: 05-04-2011]
lateral line organ[accessedResource: ZFA:0000243][accessDate: 05-04-2011]
neuromasts[accessedResource: ZFA:0000243][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0008904 label: neuromast
Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series.
Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series.[accessedResource: ZFA:0000250][accessDate: 05-04-2011]
opercles[accessedResource: ZFA:0000250][accessDate: 05-04-2011]
Mesoderm which is lateral to the neural tube on both sides.
Mesoderm which is lateral to the neural tube on both sides.[accessedResource: ZFA:0000255][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003077 label: paraxial mesoderm
Cartilage which is part of the pectoral fin.
Cartilage which is part of the pectoral fin.[accessedResource: ZFA:0000257][accessDate: 05-04-2011]
pectoral fin cartilages[accessedResource: ZFA:0000257][accessDate: 05-04-2011]
Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle.
Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle.[accessedResource: ZFA:0000264][accessDate: 05-04-2011]
preopercles[accessedResource: ZFA:0000264][accessDate: 05-04-2011]
Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for hair cells by T. Whitfield.)
Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for hair cells by T. Whitfield.)[accessedResource: ZFA:0000281][accessDate: 05-04-2011]
sensory hair cells posterior macula[accessedResource: ZFA:0000281][accessDate: 05-04-2011]
Dermal bone lying below the opercle. The subopercle is a paired bone.
Dermal bone lying below the opercle. The subopercle is a paired bone.[accessedResource: ZFA:0000284][accessDate: 05-04-2011]
subopercles[accessedResource: ZFA:0000284][accessDate: 05-04-2011]
medial octavolateralis nuclei[accessedResource: ZFA:0000291][accessDate: 05-04-2011]
Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain.
Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000294][accessDate: 05-04-2011]
lateral torus[accessedResource: ZFA:0000294][accessDate: 05-04-2011]
Brain structure which is the ventral part of the telencephalon and is consists of periventricular nuclei surrounding the unpaired median ventricle and those which have migrated away from the ependyma. From Neuroanatomy of the Zebrafish Brain.
Brain structure which is the ventral part of the telencephalon and is consists of periventricular nuclei surrounding the unpaired median ventricle and those which have migrated away from the ependyma. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000304][accessDate: 05-04-2011]
area ventralis telencephali[accessedResource: ZFA:0000304][accessDate: 05-04-2011]
subpallium[accessedResource: ZFA:0000304][accessDate: 05-04-2011]
The portion of the YSL that is outside of the blastoderm margin during epiboly.
The portion of the YSL that is outside of the blastoderm margin during epiboly.[accessedResource: ZFA:0000309][accessDate: 05-04-2011]
external yolk syncytial layer[accessedResource: ZFA:0000309][accessDate: 05-04-2011]
Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ.
Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ.[accessedResource: ZFA:0000351][accessDate: 05-04-2011]
ethmoid region[accessedResource: ZFA:0000351][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003112 label: olfactory region
Cavitated compound organ that will become the adult heart following looping morphogenesis and valve formation.
Cavitated compound organ that will become the adult heart following looping morphogenesis and valve formation.[accessedResource: ZFA:0000360][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004141 label: heart tube
Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves.
Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves.[accessedResource: ZFA:0000419][accessDate: 05-04-2011]
pterosphenoids[accessedResource: ZFA:0000419][accessDate: 05-04-2011]
The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly.
The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly.[accessedResource: ZFA:0000422][accessDate: 05-04-2011]
retroarticulars[accessedResource: ZFA:0000422][accessDate: 05-04-2011]
ALLn[accessedResource: ZFA:0000425][accessDate: 05-04-2011]
Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain.
Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000425][accessDate: 05-04-2011]
nervi lineae lateralis anterioris[accessedResource: ZFA:0000425][accessDate: 05-04-2011]
rostral lateral line nerve[accessedResource: ZFA:0000425][accessDate: 05-04-2011]
The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate.
The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate.[accessedResource: ZFA:0000467][accessDate: 05-04-2011]
articular[accessedResource: ZFA:0000467][accessDate: 05-04-2011]
body musculature[accessedResource: ZFA:0000473][accessDate: 05-04-2011]
Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells.
Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells.[accessedResource: ZFA:0000475][accessDate: 05-04-2011]
PVO[accessedResource: ZFA:0000475][accessDate: 05-04-2011]
Diencephalic nucleus which is located posterior to the paraventricular organ.
Diencephalic nucleus which is located posterior to the paraventricular organ.[accessedResource: ZFA:0000482][accessDate: 05-04-2011]
posterior tuberal nucleus[accessedResource: ZFA:0000482][accessDate: 05-04-2011]
Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain.
Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000505][accessDate: 05-04-2011]
area dorsalis telencephali[accessedResource: ZFA:0000505][accessDate: 05-04-2011]
dorsal telencephalic area[accessedResource: ZFA:0000505][accessDate: 05-04-2011]
periventricular grey zones[accessedResource: ZFA:0000516][accessDate: 05-04-2011]
hyoid muscles[accessedResource: ZFA:0000521][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005493 label: hyoid muscle
Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres.
Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres.[accessedResource: ZFA:0000541][accessDate: 05-04-2011]
marginal blastomeres[accessedResource: ZFA:0000541][accessDate: 05-04-2011]
Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal.
Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal.[accessedResource: ZFA:0000549][accessDate: 05-04-2011]
postemporal[accessedResource: ZFA:0000549][accessDate: 05-04-2011]
Cavitated compound organ that is a fluid filed chamber with a maculae on one surface and associated otolith tethered to the maculae..
Cavitated compound organ that is a fluid filed chamber with a maculae on one surface and associated otolith tethered to the maculae..[accessedResource: ZFA:0000559][accessDate: 05-04-2011]
otolith organs[accessedResource: ZFA:0000559][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002518 label: otolith organ
Portion of tissue that is part of the anterior neural keel and will form the optic vesicle.
Portion of tissue that is part of the anterior neural keel and will form the optic vesicle.[accessedResource: ZFA:0000570][accessDate: 05-04-2011]
eye field[accessedResource: ZFA:0000570][accessDate: 05-04-2011]
Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves.
Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves.[accessedResource: ZFA:0000575][accessDate: 05-04-2011]
prootics[accessedResource: ZFA:0000575][accessDate: 05-04-2011]
The sensory ganglion of the ear. (See Anatomical Atlas entry for statoacoustic ganglion by T. Whitfield.)
The sensory ganglion of the ear. (See Anatomical Atlas entry for statoacoustic ganglion by T. Whitfield.)[accessedResource: ZFA:0000588][accessDate: 05-04-2011]
auditory ganglion[accessedResource: ZFA:0000588][accessDate: 05-04-2011]
gVIII[accessedResource: ZFA:0000588][accessDate: 05-04-2011]
sag[accessedResource: ZFA:0000588][accessDate: 05-04-2011]
statoacoustic ganglia[accessedResource: ZFA:0000588][accessDate: 05-04-2011]
Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input.
Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input.[accessedResource: ZFA:0000599][accessDate: 05-04-2011]
Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain.
Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000603][accessDate: 05-04-2011]
valvula cerebellum[accessedResource: ZFA:0000603][accessDate: 05-04-2011]
Connective tissue partitions developing between the myotomes.
Connective tissue partitions developing between the myotomes.[accessedResource: ZFA:0000610][accessDate: 05-04-2011]
transverse myoseptum[accessedResource: ZFA:0000610][accessDate: 05-04-2011]
The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei.
The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei.[accessedResource: ZFA:0000621][accessDate: 05-04-2011]
quadrates[accessedResource: ZFA:0000621][accessDate: 05-04-2011]
Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage.
Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage.[accessedResource: ZFA:0000627][accessDate: 05-04-2011]
caudal ceratohyal[accessedResource: ZFA:0000627][accessDate: 05-04-2011]
posterior ceratohyal[accessedResource: ZFA:0000627][accessDate: 05-04-2011]
Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain.
Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000633][accessDate: 05-04-2011]
posterior tubercle[accessedResource: ZFA:0000633][accessDate: 05-04-2011]
posterior tuberculum[accessedResource: ZFA:0000633][accessDate: 05-04-2011]
nucleus octavus descendens[accessedResource: ZFA:0000645][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_2000648 Label: dorsal fin musculature
The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate. It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate.
The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate. It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate.[accessedResource: ZFA:0000656][accessDate: 05-04-2011]
ectopterygoids[accessedResource: ZFA:0000656][accessDate: 05-04-2011]
The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL).
The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL).[accessedResource: ZFA:0000657][accessDate: 05-04-2011]
endopterygoid[accessedResource: ZFA:0000657][accessDate: 05-04-2011]
mesopterygoid[accessedResource: ZFA:0000657][accessDate: 05-04-2011]
Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure.[accessedResource: ZFA:0000667][accessDate: 05-04-2011]
gill filaments[accessedResource: ZFA:0000667][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0009120 label: gill filament
A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses.
A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses.[accessedResource: ZFA:0000671][accessDate: 05-04-2011]
horizontal septum[accessedResource: ZFA:0000671][accessDate: 05-04-2011]
The hyomandibula is the large, dorsal-most member of the hyoid arch. It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints. A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle.
The hyomandibula is the large, dorsal-most member of the hyoid arch. It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints. A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle.[accessedResource: ZFA:0000672][accessDate: 05-04-2011]
hyomandibular[accessedResource: ZFA:0000672][accessDate: 05-04-2011]
Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone.
Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone.[accessedResource: ZFA:0000674][accessDate: 05-04-2011]
interopercles[accessedResource: ZFA:0000674][accessDate: 05-04-2011]
segmental intercostal arteries[accessedResource: ZFA:0000677][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_2000677 label: segmental intercostal artery
Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for hair cells by T. Whitfield.)
Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for hair cells by T. Whitfield.)[accessedResource: ZFA:0000678][accessDate: 05-04-2011]
sensory hair cells anterior macula[accessedResource: ZFA:0000678][accessDate: 05-04-2011]
The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate.
The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate.[accessedResource: ZFA:0000692][accessDate: 05-04-2011]
symplectics[accessedResource: ZFA:0000692][accessDate: 05-04-2011]
lateral ventricle[accessedResource: ZFA:0000696][accessDate: 05-04-2011]
telencephalic vesicle[accessedResource: ZFA:0000696][accessDate: 05-04-2011]
The portion of the YSL that lies deep to the blastoderm during epiboly.
The portion of the YSL that lies deep to the blastoderm during epiboly.[accessedResource: ZFA:0000712][accessDate: 05-04-2011]
internal yolk syncytial layer[accessedResource: ZFA:0000712][accessDate: 05-04-2011]
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000726][accessDate: 05-04-2011]
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000728][accessDate: 05-04-2011]
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000732][accessDate: 05-04-2011]
Portion of tissue that is dorsolateral to the floor plate and part of the midbrain.[accessedResource: ZFA:0000761][accessDate: 05-04-2011]
Floor plate that is part of the rhombomere 2.
Floor plate that is part of the rhombomere 2.[accessedResource: ZFA:0000763][accessDate: 05-04-2011]
floor plate r2[accessedResource: ZFA:0000763][accessDate: 05-04-2011]
floorplate r2[accessedResource: ZFA:0000763][accessDate: 05-04-2011]
Floor plate that is part of the rhombomere 5.
Floor plate that is part of the rhombomere 5.[accessedResource: ZFA:0000764][accessDate: 05-04-2011]
floor plate r5[accessedResource: ZFA:0000764][accessDate: 05-04-2011]
floorplate r5[accessedResource: ZFA:0000764][accessDate: 05-04-2011]
Floor plate that is part of the rhombomere 8.
Floor plate that is part of the rhombomere 8.[accessedResource: ZFA:0000765][accessDate: 05-04-2011]
floor plate r8[accessedResource: ZFA:0000765][accessDate: 05-04-2011]
floorplate r8[accessedResource: ZFA:0000765][accessDate: 05-04-2011]
A CNS interneuron located in the spinal cord.
A CNS interneuron located in the spinal cord.[accessedResource: ZFA:0000778][accessDate: 05-04-2011]
interneurons spinal cord[accessedResource: ZFA:0000778][accessDate: 05-04-2011]
obsolete_mesenchyme derived from head neural crest
Use http://purl.obolibrary.org/obo/UBERON_0007213 label: mesenchyme derived from head neural crest
Cranial neural crest that is part of the diencephalon.
Cranial neural crest that is part of the diencephalon.[accessedResource: ZFA:0000811][accessDate: 05-04-2011]
diencephalic neural crest[accessedResource: ZFA:0000811][accessDate: 05-04-2011]
Cranial neural crest that is part of the telencephalon.
Cranial neural crest that is part of the telencephalon.[accessedResource: ZFA:0000812][accessDate: 05-04-2011]
Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000813][accessDate: 05-04-2011]
neuromast infraorbital[accessedResource: ZFA:0000813][accessDate: 05-04-2011]
neuromasts infraorbital[accessedResource: ZFA:0000813][accessDate: 05-04-2011]
Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000814][accessDate: 05-04-2011]
neuromast opercular[accessedResource: ZFA:0000814][accessDate: 05-04-2011]
neuromasts opercular[accessedResource: ZFA:0000814][accessDate: 05-04-2011]
primary neurons hindbrain[accessedResource: ZFA:0000821][accessDate: 05-04-2011]
Hindbrain segment or neuromere.[accessedResource: ZFA:0000822][accessDate: 05-04-2011]
r2[accessedResource: ZFA:0000822][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005569 label: rhombomere 2
Hindbrain segment or neuromere.[accessedResource: ZFA:0000823][accessDate: 05-04-2011]
r5[accessedResource: ZFA:0000823][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005515 label: rhombomere 5
slow muscle cells somite 14[accessedResource: ZFA:0000841][accessDate: 05-04-2011]
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000851][accessDate: 05-04-2011]
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000857][accessDate: 05-04-2011]
Floor plate that is part of the rhombomere 1.
Floor plate that is part of the rhombomere 1.[accessedResource: ZFA:0000882][accessDate: 05-04-2011]
floor plate r1[accessedResource: ZFA:0000882][accessDate: 05-04-2011]
Floor plate that is part of the neural rod.
Floor plate that is part of the neural rod.[accessedResource: ZFA:0000887][accessDate: 05-04-2011]
floorplate neural rod[accessedResource: ZFA:0000887][accessDate: 05-04-2011]
Floor plate that is part of the rhombomere 3.
Floor plate that is part of the rhombomere 3.[accessedResource: ZFA:0000888][accessDate: 05-04-2011]
floor plate r3[accessedResource: ZFA:0000888][accessDate: 05-04-2011]
floorplate r3[accessedResource: ZFA:0000888][accessDate: 05-04-2011]
Floor plate that is part of the rhombomere 6.
Floor plate that is part of the rhombomere 6.[accessedResource: ZFA:0000889][accessDate: 05-04-2011]
floor plate r6[accessedResource: ZFA:0000889][accessDate: 05-04-2011]
floorplate r6[accessedResource: ZFA:0000889][accessDate: 05-04-2011]
Floor plate that is part of the rhombomere 4.
Floor plate that is part of the rhombomere 4.[accessedResource: ZFA:0000893][accessDate: 05-04-2011]
floor plate r4[accessedResource: ZFA:0000893][accessDate: 05-04-2011]
floorplate r4[accessedResource: ZFA:0000893][accessDate: 05-04-2011]
Floor plate that is part of the rhombomere 7.
Floor plate that is part of the rhombomere 7.[accessedResource: ZFA:0000904][accessDate: 05-04-2011]
floor plate r7[accessedResource: ZFA:0000904][accessDate: 05-04-2011]
floorplate r7[accessedResource: ZFA:0000904][accessDate: 05-04-2011]
obsolete_lateral mesenchyme derived from mesoderm
Use http://purl.obolibrary.org/obo/UBERON_0007683 label: lateral mesenchyme derived from mesoderm
Neural crest that is part of the midbrain.
Neural crest that is part of the midbrain.[accessedResource: ZFA:0000935][accessDate: 05-04-2011]
mesencephalic neural crest[accessedResource: ZFA:0000935][accessDate: 05-04-2011]
Neuromast that is part of the middle lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Neuromast that is part of the middle lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000939][accessDate: 05-04-2011]
neuromast middle[accessedResource: ZFA:0000939][accessDate: 05-04-2011]
neuromasts middle[accessedResource: ZFA:0000939][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_2000939 label: middle lateral line neuromast
Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000940][accessDate: 05-04-2011]
neuromast posterior[accessedResource: ZFA:0000940][accessDate: 05-04-2011]
neuromasts posterior[accessedResource: ZFA:0000940][accessDate: 05-04-2011]
Skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid.
Skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid.[accessedResource: ZFA:0000943][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0010710 label: pectoral fin skeleton
One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0000944][accessDate: 05-04-2011]
pll[accessedResource: ZFA:0000944][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0006334 label: posterior lateral line
Hindbrain segment or neuromere.[accessedResource: ZFA:0000948][accessDate: 05-04-2011]
r3[accessedResource: ZFA:0000948][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005507 label: rhombomere 3
Hindbrain segment or neuromere.[accessedResource: ZFA:0000949][accessDate: 05-04-2011]
r7[accessedResource: ZFA:0000949][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005523 labeel: rhombomere 7
slow muscle cells somite 1[accessedResource: ZFA:0000963][accessDate: 05-04-2011]
slow muscle cells somite 4[accessedResource: ZFA:0000972][accessDate: 05-04-2011]
slow muscle cells somite 7[accessedResource: ZFA:0000973][accessDate: 05-04-2011]
Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000975][accessDate: 05-04-2011]
mesenchyme pectoral fins[accessedResource: ZFA:0001000][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003934 label: mesenchyme pectoral fin
Use http://purl.obolibrary.org/obo/UBERON_0003083 label: trunk neural crest
obsolete_occipital lateral line neuromast
Neuromast that is part of the occipital lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Neuromast that is part of the occipital lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0001025][accessDate: 05-04-2011]
neuromast occipital[accessedResource: ZFA:0001025][accessDate: 05-04-2011]
neuromasts occipital[accessedResource: ZFA:0001025][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_2001025 label: occipital lateral line neuromast
obsolete_supraorbital lateral line neuromast
Neuromast that is part of the supraorbital lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)
Neuromast that is part of the supraorbital lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[accessedResource: ZFA:0001026][accessDate: 05-04-2011]
neuromast supraorbital[accessedResource: ZFA:0001026][accessDate: 05-04-2011]
neuromasts supraorbital[accessedResource: ZFA:0001026][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_2001026 label: supraorbital lateral line neuromast
Hindbrain segment or neuromere.[accessedResource: ZFA:0001031][accessDate: 05-04-2011]
r1[accessedResource: ZFA:0001031][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005499 label: rhombomere 1
Hindbrain segment or neuromere.[accessedResource: ZFA:0001032][accessDate: 05-04-2011]
r4[accessedResource: ZFA:0001032][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005511 label: rhombomere 4
slow muscle cells somite 10[accessedResource: ZFA:0001047][accessDate: 05-04-2011]
caudal division of the internal carotid artery
CaDI[accessedResource: ZFA:0001051][accessDate: 05-04-2011]
PICA[accessedResource: ZFA:0001053][accessDate: 05-04-2011]
Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta.
Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta.[accessedResource: ZFA:0001054][accessDate: 05-04-2011]
LDA[accessedResource: ZFA:0001054][accessDate: 05-04-2011]
cranial division of the internal carotid artery
CrDI[accessedResource: ZFA:0001059][accessDate: 05-04-2011]
rostral division of the internal carotid artery
rostral division of the internal carotid artery[accessedResource: ZFA:0001059][accessDate: 05-04-2011]
Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundary
Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundary[accessedResource: ZFA:0001062][accessDate: 05-04-2011]
PMsA[accessedResource: ZFA:0001062][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_2001062 label: primitive mesencephalic artery
A segment of the developing hindbrain.[accessedResource: ZFA:0001064][accessDate: 05-04-2011]
hindbrain segment[accessedResource: ZFA:0001064][accessDate: 05-04-2011]
rhombomeres[accessedResource: ZFA:0001064][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0001892 label: rhombomere
A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.
A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.[accessedResource: ZFA:0001066][accessDate: 05-04-2011]
dorsal arcocentrum[accessedResource: ZFA:0001066][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003861 label: neural arch
obsolete_presumptive pronephric mesoderm
nephron primordium[accessedResource: ZFA:0001070][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007297 label: presumptive pronephric mesoderm
This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area.
This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area.[accessedResource: ZFA:0001076][accessDate: 05-04-2011]
anterior intestine[accessedResource: ZFA:0001076][accessDate: 05-04-2011]
A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production.
A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production.[accessedResource: ZFA:0001077][accessDate: 05-04-2011]
thymic rudiment[accessedResource: ZFA:0001077][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005562 label: thymus primodium
Portion of tissue that is posterior to the developing notochord during tail bud extension.[accessedResource: ZFA:0001082][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007097 label: chordo neural hinge
Proliferative region that is part of the ventricular system.[accessedResource: ZFA:0001083][accessDate: 05-04-2011]
ventricular zones[accessedResource: ZFA:0001083][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003053 label: ventricular zone
myosepta[accessedResource: ZFA:0001089][accessDate: 05-04-2011]
Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits.
Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits.[accessedResource: ZFA:0001106][accessDate: 05-04-2011]
pharyngeal pouches[accessedResource: ZFA:0001106][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004117 label: pharyngeal pouch
granulosa cell layers[accessedResource: ZFA:0001112][accessDate: 05-04-2011]
thecal cell layers[accessedResource: ZFA:0001113][accessDate: 05-04-2011]
A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed.
A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed.[accessedResource: ZFA:0001118][accessDate: 05-04-2011]
UGP[accessedResource: ZFA:0001118][accessDate: 05-04-2011]
anal papilla[accessedResource: ZFA:0001118][accessDate: 05-04-2011]
anal papillae[accessedResource: ZFA:0001118][accessDate: 05-04-2011]
genital papilla[accessedResource: ZFA:0001118][accessDate: 05-04-2011]
urogenital papillae[accessedResource: ZFA:0001118][accessDate: 05-04-2011]
pharyngeal pouches 1[accessedResource: ZFA:0001128][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007122 label: pharyngeal pouch 1
pharyngeal pouches 2[accessedResource: ZFA:0001130][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007123 label: pharyngeal pouch 2
pharyngeal pouches 3[accessedResource: ZFA:0001131][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007124 label: pharyngeal pouch 3
pharyngeal pouches 6[accessedResource: ZFA:0001132][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007127 labe: pharyngeal pouch 6
pharyngeal pouches 5[accessedResource: ZFA:0001133][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007126 label: pharyngeal pouch 5
pharyngeal pouches 4[accessedResource: ZFA:0001134][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007125 label: pharyngeal pouch 4
Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row.
Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row.[accessedResource: ZFA:0001142][accessDate: 05-04-2011]
Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row.
Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row.[accessedResource: ZFA:0001143][accessDate: 05-04-2011]
Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row.
Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row.[accessedResource: ZFA:0001145][accessDate: 05-04-2011]
A migrating group of cells originating from the posterior lateral line placode. The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail.
A migrating group of cells originating from the posterior lateral line placode. The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail.[accessedResource: ZFA:0001157][accessDate: 05-04-2011]
posterior lateral line primordia[accessedResource: ZFA:0001157][accessDate: 05-04-2011]
ventral ectoderm[accessedResource: ZFA:0001178][accessDate: 05-04-2011]
pelvic fins[accessedResource: ZFA:0001184][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000152 label: pelvic fin
Neural crest that is part of the head.[accessedResource: ZFA:0001194][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003099 label: cranial neural crest
Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism.
Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism.[accessedResource: ZFA:0001200][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003068 label: axial mesoderm
Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4.
Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4.[accessedResource: ZFA:0001244][accessDate: 05-04-2011]
interbranchial IV[accessedResource: ZFA:0001244][accessDate: 05-04-2011]
Portion of tissue that is the lateral part of the floor plate.
Portion of tissue that is the lateral part of the floor plate.[accessedResource: ZFA:0001256][accessDate: 05-04-2011]
Portion of tissue that gives rise to the immature gonad.[accessedResource: ZFA:0001262][accessDate: 05-04-2011]
gonadal primordium[accessedResource: ZFA:0001262][accessDate: 05-04-2011]
undifferentiated gonad[accessedResource: ZFA:0001262][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005564 label: gonad primordium
Stage I follicles (less than 140 microns) are primary growth stage.
Stage I follicles (less than 140 microns) are primary growth stage.[accessedResource: ZFA:0001263][accessDate: 05-04-2011]
previtillogenic ovarian follicle[accessedResource: ZFA:0001263][accessDate: 05-04-2011]
Stage IV (690-730 microns) are oocyte maturation.
Stage IV (690-730 microns) are oocyte maturation.[accessedResource: ZFA:0001264][accessDate: 05-04-2011]
mature ovarian follicle[accessedResource: ZFA:0001264][accessDate: 05-04-2011]
Stage II follicles (140-340 microns) are cortical alveolus stage.
Stage II follicles (140-340 microns) are cortical alveolus stage.[accessedResource: ZFA:0001265][accessDate: 05-04-2011]
ovarian follicles stage II[accessedResource: ZFA:0001265][accessDate: 05-04-2011]
Stage III (340-690 microns) are vitellogenesis.
Stage III (340-690 microns) are vitellogenesis.[accessedResource: ZFA:0001266][accessDate: 05-04-2011]
ovarian follicles stage III[accessedResource: ZFA:0001266][accessDate: 05-04-2011]
head vasculature[accessedResource: ZFA:0001267][accessDate: 05-04-2011]
regenerating fins[accessedResource: ZFA:0001269][accessDate: 05-04-2011]
A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise.
A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise.[accessedResource: ZFA:0001270][accessDate: 05-04-2011]
regeneration blastema[accessedResource: ZFA:0001270][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005306 label: blastema
The dorsal portion of the first pharyngeal arch, comprising the upper jaw.
The dorsal portion of the first pharyngeal arch, comprising the upper jaw.[accessedResource: ZFA:0001272][accessDate: 05-04-2011]
dorsal mandibular arch[accessedResource: ZFA:0001272][accessDate: 05-04-2011]
dorsal visceral arch 1[accessedResource: ZFA:0001272][accessDate: 05-04-2011]
upper jaw[accessedResource: ZFA:0001272][accessDate: 05-04-2011]
upper pharyngeal jaw[accessedResource: ZFA:0001272][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0011085 label: palatoquadrate arch
The ventral portion of the first pharyngeal arch, comprising the lower jaw.
The ventral portion of the first pharyngeal arch, comprising the lower jaw.[accessedResource: ZFA:0001273][accessDate: 05-04-2011]
lower jaw[accessedResource: ZFA:0001273][accessDate: 05-04-2011]
mandible[accessedResource: ZFA:0001273][accessDate: 05-04-2011]
mandibular series[accessedResource: ZFA:0001273][accessDate: 05-04-2011]
Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL).
Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL).[accessedResource: ZFA:0001279][accessDate: 05-04-2011]
branchiostegal rays 1[accessedResource: ZFA:0001279][accessDate: 05-04-2011]
Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL).
Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL).[accessedResource: ZFA:0001280][accessDate: 05-04-2011]
branchiostegal rays 3[accessedResource: ZFA:0001280][accessDate: 05-04-2011]
Branchiostegal ray 2 is between rays 1 and 3 and ossifies second.
Branchiostegal ray 2 is between rays 1 and 3 and ossifies second.[accessedResource: ZFA:0001281][accessDate: 05-04-2011]
branchiostegal rays 2[accessedResource: ZFA:0001281][accessDate: 05-04-2011]
intersegmental vessels[accessedResource: ZFA:0001285][accessDate: 05-04-2011]
intersomitic vessels[accessedResource: ZFA:0001285][accessDate: 05-04-2011]
segmental vessel[accessedResource: ZFA:0001285][accessDate: 05-04-2011]
Renal duct that collects filtrate from the renal corpuscle and transports it to the collecting duct. Different parts of the renal tubule reabsorb specific components of the filtrate to leave only waste.
Renal duct that collects filtrate from the renal corpuscle and transports it to the collecting duct. Different parts of the renal tubule reabsorb specific components of the filtrate to leave only waste.[accessedResource: ZFA:0001287][accessDate: 05-04-2011]
mesonephric tubule[accessedResource: ZFA:0001287][accessDate: 05-04-2011]
renal tubules[accessedResource: ZFA:0001287][accessDate: 05-04-2011]
The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes, filters blood from the glomerular capillaries.
The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes, filters blood from the glomerular capillaries.[accessedResource: ZFA:0001288][accessDate: 05-04-2011]
renal glomeruli[accessedResource: ZFA:0001288][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0000074 label: renal glomerulus
CMZ[accessedResource: ZFA:0001289][accessDate: 05-04-2011]
Proliferative region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth.
Proliferative region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth.[accessedResource: ZFA:0001289][accessDate: 05-04-2011]
circumferential germinal zone[accessedResource: ZFA:0001289][accessDate: 05-04-2011]
peripheral growth zone[accessedResource: ZFA:0001289][accessDate: 05-04-2011]
retinal ciliary marginal zone[accessedResource: ZFA:0001289][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0003065 label: ciliary marginal zone
The sensory ganglion of the facial nerve.
The sensory ganglion of the facial nerve.[accessedResource: ZFA:0001291][accessDate: 05-04-2011]
gVII[accessedResource: ZFA:0001291][accessDate: 05-04-2011]
geniculate ganglion[accessedResource: ZFA:0001291][accessDate: 05-04-2011]
gX1[accessedResource: ZFA:0001302][accessDate: 05-04-2011]
nodose ganglion 1[accessedResource: ZFA:0001302][accessDate: 05-04-2011]
gX2[accessedResource: ZFA:0001303][accessDate: 05-04-2011]
nodose ganglion 2[accessedResource: ZFA:0001303][accessDate: 05-04-2011]
gX3[accessedResource: ZFA:0001304][accessDate: 05-04-2011]
nodose ganglion 3[accessedResource: ZFA:0001304][accessDate: 05-04-2011]
gX4[accessedResource: ZFA:0001305][accessDate: 05-04-2011]
nodose ganglion 4[accessedResource: ZFA:0001305][accessDate: 05-04-2011]
obsolete_dorsal anterior lateral line ganglion
anterodorsal lateral line ganglion[accessedResource: ZFA:0001312][accessDate: 05-04-2011]
Use: http://purl.obolibrary.org/obo/UBERON_2001312 label: dorsal anterior lateral line ganglion
anteroventral lateral line ganglion[accessedResource: ZFA:0001313][accessDate: 05-04-2011]
The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system.
The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system.[accessedResource: ZFA:0001314][accessDate: 05-04-2011]
posterior lateral line ganglia[accessedResource: ZFA:0001314][accessDate: 05-04-2011]
neurocranial trabeculae[accessedResource: ZFA:0001321][accessDate: 05-04-2011]
trabecula[accessedResource: ZFA:0001321][accessDate: 05-04-2011]
trabecular cartilage[accessedResource: ZFA:0001321][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0005945 label: neurocranial trabecula
The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest.[accessedResource: ZFA:0001356][accessDate: 05-04-2011]
nervus terminalis[accessedResource: ZFA:0001356][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002924 label: terminal nerve
Apical ectodermal ridge that is part of the pelvic fin bud.
Apical ectodermal ridge that is part of the pelvic fin bud.[accessedResource: ZFA:0001385][accessDate: 05-04-2011]
apical ectodermal ridge pelvic fin buds[accessedResource: ZFA:0001385][accessDate: 05-04-2011]
epidermal cap[accessedResource: ZFA:0001389][accessDate: 05-04-2011]
wound epidermis[accessedResource: ZFA:0001389][accessDate: 05-04-2011]
wound epithelium[accessedResource: ZFA:0001389][accessDate: 05-04-2011]
The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system.
The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system.[accessedResource: ZFA:0001391][accessDate: 05-04-2011]
anterior lateral line ganglia[accessedResource: ZFA:0001391][accessDate: 05-04-2011]
ventral visceral arch 2[accessedResource: ZFA:0001402][accessDate: 05-04-2011]
Bilaterally paired neurocranium cartilage which is initially plate-like and formed from the anterior fusion between the bilaterally paired trabecula cranii. It grows dorsally between the laminae orbitonasales to attain a complex shape.
Bilaterally paired neurocranium cartilage which is initially plate-like and formed from the anterior fusion between the bilaterally paired trabecula cranii. It grows dorsally between the laminae orbitonasales to attain a complex shape.[accessedResource: ZFA:0001405][accessDate: 05-04-2011]
ethmoid plate[accessedResource: ZFA:0001405][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0011242 label: ethmoid cartilage
Bilaterally paired large cartilage that articulates with the chondrocranium dorsally, the opercle posteriorly, and the palatoquadrate cartilage anteriorly.
Bilaterally paired large cartilage that articulates with the chondrocranium dorsally, the opercle posteriorly, and the palatoquadrate cartilage anteriorly.[accessedResource: ZFA:0001422][accessDate: 05-04-2011]
hyomandibular cartilage[accessedResource: ZFA:0001422][accessDate: 05-04-2011]
Floor plate that is part of the neural tube.
Floor plate that is part of the neural tube.[accessedResource: ZFA:0001434][accessDate: 05-04-2011]
pharyngeal arch cartilages[accessedResource: ZFA:0001460][accessDate: 05-04-2011]
splanchnocranium cartilage[accessedResource: ZFA:0001460][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0011004 label: pharyngeal arch cartilage
neurocranium cartilage[accessedResource: ZFA:0001461][accessDate: 05-04-2011]
The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.
The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.[accessedResource: ZFA:0001468][accessDate: 05-04-2011]
The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.
The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.[accessedResource: ZFA:0001471][accessDate: 05-04-2011]
Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres.
Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres.[accessedResource: ZFA:0001484][accessDate: 05-04-2011]
superficial blastomeres[accessedResource: ZFA:0001484][accessDate: 05-04-2011]
branchial arch[accessedResource: ZFA:0001613][accessDate: 05-04-2011]
branchial arches[accessedResource: ZFA:0001613][accessDate: 05-04-2011]
branchial bar[accessedResource: ZFA:0001613][accessDate: 05-04-2011]
branchial bars[accessedResource: ZFA:0001613][accessDate: 05-04-2011]
gill arch[accessedResource: ZFA:0001613][accessDate: 05-04-2011]
gill arches 1-5[accessedResource: ZFA:0001613][accessDate: 05-04-2011]
visceral arches 3-7[accessedResource: ZFA:0001613][accessDate: 05-04-2011]
Artery that is part of the pharyngeal arches.
Artery that is part of the pharyngeal arches.[accessedResource: ZFA:0005004][accessDate: 05-04-2011]
aortic arches[accessedResource: ZFA:0005004][accessDate: 05-04-2011]
branchial aortic arches [accessedResource: ZFA:0005004][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004363 label: aortic arch
MCeV[accessedResource: ZFA:0005010][accessDate: 05-04-2011]
The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC).
The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC).[accessedResource: ZFA:0005010][accessDate: 05-04-2011]
mid-cerebral vein[accessedResource: ZFA:0005010][accessDate: 05-04-2011]
middle cerebral vein[accessedResource: ZFA:0005010][accessDate: 05-04-2011]
PMBC[accessedResource: ZFA:0005017][accessDate: 05-04-2011]
The vessel between the anterior cerebral vein and the mid cerebral vein.
The vessel between the anterior cerebral vein and the mid cerebral vein.[accessedResource: ZFA:0005017][accessDate: 05-04-2011]
DLAV[accessedResource: ZFA:0005025][accessDate: 05-04-2011]
Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf. The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata. In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV.
Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf. The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata. In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV.[accessedResource: ZFA:0005025][accessDate: 05-04-2011]
DA-PCV joint [accessedResource: ZFA:0005028][accessDate: 05-04-2011]
DP joint[accessedResource: ZFA:0005028][accessDate: 05-04-2011]
Region where blood progenitor markers are expressed. Probable site of definitive hematopoiesis between 36hpf and 4dpf.
Region where blood progenitor markers are expressed. Probable site of definitive hematopoiesis between 36hpf and 4dpf.[accessedResource: ZFA:0005028][accessDate: 05-04-2011]
aorta gonad mesonephros region[accessedResource: ZFA:0005028][accessDate: 05-04-2011]
dorsal aorta - posterior cardinal vein joint
dorsal aorta - posterior cardinal vein joint[accessedResource: ZFA:0005028][accessDate: 05-04-2011]
Hematopoietic tissue derived from the cephalic mesoderm. Predominantly produces myeloid cells.
Hematopoietic tissue derived from the cephalic mesoderm. Predominantly produces myeloid cells.[accessedResource: ZFA:0005029][accessDate: 05-04-2011]
RBI[accessedResource: ZFA:0005029][accessDate: 05-04-2011]
PAV[accessedResource: ZFA:0005034][accessDate: 05-04-2011]
Vessels run longitudinally along the horizontal myoseptum. These vessels are not functional until after lumenization which occurs near 4 dpf.
Vessels run longitudinally along the horizontal myoseptum. These vessels are not functional until after lumenization which occurs near 4 dpf.[accessedResource: ZFA:0005034][accessDate: 05-04-2011]
ALM[accessedResource: ZFA:0005039][accessDate: 05-04-2011]
PLM[accessedResource: ZFA:0005040][accessDate: 05-04-2011]
obsolete_anterior lateral plate mesoderm
ALPM[accessedResource: ZFA:0005041][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0009881 label: anterior lateral plate mesoderm
obsolete_posterior lateral plate mesoderm
PLPM[accessedResource: ZFA:0005042][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0009910 label: posterior lateral plate mesoderm
The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences.
The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences.[accessedResource: ZFA:0005059][accessDate: 05-04-2011]
A ring of conduction tissue that forms in the atrioventricular canal.
A ring of conduction tissue that forms in the atrioventricular canal.[accessedResource: ZFA:0005073][accessDate: 05-04-2011]
AV ring[accessedResource: ZFA:0005073][accessDate: 05-04-2011]
Is a portion of tissue that will develop into vasculature.
Is a portion of tissue that will develop into vasculature.[accessedResource: ZFA:0005076][accessDate: 05-04-2011]
The primordial vasculature that will develop into blood vessels by the process of tubulogenesis. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels.
The primordial vasculature that will develop into blood vessels by the process of tubulogenesis. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels.[accessedResource: ZFA:0005077][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0006965 label: vascular cord
A migrating group of cells originating from an anterior lateral line placode. The primordium deposits neuromasts and interneuromasts between them during its migration.
A migrating group of cells originating from an anterior lateral line placode. The primordium deposits neuromasts and interneuromasts between them during its migration.[accessedResource: ZFA:0005117][accessDate: 05-04-2011]
anterior lateral line primordia[accessedResource: ZFA:0005117][accessDate: 05-04-2011]
RB neuron[accessedResource: ZFA:0009150][accessDate: 05-04-2011]
Rohon-Beard neurons[accessedResource: ZFA:0009150][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002107 label; liver
\Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney
An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance
An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance
An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology.
POOLCLONE (Shotgun of pooled clones (usually BACs and Fosmids))
An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments.
An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced
An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced
WGS (Random sequencing of the whole genome)
An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome.
An assay in which DNA is the input molecule derived from exons is sequenced.
WXS (Random sequencing of exonic regions selected from the genome)
An assay in which a DNA or RNA input molecule amplified by PCR is sequenced.
AMPLICON (Sequencing of overlapping or distinct PCR or RT-PCR products)
An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing
Methylation-Sensitive Restriction Enzyme sequencing
MRE-Seq (Methylation-Sensitive Restriction Enzyme Sequencing strategy)
An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology.
Methylated DNA Immunoprecipitation sequencing
MeDIP-Seq (Methylated DNA Immunoprecipitation Sequencing strategy)
An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing.
MBD-Seq (Direct sequencing of methylated fractions sequencing strategy)
An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA.
MNase-Seq (Direct sequencing following MNase digestion)
An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements.
DNase-Hypersensitivity (Sequencing of hypersensitive sites, or segments of open chromatin that are more readily cleaved by DNaseI)
An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status.
Bisulfite-Seq (Sequencing following treatment of DNA with bisulfite to convert cytosine residues to uracil depending on methylation status)
An assay in which RNA derived from an EST is sequenced
EST (Single pass sequencing of cDNA templates)
An assay in which RNA derived from a full length cDNA template is sequenced
FL-cDNA (Full-length sequencing of cDNA templates)
A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior.
A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior.[accessedResource: DOID:0060041][accessDate: 05-04-2011]
Autism Spectrum Disorders[accessedResource: MSH:D002659][accessDate: 05-04-2011]
CHILD DEVELOPMENT DIS PERVASIVE[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Child Development Disorders, Pervasive[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Development Disorder, Pervasive[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Development Disorders, Pervasive[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Disorder, Autism Spectrum[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Disorder, Pervasive Development[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Disorders, Autism Spectrum[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Disorders, Pervasive Development[accessedResource: MSH:D002659][accessDate: 05-04-2011]
PERVASIVE CHILD DEVELOPMENT DIS[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Pervasive Child Development Disorders[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Pervasive Development Disorder[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Pervasive Development Disorders[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.
Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Spectrum Disorder, Autism[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Spectrum Disorders, Autism[accessedResource: MSH:D002659][accessDate: 05-04-2011]
Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)
Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)[accessedResource: MSH:D002659][accessDate: 05-04-2011]
autism spectrum disease[accessedResource: DOID:0060041][accessDate: 05-04-2011]
An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.[accessedResource: DOID:0050432][accessDate: 05-04-2011]
X-linked Asperger syndrome[accessedResource: DOID:0050432][accessDate: 05-04-2011]
A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)
A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)[accessedResource: MSH:D001321][accessDate: 05-04-2011]
An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.
An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.[accessedResource: DOID:12849][accessDate: 05-04-2011]
Autism, Early Infantile[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Autism, Infantile[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Autisms[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Autistic disorder of childhood onset (disorder)
Autistic disorder of childhood onset (disorder)[accessedResource: DOID:12849][accessDate: 05-04-2011]
Autistic disorder[accessedResource: DOID:12849][accessDate: 05-04-2011]
Disorder, Autistic[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Disorders, Autistic[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Early Infantile Autism[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Infantile Autism, Early[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Infantile Autism[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Infantile autism (disorder)[accessedResource: DOID:12849][accessDate: 05-04-2011]
Infantile psychosis (disorder)[accessedResource: DOID:12849][accessDate: 05-04-2011]
Kanner Syndrome[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Kanner's syndrome[accessedResource: DOID:12849][accessDate: 05-04-2011]
Kanners Syndrome[accessedResource: MSH:D001321][accessDate: 05-04-2011]
Syndrome, Kanner's[accessedResource: MSH:D001321][accessDate: 05-04-2011]
childhood autism[accessedResource: DOID:12849][accessDate: 05-04-2011]
pervasive developmental disorder - not otherwise specified
An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.[accessedResource: DOID:0060042][accessDate: 05-04-2011]
atypical autism[accessedResource: DOID:0060042][accessDate: 05-04-2011]
CNS CYSTS[accessedResource: MSH:D020863][accessDate: 05-04-2011]
CNS Cyst[accessedResource: NCIt:C4657][accessDate: 05-04-2011]
CYSTS CNS[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Central Nervous System Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Cleft Cysts, Rathke's[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.
Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Cyst of CNS[accessedResource: NCIt:C4657][accessDate: 05-04-2011]
Cyst of Central Nervous System[accessedResource: NCIt:C4657][accessDate: 05-04-2011]
Cyst of the CNS[accessedResource: NCIt:C4657][accessDate: 05-04-2011]
Cyst of the Central Nervous System[accessedResource: NCIt:C4657][accessDate: 05-04-2011]
Cyst, Suprasellar[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Cysts, Central Nervous System[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Cysts, Rathke Cleft[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Cysts, Suprasellar[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Rathke Cleft Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Rathke's Cleft Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Rathkes Cleft Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Suprasellar Cyst[accessedResource: MSH:D020863][accessDate: 05-04-2011]
Suprasellar Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011]
An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.
An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.[accessedResource: MSH:D003866][accessDate: 05-04-2011]
DEPRESSIVE DIS MAJOR[accessedResource: MSH:D003865][accessDate: 05-04-2011]
DEPRESSIVE DIS[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depression, Emotional[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Depression, Endogenous[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depression, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Depression, Neurotic[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depression, Unipolar[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depression[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Depressions, Emotional[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Depressions, Endogenous[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressions, Neurotic[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressions, Unipolar[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressions[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Depressive Disorder, Major[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Depressive Disorder[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressive Disorders, Major[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Depressive Disorders[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressive Neuroses[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressive Neurosis[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressive Symptom[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Depressive Symptoms[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Depressive Syndrome[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressive Syndromes[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Depressive states usually of moderate intensity in contrast with major depression present in neurotic and psychotic disorders.
Depressive states usually of moderate intensity in contrast with major depression present in neurotic and psychotic disorders.[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Disorder, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Disorder, Major Depressive[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Disorders, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Disorders, Major Depressive[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Emotional Depression[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Emotional Depressions[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Endogenous Depression[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Endogenous Depressions[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Form of depression in those MIDDLE AGE with feelings of ANXIETY.
Form of depression in those MIDDLE AGE with feelings of ANXIETY.[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Involutional Depression[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Involutional Melancholia[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Involutional Psychoses[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Involutional Psychosis[accessedResource: MSH:D003865][accessDate: 05-04-2011]
MAJOR DEPRESSIVE DIS[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Major Depressive Disorders[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation.
Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation.[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Melancholia, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Melancholia[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Melancholias[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Neuroses, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Neurosis, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Neurotic Depression[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Neurotic Depressions[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Paraphrenia, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Psychoses, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Psychosis, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Severe mental disorder with onset in MIDDLE AGE, marked by withdrawl, abnormal affect, disturbed intellectual processes, and there may be regression.
Severe mental disorder with onset in MIDDLE AGE, marked by withdrawl, abnormal affect, disturbed intellectual processes, and there may be regression.[accessedResource: MSH:D003865][accessDate: 05-04-2011]
Symptom, Depressive[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Symptoms, Depressive[accessedResource: MSH:D003863][accessDate: 05-04-2011]
Syndrome, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Syndromes, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011]
Unipolar Depressions[accessedResource: MSH:D003866][accessDate: 05-04-2011]
major depressive disorder[accessedResource: DOID:6340][accessDate: 05-04-2011]
A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)
A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)[accessedResource: MSH:D014808][accessDate: 05-04-2011]
Avitaminosis D, NOS[accessedResource: SNOMEDCT:34713006][accessDate: 05-04-2011]
Avitaminosis D[accessedResource: SNOMEDCT:34713006][accessDate: 05-04-2011]
DEFIC VITAMIN D[accessedResource: MSH:D014808][accessDate: 05-04-2011]
Deficiencies, Vitamin D[accessedResource: MSH:D014808][accessDate: 05-04-2011]
Deficiency, Vitamin D[accessedResource: MSH:D014808][accessDate: 05-04-2011]
VITAMIN D DEFIC[accessedResource: MSH:D014808][accessDate: 05-04-2011]
Vitamin D Deficiencies[accessedResource: MSH:D014808][accessDate: 05-04-2011]
Vitamin D deficiency (disorder)[accessedResource: SNOMEDCT:34713006][accessDate: 05-04-2011]
Vitamin D deficiency, NOS[accessedResource: SNOMEDCT:34713006][accessDate: 05-04-2011]
A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.
A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.[accessedResource: NCIt:C2938][accessDate: 05-04-2011]
A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others.
A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others.[accessedResource: MSH:D002561][accessDate: 05-04-2011]
BRAIN VASCULAR DIS[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Brain Vascular Disorder[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Brain Vascular Disorders[accessedResource: MSH:D002561][accessDate: 05-04-2011]
CEREBROVASCULAR DIS[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Cerebrovascular Disease[accessedResource: NCIt:C2938][accessDate: 05-04-2011]
Cerebrovascular Disorders[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Cerebrovascular Insufficiencies[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Cerebrovascular Insufficiency[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Cerebrovascular Occlusion[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Cerebrovascular Occlusions[accessedResource: MSH:D002561][accessDate: 05-04-2011]
INTRACRANIAL VASCULAR DIS[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Insufficiencies, Cerebrovascular[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Insufficiency, Cerebrovascular[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Intracranial Vascular Disease[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Intracranial Vascular Diseases[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Intracranial Vascular Disorder[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Intracranial Vascular Disorders[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Occlusion, Cerebrovascular[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Occlusions, Cerebrovascular[accessedResource: MSH:D002561][accessDate: 05-04-2011]
VASCULAR DIS INTRACRANIAL[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Vascular Disease, Intracranial[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Vascular Diseases, Intracranial[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Vascular Disorder, Brain[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Vascular Disorder, Intracranial[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Vascular Disorders, Brain[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Vascular Disorders, Intracranial[accessedResource: MSH:D002561][accessDate: 05-04-2011]
Anterior Circulation Transient Ischemic Attack
Anterior Circulation Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Attack, Transient Ischemic[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Attacks, Transient Ischemic[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Brain Stem Ischemia, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Brain Stem Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Brain TIA[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Brainstem Ischemia, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Brainstem Ischemias, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Brainstem Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)
Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Carotid Circulation Transient Ischemic Attack
Carotid Circulation Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Cerebral Ischemia, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Cerebral Ischemias, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Crescendo Transient Ischemic Attacks[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Ischemia, Transient Brainstem[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Ischemia, Transient Cerebral[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Ischemias, Transient Brainstem[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Ischemias, Transient Cerebral[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Ischemic Attack, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Ischemic Attacks, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Posterior Circulation Transient Ischemic Attack
Posterior Circulation Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011]
TIA (Transient Ischemic Attack)[accessedResource: MSH:D002546][accessDate: 05-04-2011]
TIA - Transient ischaemic attack[accessedResource: DOID:224][accessDate: 05-04-2011]
TIA, Brain[accessedResource: MSH:D002546][accessDate: 05-04-2011]
TIA[accessedResource: DOID:224][accessDate: 05-04-2011]
TIAs (Transient Ischemic Attack)[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Brainstem Ischemia[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Cerebral Ischemia[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Cerebral Ischemias[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Ischemic Attack, Anterior Circulation
Transient Ischemic Attack, Anterior Circulation[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Ischemic Attack, Brain Stem[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Ischemic Attack, Brainstem[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Ischemic Attack, Carotid Circulation
Transient Ischemic Attack, Carotid Circulation[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Ischemic Attack, Posterior Circulation
Transient Ischemic Attack, Posterior Circulation[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Ischemic Attack, Vertebrobasilar Circulation
Transient Ischemic Attack, Vertebrobasilar Circulation[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Ischemic Attacks, Crescendo[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient Ischemic Attacks[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Transient cerebral ischaemia NOS[accessedResource: DOID:224][accessDate: 05-04-2011]
Transient cerebral ischaemia[accessedResource: DOID:224][accessDate: 05-04-2011]
Transient cerebral ischemia (disorder) [Ambiguous]
Transient cerebral ischemia (disorder) [Ambiguous][accessedResource: DOID:224][accessDate: 05-04-2011]
Transient ischemic attacks (disorder)[accessedResource: DOID:224][accessDate: 05-04-2011]
Vertebrobasilar Circulation Transient Ischemic Attack
Vertebrobasilar Circulation Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011]
Clinical Finding[accessedResource: NCIt:C3367][accessDate: 05-04-2011]
Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient.
Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient.[accessedResource: MSH:D012816][accessDate: 05-04-2011]
DESC[accessedResource: NCIt:C3367][accessDate: 05-04-2011]
Diagnostic Findings[accessedResource: NCIt:C3367][accessDate: 05-04-2011]
Finding[accessedResource: NCIt:C3367][accessDate: 05-04-2011]
Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom).
Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom).[accessedResource: NCIt:C3367][accessDate: 05-04-2011]
SIGNS SYMPTOMS[accessedResource: MSH:D012816][accessDate: 05-04-2011]
Signs and Symptoms[accessedResource: NCIt:C3367][accessDate: 05-04-2011]
Symptoms and Signs[accessedResource: MSH:D012816][accessDate: 05-04-2011]
Abdominal Pains[accessedResource: MSH:D015746][accessDate: 05-04-2011]
Pain, Abdominal[accessedResource: MSH:D015746][accessDate: 05-04-2011]
Painful sensation in the abdominal region.
Painful sensation in the abdominal region.[accessedResource: NCIt:C26682][accessDate: 05-04-2011]
Pains, Abdominal[accessedResource: MSH:D015746][accessDate: 05-04-2011]
Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases.
Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases.[accessedResource: MSH:D015746][accessDate: 05-04-2011]
A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003
A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]
BOWEL DIS INFLAMM[accessedResource: MSH:D015212][accessDate: 05-04-2011]
Bowel Diseases, Inflammatory[accessedResource: MSH:D015212][accessDate: 05-04-2011]
Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.
Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.[accessedResource: MSH:D015212][accessDate: 05-04-2011]
IBD[accessedResource: NCIt:C3138][accessDate: 05-04-2011]
INFLAMM BOWEL DIS[accessedResource: MSH:D015212][accessDate: 05-04-2011]
Inflammatory Bowel Diseases[accessedResource: MSH:D015212][accessDate: 05-04-2011]
Cigarette Smoking[accessedResource: MSH:D012907][accessDate: 05-04-2011]
Dependence, Nicotine[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Dependence, Tobacco[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Disorder, Nicotine Use[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Disorder, Tobacco Use[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Disorder, Tobacco-Use[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Inhaling and exhaling the smoke of tobacco or something similar to tobacco.
Inhaling and exhaling the smoke of tobacco or something similar to tobacco.[accessedResource: MSH:D012907][accessDate: 05-04-2011]
NICOTINE USE DIS[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Nicotine Addiction[accessedResource: NCIt:C54203][accessDate: 05-04-2011]
Nicotine Use Disorder[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Nicotine Use Disorders[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Smoking, Cigarette[accessedResource: MSH:D012907][accessDate: 05-04-2011]
Smoking, Tobacco[accessedResource: MSH:D012907][accessDate: 05-04-2011]
Smoking[accessedResource: MSH:D012907][accessDate: 05-04-2011]
Smokings, Tobacco[accessedResource: MSH:D012907][accessDate: 05-04-2011]
TOBACCO USE DIS[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Tobacco Dependence[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Tobacco Dependences[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Tobacco Smoking[accessedResource: MSH:D012907][accessDate: 05-04-2011]
Tobacco Smokings[accessedResource: MSH:D012907][accessDate: 05-04-2011]
Tobacco Use Disorder[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Tobacco Use Disorders[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included.
Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included.[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Tobacco-Use Disorder[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Use Disorder, Nicotine[accessedResource: MSH:D014029][accessDate: 05-04-2011]
Cancer of Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Cancer of the Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Cancer, Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Cancer, Endocrine[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Cancers, Endocrine[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Carcinoma of Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Carcinoma, Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011]
ENDOCRINE GLAND NEOPL[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Endocrine Cancer[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Endocrine Cancers[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Endocrine Gland Cancer[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Endocrine Gland Carcinoma[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Endocrine Gland Neoplasm[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Endocrine Gland Neoplasms[accessedResource: MSH:D004701][accessDate: 05-04-2011]
NEOPL ENDOCRINE GLAND[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Neoplasm, Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Neoplasms, Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Tumors or cancer of the ENDOCRINE GLANDS.
Tumors or cancer of the ENDOCRINE GLANDS.[accessedResource: MSH:D004701][accessDate: 05-04-2011]
Diabetic Retinopathies[accessedResource: MSH:D003930][accessDate: 05-04-2011]
Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION.
Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION.[accessedResource: MSH:D003930][accessDate: 05-04-2011]
Retinopathies, Diabetic[accessedResource: MSH:D003930][accessDate: 05-04-2011]
Retinopathy, Diabetic[accessedResource: MSH:D003930][accessDate: 05-04-2011]
Abdominal Adipose Tissue[accessedResource: MSH:D050153][accessDate: 05-04-2011]
Abdominal Fats[accessedResource: MSH:D050153][accessDate: 05-04-2011]
Abdominal Visceral Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Abdominal Visceral Fats[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Adipose Tissue, Abdominal[accessedResource: MSH:D050153][accessDate: 05-04-2011]
Adipose Tissue, Intra-Abdominal[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Adipose Tissue, Retroperitoneal[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Adipose Tissue, Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fat, Abdominal Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fat, Abdominal[accessedResource: MSH:D050153][accessDate: 05-04-2011]
Fat, Intra Abdominal[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fat, Intra-Abdominal[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fat, Retroperitoneal[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fat, Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fats, Abdominal Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fats, Abdominal[accessedResource: MSH:D050153][accessDate: 05-04-2011]
Fats, Intra-Abdominal[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fats, Retroperitoneal[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fats, Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Fatty tissue in the region of the ABDOMEN. It includes the ABDOMINAL SUBCUTANEOUS FAT and the INTRA-ABDOMINAL FAT.
Fatty tissue in the region of the ABDOMEN. It includes the ABDOMINAL SUBCUTANEOUS FAT and the INTRA-ABDOMINAL FAT.[accessedResource: MSH:D050153][accessDate: 05-04-2011]
Fatty tissue inside the ABDOMINAL CAVITY, including visceral fat and retroperitoneal fat. It is the most metabolically active fat in the body and easily accessible for LIPOLYSIS. Increased visceral fat is associated with metabolic complications of OBESITY.
Fatty tissue inside the ABDOMINAL CAVITY, including visceral fat and retroperitoneal fat. It is the most metabolically active fat in the body and easily accessible for LIPOLYSIS. Increased visceral fat is associated with metabolic complications of OBESITY.[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Intra Abdominal Adipose Tissue[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Intra Abdominal Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Intra-Abdominal Adipose Tissue[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Intra-Abdominal Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Intra-Abdominal Fats[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Retroperitoneal Adipose Tissue[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Retroperitoneal Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Retroperitoneal Fats[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0007808 Label: adipose tissue of abdominal region
Visceral Adipose Tissue[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Visceral Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011]
Visceral Fats[accessedResource: MSH:D050152][accessDate: 05-04-2011]
An endocrine system component is a defined classt to caputre the partonomy of the endocrine system.
Abnormally high level of lipids in blood.
Abnormally high level of lipids in blood.[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Conditions with excess LIPIDS in the blood.
Conditions with excess LIPIDS in the blood.[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Hyperlipemia[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Hyperlipemias[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Hyperlipidemias[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Lipemia[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Lipemias[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Lipidemia[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Lipidemias[accessedResource: MSH:D006949][accessDate: 05-04-2011]
Autosomal Dominant HIES[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Autosomal Dominant HIESs[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Autosomal Recessive HIES[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Autosomal Recessive HIESs[accessedResource: MSH:D007589][accessDate: 05-04-2011]
HIES, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011]
HIES, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011]
HIESs, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011]
HIESs, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper IgE Syndrome, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper IgE Syndrome, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper IgE Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper Immunoglobulin E Syndrome, Autosomal Dominant
Hyper Immunoglobulin E Syndrome, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper Immunoglobulin E Syndrome, Autosomal Recessive
Hyper Immunoglobulin E Syndrome, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper-IgE Syndrome, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper-IgE Syndrome, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper-IgE Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper-IgE Syndromes[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyperimmunoglobulin E Recurrent Infection Syndrome
Hyperimmunoglobulin E Recurrent Infection Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyperimmunoglobulin E, Recurrent Infection Syndrome
Hyperimmunoglobulin E, Recurrent Infection Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyperimmunoglobulin E-Recurrent Infection Syndrome
Hyperimmunoglobulin E-Recurrent Infection Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyperimmunoglobulinemia E Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Hyperimmunoglobulinemia E Syndromes[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Job Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Job's syndrome (disorder)[accessedResource: DOID:3261][accessDate: 05-04-2011]
Jobs Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Syndrome, Hyper-IgE[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Syndrome, Hyperimmunoglobulinemia E[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Syndrome, Job's[accessedResource: MSH:D007589][accessDate: 05-04-2011]
Syndromes, Hyperimmunoglobulinemia E[accessedResource: MSH:D007589][accessDate: 05-04-2011]
hyperimmunoglobulin E syndrome (disorder)
hyperimmunoglobulin E syndrome (disorder)[accessedResource: DOID:3261][accessDate: 05-04-2011]
hyperimmunoglobulin E syndrome[accessedResource: DOID:3261][accessDate: 05-04-2011]
Aortocoronary Bypass[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Aortocoronary Bypasses[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Artery Bypass, Coronary[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Artery Bypasses, Coronary[accessedResource: MSH:D001026][accessDate: 05-04-2011]
BYPASS SURG CORONARY ARTERY[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Bypass Surgery, Coronary Artery[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Bypass, Aortocoronary[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Bypass, Coronary Artery[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Bypasses, Aortocoronary[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Bypasses, Coronary Artery[accessedResource: MSH:D001026][accessDate: 05-04-2011]
CABG[accessedResource: MSH:D001026][accessDate: 05-04-2011]
CORONARY ARTERY BYPASS SURG[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Coronary Artery Bypass Grafting[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Coronary Artery Bypass Surgery[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Coronary Artery Bypasses[accessedResource: MSH:D001026][accessDate: 05-04-2011]
Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion.
Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion.[accessedResource: MSH:D001026][accessDate: 05-04-2011]
CARDIAC DIS[accessedResource: MSH:D006331][accessDate: 05-04-2011]
Cardiac Disease[accessedResource: MSH:D006331][accessDate: 05-04-2011]
Cardiac Diseases[accessedResource: MSH:D006331][accessDate: 05-04-2011]
Disease, Cardiac[accessedResource: MSH:D006331][accessDate: 05-04-2011]
Disease, Heart[accessedResource: MSH:D006331][accessDate: 05-04-2011]
Diseases, Cardiac[accessedResource: MSH:D006331][accessDate: 05-04-2011]
Diseases, Heart[accessedResource: MSH:D006331][accessDate: 05-04-2011]
HEART DIS[accessedResource: MSH:D006331][accessDate: 05-04-2011]
Heart Diseases[accessedResource: MSH:D006331][accessDate: 05-04-2011]
Pathological conditions involving the HEART including its structural and functional abnormalities.
Pathological conditions involving the HEART including its structural and functional abnormalities.[accessedResource: MSH:D006331][accessDate: 05-04-2011]
A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor.
A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor.[accessedResource: MSH:D015535][accessDate: 05-04-2011]
Arthritic Psoriasis[accessedResource: MSH:D015535][accessDate: 05-04-2011]
Arthritis, Psoriatic[accessedResource: MSH:D015535][accessDate: 05-04-2011]
Psoriasis Arthropathica[accessedResource: MSH:D015535][accessDate: 05-04-2011]
Psoriasis, Arthritic[accessedResource: MSH:D015535][accessDate: 05-04-2011]
An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.
An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.[accessedResource: NCIt:C27191][accessDate: 05-04-2011]
Autoimmune Thyroiditides[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Autoimmune Thyroiditis[accessedResource: NCIt:C27191][accessDate: 05-04-2011]
Hashimoto Thyroiditis[accessedResource: NCIt:C27191][accessDate: 05-04-2011]
Hashimoto disease[accessedResource: NCIt:C27191][accessDate: 05-04-2011]
Hashimoto's Thyroiditis[accessedResource: NCIt:C27191][accessDate: 05-04-2011]
Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.
Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Lymphocytic Thyroiditides[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Lymphocytic Thyroiditis[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Lymphomatous Thyroiditides[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Lymphomatous Thyroiditis[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Thyroiditides, Autoimmune[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Thyroiditides, Lymphocytic[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Thyroiditides, Lymphomatous[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Thyroiditis, Autoimmune[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Thyroiditis, Lymphocytic[accessedResource: MSH:D013967][accessDate: 05-04-2011]
Thyroiditis, Lymphomatous[accessedResource: MSH:D013967][accessDate: 05-04-2011]
A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.[accessedResource: DOID:13241][accessDate: 05-04-2011]
Adamantiades-Behcet disease[accessedResource: DOID:13241][accessDate: 05-04-2011]
BEHCET DIS[accessedResource: MSH:D001528][accessDate: 05-04-2011]
Behcet Disease[accessedResource: MSH:D001528][accessDate: 05-04-2011]
Behcet syndrome[accessedResource: DOID:13241][accessDate: 05-04-2011]
Behcet's disease[accessedResource: DOID:13241][accessDate: 05-04-2011]
Behcets Syndrome[accessedResource: MSH:D001528][accessDate: 05-04-2011]
Behet's syndrome (disorder)[accessedResource: DOID:13241][accessDate: 05-04-2011]
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.[accessedResource: MSH:D001528][accessDate: 05-04-2011]
Triple Symptom Complex[accessedResource: MSH:D001528][accessDate: 05-04-2011]
Triple-Symptom Complex[accessedResource: MSH:D001528][accessDate: 05-04-2011]
ARTERIAL DIS CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011]
ARTERIAL DIS COMMON CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011]
ARTERIAL DIS EXTERNAL CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011]
ARTERIAL DIS INTERNAL CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011]
ATHEROSCLEROTIC DIS CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Arterial Disease, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Arterial Diseases, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Arterial Diseases, Common Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Arterial Diseases, External Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Arterial Diseases, Internal Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Artery Disease, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Artery Diseases, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Artery Disorder, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Artery Disorders, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Atherosclerotic Disease, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Atherosclerotic Diseases, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011]
CAROTID ARTERY DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011]
CAROTID ATHEROSCLEROTIC DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011]
COMMON CAROTID ARTERY DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Arterial Disease[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Arterial Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Artery Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Artery Disorder[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Artery Disorders[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Atheroscleroses[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Atherosclerosis[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Atherosclerotic Disease[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Carotid Atherosclerotic Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Common Carotid Artery Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Disorders, Carotid Artery[accessedResource: MSH:D002340][accessDate: 05-04-2011]
EXTERNAL CAROTID ARTERY DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011]
External Carotid Artery Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011]
INTERNAL CAROTID ARTERY DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Internal Carotid Artery Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011]
Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology.
Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology.[accessedResource: MSH:D002340][accessDate: 05-04-2011]
disorder of carotid artery (disorder)[accessedResource: DOID:3407][accessDate: 05-04-2011]
ANTERIOR HORN CELL DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Anterior Horn Cell Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)[accessedResource: MSH:D016472][accessDate: 05-04-2011]
FAMILIAL MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Familial Motor Neuron Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011]
LOWER MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Lateral Scleroses, Primary[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Lateral Scleroses[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Lateral Sclerosis, Primary[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Lateral Sclerosis[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Lower Motor Neuron Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011]
MOTOR NEURON DIS FAMILIAL[accessedResource: MSH:D016472][accessDate: 05-04-2011]
MOTOR NEURON DIS LOWER[accessedResource: MSH:D016472][accessDate: 05-04-2011]
MOTOR NEURON DIS SECOND[accessedResource: MSH:D016472][accessDate: 05-04-2011]
MOTOR NEURON DIS UPPER[accessedResource: MSH:D016472][accessDate: 05-04-2011]
MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011]
MOTOR SYSTEM DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Motor Neuron Disease, Familial[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Motor Neuron Disease, Lower[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Motor Neuron Disease, Secondary[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Motor Neuron Disease, Upper[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Motor Neuron Diseases[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Motor System Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Motor System Diseases[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Neuron Disease, Motor[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Neuron Diseases, Motor[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Primary Lateral Scleroses[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Primary Lateral Sclerosis[accessedResource: MSH:D016472][accessDate: 05-04-2011]
SECOND MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Scleroses, Lateral[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Scleroses, Primary Lateral[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Sclerosis, Lateral[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Sclerosis, Primary Lateral[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Secondary Motor Neuron Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011]
UPPER MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011]
Upper Motor Neuron Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011]
A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)
A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Bulbar Palsies, Progressive[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Bulbar Palsies[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Bulbar Palsy, Progressive[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Bulbar Paralyses[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Bulbar Paralysis[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Bulbar palsy[accessedResource: DOID:681][accessDate: 05-04-2011]
Childhood Progressive Bulbar Palsy[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Fazio Londe Syndrome[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Fazio-Londe Syndrome[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Palsies, Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Palsies, Progressive Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Palsy, Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Palsy, Progressive Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Paralysis, Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Progressive Bulbar Palsies[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Progressive Bulbar Palsy of Childhood[accessedResource: MSH:D010244][accessDate: 05-04-2011]
Syndrome, Fazio-Londe[accessedResource: MSH:D010244][accessDate: 05-04-2011]
progressive bulbar palsy (disorder)[accessedResource: DOID:681][accessDate: 05-04-2011]
Coloration of the skin.[accessedResource: MSH:D012880][accessDate: 05-04-2011]
Pigmentation, Skin[accessedResource: MSH:D012880][accessDate: 05-04-2011]
Pigmentations, Skin[accessedResource: MSH:D012880][accessDate: 05-04-2011]
Skin Pigmentations[accessedResource: MSH:D012880][accessDate: 05-04-2011]
Allergic Reaction[accessedResource: MSH:D006967][accessDate: 05-04-2011]
Allergic Reactions[accessedResource: MSH:D006967][accessDate: 05-04-2011]
Allergies[accessedResource: MSH:D006967][accessDate: 05-04-2011]
Allergy is any exaggerated immune response to a foreign antigen regardless of mechanism. Thus it includes atopy. Source: Merck Manual
Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen.
Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen.[accessedResource: MSH:D006967][accessDate: 05-04-2011]
An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.[accessedResource: DOID:1205][accessDate: 05-04-2011]
Hypersensitivities[accessedResource: MSH:D006967][accessDate: 05-04-2011]
Reaction, Allergic[accessedResource: MSH:D006967][accessDate: 05-04-2011]
Reactions, Allergic[accessedResource: MSH:D006967][accessDate: 05-04-2011]
hypersensitivity reaction type I disease
hypersensitivity reaction type I disease[accessedResource: DOID:1205][accessDate: 05-04-2011]
hypersensitivity[accessedResource: DOID:1205][accessDate: 05-04-2011]
A gene expression protocol is a protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing.
A growth protocol is a protocol which provides instructions on the growth of a biological sample. E.g. the growth of a specific cell line or Drosophila culture
A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix
A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)
A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)[accessedResource: NCIt:C2872][accessDate: 05-04-2011]
Aregenerative Anemia[accessedResource: NCIt:C2872][accessDate: 05-04-2011]
RA[accessedResource: NCIt:C2872][accessDate: 05-04-2011]
A labelling protocol is a set of instructions or plan which is realised
A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario.
A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: RAEB-1and RAEB-2. Cases with significant bone marrow reticulin fibrosis are called RAEB with fibrosis.
A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: RAEB-1and RAEB-2. Cases with significant bone marrow reticulin fibrosis are called RAEB with fibrosis.[accessedResource: NCIt:C7506][accessDate: 05-04-2011]
RAEB[accessedResource: NCIt:C7506][accessDate: 05-04-2011]
Refractory Anemia with an Excess of Blasts
Refractory Anemia with an Excess of Blasts[accessedResource: NCIt:C7506][accessDate: 05-04-2011]
Refractory anemia with excess blasts I and II.
refractory anemia with ringed sideroblasts
A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. It occurs primarily in older individuals. The median survival exceeds 5 years. (WHO, 2001)
A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. It occurs primarily in older individuals. The median survival exceeds 5 years. (WHO, 2001)[accessedResource: NCIt:C4036][accessDate: 05-04-2011]
Pure Sideroblastic Anemia[accessedResource: NCIt:C4036][accessDate: 05-04-2011]
RARS[accessedResource: NCIt:C4036][accessDate: 05-04-2011]
A protocol description in which input nucleic acid material is labeled.
array scanning and feature extraction protocol
A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array.
nucleic acid hybridization to array protocol
A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array.
normalization data transformation protocol
A protocol describing a data transformation in which data transformation has the objective normalization.
Cancer of Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Cancer of the Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Cancer, Laryngeal[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Cancer, Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.
Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Cancers, Laryngeal[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Cancers, Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011]
LARYNGEAL NEOPL[accessedResource: MSH:D007822][accessDate: 05-04-2011]
LARYNX NEOPL[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Laryngeal Cancer[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Laryngeal Cancers[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Laryngeal Neoplasms[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Larynx Cancer[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Larynx Cancers[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Larynx Neoplasm[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Larynx Neoplasms[accessedResource: MSH:D007822][accessDate: 05-04-2011]
NEOPL LARYNGEAL[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Neoplasm, Laryngeal[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Neoplasm, Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Neoplasms, Laryngeal[accessedResource: MSH:D007822][accessDate: 05-04-2011]
Neoplasms, Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011]
DIS PULM[accessedResource: MSH:D008171][accessDate: 05-04-2011]
Disease, Lung[accessedResource: MSH:D008171][accessDate: 05-04-2011]
Disease, Pulmonary[accessedResource: MSH:D008171][accessDate: 05-04-2011]
Diseases, Lung[accessedResource: MSH:D008171][accessDate: 05-04-2011]
Diseases, Pulmonary[accessedResource: MSH:D008171][accessDate: 05-04-2011]
LUNG DIS[accessedResource: MSH:D008171][accessDate: 05-04-2011]
Lung Diseases[accessedResource: MSH:D008171][accessDate: 05-04-2011]
PULM DIS[accessedResource: MSH:D008171][accessDate: 05-04-2011]
Pathological processes involving any part of the LUNG.
Pathological processes involving any part of the LUNG.[accessedResource: MSH:D008171][accessDate: 05-04-2011]
Pulmonary Disease[accessedResource: MSH:D008171][accessDate: 05-04-2011]
Pulmonary Diseases[accessedResource: MSH:D008171][accessDate: 05-04-2011]
CARIES DENT[accessedResource: MSH:D003731][accessDate: 05-04-2011]
Caries, Dental[accessedResource: MSH:D003731][accessDate: 05-04-2011]
DECAY DENT[accessedResource: MSH:D003731][accessDate: 05-04-2011]
DENT CARIES[accessedResource: MSH:D003731][accessDate: 05-04-2011]
DENT DECAY[accessedResource: MSH:D003731][accessDate: 05-04-2011]
DENT WHITE SPOTS[accessedResource: MSH:D003731][accessDate: 05-04-2011]
DENT WHITE SPOT[accessedResource: MSH:D003731][accessDate: 05-04-2011]
Decay, Dental[accessedResource: MSH:D003731][accessDate: 05-04-2011]
Dental Decay[accessedResource: MSH:D003731][accessDate: 05-04-2011]
Dental White Spot[accessedResource: MSH:D003731][accessDate: 05-04-2011]
Dental White Spots[accessedResource: MSH:D003731][accessDate: 05-04-2011]
Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification.
Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification.[accessedResource: MSH:D003731][accessDate: 05-04-2011]
Spot, White[accessedResource: MSH:D003731][accessDate: 05-04-2011]
Spots, White[accessedResource: MSH:D003731][accessDate: 05-04-2011]
WHITE SPOT DENT[accessedResource: MSH:D003731][accessDate: 05-04-2011]
WHITE SPOTS DENT[accessedResource: MSH:D003731][accessDate: 05-04-2011]
White Spot, Dental[accessedResource: MSH:D003731][accessDate: 05-04-2011]
White Spot[accessedResource: MSH:D003731][accessDate: 05-04-2011]
White Spots, Dental[accessedResource: MSH:D003731][accessDate: 05-04-2011]
White Spots[accessedResource: MSH:D003731][accessDate: 05-04-2011]
BONE NEOPL[accessedResource: MSH:D001859][accessDate: 05-04-2011]
Bone Cancer[accessedResource: MSH:D001859][accessDate: 05-04-2011]
Bone Neoplasms[accessedResource: MSH:D001859][accessDate: 05-04-2011]
Cancer of Bone[accessedResource: MSH:D001859][accessDate: 05-04-2011]
Cancer of the Bone[accessedResource: MSH:D001859][accessDate: 05-04-2011]
NEOPL BONE[accessedResource: MSH:D001859][accessDate: 05-04-2011]
Neoplasm, Bone[accessedResource: MSH:D001859][accessDate: 05-04-2011]
Neoplasms, Bone[accessedResource: MSH:D001859][accessDate: 05-04-2011]
Tumors or cancer located in bone tissue or specific BONES.
Tumors or cancer located in bone tissue or specific BONES.[accessedResource: MSH:D001859][accessDate: 05-04-2011]
A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)
A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Abdominal Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Abdominal Migraines[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Acute Confusional Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Acute Confusional Migraines[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Cervical Migraine Syndrome[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Cervical Migraine Syndromes[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Disorder, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Disorders, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Headache, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Headache, Sick[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Headaches, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Headaches, Sick[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Hemicrania Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Hemicrania Migraines[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine Disorders[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine Headache[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine Headaches[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine Syndrome, Cervical[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine Syndromes, Cervical[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine Variant[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine Variants[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine, Abdominal[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine, Acute Confusional[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine, Hemicrania[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraines, Abdominal[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraines, Acute Confusional[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraines, Hemicrania[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Migraines[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Sick Headache[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Sick Headaches[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Status Migrainosus[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Variant, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Variants, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011]
Active Hyperemia[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Arterial Hyperemia[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Congestion, Venous[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Engorgement, Venous[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Hyperemia, Active[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Hyperemia, Arterial[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Hyperemia, Passive[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Hyperemia, Reactive[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Hyperemias, Reactive[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Hyperemias[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Passive Hyperemia[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Reactive Hyperemia[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Reactive Hyperemias[accessedResource: MSH:D006940][accessDate: 05-04-2011]
The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).
The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).[accessedResource: MSH:D006940][accessDate: 05-04-2011]
The presence of an increased amount of blood in a part or organ; engorgement.
The presence of an increased amount of blood in a part or organ; engorgement.[accessedResource: NCIt:C50588][accessDate: 05-04-2011]
Venous Congestion[accessedResource: MSH:D006940][accessDate: 05-04-2011]
Venous Engorgement[accessedResource: MSH:D006940][accessDate: 05-04-2011]
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Adult Onset Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Adult Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Adult-Onset Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Atrophies, Progressive Muscular[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Atrophy, Myelopathic Muscular[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Atrophy, Progressive Muscular[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Atrophy, Spinal Muscular[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Bulbospinal Neuronopathies[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Bulbospinal Neuronopathy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Distal Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Muscular Atrophies, Progressive[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Muscular Atrophy, Adult Spinal[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Muscular Atrophy, Myelopathic[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Muscular Atrophy, Progressive[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Muscular Atrophy, Spinal[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Myelopathic Muscular Atrophy, Progressive
Myelopathic Muscular Atrophy, Progressive[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Myelopathic Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Neuronopathies, Bulbospinal[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Neuronopathy, Bulbospinal[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Oculopharyngeal Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Progressive Muscular Atrophies[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Progressive Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Progressive Myelopathic Muscular Atrophy
Progressive Myelopathic Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Progressive Proximal Myelopathic Muscular Atrophy
Progressive Proximal Myelopathic Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Proximal Myelopathic Muscular Atrophy, Progressive
Proximal Myelopathic Muscular Atrophy, Progressive[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Spinal Muscular Atrophy, Distal[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Spinal Muscular Atrophy, Oculopharyngeal
Spinal Muscular Atrophy, Oculopharyngeal[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Spinal Muscular Atrophy, Scapuloperoneal Form
Spinal Muscular Atrophy, Scapuloperoneal Form[accessedResource: MSH:D009134][accessDate: 05-04-2011]
Cancer of Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Cancer of the Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Cancer, Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Cancers, Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011]
EYE NEOPL[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Eye Cancer[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Eye Cancers[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Eye Neoplasms[accessedResource: MSH:D005134][accessDate: 05-04-2011]
NEOPL EYE[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Neoplasm, Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Neoplasms, Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011]
Tumors or cancer of the EYE.[accessedResource: MSH:D005134][accessDate: 05-04-2011]
A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)
A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)[accessedResource: MSH:D018284][accessDate: 05-04-2011]
Cystadenocarcinoma, Serous[accessedResource: MSH:D018284][accessDate: 05-04-2011]
Cystadenocarcinomas, Serous[accessedResource: MSH:D018284][accessDate: 05-04-2011]
Serous Cystadenocarcinoma[accessedResource: MSH:D018284][accessDate: 05-04-2011]
Serous Cystadenocarcinomas[accessedResource: MSH:D018284][accessDate: 05-04-2011]
Cancer of Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Cancer of the Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Cancer, Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Cancers, Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Gland Neoplasm, Salivary[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Gland Neoplasms, Salivary[accessedResource: MSH:D012468][accessDate: 05-04-2011]
NEOPL SALIVARY GLAND[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Neoplasm, Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Neoplasms, Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011]
SALIVARY GLAND NEOPL[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Salivary Gland Cancer[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Salivary Gland Cancers[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Salivary Gland Neoplasms[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Tumors or cancer of the SALIVARY GLANDS.
Tumors or cancer of the SALIVARY GLANDS.[accessedResource: MSH:D012468][accessDate: 05-04-2011]
Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.
Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.[accessedResource: MSH:D011655][accessDate: 05-04-2011]
EMBOLISM PULM[accessedResource: MSH:D011655][accessDate: 05-04-2011]
EMBOLISMS PULM[accessedResource: MSH:D011655][accessDate: 05-04-2011]
Embolism, Pulmonary[accessedResource: MSH:D011655][accessDate: 05-04-2011]
Embolisms, Pulmonary[accessedResource: MSH:D011655][accessDate: 05-04-2011]
PULM EMBOLISMS[accessedResource: MSH:D011655][accessDate: 05-04-2011]
PULM EMBOLISM[accessedResource: MSH:D011655][accessDate: 05-04-2011]
PULM THROMBOEMBOLISMS[accessedResource: MSH:D011655][accessDate: 05-04-2011]
PULM THROMBOEMBOLISM[accessedResource: MSH:D011655][accessDate: 05-04-2011]
Pulmonary Embolisms[accessedResource: MSH:D011655][accessDate: 05-04-2011]
Pulmonary Thromboembolism[accessedResource: MSH:D011655][accessDate: 05-04-2011]
Pulmonary Thromboembolisms[accessedResource: MSH:D011655][accessDate: 05-04-2011]
THROMBOEMBOLISMS PULM[accessedResource: MSH:D011655][accessDate: 05-04-2011]
Thromboembolism, Pulmonary[accessedResource: MSH:D011655][accessDate: 05-04-2011]
Thromboembolisms, Pulmonary[accessedResource: MSH:D011655][accessDate: 05-04-2011]
Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.
Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.[accessedResource: MSH:D013120][accessDate: 05-04-2011]
INTRADURAL EXTRAMEDULLARY SPINAL CORD NEOPL
INTRADURAL EXTRAMEDULLARY SPINAL CORD NEOPL[accessedResource: MSH:D013120][accessDate: 05-04-2011]
INTRAMEDULLARY SPINAL CORD NEOPL[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Intradural Extramedullary Spinal Cord Neoplasms
Intradural Extramedullary Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Intradural-Extramedullary Spinal Cord Neoplasms
Intradural-Extramedullary Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Intramedullary Spinal Cord Neoplasms, Primary
Intramedullary Spinal Cord Neoplasms, Primary[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Intramedullary Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011]
NEOPL SPINAL CORD[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Neoplasm, Spinal Cord[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Neoplasms, Spinal Cord[accessedResource: MSH:D013120][accessDate: 05-04-2011]
PRIMARY INTRAMEDULLARY SPINAL CORD NEOPL
PRIMARY INTRAMEDULLARY SPINAL CORD NEOPL[accessedResource: MSH:D013120][accessDate: 05-04-2011]
PRIMARY SPINAL CORD NEOPL INTRAMEDULLARY
PRIMARY SPINAL CORD NEOPL INTRAMEDULLARY[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Primary Intramedullary Spinal Cord Neoplasms
Primary Intramedullary Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Primary Spinal Cord Neoplasms, Intramedullary
Primary Spinal Cord Neoplasms, Intramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011]
SPINAL CORD NEOPL BENIGN[accessedResource: MSH:D013120][accessDate: 05-04-2011]
SPINAL CORD NEOPL INTRADURAL EXTRAMEDULLARY
SPINAL CORD NEOPL INTRADURAL EXTRAMEDULLARY[accessedResource: MSH:D013120][accessDate: 05-04-2011]
SPINAL CORD NEOPL INTRAMEDULLARY[accessedResource: MSH:D013120][accessDate: 05-04-2011]
SPINAL CORD NEOPL MALIGNANT[accessedResource: MSH:D013120][accessDate: 05-04-2011]
SPINAL CORD NEOPL PRIMARY INTRAMEDULLARY
SPINAL CORD NEOPL PRIMARY INTRAMEDULLARY[accessedResource: MSH:D013120][accessDate: 05-04-2011]
SPINAL CORD NEOPL[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Neoplasms, Benign[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Neoplasms, Intradural Extramedullary
Spinal Cord Neoplasms, Intradural Extramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Neoplasms, Intradural-Extramedullary
Spinal Cord Neoplasms, Intradural-Extramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Neoplasms, Intramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Neoplasms, Malignant[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Neoplasms, Primary Intramedullary
Spinal Cord Neoplasms, Primary Intramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Tumor[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Spinal Cord Tumors[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Tumor, Spinal Cord[accessedResource: MSH:D013120][accessDate: 05-04-2011]
Tumors, Spinal Cord[accessedResource: MSH:D013120][accessDate: 05-04-2011]
A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)
A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)[accessedResource: MSH:D000437][accessDate: 05-04-2011]
ALCOHOL RELATED DIS[accessedResource: MSH:D019973][accessDate: 05-04-2011]
ALCOHOLIC INTOX CHRONIC[accessedResource: MSH:D000437][accessDate: 05-04-2011]
Abuse, Alcohol[accessedResource: MSH:D000437][accessDate: 05-04-2011]
Alcohol Abuse[accessedResource: MSH:D000437][accessDate: 05-04-2011]
Alcohol Related Disorders[accessedResource: MSH:D019973][accessDate: 05-04-2011]
Alcohol-Related Disorder[accessedResource: MSH:D019973][accessDate: 05-04-2011]
Alcohol-Related Disorders[accessedResource: MSH:D019973][accessDate: 05-04-2011]
Alcoholic Intoxication, Chronic[accessedResource: MSH:D000437][accessDate: 05-04-2011]
Alcoholism[accessedResource: MSH:D000437][accessDate: 05-04-2011]
Chronic Alcoholic Intoxication[accessedResource: MSH:D000437][accessDate: 05-04-2011]
Disorder, Alcohol-Related[accessedResource: MSH:D019973][accessDate: 05-04-2011]
Disorders related to or resulting from abuse or mis-use of alcohol.
Disorders related to or resulting from abuse or mis-use of alcohol.[accessedResource: MSH:D019973][accessDate: 05-04-2011]
Disorders, Alcohol-Related[accessedResource: MSH:D019973][accessDate: 05-04-2011]
Intoxication, Chronic Alcoholic[accessedResource: MSH:D000437][accessDate: 05-04-2011]
Acute Bacterial Prostatitides[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Acute Bacterial Prostatitis[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Asymptomatic Inflammatory Prostatitides[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Asymptomatic Inflammatory Prostatitis[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Bacterial Prostatitides, Acute[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Bacterial Prostatitides, Chronic[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Bacterial Prostatitis, Acute[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Bacterial Prostatitis, Chronic[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Chronic Bacterial Prostatitides[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Chronic Bacterial Prostatitis[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Chronic Prostatitis with Chronic Pelvic Pain Syndrome
Chronic Prostatitis with Chronic Pelvic Pain Syndrome[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment.
Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment.[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Inflammatory Prostatitis, Asymptomatic[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Prostatitides, Chronic Bacterial[accessedResource: MSH:D011472][accessDate: 05-04-2011]
Prostatitides[accessedResource: MSH:D011472][accessDate: 05-04-2011]
AUTOSOMAL CHROMOSOME DIS[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Autosomal Chromosome Disorder[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Autosomal Chromosome Disorders[accessedResource: MSH:D025063][accessDate: 05-04-2011]
CHROMOSOMAL DIS[accessedResource: MSH:D025063][accessDate: 05-04-2011]
CHROMOSOME ABNORM DIS[accessedResource: MSH:D025063][accessDate: 05-04-2011]
CHROMOSOME DIS[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Chromosomal Disorder[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Chromosomal Disorders[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Chromosome Abnormality Disorder[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Chromosome Abnormality Disorders[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Chromosome Disorder, Autosomal[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Chromosome Disorders, Autosomal[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Chromosome Disorders[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Disorder, Chromosomal[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Disorder, Chromosome Abnormality[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Disorder, Chromosome[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Disorders, Chromosomal[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Disorders, Chromosome[accessedResource: MSH:D025063][accessDate: 05-04-2011]
Bladder Disease, Gall[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Bladder Diseases, Gall[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Disease, Gall Bladder[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Disease, Gallbladder[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases.
Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases.[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Diseases, Gall Bladder[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Diseases, Gallbladder[accessedResource: MSH:D005705][accessDate: 05-04-2011]
GALL BLADDER DIS[accessedResource: MSH:D005705][accessDate: 05-04-2011]
GALLBLADDER DIS[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Gall Bladder Diseases[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Gallbladder Disease[accessedResource: MSH:D005705][accessDate: 05-04-2011]
Gallbladder Diseases[accessedResource: MSH:D005705][accessDate: 05-04-2011]
BENIGN NEOPL BRAIN[accessedResource: MSH:D001932][accessDate: 05-04-2011]
BRAIN NEOPL BENIGN[accessedResource: MSH:D001932][accessDate: 05-04-2011]
BRAIN NEOPL MALIGNANT PRIMARY[accessedResource: MSH:D001932][accessDate: 05-04-2011]
BRAIN NEOPL MALIGNANT[accessedResource: MSH:D001932][accessDate: 05-04-2011]
BRAIN NEOPL PRIMARY MALIGNANT[accessedResource: MSH:D001932][accessDate: 05-04-2011]
BRAIN NEOPL PRIMARY[accessedResource: MSH:D001932][accessDate: 05-04-2011]
BRAIN NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Benign Brain Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Benign Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Benign Neoplasm, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Benign Neoplasms, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Benign Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Benign Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Cancer[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Cancers[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Malignant Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Malignant Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasm, Benign[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasm, Malignant[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasm, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasms, Benign[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasms, Malignant, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasms, Malignant[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasms, Primary Malignant[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasms, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Tumor, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Tumor, Recurrent[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Tumor[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Tumors, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Tumors, Recurrent[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Cancer of Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Cancer of the Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Cancer, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Cancers, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
INTRACRANIAL NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Intracranial Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Intracranial Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
MALIGNANT NEOPL BRAIN[accessedResource: MSH:D001932][accessDate: 05-04-2011]
MALIGNANT PRIMARY BRAIN NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Malignant Brain Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Malignant Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Malignant Neoplasm, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Malignant Neoplasms, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Malignant Primary Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Malignant Primary Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011]
NEOPL BRAIN BENIGN[accessedResource: MSH:D001932][accessDate: 05-04-2011]
NEOPL BRAIN MALIGNANT[accessedResource: MSH:D001932][accessDate: 05-04-2011]
NEOPL BRAIN PRIMARY[accessedResource: MSH:D001932][accessDate: 05-04-2011]
NEOPL BRAIN[accessedResource: MSH:D001932][accessDate: 05-04-2011]
NEOPL INTRACRANIAL[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Neoplasm, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Neoplasm, Intracranial[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Neoplasms, Brain, Benign[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Neoplasms, Brain, Malignant[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Neoplasms, Brain, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Neoplasms, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Neoplasms, Intracranial[accessedResource: MSH:D001932][accessDate: 05-04-2011]
PRIMARY BRAIN NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011]
PRIMARY MALIGNANT BRAIN NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Primary Brain Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Primary Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Primary Brain Tumor[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Primary Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Primary Malignant Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Primary Malignant Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Recurrent Brain Tumor[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Recurrent Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Tumor, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
Tumors, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011]
A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID).
A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID).[accessedResource: MSH:D008178][accessDate: 05-04-2011]
Lupus Erythematosus, Cutaneous, Subacute
Lupus Erythematosus, Cutaneous, Subacute[accessedResource: MSH:D008178][accessDate: 05-04-2011]
Lupus Erythematosus, Cutaneous[accessedResource: MSH:D008178][accessDate: 05-04-2011]
Lupus Erythematosus, Subacute Cutaneous[accessedResource: MSH:D008178][accessDate: 05-04-2011]
ANAL NEOPL[accessedResource: MSH:D001005][accessDate: 05-04-2011]
ANUS NEOPL[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Anal Cancer[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Anal Cancers[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Anal Neoplasms[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Anus Cancer[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Anus Cancers[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Anus Neoplasm[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Anus Neoplasms[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Cancer of Anus[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Cancer of the Anus[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Cancer, Anal[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Cancers, Anal[accessedResource: MSH:D001005][accessDate: 05-04-2011]
NEOPL ANAL[accessedResource: MSH:D001005][accessDate: 05-04-2011]
NEOPL ANUS[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Neoplasm, Anal[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Neoplasm, Anus[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Neoplasms, Anal[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Neoplasms, Anus[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Tumors or cancer of the ANAL CANAL.[accessedResource: MSH:D001005][accessDate: 05-04-2011]
Circulating Lipoproteins[accessedResource: MSH:D008074][accessDate: 05-04-2011]
Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.
Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.[accessedResource: MSH:D008074][accessDate: 05-04-2011]
Lipoproteins, Circulating[accessedResource: MSH:D008074][accessDate: 05-04-2011]
Lipoproteins[accessedResource: MSH:D008074][accessDate: 05-04-2011]
Bone Mineralization[accessedResource: MSH:D002113][accessDate: 05-04-2011]
CALCIFICATION PHYSIOL[accessedResource: MSH:D002113][accessDate: 05-04-2011]
CALCIUM DEPOSIT(S)[accessedResource: NCIt:C3672][accessDate: 05-04-2011]
Calcification, Physiologic[accessedResource: MSH:D002113][accessDate: 05-04-2011]
Calcification, Physiological[accessedResource: MSH:D002113][accessDate: 05-04-2011]
DEPOSIT(S), CALCIUM[accessedResource: NCIt:C3672][accessDate: 05-04-2011]
Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.
Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.[accessedResource: NCIt:C3672][accessDate: 05-04-2011]
Mineralization, Bone[accessedResource: MSH:D002113][accessDate: 05-04-2011]
PHYSIOL CALCIFICATION[accessedResource: MSH:D002113][accessDate: 05-04-2011]
Physiologic Calcification[accessedResource: MSH:D002113][accessDate: 05-04-2011]
Physiological Calcification[accessedResource: MSH:D002113][accessDate: 05-04-2011]
Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts.
Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts.[accessedResource: MSH:D002113][accessDate: 05-04-2011]
calcinosis[accessedResource: NCIt:C3672][accessDate: 05-04-2011]
macrocalcification[accessedResource: NCIt:C3672][accessDate: 05-04-2011]
A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.
A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.[accessedResource: MSH:D007249][accessDate: 05-04-2011]
INFLAMM[accessedResource: MSH:D007249][accessDate: 05-04-2011]
Inflammations[accessedResource: MSH:D007249][accessDate: 05-04-2011]
Replaced with an import from GO 'inflammatory response' under process.
Any disease or disorder of the retina.[accessedResource: NCIt:C62601][accessDate: 05-04-2011]
A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)
A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)[accessedResource: MSH:D020528][accessDate: 05-04-2011]
MS CHRONIC PROGRESSIVE[accessedResource: MSH:D020528][accessDate: 05-04-2011]
MULTIPLE SCLEROSIS SECOND PROGRESSIVE[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Multiple Sclerosis, Chronic Progressive[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Multiple Sclerosis, Primary Progressive[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Multiple Sclerosis, Progressive Relapsing
Multiple Sclerosis, Progressive Relapsing[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Multiple Sclerosis, Remittent Progressive
Multiple Sclerosis, Remittent Progressive[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Multiple Sclerosis, Secondary Progressive
Multiple Sclerosis, Secondary Progressive[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Primary Progressive Multiple Sclerosis[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Progressive Relapsing Multiple Sclerosis
Progressive Relapsing Multiple Sclerosis[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Remittent Progressive Multiple Sclerosis
Remittent Progressive Multiple Sclerosis[accessedResource: MSH:D020528][accessDate: 05-04-2011]
SECOND PROGRESSIVE MULTIPLE SCLEROSIS[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Secondary Progressive Multiple Sclerosis
Secondary Progressive Multiple Sclerosis[accessedResource: MSH:D020528][accessDate: 05-04-2011]
Adenoma, Thyroid[accessedResource: MSH:D013964][accessDate: 05-04-2011]
NEOPL THYROID[accessedResource: MSH:D013964][accessDate: 05-04-2011]
Neoplasm, Thyroid[accessedResource: MSH:D013964][accessDate: 05-04-2011]
Neoplasms, Thyroid[accessedResource: MSH:D013964][accessDate: 05-04-2011]
THYROID NEOPL[accessedResource: MSH:D013964][accessDate: 05-04-2011]
Thyroid Adenoma[accessedResource: MSH:D013964][accessDate: 05-04-2011]
Thyroid Neoplasms[accessedResource: MSH:D013964][accessDate: 05-04-2011]
Bones of Lower Extremity[accessedResource: MSH:D050281][accessDate: 05-04-2011]
Extremity Bones, Lower[accessedResource: MSH:D050281][accessDate: 05-04-2011]
Lower Extremity Bones[accessedResource: MSH:D050281][accessDate: 05-04-2011]
The bones of the upper and lower LEG. They include the PELVIC BONES.
The bones of the upper and lower LEG. They include the PELVIC BONES.[accessedResource: MSH:D050281][accessDate: 05-04-2011]
Ache[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Aches[accessedResource: MSH:D010146][accessDate: 05-04-2011]
An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Burning Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Burning Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Crushing Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Crushing Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Migratory Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Migratory Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pain, Burning[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pain, Crushing[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pain, Migratory[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pain, Radiating[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pain, Splitting[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pains, Burning[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pains, Crushing[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pains, Migratory[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pains, Radiating[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Pains, Splitting[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Physical Suffering[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Physical Sufferings[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Radiating Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Radiating Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Splitting Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Splitting Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Suffering, Physical[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Sufferings, Physical[accessedResource: MSH:D010146][accessDate: 05-04-2011]
Cancer of Ureter[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Cancer of the Ureter[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom.
Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom.[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Cancer, Ureteral[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Cancers, Ureteral[accessedResource: MSH:D014516][accessDate: 05-04-2011]
NEOPL URETERAL[accessedResource: MSH:D014516][accessDate: 05-04-2011]
NEOPL URETER[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Neoplasm, Ureteral[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Neoplasms of Ureter[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Neoplasms, Ureteral[accessedResource: MSH:D014516][accessDate: 05-04-2011]
URETER NEOPL[accessedResource: MSH:D014516][accessDate: 05-04-2011]
URETERAL NEOPL[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Ureter Cancer[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Ureter Cancers[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Ureter Neoplasm[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Ureter Neoplasms[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Ureteral Cancer[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Ureteral Cancers[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Ureteral Neoplasms[accessedResource: MSH:D014516][accessDate: 05-04-2011]
Calculi, Kidney[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Calculi, Renal[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Calculus, Kidney[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Calculus, Renal[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Kidney Calculi[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Kidney Calculus[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Kidney Stones[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Renal Calculi[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Renal Calculus[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Stone, Kidney[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE.
Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE.[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Stones, Kidney[accessedResource: MSH:D007669][accessDate: 05-04-2011]
Cancer of Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Cancer of the Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males.
Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males.[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Cancer, Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Cancer, Urethral[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Cancers, Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Cancers, Urethral[accessedResource: MSH:D014523][accessDate: 05-04-2011]
NEOPL URETHRAL[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Neoplasm, Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Neoplasm, Urethral[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Neoplasms, Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Neoplasms, Urethral[accessedResource: MSH:D014523][accessDate: 05-04-2011]
URETHRA NEOPL[accessedResource: MSH:D014523][accessDate: 05-04-2011]
URETHRAL NEOPL[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Urethra Cancer[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Urethra Cancers[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Urethra Neoplasm[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Urethra Neoplasms[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Urethral Cancer[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Urethral Cancers[accessedResource: MSH:D014523][accessDate: 05-04-2011]
Urethral Neoplasms[accessedResource: MSH:D014523][accessDate: 05-04-2011]
DEFIC MENTAL[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Deficiencies, Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Deficiency, Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Disabilities, Intellectual[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Disability, Intellectual[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Idiocy[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Intellectual Disabilities[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Intellectual Disability[accessedResource: MSH:D008607][accessDate: 05-04-2011]
MENTAL DEFIC[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Mental Deficiencies[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Mental Deficiency[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Mental Retardation, Psychosocial[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Mental Retardations, Psychosocial[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Psychosocial Mental Retardation[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Psychosocial Mental Retardations[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Retardation, Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Retardation, Psychosocial Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Retardations, Psychosocial Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011]
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)[accessedResource: MSH:D008607][accessDate: 05-04-2011]
ABNORM CARDIOVASC[accessedResource: MSH:D018376][accessDate: 05-04-2011]
Abnormalities, Cardiovascular[accessedResource: MSH:D018376][accessDate: 05-04-2011]
Abnormality, Cardiovascular[accessedResource: MSH:D018376][accessDate: 05-04-2011]
CARDIOVASC ABNORM[accessedResource: MSH:D018376][accessDate: 05-04-2011]
Cardiovascular Abnormalities[accessedResource: MSH:D018376][accessDate: 05-04-2011]
Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.
Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.[accessedResource: MSH:D018376][accessDate: 05-04-2011]
organisational class no longer needed (no child classes)
Neoplasm, Palatal[accessedResource: MSH:D010157][accessDate: 05-04-2011]
Neoplasms, Palatal[accessedResource: MSH:D010157][accessDate: 05-04-2011]
PALATAL NEOPL[accessedResource: MSH:D010157][accessDate: 05-04-2011]
Palatal Neoplasms[accessedResource: MSH:D010157][accessDate: 05-04-2011]
Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA.
Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA.[accessedResource: MSH:D010157][accessDate: 05-04-2011]
ADRENAL GLAND NEOPL[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Adrenal Cancer[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Adrenal Cancers[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Adrenal Gland Cancer[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Adrenal Gland Cancers[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Adrenal Gland Neoplasms[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Adrenal Neoplasm[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Adrenal Neoplasms[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Cancer of the Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Cancer, Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Cancer, Adrenal[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Cancers, Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Cancers, Adrenal[accessedResource: MSH:D000310][accessDate: 05-04-2011]
NEOPL ADRENAL GLAND[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Neoplasm, Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Neoplasm, Adrenal[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Neoplasms, Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Neoplasms, Adrenal[accessedResource: MSH:D000310][accessDate: 05-04-2011]
Tumors or cancer of the ADRENAL GLANDS.[accessedResource: MSH:D000310][accessDate: 05-04-2011]
BENIGN MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Benign Meningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Benign Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord.
Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord.[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Cancer, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Cancers, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
INTRACRANIAL MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Intracranial Meningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Intracranial Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011]
LEPTOMENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Leptomeningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Leptomeningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011]
MALIGNANT MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
MENINGEAL NEOPL BENIGN[accessedResource: MSH:D008577][accessDate: 05-04-2011]
MENINGEAL NEOPL INTRACRANIAL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
MENINGEAL NEOPL MALIGNANT[accessedResource: MSH:D008577][accessDate: 05-04-2011]
MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Malignant Meningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Malignant Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Cancer[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Cancers[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasm, Benign[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasm, Intracranial[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasm, Malignant[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasm, Spinal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasms, Benign[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasms, Intracranial[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasms, Malignant[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasms, Spinal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Tumor[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Meningeal Tumors[accessedResource: MSH:D008577][accessDate: 05-04-2011]
NEOPL LEPTOMENINGEAL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
NEOPL MENINGEAL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasm, Benign Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasm, Intracranial Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasm, Leptomeningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasm, Malignant Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasm, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasm, Spinal Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasms, Benign Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasms, Intracranial Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasms, Leptomeningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasms, Malignant Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasms, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Neoplasms, Spinal Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
SPINAL MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Spinal Meningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Spinal Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Tumor, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
Tumors, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011]
CHILD DEVELOPMENT DIS SPECIFIC[accessedResource: MSH:D002658][accessDate: 05-04-2011]
CHILD DEVELOPMENT DIS[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Child Development Deviation[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Child Development Deviations[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Child Development Disorder[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Child Development Disorders, Specific[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Child Development Disorders[accessedResource: MSH:D002658][accessDate: 05-04-2011]
DEVELOPMENT DIS CHILD[accessedResource: MSH:D002658][accessDate: 05-04-2011]
DEVELOPMENTAL DELAY DIS[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Development Deviation, Child[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Development Deviations, Child[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Development Disorder, Child[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Development Disorders, Child[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Developmental Delay Disorder[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Developmental Delay Disorders[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Developmental Disabilities[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Deviation, Child Development[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Disabilities, Developmental[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Disability, Developmental[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)[accessedResource: MSH:D002658][accessDate: 05-04-2011]
Neoplasm, Respiratory Tract[accessedResource: MSH:D012142][accessDate: 05-04-2011]
Neoplasms, Respiratory Tract[accessedResource: MSH:D012142][accessDate: 05-04-2011]
RESPIRATORY TRACT NEOPL[accessedResource: MSH:D012142][accessDate: 05-04-2011]
Respiratory Tract Neoplasm[accessedResource: MSH:D012142][accessDate: 05-04-2011]
Respiratory Tract Neoplasms[accessedResource: MSH:D012142][accessDate: 05-04-2011]
Tract Neoplasm, Respiratory[accessedResource: MSH:D012142][accessDate: 05-04-2011]
Tract Neoplasms, Respiratory[accessedResource: MSH:D012142][accessDate: 05-04-2011]
Bone Loss, Perimenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Bone Loss, Postmenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Bone Losses, Perimenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Bone Losses, Postmenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.
Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Osteoporoses, Post-Menopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Osteoporoses, Postmenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Osteoporosis, Post Menopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Osteoporosis, Post-Menopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Osteoporosis, Postmenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Perimenopausal Bone Loss[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Perimenopausal Bone Losses[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Post-Menopausal Osteoporoses[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Post-Menopausal Osteoporosis[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Postmenopausal Bone Loss[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Postmenopausal Bone Losses[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Postmenopausal Osteoporoses[accessedResource: MSH:D015663][accessDate: 05-04-2011]
Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.
Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.[accessedResource: MSH:D007417][accessDate: 05-04-2011]
Intestinal Polyps[accessedResource: MSH:D007417][accessDate: 05-04-2011]
Polyp, Intestinal[accessedResource: MSH:D007417][accessDate: 05-04-2011]
Polyps, Intestinal[accessedResource: MSH:D007417][accessDate: 05-04-2011]
Dissections[accessedResource: MSH:D004210][accessDate: 05-04-2011]
The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures.
The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures.[accessedResource: MSH:D004210][accessDate: 05-04-2011]
AMYOPLASIA CONGEN[accessedResource: MSH:D001176][accessDate: 05-04-2011]
ARTHROMYODYSPLASIA CONGEN[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Amyoplasia Congenita[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Arthrogryposes[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Arthromyodysplasia, Congenital[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Arthromyodysplasias, Congenital[accessedResource: MSH:D001176][accessDate: 05-04-2011]
CONGEN ARTHROMYODYSPLASIA[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Congenital Arthromyodysplasia[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Congenital Arthromyodysplasias[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Guerin Stern Syndrome[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Guerin-Stern Syndrome[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Myodystrophia Fetalis Deformans[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Persistent flexure or contracture of a joint. (Dorland, 27th ed)
Persistent flexure or contracture of a joint. (Dorland, 27th ed)[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Syndrome, Guerin-Stern[accessedResource: MSH:D001176][accessDate: 05-04-2011]
Cancer of Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Cancer of the Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Cancer, Uterine[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Cancer, Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Cancers, Uterine[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Cancers, Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011]
NEOPL UTERINE[accessedResource: MSH:D014594][accessDate: 05-04-2011]
NEOPL UTERUS[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Neoplasm, Uterine[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Neoplasm, Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Neoplasms, Uterine[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Neoplasms, Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Tumors or cancer of the UTERUS.[accessedResource: MSH:D014594][accessDate: 05-04-2011]
UTERINE NEOPL[accessedResource: MSH:D014594][accessDate: 05-04-2011]
UTERUS NEOPL[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Uterine Cancer[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Uterine Cancers[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Uterine Neoplasms[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Uterus Cancer[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Uterus Cancers[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Uterus Neoplasm[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Uterus Neoplasms[accessedResource: MSH:D014594][accessDate: 05-04-2011]
Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).
Amentia[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Amentias[accessedResource: MSH:D003704][accessDate: 05-04-2011]
An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.
An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Dementia, Familial[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Dementias, Familial[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Dementias, Senile Paranoid[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Dementias[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Familial Dementia[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Familial Dementias[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Paranoid Dementia, Senile[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Paranoid Dementias, Senile[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Senile Paranoid Dementia[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Senile Paranoid Dementias[accessedResource: MSH:D003704][accessDate: 05-04-2011]
Cancer, Genito-urinary[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Cancer, Genitourinary[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Cancer, Urogenital[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Cancers, Genito-urinary[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Cancers, Genitourinary[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Cancers, Urogenital[accessedResource: MSH:D014565][accessDate: 05-04-2011]
GENITO URINARY NEOPL[accessedResource: MSH:D014565][accessDate: 05-04-2011]
GENITOURINARY NEOPL[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genito urinary Cancer[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genito-urinary Cancer[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genito-urinary Cancers[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genito-urinary Neoplasm[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genito-urinary Neoplasms[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genitourinary Cancer[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genitourinary Cancers[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genitourinary Neoplasm[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Genitourinary Neoplasms[accessedResource: MSH:D014565][accessDate: 05-04-2011]
NEOPL GENITOURINARY[accessedResource: MSH:D014565][accessDate: 05-04-2011]
NEOPL UROGENITAL[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Neoplasm, Genito-urinary[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Neoplasm, Genitourinary[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Neoplasm, Urogenital[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Neoplasms, Genito-urinary[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Neoplasms, Genitourinary[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Neoplasms, Urogenital[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.
Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.[accessedResource: MSH:D014565][accessDate: 05-04-2011]
UROGENITAL NEOPL[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Urogenital Cancer[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Urogenital Cancers[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Urogenital Neoplasms[accessedResource: MSH:D014565][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0004122 label: genitourinary system
Cancer of Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Cancer of the Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Cancer, Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Cancer, Renal[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Cancers, Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Cancers, Renal[accessedResource: MSH:D007680][accessDate: 05-04-2011]
KIDNEY NEOPL[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Kidney Cancer[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Kidney Cancers[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Kidney Neoplasms[accessedResource: MSH:D007680][accessDate: 05-04-2011]
NEOPL KIDNEY[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Neoplasm, Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Neoplasm, Renal[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Neoplasms, Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Neoplasms, Renal[accessedResource: MSH:D007680][accessDate: 05-04-2011]
RENAL NEOPL[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Renal Cancer[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Renal Cancers[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Renal Neoplasm[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Renal Neoplasms[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Tumors or cancers of the KIDNEY.[accessedResource: MSH:D007680][accessDate: 05-04-2011]
Cancer of Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Cancer, Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Cancers, Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011]
NEOPL PARANASAL SINUS[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Neoplasm, Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Neoplasms, Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011]
PARANASAL SINUS NEOPL[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Paranasal Sinus Cancer[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Paranasal Sinus Cancers[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Paranasal Sinus Neoplasms[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Tumors or cancer of the PARANASAL SINUSES.
Tumors or cancer of the PARANASAL SINUSES.[accessedResource: MSH:D010255][accessDate: 05-04-2011]
Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.
Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.[accessedResource: MSH:D012206][accessDate: 05-04-2011]
Rhabdomyolyses[accessedResource: MSH:D012206][accessDate: 05-04-2011]
Cancer of Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Cancer of the Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Cancer, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Cancer, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Cancers, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Cancers, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011]
MOUTH NEOPL[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Mouth Cancer[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Mouth Cancers[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Mouth Neoplasms[accessedResource: MSH:D009062][accessDate: 05-04-2011]
NEOPL MOUTH[accessedResource: MSH:D009062][accessDate: 05-04-2011]
NEOPL ORAL[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Neoplasm, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Neoplasm, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Neoplasms, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Neoplasms, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011]
ORAL NEOPL[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Oral Cancer[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Oral Cancers[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Oral Neoplasm[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Oral Neoplasms[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Tumors or cancer of the MOUTH.[accessedResource: MSH:D009062][accessDate: 05-04-2011]
Abnormal growth located in the breast or mammory gland.
Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)
Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Anterior Cerebral Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Anterior Communicating Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Basilar Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Berry[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Brain[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Cerebral[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Giant Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Intracranial Mycotic[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Middle Cerebral Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Posterior Cerebral Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysm, Posterior Communicating Artery
Aneurysm, Posterior Communicating Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysms, Basilar Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysms, Berry[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysms, Brain[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysms, Cerebral[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysms, Giant Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysms, Intracranial Mycotic[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Aneurysms, Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Anterior Cerebral Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Anterior Communicating Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Artery Aneurysm, Basilar[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Artery Aneurysms, Basilar[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Basilar Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Basilar Artery Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Berry Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Berry Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Brain Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Cerebral Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Cerebral Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Giant Intracranial Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Giant Intracranial Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Intracranial Aneurysm, Giant[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Intracranial Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Intracranial Aneurysms, Giant[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Intracranial Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Intracranial Mycotic Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Intracranial Mycotic Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Middle Cerebral Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Mycotic Aneurysm, Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Mycotic Aneurysms, Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation.
Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation.[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Posterior Cerebral Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Posterior Communicating Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011]
Cancer of Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Cancer of the Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Cancer, Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Cancers, Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Mouth Neoplasm[accessedResource: MSH:D009062][accessDate: 05-04-2011]
NEOPL TONGUE[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Neoplasm, Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Neoplasms, Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011]
TONGUE NEOPL[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Tongue Cancer[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Tongue Cancers[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Tongue Neoplasms[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Tumors or cancer of the TONGUE.[accessedResource: MSH:D014062][accessDate: 05-04-2011]
Colitides[accessedResource: MSH:D003092][accessDate: 05-04-2011]
Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER.
Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER.[accessedResource: MSH:D003092][accessDate: 05-04-2011]
Cancer of Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Cancer of the Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Cancer, Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Cancers, Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011]
NEOPL PAROTID[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Neoplasm, Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Neoplasms, Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011]
PAROTID NEOPL[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Parotid Cancer[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Parotid Cancers[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Parotid Neoplasms[accessedResource: MSH:D010307][accessDate: 05-04-2011]
Tumors or cancer of the PAROTID GLAND.[accessedResource: MSH:D010307][accessDate: 05-04-2011]
A condition in which one or more of the arches of the foot have flattened out.
A condition in which one or more of the arches of the foot have flattened out.[accessedResource: MSH:D005413][accessDate: 05-04-2011]
Feet, Flat[accessedResource: MSH:D005413][accessDate: 05-04-2011]
Flat Feet[accessedResource: MSH:D005413][accessDate: 05-04-2011]
Flat Foot[accessedResource: MSH:D005413][accessDate: 05-04-2011]
Flatfeet[accessedResource: MSH:D005413][accessDate: 05-04-2011]
Foot, Flat[accessedResource: MSH:D005413][accessDate: 05-04-2011]
Pes Planus[accessedResource: MSH:D005413][accessDate: 05-04-2011]
Angiopathies, Peripheral[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Angiopathy, Peripheral[accessedResource: MSH:D016491][accessDate: 05-04-2011]
DIS PERIPHERAL VASCULAR[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Disease, Peripheral Vascular[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Diseases, Peripheral Vascular[accessedResource: MSH:D016491][accessDate: 05-04-2011]
PERIPHERAL VASCULAR DIS[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.
Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Peripheral Angiopathies[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Peripheral Angiopathy[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Peripheral Vascular Diseases[accessedResource: MSH:D016491][accessDate: 05-04-2011]
VASCULAR DIS PERIPHERAL[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Vascular Disease, Peripheral[accessedResource: MSH:D016491][accessDate: 05-04-2011]
Vascular Diseases, Peripheral[accessedResource: MSH:D016491][accessDate: 05-04-2011]
A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE.
A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE.[accessedResource: MSH:D007383][accessDate: 05-04-2011]
Claudication, Intermittent[accessedResource: MSH:D007383][accessDate: 05-04-2011]
Intermittent Claudication[accessedResource: MSH:D007383][accessDate: 05-04-2011]
Apnea Syndrome, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Apnea Syndromes, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Apnea, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Apneas, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Breathing, Sleep-Disordered[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Hypersomnia with Periodic Respiration[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Hypopnea, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Hypopneas, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Mixed Central and Obstructive Sleep Apnea
Mixed Central and Obstructive Sleep Apnea[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Mixed Sleep Apnea[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Mixed Sleep Apneas[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Apnea Syndrome[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Apnea Syndromes[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Apnea, Mixed Central and Obstructive
Sleep Apnea, Mixed Central and Obstructive[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Apnea, Mixed[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Apneas, Mixed[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Apneas[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Disordered Breathing[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Hypopnea[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep Hypopneas[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Sleep-Disordered Breathing[accessedResource: MSH:D012891][accessDate: 05-04-2011]
Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both.
Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both.[accessedResource: MSH:D014526][accessDate: 05-04-2011]
Urethritides[accessedResource: MSH:D014526][accessDate: 05-04-2011]
Aortic Valves[accessedResource: MSH:D001021][accessDate: 05-04-2011]
The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle.
The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle.[accessedResource: MSH:D001021][accessDate: 05-04-2011]
Valve, Aortic[accessedResource: MSH:D001021][accessDate: 05-04-2011]
Valves, Aortic[accessedResource: MSH:D001021][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002137 label: aortic valve
APPENDICEAL NEOPL[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Appendiceal Cancer[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Appendiceal Neoplasms[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Appendix Cancer[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Cancer of Appendix[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Cancer of the Appendix[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Cancer, Appendiceal[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Cancer, Appendix[accessedResource: MSH:D001063][accessDate: 05-04-2011]
NEOPL APPENDICEAL[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Neoplasm, Appendiceal[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Neoplasms, Appendiceal[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Tumors or cancer of the APPENDIX.[accessedResource: MSH:D001063][accessDate: 05-04-2011]
Excision of the uterus.[accessedResource: MSH:D007044][accessDate: 05-04-2011]
Hysterectomies[accessedResource: MSH:D007044][accessDate: 05-04-2011]
AGE RELAT OSTEOPOROSIS[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Age Related Osteoporosis[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Age-Related Bone Loss[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Age-Related Bone Losses[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Age-Related Osteoporoses[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Age-Related Osteoporosis[accessedResource: MSH:D010024][accessDate: 05-04-2011]
BONE LOSS AGE RELAT[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Bone Loss, Age Related[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Bone Loss, Age-Related[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Bone Losses, Age-Related[accessedResource: MSH:D010024][accessDate: 05-04-2011]
OSTEOPOROSIS AGE RELAT[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Osteoporoses, Age-Related[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Osteoporoses, Senile[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Osteoporoses[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Osteoporosis, Age Related[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Osteoporosis, Age-Related[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Osteoporosis, Post Traumatic[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Osteoporosis, Post-Traumatic[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Osteoporosis, Senile[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Post-Traumatic Osteoporoses[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Post-Traumatic Osteoporosis[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.
Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Senile Osteoporoses[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Senile Osteoporosis[accessedResource: MSH:D010024][accessDate: 05-04-2011]
Brain Ischemias[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Cerebral Ischemia[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Cerebral Ischemias[accessedResource: MSH:D002545][accessDate: 05-04-2011]
ENCEPH ISCHEMIC[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Encephalopathy, Ischemic[accessedResource: MSH:D002545][accessDate: 05-04-2011]
ISCHEMIC ENCEPH[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Ischemia, Brain[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Ischemia, Cerebral[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Ischemias, Cerebral[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Ischemic Encephalopathies[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Ischemic Encephalopathy[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION.
Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION.[accessedResource: MSH:D002545][accessDate: 05-04-2011]
Chronic Kidney Failure[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Chronic Kidney Insufficiencies[accessedResource: MSH:D051436][accessDate: 05-04-2011]
Chronic Kidney Insufficiency[accessedResource: MSH:D051436][accessDate: 05-04-2011]
Chronic Renal Failure[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Chronic Renal Insufficiencies[accessedResource: MSH:D051436][accessDate: 05-04-2011]
Chronic Renal Insufficiency[accessedResource: MSH:D051436][accessDate: 05-04-2011]
Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)
Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)[accessedResource: MSH:D051436][accessDate: 05-04-2011]
Disease, End-Stage Kidney[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Disease, End-Stage Renal[accessedResource: MSH:D007676][accessDate: 05-04-2011]
END STAGE KIDNEY DIS[accessedResource: MSH:D007676][accessDate: 05-04-2011]
END STAGE RENAL DIS[accessedResource: MSH:D007676][accessDate: 05-04-2011]
ESRD[accessedResource: MSH:D007676][accessDate: 05-04-2011]
End Stage Kidney Disease[accessedResource: MSH:D007676][accessDate: 05-04-2011]
End Stage Renal Disease[accessedResource: MSH:D007676][accessDate: 05-04-2011]
End-Stage Kidney Disease[accessedResource: MSH:D007676][accessDate: 05-04-2011]
End-Stage Renal Disease[accessedResource: MSH:D007676][accessDate: 05-04-2011]
End-Stage Renal Failure[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Kidney Disease, End-Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Kidney Failure, Chronic[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Kidney Insufficiencies, Chronic[accessedResource: MSH:D051436][accessDate: 05-04-2011]
Kidney Insufficiency, Chronic[accessedResource: MSH:D051436][accessDate: 05-04-2011]
RENAL DIS END STAGE[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Renal Disease, End Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Renal Disease, End-Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Renal Failure, Chronic[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Renal Failure, End Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Renal Failure, End-Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011]
Renal Insufficiencies, Chronic[accessedResource: MSH:D051436][accessDate: 05-04-2011]
Renal Insufficiency, Chronic[accessedResource: MSH:D051436][accessDate: 05-04-2011]
The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.
The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.[accessedResource: MSH:D007676][accessDate: 05-04-2011]
An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)
An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)[accessedResource: MSH:D009103][accessDate: 05-04-2011]
Disseminated Sclerosis[accessedResource: MSH:D009103][accessDate: 05-04-2011]
MS (Multiple Sclerosis)[accessedResource: MSH:D009103][accessDate: 05-04-2011]
MS[accessedResource: MSH:D009103][accessDate: 05-04-2011]
MULTIPLE SCLEROSIS ACUTE FULMINATING[accessedResource: MSH:D009103][accessDate: 05-04-2011]
Multiple Sclerosis, Acute Fulminating[accessedResource: MSH:D009103][accessDate: 05-04-2011]
Sclerosis, Disseminated[accessedResource: MSH:D009103][accessDate: 05-04-2011]
Sclerosis, Multiple[accessedResource: MSH:D009103][accessDate: 05-04-2011]
Bones, Metacarpal[accessedResource: MSH:D050279][accessDate: 05-04-2011]
Metacarpal Bones[accessedResource: MSH:D050279][accessDate: 05-04-2011]
Metacarpals[accessedResource: MSH:D050279][accessDate: 05-04-2011]
The five cylindrical bones of the METACARPUS, articulating with the CARPAL BONES proximally and the PHALANGES OF FINGERS distally.
The five cylindrical bones of the METACARPUS, articulating with the CARPAL BONES proximally and the PHALANGES OF FINGERS distally.[accessedResource: MSH:D050279][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002374 label: metacarpal bone
Dolens, Phlegmasia Alba[accessedResource: MSH:D013924][accessDate: 05-04-2011]
Inflammation of a vein associated with a blood clot (THROMBUS).
Inflammation of a vein associated with a blood clot (THROMBUS).[accessedResource: MSH:D013924][accessDate: 05-04-2011]
Inflammation that is characterized by swollen, pale, and painful limb. It is usually caused by DEEP VEIN THROMBOSIS in a FEMORAL VEIN, following PARTURITION or an illness. This condition is also called milk leg or white leg.
Inflammation that is characterized by swollen, pale, and painful limb. It is usually caused by DEEP VEIN THROMBOSIS in a FEMORAL VEIN, following PARTURITION or an illness. This condition is also called milk leg or white leg.[accessedResource: MSH:D013924][accessDate: 05-04-2011]
Phlegmasia Alba Dolens[accessedResource: MSH:D013924][accessDate: 05-04-2011]
Thrombophlebitides[accessedResource: MSH:D013924][accessDate: 05-04-2011]
attention deficit hyperactivity disorder
A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)
A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)[accessedResource: MSH:D001289][accessDate: 05-04-2011]
ADDH[accessedResource: MSH:D001289][accessDate: 05-04-2011]
ADHD[accessedResource: MSH:D001289][accessDate: 05-04-2011]
ATTENTION DEFICIT DIS WITH HYPERACTIVITY
ATTENTION DEFICIT DIS WITH HYPERACTIVITY[accessedResource: MSH:D001289][accessDate: 05-04-2011]
ATTENTION DEFICIT DIS[accessedResource: MSH:D001289][accessDate: 05-04-2011]
ATTENTION DEFICIT HYPERACTIVITY DIS[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Attention Deficit Disorder with Hyperactivity
Attention Deficit Disorder with Hyperactivity[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Attention Deficit Disorder[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Attention Deficit Disorders with Hyperactivity
Attention Deficit Disorders with Hyperactivity[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Attention Deficit Disorders[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Attention Deficit Hyperactivity Disorders
Attention Deficit Hyperactivity Disorders[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Brain Dysfunction, Minimal[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Deficit Disorder, Attention[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Deficit Disorders, Attention[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Disorder, Attention Deficit[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Disorders, Attention Deficit[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Dysfunction, Minimal Brain[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Hyperkinetic Syndrome[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Minimal Brain Dysfunction[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Syndromes, Hyperkinetic[accessedResource: MSH:D001289][accessDate: 05-04-2011]
Ambidexterity[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Behavioral Laterality[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.
Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Handedness[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Laterality of Motor Control[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Laterality, Behavioral[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Laterality, Functional[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Mirror Writing[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Mirror Writings[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Motor Control Laterality[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Writing, Mirror[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Writings, Mirror[accessedResource: MSH:D007839][accessDate: 05-04-2011]
Abuse, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Abuse, Substance[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Abuses, Substance[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Addiction, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Addiction, Substance[accessedResource: MSH:D019966][accessDate: 05-04-2011]
DRUG USE DIS[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Dependence, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Dependence, Substance[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Disorder, Drug Use[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Disorder, Substance Use[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Disorders related to substance abuse, the side effects of a medication, or toxin exposure.
Disorders related to substance abuse, the side effects of a medication, or toxin exposure.[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Drug Abuse[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Drug Addiction[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Drug Habituation[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Drug Usage[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Drug Use Disorder[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Drug Use Disorders[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Habituation, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011]
ORGANIC MENTAL DIS SUBSTANCE INDUCED[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Organic Mental Disorders, Substance Induced
Organic Mental Disorders, Substance Induced[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Organic Mental Disorders, Substance-Induced
Organic Mental Disorders, Substance-Induced[accessedResource: MSH:D019966][accessDate: 05-04-2011]
SUBSTANCE RELATED DIS[accessedResource: MSH:D019966][accessDate: 05-04-2011]
SUBSTANCE USE DIS[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Substance Abuse[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Substance Abuses[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Substance Addiction[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Substance Dependence[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Substance Use Disorder[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Substance Use Disorders[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Substance-Related Disorders[accessedResource: MSH:D019966][accessDate: 05-04-2011]
Usage, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011]
BILIARY TRACT NEOPL[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Biliary Tract Cancer[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Biliary Tract Cancers[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Biliary Tract Neoplasms[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Cancer of Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Cancer of the Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Cancer, Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Cancers, Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011]
NEOPL BILIARY TRACT[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Neoplasm, Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Neoplasms, Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011]
Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.
Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.[accessedResource: MSH:D001661][accessDate: 05-04-2011]
FUNCTION TEST PULM[accessedResource: MSH:D012129][accessDate: 05-04-2011]
FUNCTION TESTS PULM[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Function Test, Lung[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Function Test, Pulmonary[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Function Test, Respiratory[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Function Tests, Lung[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Function Tests, Pulmonary[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Function Tests, Respiratory[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Lung Function Test[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Lung Function Tests[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.
Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.[accessedResource: MSH:D012129][accessDate: 05-04-2011]
PULM FUNCTION TESTS[accessedResource: MSH:D012129][accessDate: 05-04-2011]
PULM FUNCTION TEST[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Pulmonary Function Tests[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Respiratory Function Test[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Respiratory Function Tests[accessedResource: MSH:D012129][accessDate: 05-04-2011]
TEST PULM FUNCTION[accessedResource: MSH:D012129][accessDate: 05-04-2011]
TESTS PULM FUNCTION[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Test, Lung Function[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Test, Pulmonary Function[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Test, Respiratory Function[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Tests, Lung Function[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Tests, Pulmonary Function[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Tests, Respiratory Function[accessedResource: MSH:D012129][accessDate: 05-04-2011]
Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.
A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.[accessedResource: MSH:D000152][accessDate: 05-04-2011]
Acne Vulgaris[accessedResource: MSH:D000152][accessDate: 05-04-2011]
Bleeding from the nose.[accessedResource: MSH:D004844][accessDate: 05-04-2011]
Bleeding, Nasal[accessedResource: MSH:D004844][accessDate: 05-04-2011]
Bleedings, Nasal[accessedResource: MSH:D004844][accessDate: 05-04-2011]
Nasal Bleeding[accessedResource: MSH:D004844][accessDate: 05-04-2011]
Nasal Bleedings[accessedResource: MSH:D004844][accessDate: 05-04-2011]
Nose Bleed[accessedResource: MSH:D004844][accessDate: 05-04-2011]
Nose Bleeds[accessedResource: MSH:D004844][accessDate: 05-04-2011]
Nosebleed[accessedResource: MSH:D004844][accessDate: 05-04-2011]
Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.
Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.[accessedResource: MSH:D017379][accessDate: 05-04-2011]
Hypertrophies, Left Ventricular[accessedResource: MSH:D017379][accessDate: 05-04-2011]
Hypertrophy, Left Ventricular[accessedResource: MSH:D017379][accessDate: 05-04-2011]
Left Ventricular Hypertrophies[accessedResource: MSH:D017379][accessDate: 05-04-2011]
Ventricular Hypertrophies, Left[accessedResource: MSH:D017379][accessDate: 05-04-2011]
Ventricular Hypertrophy, Left[accessedResource: MSH:D017379][accessDate: 05-04-2011]
Cancer of Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Cancer of the Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Cancer, Gastric[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Cancer, Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Cancers, Gastric[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Cancers, Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011]
GASTRIC NEOPL[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Gastric Cancer[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Gastric Cancers[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Gastric Neoplasm[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Gastric Neoplasms[accessedResource: MSH:D013274][accessDate: 05-04-2011]
NEOPL GASTRIC[accessedResource: MSH:D013274][accessDate: 05-04-2011]
NEOPL STOMACH[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Neoplasm, Gastric[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Neoplasm, Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Neoplasms, Gastric[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Neoplasms, Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011]
STOMACH NEOPL[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Stomach Cancer[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Stomach Cancers[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Stomach Neoplasms[accessedResource: MSH:D013274][accessDate: 05-04-2011]
Tumors or cancer of the STOMACH.[accessedResource: MSH:D013274][accessDate: 05-04-2011]
A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.
A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Ankylosing Spondylarthritides[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Ankylosing Spondylarthritis[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Ankylosing Spondyloarthritides[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Ankylosing Spondyloarthritis[accessedResource: MSH:D013167][accessDate: 05-04-2011]
BECHTEREW DIS[accessedResource: MSH:D013167][accessDate: 05-04-2011]
BECHTEREWS DIS[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Bechterew Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Bechterew's Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Bechterews Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011]
MARIE STRUEMPELL DIS[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Marie Struempell Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Marie-Struempell Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Rheumatoid Spondylitis[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Spondylarthritides, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Spondylarthritis Ankylopoietica[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Spondylarthritis, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Spondylitis, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Spondylitis, Rheumatoid[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Spondyloarthritides, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Spondyloarthritis, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011]
Contractures[accessedResource: MSH:D003286][accessDate: 05-04-2011]
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.[accessedResource: MSH:D003286][accessDate: 05-04-2011]
CILIARY MOTILITY DIS[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Cilia Syndrome, Immotile[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Cilia Syndromes, Immotile[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Ciliary Dyskinesia[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Ciliary Dyskinesias[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Ciliary Motility Disorder[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Ciliary Motility Disorders[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Disorder, Ciliary Motility[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Disorders, Ciliary Motility[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Dyskinesia, Ciliary[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Dyskinesias, Ciliary[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Immotile Cilia Syndrome[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Immotile Cilia Syndromes[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Syndrome, Immotile Cilia[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Syndromes, Immotile Cilia[accessedResource: MSH:D002925][accessDate: 05-04-2011]
Painful URINATION. It is often associated with infections of the lower URINARY TRACT.
Painful URINATION. It is often associated with infections of the lower URINARY TRACT.[accessedResource: MSH:D053159][accessDate: 05-04-2011]
Broken bones in the vertebral column.[accessedResource: MSH:D016103][accessDate: 05-04-2011]
Fracture, Spinal[accessedResource: MSH:D016103][accessDate: 05-04-2011]
Fractures, Spinal[accessedResource: MSH:D016103][accessDate: 05-04-2011]
Spinal Fractures[accessedResource: MSH:D016103][accessDate: 05-04-2011]
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.[accessedResource: MSH:D014923][accessDate: 05-04-2011]
Aldrich Syndrome[accessedResource: MSH:D014923][accessDate: 05-04-2011]
Syndrome, Aldrich[accessedResource: MSH:D014923][accessDate: 05-04-2011]
Syndrome, Wiskott-Aldrich[accessedResource: MSH:D014923][accessDate: 05-04-2011]
Wiskott Aldrich Syndrome[accessedResource: MSH:D014923][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_144' instead. New Label : Wiskott-Aldrich syndrome
Phlebothromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Phlebothrombosis[accessedResource: MSH:D020246][accessDate: 05-04-2011]
The formation or presence of a blood clot (THROMBUS) within a vein.
The formation or presence of a blood clot (THROMBUS) within a vein.[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thromboses, Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thrombosis, Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Venous Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011]
A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material.
A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material.[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Cardiac Valve Prostheses[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Cardiac Valve Prosthesis[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Heart Valve Prostheses[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Heart Valve Prosthesis Implantation[accessedResource: MSH:D019918][accessDate: 05-04-2011]
Implantation, Heart Valve Prosthesis[accessedResource: MSH:D019918][accessDate: 05-04-2011]
Prostheses, Cardiac Valve[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Prostheses, Heart Valve[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Prosthesis, Cardiac Valve[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Prosthesis, Heart Valve[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Surgical insertion of synthetic material to repair injured or diseased heart valves.
Surgical insertion of synthetic material to repair injured or diseased heart valves.[accessedResource: MSH:D019918][accessDate: 05-04-2011]
Valve Prostheses, Cardiac[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Valve Prostheses, Heart[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Valve Prosthesis, Cardiac[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Valve Prosthesis, Heart[accessedResource: MSH:D006350][accessDate: 05-04-2011]
Deep Vein Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Deep Venous Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Deep Venous Thrombosis[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Deep-Vein Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Deep-Vein Thrombosis[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Deep-Venous Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Deep-Venous Thrombosis[accessedResource: MSH:D020246][accessDate: 05-04-2011]
The formation or presence of a blood clot (THROMBUS) within a deep vein in the lower extremity
Thromboses, Deep Vein[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thromboses, Deep Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thromboses, Deep-Vein[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thromboses, Deep-Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thrombosis, Deep Vein[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thrombosis, Deep Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thrombosis, Deep-Vein[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Thrombosis, Deep-Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Vein Thromboses, Deep[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Vein Thrombosis, Deep[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Venous Thromboses, Deep[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Venous Thrombosis, Deep[accessedResource: MSH:D020246][accessDate: 05-04-2011]
Ametropia[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Ametropias[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Disorder, Refractive[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Disorders, Refractive[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Error, Refractive[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Errors, Refractive[accessedResource: MSH:D012030][accessDate: 05-04-2011]
REFRACTIVE DIS[accessedResource: MSH:D012030][accessDate: 05-04-2011]
REFRACTIVE ERR[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Refractive Disorder[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Refractive Disorders[accessedResource: MSH:D012030][accessDate: 05-04-2011]
Refractive Errors[accessedResource: MSH:D012030][accessDate: 05-04-2011]
An impulse-conducting system composed of modified cardiac muscle, having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart.
An impulse-conducting system composed of modified cardiac muscle, having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart.[accessedResource: MSH:D006329][accessDate: 05-04-2011]
Conduction System, Heart[accessedResource: MSH:D006329][accessDate: 05-04-2011]
Conduction Systems, Heart[accessedResource: MSH:D006329][accessDate: 05-04-2011]
Heart Conduction Systems[accessedResource: MSH:D006329][accessDate: 05-04-2011]
System, Heart Conduction[accessedResource: MSH:D006329][accessDate: 05-04-2011]
Systems, Heart Conduction[accessedResource: MSH:D006329][accessDate: 05-04-2011]
Angiohemophilia[accessedResource: MSH:D014842][accessDate: 05-04-2011]
Angiohemophilias[accessedResource: MSH:D014842][accessDate: 05-04-2011]
Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.
Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.[accessedResource: MSH:D014842][accessDate: 05-04-2011]
Hemophilia, Vascular[accessedResource: MSH:D014842][accessDate: 05-04-2011]
VON WILLEBRAND DIS[accessedResource: MSH:D014842][accessDate: 05-04-2011]
VON WILLEBRANDS DIS[accessedResource: MSH:D014842][accessDate: 05-04-2011]
Vascular Hemophilia[accessedResource: MSH:D014842][accessDate: 05-04-2011]
Vascular Hemophilias[accessedResource: MSH:D014842][accessDate: 05-04-2011]
von Willebrand Disease, Recessive Form[accessedResource: MSH:D014842][accessDate: 05-04-2011]
von Willebrand Diseases[accessedResource: MSH:D014842][accessDate: 05-04-2011]
von Willebrand's Disease[accessedResource: MSH:D014842][accessDate: 05-04-2011]
von Willebrand's Diseases[accessedResource: MSH:D014842][accessDate: 05-04-2011]
von Willebrands Disease[accessedResource: MSH:D014842][accessDate: 05-04-2011]
von Willebrands Diseases[accessedResource: MSH:D014842][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_3497' instead. New Label : Von Willebrand disease
Atrial Flutters[accessedResource: MSH:D001282][accessDate: 05-04-2011]
Auricular Flutter[accessedResource: MSH:D001282][accessDate: 05-04-2011]
Auricular Flutters[accessedResource: MSH:D001282][accessDate: 05-04-2011]
Flutter, Atrial[accessedResource: MSH:D001282][accessDate: 05-04-2011]
Flutter, Auricular[accessedResource: MSH:D001282][accessDate: 05-04-2011]
Flutters, Atrial[accessedResource: MSH:D001282][accessDate: 05-04-2011]
Flutters, Auricular[accessedResource: MSH:D001282][accessDate: 05-04-2011]
Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES).
Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES).[accessedResource: MSH:D001282][accessDate: 05-04-2011]
An alternative to the ankle-brachial index.
An alternative to the ankle-brachial index.[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Ankle Brachial Indices[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Ankle-Brachial Index[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Ankle-Brachial Indices[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Brachial Index, Ankle[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Brachial Index, Toe[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Brachial Indices, Ankle[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Brachial Indices, Toe[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE.
Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE.[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Index, Ankle Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Index, Ankle-Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Index, Toe Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Index, Toe-Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Indices, Ankle Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Indices, Ankle-Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Indices, Toe Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Indices, Toe-Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Toe Brachial Index[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Toe Brachial Indices[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Toe-Brachial Index[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Toe-Brachial Indices[accessedResource: MSH:D055109][accessDate: 05-04-2011]
Angor Pectoris[accessedResource: MSH:D000787][accessDate: 05-04-2011]
Stenocardia[accessedResource: MSH:D000787][accessDate: 05-04-2011]
Stenocardias[accessedResource: MSH:D000787][accessDate: 05-04-2011]
The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION.
The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION.[accessedResource: MSH:D000787][accessDate: 05-04-2011]
A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.
A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.[accessedResource: MSH:D050197][accessDate: 05-04-2011]
Atherogenesis[accessedResource: MSH:D050197][accessDate: 05-04-2011]
Atheroscleroses[accessedResource: MSH:D050197][accessDate: 05-04-2011]
ABNORM CONGEN[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Abnormalities, Congenital[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Abnormality, Congenital[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Birth Defect[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Birth Defects[accessedResource: MSH:D000013][accessDate: 05-04-2011]
CONGEN ABNORM[accessedResource: MSH:D000013][accessDate: 05-04-2011]
CONGEN DEFECTS[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Congenital Abnormalities[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Congenital Defect[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Congenital Defects[accessedResource: MSH:D000013][accessDate: 05-04-2011]
DEFECTS CONGEN[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Defect, Birth[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Defect, Congenital[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Defects, Birth[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Defects, Congenital[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Deformities[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Deformity[accessedResource: MSH:D000013][accessDate: 05-04-2011]
Malformations of organs or body parts during development in utero.
Malformations of organs or body parts during development in utero.[accessedResource: MSH:D000013][accessDate: 05-04-2011]
The class was a mixed bag of disease which have now been moved to more appropriate parent classes. No direct substitute.
obsolete_cerebral arteriovenous malformation
AVM (Arteriovenous Malformation) Intracranial
AVM (Arteriovenous Malformation) Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Arteriovenous Malformation, Cerebral[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Arteriovenous Malformation, Intracranial
Arteriovenous Malformation, Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Arteriovenous Malformations, Cerebral[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Arteriovenous Malformations, Intracranial
Arteriovenous Malformations, Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011]
CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS
CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Cerebral Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Congenital Intracranial Arteriovenous Malformations
Congenital Intracranial Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.
Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.[accessedResource: MSH:D002538][accessDate: 05-04-2011]
INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN
INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN[accessedResource: MSH:D002538][accessDate: 05-04-2011]
INTRACRANIAL AVM[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Intracranial Arteriovenous Malformation, Ruptured
Intracranial Arteriovenous Malformation, Ruptured[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Intracranial Arteriovenous Malformation[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Intracranial Arteriovenous Malformations
Intracranial Arteriovenous Malformations, Congenital
Intracranial Arteriovenous Malformations, Congenital[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Intracranial Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Malformation, Cerebral Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Malformation, Intracranial Arteriovenous
Malformation, Intracranial Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Malformations, Cerebral Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Malformations, Intracranial Arteriovenous
Malformations, Intracranial Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011]
Ruptured Intracranial Arteriovenous Malformation
Ruptured Intracranial Arteriovenous Malformation[accessedResource: MSH:D002538][accessDate: 05-04-2011]
duplicate of class http://www.orphanet.org/rdfns#pat_id_2264
Birth, Premature[accessedResource: MSH:D047928][accessDate: 05-04-2011]
Birth, Preterm[accessedResource: MSH:D047928][accessDate: 05-04-2011]
Births, Premature[accessedResource: MSH:D047928][accessDate: 05-04-2011]
Births, Preterm[accessedResource: MSH:D047928][accessDate: 05-04-2011]
CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION).
CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION).[accessedResource: MSH:D047928][accessDate: 05-04-2011]
Premature Births[accessedResource: MSH:D047928][accessDate: 05-04-2011]
Preterm Birth[accessedResource: MSH:D047928][accessDate: 05-04-2011]
Preterm Births[accessedResource: MSH:D047928][accessDate: 05-04-2011]
A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)
A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Apnea, Obstructive Sleep[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Apneas, Obstructive Sleep[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Obstructive Sleep Apnea Syndrome[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Obstructive Sleep Apneas[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Sleep Apnea Syndrome, Obstructive[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Sleep Apnea, Obstructive[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Sleep Apneas, Obstructive[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Syndrome, Obstructive Sleep Apnea[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Syndrome, Sleep Apnea, Obstructive[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Syndrome, Upper Airway Resistance, Sleep Apnea
Syndrome, Upper Airway Resistance, Sleep Apnea[accessedResource: MSH:D020181][accessDate: 05-04-2011]
Upper Airway Resistance Sleep Apnea Syndrome
Upper Airway Resistance Sleep Apnea Syndrome[accessedResource: MSH:D020181][accessDate: 05-04-2011]
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.[accessedResource: MSH:D012307][accessDate: 05-04-2011]
Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury.
Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury.[accessedResource: NCIt:C17103][accessDate: 05-04-2011]
Factor, Risk[accessedResource: MSH:D012307][accessDate: 05-04-2011]
Factors, Risk[accessedResource: MSH:D012307][accessDate: 05-04-2011]
Risk Factors[accessedResource: MSH:D012307][accessDate: 05-04-2011]
Cleft Palates[accessedResource: MSH:D002972][accessDate: 05-04-2011]
Congenital fissure of the soft and/or hard palate, due to faulty fusion.
Congenital fissure of the soft and/or hard palate, due to faulty fusion.[accessedResource: MSH:D002972][accessDate: 05-04-2011]
Palate, Cleft[accessedResource: MSH:D002972][accessDate: 05-04-2011]
Palates, Cleft[accessedResource: MSH:D002972][accessDate: 05-04-2011]
Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).
Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).[accessedResource: MSH:D019449][accessDate: 05-04-2011]
Ileitis, Pouch[accessedResource: MSH:D019449][accessDate: 05-04-2011]
Pouch Ileitis[accessedResource: MSH:D019449][accessDate: 05-04-2011]
Change of Life, Female[accessedResource: MSH:D008593][accessDate: 05-04-2011]
The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age.
The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age.[accessedResource: MSH:D008593][accessDate: 05-04-2011]
Bone Densities[accessedResource: MSH:D015519][accessDate: 05-04-2011]
Bone Mineral Content[accessedResource: MSH:D015519][accessDate: 05-04-2011]
Bone Mineral Contents[accessedResource: MSH:D015519][accessDate: 05-04-2011]
Bone Mineral Densities[accessedResource: MSH:D015519][accessDate: 05-04-2011]
Bone Mineral Density[accessedResource: MSH:D015519][accessDate: 05-04-2011]
Density, Bone Mineral[accessedResource: MSH:D015519][accessDate: 05-04-2011]
Density, Bone[accessedResource: MSH:D015519][accessDate: 05-04-2011]
The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.
The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.[accessedResource: MSH:D015519][accessDate: 05-04-2011]
Color of hair or fur.[accessedResource: MSH:D006200][accessDate: 05-04-2011]
Color, Hair[accessedResource: MSH:D006200][accessDate: 05-04-2011]
Colors, Hair[accessedResource: MSH:D006200][accessDate: 05-04-2011]
Hair Colors[accessedResource: MSH:D006200][accessDate: 05-04-2011]
Intellectual or mental process whereby an organism becomes aware of or obtains knowledge.
Intellectual or mental process whereby an organism becomes aware of or obtains knowledge.[accessedResource: MSH:D003071][accessDate: 05-04-2011]
Aphasia Test[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Aphasia Tests[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Memory for Designs Test[accessedResource: MSH:D009483][accessDate: 05-04-2011]
NEUROPSYCHOL TESTS[accessedResource: MSH:D009483][accessDate: 05-04-2011]
NEUROPSYCHOL TEST[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Neuropsychologic Test[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Neuropsychologic Tests[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Neuropsychological Tests[accessedResource: MSH:D009483][accessDate: 05-04-2011]
TEST NEUROPSYCHOL[accessedResource: MSH:D009483][accessDate: 05-04-2011]
TESTS NEUROPSYCHOL[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Test, Aphasia[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Test, Neuropsychologic[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Test, Neuropsychological[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.
Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Tests, Aphasia[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Tests, Neuropsychologic[accessedResource: MSH:D009483][accessDate: 05-04-2011]
Tests, Neuropsychological[accessedResource: MSH:D009483][accessDate: 05-04-2011]
A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.
A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.[accessedResource: MSH:D009216][accessDate: 05-04-2011]
Myopias[accessedResource: MSH:D009216][accessDate: 05-04-2011]
Nearsightedness[accessedResource: MSH:D009216][accessDate: 05-04-2011]
Nearsightednesses[accessedResource: MSH:D009216][accessDate: 05-04-2011]
ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.
ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.[accessedResource: MSH:D020345][accessDate: 05-04-2011]
Enterocolitis, Necrotizing[accessedResource: MSH:D020345][accessDate: 05-04-2011]
Acute Relapsing Multiple Sclerosis[accessedResource: MSH:D020529][accessDate: 05-04-2011]
MS RELAPSING REMITTING[accessedResource: MSH:D020529][accessDate: 05-04-2011]
Multiple Sclerosis, Acute Relapsing[accessedResource: MSH:D020529][accessDate: 05-04-2011]
Multiple Sclerosis, Relapsing Remitting[accessedResource: MSH:D020529][accessDate: 05-04-2011]
Multiple Sclerosis, Relapsing-Remitting[accessedResource: MSH:D020529][accessDate: 05-04-2011]
Multiple Sclerosis, Remitting-Relapsing[accessedResource: MSH:D020529][accessDate: 05-04-2011]
Relapsing Remitting Multiple Sclerosis[accessedResource: MSH:D020529][accessDate: 05-04-2011]
Remitting Relapsing Multiple Sclerosis[accessedResource: MSH:D020529][accessDate: 05-04-2011]
Remitting-Relapsing Multiple Sclerosis[accessedResource: MSH:D020529][accessDate: 05-04-2011]
The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)
The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)[accessedResource: MSH:D020529][accessDate: 05-04-2011]
The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION.
The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION.[accessedResource: MSH:D008572][accessDate: 05-04-2011]
Bone Fractures[accessedResource: MSH:D050723][accessDate: 05-04-2011]
Bone, Broken[accessedResource: MSH:D050723][accessDate: 05-04-2011]
Bones, Broken[accessedResource: MSH:D050723][accessDate: 05-04-2011]
Breaks in bones.[accessedResource: MSH:D050723][accessDate: 05-04-2011]
Broken Bone[accessedResource: MSH:D050723][accessDate: 05-04-2011]
Broken Bones[accessedResource: MSH:D050723][accessDate: 05-04-2011]
Fracture, Bone[accessedResource: MSH:D050723][accessDate: 05-04-2011]
Fractures, Bone[accessedResource: MSH:D050723][accessDate: 05-04-2011]
BACT VAGINITIDES[accessedResource: MSH:D016585][accessDate: 05-04-2011]
BACT VAGINITIS[accessedResource: MSH:D016585][accessDate: 05-04-2011]
BACT VAGINOSES[accessedResource: MSH:D016585][accessDate: 05-04-2011]
BACT VAGINOSIS[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Bacterial Vaginitides[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Bacterial Vaginitis[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Bacterial Vaginoses[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Nonspecific Vaginitis[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli.
Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli.[accessedResource: MSH:D016585][accessDate: 05-04-2011]
VAGINITIDES BACT[accessedResource: MSH:D016585][accessDate: 05-04-2011]
VAGINITIS BACT[accessedResource: MSH:D016585][accessDate: 05-04-2011]
VAGINOSES BACT[accessedResource: MSH:D016585][accessDate: 05-04-2011]
VAGINOSIS BACT[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Vaginitides, Bacterial[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Vaginitis, Bacterial[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Vaginitis, Nonspecific[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Vaginoses, Bacterial[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Vaginosis, Bacterial[accessedResource: MSH:D016585][accessDate: 05-04-2011]
Bicuspid Valve[accessedResource: MSH:D008943][accessDate: 05-04-2011]
Bicuspid Valves[accessedResource: MSH:D008943][accessDate: 05-04-2011]
Mitral Valves[accessedResource: MSH:D008943][accessDate: 05-04-2011]
The valve between the left atrium and left ventricle of the heart.
The valve between the left atrium and left ventricle of the heart.[accessedResource: MSH:D008943][accessDate: 05-04-2011]
Valve, Bicuspid[accessedResource: MSH:D008943][accessDate: 05-04-2011]
Valve, Mitral[accessedResource: MSH:D008943][accessDate: 05-04-2011]
Valves, Bicuspid[accessedResource: MSH:D008943][accessDate: 05-04-2011]
Valves, Mitral[accessedResource: MSH:D008943][accessDate: 05-04-2011]
Use http://purl.obolibrary.org/obo/UBERON_0002135 label: mitral valve
Inflammation of the liver related to lipid accumulation in fatty liver.
Inflammation of the liver related to lipid accumulation in fatty liver.[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.
Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Liver Steatoses[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Liver Steatosis[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Liver, Fatty[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Steatohepatitides[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Steatohepatitis[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Steatoses, Liver[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Steatosis of Liver[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Steatosis, Liver[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Visceral Steatosis[accessedResource: MSH:D005234][accessDate: 05-04-2011]
Health, Mental[accessedResource: MSH:D008603][accessDate: 05-04-2011]
Hygiene, Mental[accessedResource: MSH:D008603][accessDate: 05-04-2011]
Mental Hygiene[accessedResource: MSH:D008603][accessDate: 05-04-2011]
The state wherein the person is well adjusted.
The state wherein the person is well adjusted.[accessedResource: MSH:D008603][accessDate: 05-04-2011]
Replaced by an import from GO, biological process in GO is an exact synonym for physiological process
Adapted from MESH (excluded functions from this definition which is about processes only)
A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)
A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Aphthae[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Aphthous Stomatitides[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Aphthous Stomatitis[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Aphthous Ulcers[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Canker Sore[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Canker Sores[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Periadenitis Mucosa Necrotica Recurrens[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Sore, Canker[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Sores, Canker[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Stomatitides, Aphthous[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Stomatitis, Aphthous[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Ulcer, Aphthous[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Ulcers, Aphthous[accessedResource: MSH:D013281][accessDate: 05-04-2011]
Caloric Intake[accessedResource: MSH:D002149][accessDate: 05-04-2011]
Total number of calories taken in daily whether ingested or by parenteral routes.
Total number of calories taken in daily whether ingested or by parenteral routes.[accessedResource: MSH:D002149][accessDate: 05-04-2011]
Activities, Locomotor[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Activities, Motor[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Activities, Physical[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Activity, Locomotor[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Activity, Motor[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Activity, Physical[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Locomotor Activities[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Locomotor Activity[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Motor Activities[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Motor Activity[accessedResource: MSH:D009043][accessDate: 05-04-2011]
Physical Activities[accessedResource: MSH:D009043][accessDate: 05-04-2011]
The physical activity of a human or an animal as a behavioral phenomenon.
The physical activity of a human or an animal as a behavioral phenomenon.[accessedResource: MSH:D009043][accessDate: 05-04-2011]
A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications.
A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications.[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Binding Globulin, Testosterone-Estradiol
Binding Globulin, Testosterone-Estradiol[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Globulin, Sex Hormone-Binding[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Globulin, Testosterone-Estradiol Binding
Globulin, Testosterone-Estradiol Binding[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Hormone-Binding Globulin, Sex[accessedResource: MSH:D012738][accessDate: 05-04-2011]
SHBG[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Sex Hormone Binding Globulin[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Sex Steroid Binding Protein[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Sex Steroid-Binding Protein[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Steroid-Binding Protein, Sex[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Testosterone Estradiol Binding Globulin[accessedResource: MSH:D012738][accessDate: 05-04-2011]
Testosterone-Estradiol Binding Globulin[accessedResource: MSH:D012738][accessDate: 05-04-2011]
HETEROL TRANSPL[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Heterograft[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Heterografts[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Heterologous Transplantations[accessedResource: MSH:D014183][accessDate: 05-04-2011]
TRANSPL HETEROL[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Transplantation between animals of different species.
Transplantation between animals of different species.[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Transplantation, Heterologous[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Transplantations, Heterologous[accessedResource: MSH:D014183][accessDate: 05-04-2011]
XENOTRANSPL[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Xenograft[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Xenografts[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Xenotransplantation[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Xenotransplantations[accessedResource: MSH:D014183][accessDate: 05-04-2011]
Fracture, Humeral[accessedResource: MSH:D006810][accessDate: 05-04-2011]
Fractures, Humeral[accessedResource: MSH:D006810][accessDate: 05-04-2011]
Humeral Fracture[accessedResource: MSH:D006810][accessDate: 05-04-2011]
Humeral Fractures[accessedResource: MSH:D006810][accessDate: 05-04-2011]
Fracture, Tibial[accessedResource: MSH:D013978][accessDate: 05-04-2011]
Fractures, Tibial[accessedResource: MSH:D013978][accessDate: 05-04-2011]
Tibial Fracture[accessedResource: MSH:D013978][accessDate: 05-04-2011]
Tibial Fractures[accessedResource: MSH:D013978][accessDate: 05-04-2011]
Excessive uterine bleeding during MENSTRUATION.
Excessive uterine bleeding during MENSTRUATION.[accessedResource: MSH:D008595][accessDate: 05-04-2011]
Hypermenorrhea[accessedResource: MSH:D008595][accessDate: 05-04-2011]
Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain.
Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain.[accessedResource: MSH:D005642][accessDate: 05-04-2011]
Dystrophy, Fuch's Endothelial[accessedResource: MSH:D005642][accessDate: 05-04-2011]
Dystrophy, Fuchs' Endothelial[accessedResource: MSH:D005642][accessDate: 05-04-2011]
Endothelial Dystrophy, Fuch's[accessedResource: MSH:D005642][accessDate: 05-04-2011]
Endothelial Dystrophy, Fuchs'[accessedResource: MSH:D005642][accessDate: 05-04-2011]
Fuch Endothelial Dystrophy[accessedResource: MSH:D005642][accessDate: 05-04-2011]
Fuch's Endothelial Dystrophy[accessedResource: MSH:D005642][accessDate: 05-04-2011]
Fuchs Endothelial Dystrophy[accessedResource: MSH:D005642][accessDate: 05-04-2011]
Behavior-response patterns that characterize the individual.
Behavior-response patterns that characterize the individual.[accessedResource: MSH:D010551][accessDate: 05-04-2011]
Personalities[accessedResource: MSH:D010551][accessDate: 05-04-2011]
Esophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011]
GASTROESOPHAGEAL REFLUX DIS[accessedResource: MSH:D005764][accessDate: 05-04-2011]
GERD[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Gastro Esophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Gastro oesophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Gastro-Esophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Gastro-oesophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Gastroesophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Reflux, Gastro-Esophageal[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Reflux, Gastro-oesophageal[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Reflux, Gastroesophageal[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.
Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.[accessedResource: MSH:D005764][accessDate: 05-04-2011]
Color of the iris.[accessedResource: MSH:D005127][accessDate: 05-04-2011]
Color, Eye[accessedResource: MSH:D005127][accessDate: 05-04-2011]
Colors, Eye[accessedResource: MSH:D005127][accessDate: 05-04-2011]
Eye Colors[accessedResource: MSH:D005127][accessDate: 05-04-2011]
Fracture, Ulna[accessedResource: MSH:D014458][accessDate: 05-04-2011]
Fractures of the larger bone of the forearm.
Fractures of the larger bone of the forearm.[accessedResource: MSH:D014458][accessDate: 05-04-2011]
Fractures, Ulna[accessedResource: MSH:D014458][accessDate: 05-04-2011]
Ulna Fractures[accessedResource: MSH:D014458][accessDate: 05-04-2011]
percutaneous transluminal coronary angioplasty
Angioplasties, Coronary Balloon[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Angioplasty, Balloon, Coronary[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Angioplasty, Coronary Balloon[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Angioplasty, Transluminal, Percutaneous Coronary
Angioplasty, Transluminal, Percutaneous Coronary[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Balloon Angioplasties, Coronary[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Balloon Angioplasty, Coronary[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Balloon Dilation, Coronary Artery[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Coronary Angioplasty, Transluminal Balloon
Coronary Angioplasty, Transluminal Balloon[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Coronary Balloon Angioplasties[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Coronary Balloon Angioplasty[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply.
Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply.[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Transluminal Coronary Balloon Dilation[accessedResource: MSH:D015906][accessDate: 05-04-2011]
Fever in which the etiology cannot be ascertained.
Fever in which the etiology cannot be ascertained.[accessedResource: MSH:D005335][accessDate: 05-04-2011]
Unknown Origin Fever[accessedResource: MSH:D005335][accessDate: 05-04-2011]
Unknown Origin Fevers[accessedResource: MSH:D005335][accessDate: 05-04-2011]
Circumcision, Male[accessedResource: MSH:D002944][accessDate: 05-04-2011]
Circumcisions, Male[accessedResource: MSH:D002944][accessDate: 05-04-2011]
Excision of the prepuce of the penis (FORESKIN) or part of it.
Excision of the prepuce of the penis (FORESKIN) or part of it.[accessedResource: MSH:D002944][accessDate: 05-04-2011]
Male Circumcision[accessedResource: MSH:D002944][accessDate: 05-04-2011]
Male Circumcisions[accessedResource: MSH:D002944][accessDate: 05-04-2011]
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)[accessedResource: MSH:D008342][accessDate: 05-04-2011]
Collins Syndrome, Treacher[accessedResource: MSH:D008342][accessDate: 05-04-2011]
Dysostoses, Mandibulofacial[accessedResource: MSH:D008342][accessDate: 05-04-2011]
Dysostosis, Mandibulofacial[accessedResource: MSH:D008342][accessDate: 05-04-2011]
Mandibulofacial Dysostoses[accessedResource: MSH:D008342][accessDate: 05-04-2011]
Mandibulofacial Dysostosis[accessedResource: MSH:D008342][accessDate: 05-04-2011]
Syndrome, Treacher Collins[accessedResource: MSH:D008342][accessDate: 05-04-2011]
Treacher Collins Syndrome[accessedResource: MSH:D008342][accessDate: 05-04-2011]
use 'http://www.orphanet.org/rdfns#pat_id_293' instead. New Label : Treacher-Collins syndrome
BACT SEX TRANSM DIS[accessedResource: MSH:D015231][accessDate: 05-04-2011]
BACT VENEREAL DIS[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Bacterial Sexually Transmitted Diseases[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Bacterial Venereal Disease[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Bacterial Venereal Diseases[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Bacterial diseases transmitted or propagated by sexual conduct.
Bacterial diseases transmitted or propagated by sexual conduct.[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Disease, Bacterial Venereal[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Diseases, Bacterial Venereal[accessedResource: MSH:D015231][accessDate: 05-04-2011]
SEX TRANSM DIS BACT[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Sexually Transmitted Disease, Bacterial[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Sexually Transmitted Diseases, Bacterial
Sexually Transmitted Diseases, Bacterial[accessedResource: MSH:D015231][accessDate: 05-04-2011]
VENEREAL DIS BACT[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Venereal Disease, Bacterial[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Venereal Diseases, Bacterial[accessedResource: MSH:D015231][accessDate: 05-04-2011]
Allergic Rhinitides, Seasonal[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Allergic Rhinitis, Seasonal[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS.
Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS.[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Allergies, Pollen[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Allergy, Pollen[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Fever, Hay[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Hay Fever[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Hayfever[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Pollen Allergies[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Pollen Allergy[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Pollinoses[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Pollinosis[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Rhinitides, Seasonal Allergic[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Rhinitis, Allergic, Seasonal[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Rhinitis, Seasonal Allergic[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Seasonal Allergic Rhinitides[accessedResource: MSH:D006255][accessDate: 05-04-2011]
Fracture, Radius[accessedResource: MSH:D011885][accessDate: 05-04-2011]
Fractures, Radius[accessedResource: MSH:D011885][accessDate: 05-04-2011]
Radius Fractures[accessedResource: MSH:D011885][accessDate: 05-04-2011]
An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.
An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.[accessedResource: MSH:D013471][accessDate: 05-04-2011]
Sunburns[accessedResource: MSH:D013471][accessDate: 05-04-2011]
Cleft Lips[accessedResource: MSH:D002971][accessDate: 05-04-2011]
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.[accessedResource: MSH:D002971][accessDate: 05-04-2011]
Harelip[accessedResource: MSH:D002971][accessDate: 05-04-2011]
Harelips[accessedResource: MSH:D002971][accessDate: 05-04-2011]
Lip, Cleft[accessedResource: MSH:D002971][accessDate: 05-04-2011]
Lips, Cleft[accessedResource: MSH:D002971][accessDate: 05-04-2011]
A computed tomography scan (CT scan) is the output of an imaging technology which produces a 3D iimage of the subject.
HORMONE REPLACE THER[accessedResource: MSH:D020249][accessDate: 05-04-2011]
Hormone Replacement Therapies[accessedResource: MSH:D020249][accessDate: 05-04-2011]
Hormone Replacement Therapy[accessedResource: MSH:D020249][accessDate: 05-04-2011]
REPLACE THER HORMONE[accessedResource: MSH:D020249][accessDate: 05-04-2011]
Replacement Therapies, Hormone[accessedResource: MSH:D020249][accessDate: 05-04-2011]
Replacement Therapy, Hormone[accessedResource: MSH:D020249][accessDate: 05-04-2011]
THER HORMONE REPLACE[accessedResource: MSH:D020249][accessDate: 05-04-2011]
Therapeutic use of hormones to alleviate the effects of hormone deficiency.
Therapeutic use of hormones to alleviate the effects of hormone deficiency.[accessedResource: MSH:D020249][accessDate: 05-04-2011]
Therapies, Hormone Replacement[accessedResource: MSH:D020249][accessDate: 05-04-2011]
Therapy, Hormone Replacement[accessedResource: MSH:D020249][accessDate: 05-04-2011]
DOPPLER ECHOCARDIOGR PULSED[accessedResource: MSH:D018619][accessDate: 05-04-2011]
DOPPLER PULSED ECHOCARDIOGR[accessedResource: MSH:D018619][accessDate: 05-04-2011]
Doppler Echocardiography, Pulsed[accessedResource: MSH:D018619][accessDate: 05-04-2011]
Doppler Pulsed Echocardiography[accessedResource: MSH:D018619][accessDate: 05-04-2011]
ECHOCARDIOGR DOPPLER PULSED[accessedResource: MSH:D018619][accessDate: 05-04-2011]
ECHOCARDIOGR PULSED DOPPLER[accessedResource: MSH:D018619][accessDate: 05-04-2011]
Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return.
Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return.[accessedResource: MSH:D018619][accessDate: 05-04-2011]
Echocardiography, Doppler Pulsed[accessedResource: MSH:D018619][accessDate: 05-04-2011]
Echocardiography, Doppler, Pulsed[accessedResource: MSH:D018619][accessDate: 05-04-2011]
Echocardiography, Pulsed Doppler[accessedResource: MSH:D018619][accessDate: 05-04-2011]
PULSED DOPPLER ECHOCARDIOGR[accessedResource: MSH:D018619][accessDate: 05-04-2011]
PULSED ECHOCARDIOGR DOPPLER[accessedResource: MSH:D018619][accessDate: 05-04-2011]
Pulsed Echocardiography, Doppler[accessedResource: MSH:D018619][accessDate: 05-04-2011]
Chloasma[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Chloasmas[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.
Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Freckle[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Melanism[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Melanoses[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Melanosis[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Melasma[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Melasmas[accessedResource: MSH:D008548][accessDate: 05-04-2011]
Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES).
Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES).[accessedResource: MSH:D006620][accessDate: 05-04-2011]
Fractures, Hip[accessedResource: MSH:D006620][accessDate: 05-04-2011]
Fractures, Intertrochanteric[accessedResource: MSH:D006620][accessDate: 05-04-2011]
Fractures, Subtrochanteric[accessedResource: MSH:D006620][accessDate: 05-04-2011]
Fractures, Trochanteric[accessedResource: MSH:D006620][accessDate: 05-04-2011]
Hip Fractures[accessedResource: MSH:D006620][accessDate: 05-04-2011]
Intertrochanteric Fractures[accessedResource: MSH:D006620][accessDate: 05-04-2011]
Subtrochanteric Fractures[accessedResource: MSH:D006620][accessDate: 05-04-2011]
Trochanteric Fractures[accessedResource: MSH:D006620][accessDate: 05-04-2011]
An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age.
An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age.[accessedResource: MSH:D019102][accessDate: 05-04-2011]
INFANT VLBW[accessedResource: MSH:D019102][accessDate: 05-04-2011]
Infant, Very Low Birth Weight[accessedResource: MSH:D019102][accessDate: 05-04-2011]
Infant, Very-Low-Birth-Weight[accessedResource: MSH:D019102][accessDate: 05-04-2011]
Infants, Very-Low-Birth-Weight[accessedResource: MSH:D019102][accessDate: 05-04-2011]
VLBW INFANT[accessedResource: MSH:D019102][accessDate: 05-04-2011]
Very Low Birth Weight Infant[accessedResource: MSH:D019102][accessDate: 05-04-2011]
Very Low Birth Weight[accessedResource: MSH:D019102][accessDate: 05-04-2011]
Very-Low-Birth-Weight Infant[accessedResource: MSH:D019102][accessDate: 05-04-2011]
Very-Low-Birth-Weight Infants[accessedResource: MSH:D019102][accessDate: 05-04-2011]
A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries.
A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.
A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome.
A mouse embryonic stem cell hybrid cell line
A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain
A mouse strain type whereby the strain is propagated by random mating within the stock. No genes are introduced from outside the stock from generation to generation.
A coisogentic strain is a strain that differs from its progenitor inbred strain at only one locus. A coisogenic strain arises when a mutation occurs in an inbred strain.
A congenic strain is an inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed.
An inbred strain that contains a single entire chromosome from another strain. Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. For example, C57BL/6J-Chr 4A/NaJ is a consomic strain in which the Chromosome 4 from the A/J strain has been placed on a C57BL/6J background.
An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation.
Strains formed by crossing two inbred strains, followed by a few backcrosses to one of the parental strains, with subsequent inbreeding without selection.
An Inbred strain created by crossing two different inbred strains, followed by brother x sister matings for at least 20 generations. A panel of recombinant inbred strains derived from a cross between the same original parental strains can be used to establish linkage between any marker that is polymorphic between the parental strains and other polymorphic markers that have been typed in each strain in the panel.
An inbred strain that is kept in forced heterozygosity for one or more loci. For example, the SM/J strain segregates for an agouti allele and animals are either Aw/a (white bellied agouti) or a/a (black) in color.
Strains formed by brother x sister matings or other inbreeding schemes from mice originally caught in the wild.
major histocompatibility congenic strain
A congenic strain in which the donor allele transferred to the host strain background is a major histocompatibility gene.
A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes
A genetic modification in which some nucleic acid is deleted from the genome of an individual
A genetic modification in which part of the genome is duplicated
A genetic modification in which some portion of the genome is removed and inserted at 180 degrees to the original orientation.
A genetic modification which has arisn by a spontaneous mutation in an individual
A genetic modification in which a targeted mutation has been introduced into the genome of an individual
A genetic modification in which a transgene has been inserted into an individual
A genetic modification introduced into an individual as the result of transposase activity
A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation).
A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also
A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired
C. elegans Daf-d, weak heterochronic phenotypes in seam, somatic gonad, intestine. Class III allele.
C. elegans Daf-c, gonadal Mig, weak heterochronic phenotypes in intestine and seam. Class VI allele.
C. elegans daf-c. Gonald Mig. Weak heterochronic phenotypes in intestine. Class VI allele.
C. elegans wild isolate var Bristol. Generation time is about 3 days. Brood size is about 350. Also CGC reference 257. Isolated from mushroom compost near Bristol, England by L.N. Staniland. Cultured by W.L. Nicholas, identified to genus by Gunther Osche and species by Victor Nigon; subsequently cultured by C.E. Dougherty. Given to Sydney Brenner ca. 1966. Subcultured by Don Riddle in 1973. Caenorhabditis elegans wild isolate. DR subclone of CB original (Tc1 pattern I).
Ballard JW. Comparative genomics of mitochondrial DNA in Drosophila simulans. J Mol Evol. 2000 Jul;51(1):64-75. PubMed PMID: 10903373 doi:10.1007/s002390010067
Drosophila simulans isofemale line; siI haplotype; originally collected from Honolulu, Hawaii in 1998
A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted.
Crosophila simulans isofemale line; siI haplotype; originally collected from Noumea, New Caledonia in 1991
Drosophila simulans isofemale line, siII haplotype; originally collected from Ansirabe, Madagascar in 1998
Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering
Strain of C. elegans described as small, recessive, abnormal bursae, males abnormal with M-MATING-NO SUCCESS.
C. elegans strain described as "Small Dpy"
Strain of C. elegans described as "Semi-dominant Dpy. Mapping marker standard. M-MATING++ 1-10%WT."
C. elegans strain described with phenotypes "Long. Abnormal bursae. Epistatic to Small. Recessive. M-MATING-NO SUCCESS."
Strain of C. elegans described with phenotypes "Small. Recessive. Males abnormal-abnormal spicules. M-MATING-NO SUCCESS."
Strain of C. elegans described as "Long. Mapping marker standard. M-MATING++++ >30%WT."
C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant.
C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, carbon dioxide response variant, bordering.
C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering.
C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, bordering.
C. elegans strain with phenotypes; social feeding increased, cryophilic, pathogen susceptibility increased (Esp), biofilm absent head (Bah), carbon dioxide response variant, pathogen load variant
C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant, bordering.
C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant.
C. elegans strian. Additional remarks include "Homozygous rrf-3 deletion allele. Increased sensitivity to RNAi when compared to WT animals. Deletion sequence (deletion in lower case letters, flanking undeleted sequence in capital letters): TGCACATATTctacagaatt ------- --------tacccgattaAATGGACAATT (from Plasterk Lab 11/05)."
Strain of C. briggsae described with phenotypes; biofilm absent head (Bah), carbon dioxide response variant, mate finding defective
Strain of C. briggsae defined as having biofilm absent head (Bah).
Strain of C. remanei described as having biofilm absent head (Bah).
Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago.
Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya.
Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418.
Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen.
Strain of C. elegans, remarked as a "twitcher".
Strain of C. elegans, remarked as uncoordinated and may contain a weak daf-2 mutation (sa875).
Strain of C. elegans, remarked as Coiler Unc, severe, recessive.
Strain of C. elegans, remarked as growth slow, Unc and small, revertible.
Strain of C. elegans Levamisole resistant, recessive, Kinky Unc.
Strain of C. elegans, remarked as temperature sensitive dauer constitutive, maintan at 15C, 100% dauers at 25C. 15% dauer formation at 20C. Long-lived.
C. elegans strain remarked as defective dauer formation. Hermaphrodites accumulate oocytes. Males mate poorly.
Strain of C. elegans, described as Dauer defective-leaky. Somewhat small. Suppresses daf-2.
C. elegans, described as temperature sensitive dauer constitutive. 100% dauers at 25C. Dauer recovery poor at 15C. Maternal effect. Egg retainer.
C. elegans strain, described as temperature sensitive, leaky at 25C. Dauers recover poorly at 15C. Dauers escape plates. Recessive. Chemotaxis defective (Na+)
C. elegans strain, described as temperature-sensitive dauer-consitutive, long-lived, intrinsically thermotolerant. Adults slightly shorter than adults of other daf-2 alleles. Up to 6% of L1s arrest at 25.5C. Makes nearly 100% dauers at 25C, 0% dauers at 15C. Good recovery of dauers at 15C.
Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt).
C. elegans strain, described as deficiency completely eliminates daf-16 coding region. Makes partial dauers on pheromone.
C. elegans strain described as Daf-c at 27C. Weakly Egl and Clumpy.
C. elegans strain. Remarks include: the embryos from homozygous mutant mothers display defects in the unequal cell divisions of P2 and P3, defects in partitioning of germ granules during these divisions, and defects in formation of the germ-line precursor cell P4. The embryos that lack P4 develop into sterile adults. These defects are incompletely expressed and sensitive to temperature. Homozygous mothers produce about 10% sterile progeny at 16C and 70% sterile progeny at 25C. The temperature sensitive period is early in embryogenesis, from fertilization to about the 28-cell stage.
C. elegans strain, described as having slow development and behavior.
C. elegans strain, described as Methylviologen (paraquat) sensitive, oxygen sensitive and having a short life span.
C. elegans strain, described as Superficially wild type. This strain was provided by the C. elegans Reverse Genetics Core Facility at UBC, which is part of the International C. elegans Gene Knockout Consortium
An image prodcued as the result of a scan, such as a medical scanner or array scanner.
A file stored for use on a computer containing data.
A data file containing array data which has been processed in some way using a data transformation.
An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification.
A data file which contains data produced as the result of running an array.
AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method.
An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses.
Type of factor that can be used in the Atlas database
Sequencing library strategy permitted in Atlas
Sequencing library source permitted in Atlas
Sequencing library selection permitted in Atlas
Sequencing instrument model included in Atlas
query class, this will be replaced by dynamic query in software that uses it
Flag to mark any term permitted in Atlas
Flag for Atlas sequencing library strategies
Flag for Atlas sequencing library sources
Flag for Atlas sequencing library selections
Flag for Atlas sequencing instrument models
Experiment type permitted specifically in ArrayExpress
use 'http://www.orphanet.org/rdfns#pat_id_148' instead. New Label : Achondroplasia
use 'http://www.orphanet.org/rdfns#pat_id_182' instead. New Label : Neurofibromatosis type 2
A synostosis that results in craniosynostosis and syndactyly.
growth hormone-secreting pituitary adenoma
The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves.
Diamond–Blackfan anemia (DBA), is a congenital erythroid aplasia that usually presents in infancy and results in low red blood cell counts (anemia).
use 'http://www.orphanet.org/rdfns#pat_id_90' instead. New Label : Angelman syndrome
use 'http://www.orphanet.org/rdfns#pat_id_6018' instead. New Label : Aniridia
duplicate of class http://www.orphanet.org/rdfns#pat_id_13774
Machado–Joseph disease (MJD) is a rare autosomal, dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities
use 'http://www.orphanet.org/rdfns#pat_id_207' instead. New Label : Gorlin syndrome
Basal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a higher risk of skin cancers.
A rare skin disease which involves the clumping of keratin filaments and initally presents as a fragile layer of skin which blisters on touch ofen followed by scaling of the skin.
use 'http://www.orphanet.org/rdfns#pat_id_2079' instead. New Label : Epidermolytic ichthyosis
bullous congenital ichthyosiform erythroderma
derived from wikipedia http://en.wikipedia.org/wiki/Bundle_branch_block
A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles
use 'http://www.orphanet.org/rdfns#pat_id_431' instead. New Label : Caffey disease
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability.
use 'http://www.orphanet.org/rdfns#pat_id_933' instead. New Label : Campomelic dysplasia
An osteochondrodysplasia that is caused by a mutation in chromosome 17 which results in bowing in the tibia or femur.
Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, and abdomen, it constitutes the trunk proper. Perineum includes the anal and urinary genital region.
Use http://purl.obolibrary.org/obo/UBERON_0002356 label: perineum
uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix.
Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel.
web: http://en.wikipedia.org/wiki/Carpal_tunnel_syndrome
Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene.
duplicate of class http://www.orphanet.org/rdfns#pat_id_65
Central core myopathy, is an autosomal dominant congenital myopathy (inborn muscle disorder) which presents commonly with hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation.
derived from wikipedia http://en.wikipedia.org/wiki/Central_core_disease
A genetic disorder that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
use 'http://www.orphanet.org/rdfns#pat_id_588' instead. New Label : Sotos syndrome
use 'http://www.orphanet.org/rdfns#pat_id_637' instead. New Label : Charcot-Marie-Tooth disease
A nervous system disease that is located in the nervous system.
use 'http://www.orphanet.org/rdfns#pat_id_996' instead. New Label : Cherubism
use 'http://www.orphanet.org/rdfns#pat_id_253' instead. New Label : Alagille syndrome
Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next.
use 'http://www.orphanet.org/rdfns#pat_id_443' instead. New Label : Cleidocranial dysplasia
An osteochondrodysplasia that is caused by mutations in the RUNX2 gene which results in underveloped or absent clavicle along with delayed closing of fontanels in the skull.
Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology.
FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores.
Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing.
BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format
random RNA-Seq across whole transcriptome
RNA-SEQ (Random sequencing of whole transcriptome)
WCS (Random sequencing of a whole chromosome or other replicon isolated from a genome)
FINISHING (Sequencing intended to finish (close) gaps in existing coverage)
A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage
RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers.
hypomethylated partial restriction digest
Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome
A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample
cot filtration for single or low copy genomic DNA
CF-S (Cot-filtered single/low-copy genomic DNA)
A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other.
cot filtration for moderately repetitive genomic DNA
CF-M (Cot-filtered moderately repetitive genomic DNA)
A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other.
cot filtration for highly repetitive genomic DNA
CF-H (Cot-filtered highly repetitive genomic DNA)
cot filtration for theoretical single copy genomic DNA
CF-T (Cot-filtered theoretical single-copy genomic DNA)
Methylation Spanning Linker Library (MSLL) processing
MSLL (Methylation Spanning Linker Library)
Yuan et al (2002) Methylation-Spanning Linker Libraries Link Gene-Rich Regions and Identify Epigenetic Boundaries in Zea mays. Genome Res. 2002. 12: 1345-1349
Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions.
Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells.
MNase (Micrococcal Nuclease (MNase) digestion)
Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA.
An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling.
A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction.
DNA selection through 5-methylcytidine antibody
An experimental process for selecting DNA which uses 5-methylcytidine antibody.
Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5′ ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP).
Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced.
Size fractionation is a process of selecting targets based on their size.
size fractionation (Physical selection of size appropriate targets)
nucleic acid library construction protocol
A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library.
The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular. Methylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers. To evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 1765–1774).
DNAse (Deoxyribonuclease (MNase) digestion)
Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA.
cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase.
The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution.
DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range. For instance, physical shearing can be done by probe sonication and nebulization.
Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.
A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed).
A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471).
A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease.
Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D).
INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.
Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)
The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences.
Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS.
A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached.
A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
Use familial hypospadias instead http://www.orphanet.org/rdfns#pat_id_3299
Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.
A condition of elevated levels of TRIGLYCERIDES in the blood.
A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues.
Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.
An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm.
An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994).
A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994).
Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE.
use 'http://www.orphanet.org/rdfns#pat_id_8781' instead. New Label : Biliary atresia
The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning.
A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes.
INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.
The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES.
Use http://purl.obolibrary.org/obo/UBERON_0001691 label: external ear
Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed).
A noninflammatory, usually bilateral protrusion of the cornea, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. The cause is unknown but hereditary factors may play a role. The -conus refers to the cone shape of the corneal protrusion. (From Dorland, 27th ed).
use 'http://www.orphanet.org/rdfns#pat_id_17093' instead. New Label : Keratoconus
Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.
Spasm of the large- or medium-sized coronary arteries.
A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)).
A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome.
A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.
A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50.
Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells.
The continuation of the axillary artery; it branches into the radial and ulnar arteries.
Use: http://purl.obolibrary.org/obo/UBERON_0001398 label: brachial artery
Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens.
The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction.
The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)
A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE.
A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy).
A general term for the complete or partial loss of the ability to hear from one or both ears.
INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.
Strong dependence, both physiological and emotional, upon heroin.
Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
use 'http://www.orphanet.org/rdfns#pat_id_647' instead. New Label : Hirschsprung disease
An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.
A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182).
A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.
The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium.
Use http://purl.obolibrary.org/obo/UBERON_0001769
An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities.
Those disorders that have a disturbance in mood as their predominant feature.
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Infections with bacteria of the species NEISSERIA MENINGITIDIS.
A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults.
progressive intracranial occlusive arteropathy (Moyamoya)
use 'http://www.orphanet.org/rdfns#pat_id_2373' instead. New Label : Moyamoya disease
Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.
A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane.
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387).
Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment.
The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system.
Death of a bone or part of a bone, either atraumatic or posttraumatic.
A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.
A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait.
Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317).
Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body.
Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less.
Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections.
FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.
Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS.
Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736).
Central retinal vein and its tributaries. It runs a short course within the optic nerve and then leaves and empties into the superior ophthalmic vein or cavernous sinus.
A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.
An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation ( CARDIAC SINUS ARREST) and impulse conduction ( SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
use 'http://www.orphanet.org/rdfns#pat_id_17628' instead. New Label : Sick sinus syndrome
A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown.
Anterior Cerebral Circulation Infarction
Infarction, Anterior Cerebral Circulation
Infarction, Brain, Posterior Circulation
Infarction, Posterior Circulation, Brain
Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)
Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert.
An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors.
Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms.
An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.
Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC).
Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)
The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream.
A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST.
Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts.
The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT.
Orthopedic appliances used to support, align, or hold parts of the body in correct position. (Dorland, 28th ed).
Vaccination is: a process' that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intend to invoke a protective immune response.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The hemodynamic and electrophysiological action of the LEFT ATRIUM.
The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance.
Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body.
A clinical laboratory measurement is a measurement of some entity e.g. erythrocyte count which is used in the process of clinical diagnosis in human patients
A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used in the process of disease diagnosis in human patients.
Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live.
The length of time of an organism's life.
The internal resistance of the BLOOD to shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such as SICKLE CELL ANEMIA andPOLYCYTHEMIA.
Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body.
The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure.
Measurement of rate of settling of erythrocytes in anticoagulated blood.
The number of red blood cells per unit volume in a sample of venous blood.
ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
A test to determine the ability of an individual to maintain homeostatis of blood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).
The number of WHITE BLOOD CELLSÂ per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells.
The number of PLATELETSÂ per unit volume in a sample of venous BLOOD.
The time required for the appearance of FIBRINÂ strands following the mixing of PLASMAÂ with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARINÂ therapy.
A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis
The volume of air that is exhaled by a maximal expiration following a maximal inspiration.
Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITYÂ determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFRÂ and FEF 25%-75%.
Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITYÂ determination . It is usually given as FEVÂ followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity.
Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety.
The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity.
A state in which attention is largely directed outward from the self.
Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm.
The unsuccessful attempt to kill oneself.
Conceptual functions or thinking in all its forms.
Measurements of the height, weight, length, area, etc., of the human and animal body or its parts.
PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
The number of times the HEART VENTRICLES contract per unit of time, usually per minute.
Recording of the moment-to-moment electromotive forces of the HEARTÂ as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate.
Behaviors associated with the ingesting of alcoholic beverages, including social drinking.
Behaviors associated with the ingesting of coffee
The emergence of a tooth from within its follicle in the ALVEOLAR PROCESS of the MAXILLA or MANDIBLE into the ORAL CAVITY. (Boucher's Clinical Dental Terminology, 4th ed)
Type of declarative memory, consisting of personal memory in contrast to general knowledge.
Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)
Remembrance of information for a few seconds to hours.
The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes).
The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.
An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks.
The measurement around the body at the level of the ABDOMEN and just above the hip bone. The measurement is usually taken immediately after exhalation.
The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered "at risk" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)
The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty.
Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan
The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency.
The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value.
Is the quantification of the number of deaths is a population.
The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.
The process in which specialized SENSORY RECEPTOR CELLS transduce peripheral stimuli (physical or chemical) into NERVE IMPULSES which are then transmitted to the various sensory centers in the CENTRAL NERVOUS SYSTEM.
replaced by GO import, sensory perception
The ability to detect chemicals through gustatory receptors in the mouth, including those on the TONGUE; the PALATE; the PHARYNX; and the EPIGLOTTIS.
replaced by sensory perception of taste, imported from GO
Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain.
The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
The coordination of a sensory or ideational (cognitive) process and a motor activity.
Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information.
The characteristics in behavior that a certain person has.
A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion.
An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base.
A unit which measures substance that passes through or onto a given area per unit of time.
A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours.
A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses).
The transcriptome is the set of all RNA molecules, including mRNA, rRNA, tRNA, and other non-coding RNA produced in one or a population of cells.
The exome is the part of the genome formed by the complete content of exons, coding portions of genes in the genome that are expressed.
An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing.
The first time point measured at the start of some process.
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
Giresi, PG; Kim, J, McDaniell, RM, Iyer, VR, Lieb, JD (2007 Jun). FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatin.. Genome research 17 (6): 877–85. doi:10.1101/gr.5533506.
FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna.
Property of an organism which indicates that the organism's parents were genetically related (potentially for several generations). Inbreeding results in closer homozygosity.
Propety of an organism which indicates that the organism's parents are not closely related (e.g. family members).
The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences.
The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences.
The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences.
An organization which has supplied material to another individual or organization, such as to be used in a biomedical investigation.
Information concerning the envinonrment a material entity has been exposed to, such as an organism from a lake.
A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage.
Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another.
The role of a material which has been reviewed under peer review for quality control purposes.
Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510.
10% of flowers to be produced have opened
30% of flowers to be produced have opened
50% of flowers to be produced have opened
Senescence complete; ready for seed harvest.
Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich.
Peterson DG (2005) Reduced representation strategies and their application to plant genomes. In: The Handbook of Plant Genome Mapping: Genetic and Physical Mapping. Edited by: Meksem K, Kahl G. WILEY-VCH Verlag pp. 307-335.
Any chemical, biological or physical agents that increase the risk of neoplasms in humans or animals. Carcinogens include natural or synthesized compounds, certain viruses, and various sources of radiation. A carcinogen may directly alter the genetic material of cells (genotoxic), thereby initiating or promoting the process of malignant transformation; it also may induce cancers by mechanisms that do not involve a direct alteration of cellular genetic material (non-genotoxic). (NCI04)
C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood. Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers.
A ferritin measurement a is measurement of ferritin level in serum as an indicator of iron metabolism
soluble transferrin receptor measurement
A soluble transferrin receptor measurement (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism.
An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism
A PR interval is an electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle
angiotensin converting enzyme activity measurement
angiotensin converting ezyme activity level
An angiotensin converting enzyme (ACE) activity measurement measures the ACE activity in the blood. ACE mediates extracellular volume by participation in the renin-angiotensin system and is a therefore target for ACE inhibitors which aim to reduce blood pressure
An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating.
A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted
An insulin measurement is a measure of insulin typically performed in the diagnosis of patients
homeostasis model assessment B cell function
The HOMA-IR measurement employs the homeostatic model assessment (HOMA) to quantify beta-cell function.
An insulin sensitivity measurement is a measurement of insulin metabolism measured using the HOMA model.
C57BL/6 is a mouse strain as described in Jackson Laboratory strain index
A mutation induced by irradiation usually gamma-ray or X-ray.
The HOMA-IR measurement employs the homeostatic model assessment (HOMA) to quantify insulin resistance.
homeostasis model assessment insulin resistance
Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Adiponectin levels have been shown to beinversely correlated with with the risk of type 2 diabetes, coronary artery disease, stroke, and several metabolic traits.
A measurement quantifying some blood cell, or component.
A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism.
A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging.
monocyte early outgrowth colony forming unit
early outgrowth endothelial progenitor cell colony forming units
A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology.
monocyte early outgrowth colony forming units
A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis.
Spine bone size is a measurement of the dimensions of the spine.
Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia.
HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection.
Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture.
Bone geometry is the measure of the dimensions of some bone
bone quantitative ultrasound measurement
A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned.
A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual.
A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc.
An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality
A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function.
The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include: CD62 antigen-like family member P Granule membrane protein 140 GMP-140 Leukocyte-endothelial cell adhesion molecule 3 LECAM3 Platelet activation dependent granule-external membrane protein PADGEM
A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events.
soluble intercellular adhesion molecule-1
A biological macromolecule that has an adhesion disposition.
A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events.
use 'http://www.orphanet.org/rdfns#pat_id_3654' instead. New Label : Hemoglobin E disease
Hemoglobin E disease is an autosomal recessive genetic disorder caused by a single point mutation in the hemoglobin molecule.
replaced by sensory perception of bitter taste imported from Go
Any measurable or observable characteristic related to the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system.
A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample.
The MCH is the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count
mean corpuscular hemoglobin concentration
mean corpuscular haemoglobin concentration
The mean corpuscular gemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell
A triglyceride measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease.
A urate measurement is the quantification of some urate in body fluid
serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse.
Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease.
A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure.
An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc.
A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin.
use 'http://www.orphanet.org/rdfns#pat_id_10960' instead. New Label : Bronchopulmonary dysplasia
A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)
An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months.
A processual entity that realizes a plan which is the concretization of a plan specification.
Is the quantification of amygdala response to stimulus using MRI.
Is a quantification of some aspect of the genome, e.g. copy number variation at some locus.
Is the quantification of some glycoprotein.
Is the quantification of some measureable quality of a population e.g. birth rate.
Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity.
Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle.
A Saccharomyces cerevisiae commercially available strain used in pseudohyphal growth studies. Granek and Magwene, PLoS Genet. 2010 Jan 22;6(1):e1000823, established that certain lineages of the Sigma1278B background contain a nonsense mutation in RIM15, a G-to-T transversion at position 1216 that converts a Gly codon to an opal stop codon. This rim15 mutation interacts epistatically with mutations in certain other genes to affect colony morphology.
A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum
The process of increasing the mass of an organism over time.
The process of increasing body mass during treatment with an antipsychotic drug. http://ajp.psychiatryonline.org/article.aspx?articleid=173781
The measurement of the non-albumin portion of blood protein (globulin) in serum
5-HTT brain serotonin transporter levels
A serotonir transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET.
A bilirubin measurement is a quantification of bilirubin typically measured in serum.
A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans.
A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion)
A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)
Retinoic acid receptor responder protein 2 measurement
Tazarotene-induced gene 2 protein measurement
A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL.
CD62 antigen-like family member E measurement
An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker.
eukocyte-endothelial cell adhesion molecule 2 measurement
endothelial-leukocyte adhesion molecule 1measurement
A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease.
The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It ca.n be used as a proxy for brain development
A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of B12 and/or folate deficiency, and as part of a cardiac risk assessment.
A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity.
Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine.
An IL-18 measurement is the quantification of IL-18, typically in blood.
A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function.
obsolete_alanine transaminase measurement
duplicate with http://www.ebi.ac.uk/efo/EFO_0004735 serum alanine aminotransferase measurement
An alanine transaminase measurement is the quantification of this liver enzyme typically measured in blood.
A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood
A quantification of the naphthyl-keratin adduct levels. naphthyl-keratin adduct is used as a marker for exposure to the xenobiotic napthalene.
A complete blood cell count quantifies specific blood components.
A quantification of lymphocytes in blood.
obsolete_gamma glutamyl transpeptidase measurement
the quantification of gamma glutamyl transpeptidase, typically in blood, used as a diagnotic test of liver function and disease.
bachial circumference (BC) is a measurement of the diameter of the upper arm and can be used as an indicator of muscle mass and fat tissue.
obsolete_aspirin induced asthma
replaced by an import from HPO - http://purl.obolibrary.org/obo/HP_0012042
obsolete_thyroid stimulating hormone measurement
Is a quantification of thyroid-stimulating hormone (also known as TSH or thyrotropin). a hormone that stimulates the thyroid gland to produce thyroxine (T4), and then triiodothyronine (T3) which stimulates the metabolism of almost every tissue in the body.[1] It is a glycoprotein hormone synthesized and secreted by thyrotrope cells in the anterior pituitary gland, which regulates the endocrine function of the thyroid gland. A TSH test is used in the diagnosis and monitoring of thyroid conditions.
Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels.
The process of transmission of HIV infection from mother to child during pregnancy, birth or breastfeeding.
diabetes mellitus type 2 associated cataract
Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism
Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986.
Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft.
Genomic data is data about the genomes of an organism.
Transcriptomic data is data about RNA transcribed by a cell, cells or organism. This includes mRNA, tRNA and cDNA.
Metagenomic data is data about the genomes of a sample or samples containing mixed material such as from genetic material recovered directly from environmental samples.
Metatranscriptomic data is data about transcriptomic data from groups of organisms.
Synthetic DNA data is data about DNA that has been artificially created without initial template DNA such as from naturally occuring genomic sequences in an organism.
Viral RNA data is data about a virus which stores its genetic information in RNA.
A peptic ulcer arising in the small intestine.
cystic fibrosis associated meconium ileum
Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis The presence of meconium ileus is not related to the severity of the cystic fibrosis.
Schizophrenia which does not respond to commonly used treatments.
Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis.
low density lipoprotein cholesterol measurement
The measurement of LDL cholesterol in blood used as a risk indicator for heart disease.
high density lipoprotein cholesterol measurement
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
The measurement of triglycerides in blood used as a risk indicator for heart disease.
Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and is the major protein component of high density lipoprotein (HDL) in plasma. It is is implicated as a risk factor for atherosclerotic diseases such as coronary heart disease and stroke.
The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71.
Knee osteoarthritis is a degenerative disease of the knee joint
is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease.
is a quantification of Vitamin K or Phylloquinone, a polycyclic aromatic ketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytyl substituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor during photosynthesis, forming part of the electron transport chain of Photosystem I.
Is a quantification of factor VII in serum, (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class.
is a quantification of Vitamin B12, vitamin B12 or vitamin B-12, is a water-solublevitamin with a key role in the normal functioning of the brain and nervous system, and for the formation of blood. It is one of the eight B vitamins. It is normally involved in themetabolism of every cell of the human body, especially affecting DNA synthesis and regulation, but also fatty acid synthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis.
is a quantification of Vitamin B6 a water soluble vitamin
Is a quantification of sphingolipids - molecules playing a role in signal transmission.
is a quantification of circulating fibrinogen (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation.
A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer.
A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease
Insulin-Like Growth Factor Binding Protein 3 levels
Is the quantification of IGFBP-3, a member of the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased IIGFBP3 protein levels are used as a biomarker for prostate cancer progression.
Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers.
Is a quantification of iany of the insulin like growth factors
Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis.
Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A.
A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH)
A nevus count is the quantification of nevi on the skin.
Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals.
A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage.
is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor.
is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis.
Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies.
Is a quantifictaion of blood haptoglobin. This test is used as in the diagnosis of tranfusion reaction and haemolytic anaemia.
White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function.
iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients.
Is a quantification of `Calcification` (PATO:0001447) affecting the `coronary arteries` (FMA:3800) (dtefined by the HPO) typically measured by tomography . Calcification of vasculature is is associated with myocardial infarction.
Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccine. A vaccine is a preparationcontaining substances with antigenic properties administered to activate the immune system, thereby inducing an immune response.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based chemotherapy stimulus.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a TNF antagonist.
A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction.
A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP.
Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping.
A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting.
A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s).
Methodological variation study design specific for array technology
A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships.
Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease
The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle
A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.
Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample.
Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.
A cardiac arrthythmia with a genetic cause.
Increased time between the start of the Q wave and the end of the T wave.
use 'http://www.orphanet.org/rdfns#pat_id_658' instead. New Label : Familial long QT syndrome
obsolete_Jervell and Lange-Nielsen syndrome
Deafness, Congenital, and Functional Heart Disease
Cardioauditory Syndrome of Jervell and Lange-Nielsen
Prolonged QT Interval in EKG and Sudden Death
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
use 'http://www.orphanet.org/rdfns#pat_id_12056' instead. New Label : Jervell and Lange-Nielsen syndrome
Cardioauditory Syndrome of Jervell and Lange Nielsen
Ventricular tachyarrhythmias occurring in association with short QT syndrome
use 'http://www.orphanet.org/rdfns#pat_id_10670' instead. New Label : Familial short QT syndrome
use 'http://www.orphanet.org/rdfns#pat_id_8022' instead. New Label : Brugada syndrome
A condition characterized by a pattern of right bundle branch block (RBBB) and ST-segment elevation within electrocardiogram (ECG) leads V1-V3. This pattern emerges as a result of a defect in ion channel genes, resulting in abnormal electrophysiological activity in the right ventricle and a propensity to malignant tachyarrhythmias.
obsolete_Catecholaminergic polymorphic ventricular tachycardia
use 'http://www.orphanet.org/rdfns#pat_id_3525' instead. New Label : Catecholaminergic polymorphic ventricular tachycardia
Ventricular Tachycardia associated with syncope and/or cardiac arrest triggered by emotion or exercise in patients whose baseline ECG is normal. (ACC)
Is a quantification of fetal hemoglobin in blood.
Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation.
Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma.
sex hormone globulin binding measurement
Is a quantification of sex hormone binding globulin. The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology.
Is a quantification of circulating estradiol a circulating steriod sex hormone.
Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition
An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money.
A drug dependence that is a psychological dependency on the regular use of metamphetamine.
The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual
The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual
This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition.
Panteli C; New insights into the pathogenesis of infantile pyloric stenosis. Pediatr Surg Int. 2009 Dec;25(12):1043-52. Epub 2009 Sep 16. [abstract]
A distinct, highly heritable Hodgkin lymphoma subtype.
A cleft resulting from incomplete merging or fusion of embryonic facial processes normally uniting in the formation of the face, cleft lip or cleft palate.
using orphanet orofacial clefting syndrome instead
Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines.
Elephantiasis is a result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the host’s immune response, and the numerous opportunistic infections and disorders that arise.
A form of elephantiasis in which no parasitic infection is detected.
Is the measurement of the ratio of forced expiratory volume (FEV) to forced vital capacity (FCV), used as a measure of pulmonary function.
Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty.
An infarct detected by MRI and not determined to be clinically significant
use 'http://www.orphanet.org/rdfns#pat_id_11144' instead. New Label : Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis (TPP) is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism (overactivity of the thyroid gland). Hypokalemia (a decreased potassium level in the blood) is usually present during attacks. The condition may be life-threatening if weakness of the breathing muscles leads to respiratory failure, or if the low potassium levels lead to cardiac arrhythmias (irregularities in the heart rate). If untreated, it is typically recurrent in nature. The condition has been linked with genetic mutations in genes that code for certain ion channels that transport electrolytes (sodium and potassium) across cell membranes. The main ones are the L-type calcium channel α1-subunit and potassium inward rectifier 2.6 it is therefore classified as a channelopathy The abnormality in the channel is thought to lead to shifts of potassium into cells, under conditions of high thyroxine (thyroid hormone) levels, usually with an additional precipitant. Treatment of the hypokalemia, followed by correction of the hyperthyroidism, leads to complete resolution of the attacks. It occurs predominantly in males of Chinese, Japanese, Vietnamese, Filipino, and Korean descent. TPP is one of several conditions that can cause periodic paralysis.
An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)
An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes.
A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)
Gaucher's disease is a genetic disease in which lipid accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramidase can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy. The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450
use 'http://www.orphanet.org/rdfns#pat_id_644' instead. New Label : Gaucher disease
Calcification of the coronary artery, used as a measure of coronary atherosclerosis, a risk factor for myocardial infarction.
Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events.
This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class.
Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs).
The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet.
Is a quantification of some eye structure or property of an eye structure, such as corneal thickness.
Is the quantification of some lipoprotein
anti-cyclic citrullinated peptide antibody measurement
Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis.
serum alanine aminotransferase measurement
Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function.
Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function.
Is a of quantification some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations.
Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that tocotrienols also have vitamin E function).
Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this.
Is a quantification of blood urea nitrogen used in the measure of renal function.
Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located.
Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense.
Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure.
lipoprotein-associated phospholipase A(2) measurement
Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker.
Lipoprotein-associated phospholipase A(2) levels
Lipoprotein-associated phospholipase A(2) level
Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term.
Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid.
monocyte chemoattractant protein-1 measurement
Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation.
monocyte chemotactic protein-1 measurement
Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells.
Chemokine (C-C motif) ligand 4 measurement
Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation, chemoattractant for natural killer cells, monocytes and a variety of other immune cells.
Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq)
Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation.
interleukin 1 receptor antagonist measurement
Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure
Is a quantification of total tau protein, a biomarker for Alzheimer's disease.
Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease.
vascular endothelial growth factor measurement
Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer.
Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease.
Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity.
Is a quantification of a particular location of adipose tissue.
visceral:subcutaneous adipose tissue ratio
Is a quantification of visceral to subcutaneous adipose tissue.
follicle stimulating hormone measurement
Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve.
Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is produced by the granulosa cells of the early developing antral follicles. These are the immature eggs that wake up from their dormant state and develop into mature eggs. As the number of oocytes decline, the number of small antral follicles decline in number and the serum Anti-Mullerian hormone level falls.
Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones.
visual cortical surface area measurement
Is a quantification of the surface area of the visual cortex, it is variable and heritable, and is correlated with visual acuity and visual perception.
A form of hypertension with early onset relative to normal range for a given population.
Mastication of tobacco, correlated with an increased risk of oral cancers.
An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure.
A drug dependence that is the physiological result of being addicted to alcohol and nicotine.
The process of questioning an individual, usually by means of a survey to determine general health.
The CHAOS scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the child’s home environment.
A measure of non social behaviour used in behavioral studies to examine autistic like traits.
A measure of social behaviour used in behavioral studies to examine autistic like traits.
mental or behavioral disorder measurement
A measure of an individual or population behaviour e.g. by adminsistration of a questionaire.
Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious.
A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated.
South Texas Assessment of Neurocognition
The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test.
Mini-International Neuropsychiatric Interview
The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials.
Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. ANF is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue).
Is a quantification of CD40 ligand, primarily expressed on activated CD4+ T lymphocytes.
tissue plasminogen activator measurement
Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration.
plasminogen activator inhibitor 1 measurement
Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis
The response of human skin to sun exposure.
Development of pigmented spots on the skin due to accumulation of melanin resulting from exposure to sunlight
Li-Fraumeni syndrome is a rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
use 'http://www.orphanet.org/rdfns#pat_id_196' instead. New Label : Li-Fraumeni syndrome
A quantification of a genomic variation that increases or decreases the copy number of a given region.
Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS).
Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm.
Is a quantification of family size, also used as a measure of male fertility.
A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction.
Is a quantification of birth rate, te ratio of live births in an area to the population of that area, expressed per 1000 people in the population per year. Also used as a measure of male fertility
Formal thought disorder (FTD), or disorganized speech, is one of the central signs of schizophrenia
Is a quantification of some asbestos exposure,
Is a quantification of sleep time in humans where average sleep time was less than five hours.
Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis
fructose-bisphosphate aldolase measurement
Is a quantification of Fructose-Bisphosphate Aldolase,is an enzyme catalyzing a reversible reaction that splits the aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehyde 3-phosphate (GAP).
Is a quantification of interleukin-6, a pro-inflammatory and anti-inflammatory cytokine.
Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response.
Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response.
This is a container class for the alpha globulins, which will be child terms of it. E.g. haptoglobin, see also: α1-antitrypsin Alpha 1-antichymotrypsin Orosomucoid (acid glycoprotein) Serum amyloid A Alpha 1-lipoprotein [edit]Alpha 2 globulins Haptoglobin Alpha-2u globulin α2-macroglobulin Ceruloplasmin Thyroxine-binding globulin Alpha 2-antiplasmin Protein C Alpha 2-lipoprotein Angiotensinogen
Is a quantification of any of the alpha globulin class of proteins, typically in serum.
Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis
Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood.
transforming growth factor beta measurement
Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis.
Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies
The ratio of males to females for live births
behavior or behavioral disorder measurement
Measurements used to quantify, or assess human behaviour or disorderd behaviours.
An inventory for personality traits devised by Cloninger et al. Traits scored include: Novelty Seeking (NS) Harm Avoidance (HA) Reward Dependence (RD) Persistence (PS) Self-Directedness (SD) Cooperativeness (CO) Self-Transcendence (ST)
anti-neutrophil antibody associated vasculitis
Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.
Human economic and social preferences determined by application of a survey or questionnaire.
The genetic variation of individuals in a population.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an irinotecan stimulus. Irinotecan prevents DNA from unwinding by inhibition of topoisomerase 1. In chemical terms, it is a semisynthetic analogue of the natural alkaloid camptothecin ts main use is in colon cancer, in particular, in combination with other chemotherapy agents. This includes the regimen FOLFIRI, which consists of infusional 5-fluorouracil, leucovorin, and irinotecan.
The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders
A RR interval is an electrocardiography measurement - R wave to R wave interval (RR interval) and is the inverse of the heart rate.
Is a quantification of the optic disk size.
Is a quantification of neutrophils in blood.
Is a quantification of alcohol consumed by a human.
Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation.
Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV.
Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease.
Is the ratio of 2D:4D used a a marker for prenatal androgen exposure.
Is a quantification of eosinphils in blood.
Is a quantification of any or all of the B vitamins
Is a quantification of the size of a human hip bone.
Is a quantification of magnesium in serum.
Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter
The age at which some process, or disease started in a human individual.
Is the quantification of any vitamin A compound.
Calcification of the abdominal aortic artery, used as an indicator of sub clinical athrosclerosis
Is a quantification of the common carotid intimal medial thickness.
Is the quantification of serum phosphorus
Is the quantification of phytosterol, plant derived cholesterol like compounds.
Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity.
Is a quantification of the volume of the thyroid.
Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein. e.g. anti-islet autoantibodies.
Is a quantification of brain volume using magnetic resonance imaging.
Is a quantification of the secreted glycoprotein YKL-40 (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression.
Is a quantification of some sleep parameter.
Is a quantification of any molecule involved in the process of inflammatory response.
A container class for inflammatory biomarker measurements, populated by selecting all human proteins annotated with inflammatory response, or a child term, and including measurements of these proteins in this class. Only protein-GO term associations with a curated evidence code were considered, so IEA for e.g. were excluded.
Is a quantification of some cytokine, secreted cell signalling molecules.
Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease.
Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics)
Is the quantification of arsenic ini urine.
Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity
Is a rare form of human corneal dystrophy. It is caused by mutations in the TGFBI gene encoding the protein keratoepithelin, and is inherited in an autosomal dominant pattern
use 'http://www.orphanet.org/rdfns#pat_id_13980' instead. New Label : Granular corneal dystrophy type II
obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome
A rare genetic disorder in which the eyelids are abnormally shaped
use 'http://www.orphanet.org/rdfns#pat_id_238' instead. New Label : Blepharophimosis-epicanthus inversus-ptosis
Is a quantification of some aspect of breast size
early cardiac repolarization measurement
Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads.
Is a quantification of intracranial volume.
Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness
Emesis and queasiness occurring after anesthesia.
Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.
Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions.
A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.
A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.)
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The Yoruba people are one of the largest ethnic groups in West Africa.
Population of northern and western European ancestry.
probe design element
The probe which is used in an assay such as an array for detecting sequence or gene expression levels.
obsolete_hereditary genetic disorder
A hereditary genetic disorder is a genetic disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state which is directly inherited.
induced pluripotent stem cell
Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer.
metastasis to lymph node
A type of carcinoma which has spread to lymph nodes from some other primary cancer site.
testosterone measurement
is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.
dihydrotestosterone measurement
is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for androgen receptors.
CYP3A4 activity
is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition).
Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)
serum IgA measurement
Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity.
Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI.
facial neural processing
Is a quantification of the ability of humans to process different facial expressions, measured by MRI.
vaspin measurement
Is a quantification of vaspin, commonly termed Serpin A12 (visceral adipose tissue-derived serine protease inhibitor) , typically in serum an adipokine which may modulate insulin activity in white adipose tissue (Uniprot).
high throughput sequence alignment protocol
Is a protocol which provides instructions on the alignment of sequencing reads to reference genome
age at diagnosis
The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer.
metastasis free survival
The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population.
progression free survival
Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease.
Apparently health human non-fetal tissue.
peripheral vein
use 'http://www.orphanet.org/rdfns#pat_id_104' instead. New Label : Ataxia-telangiectasia
tumor stage
Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another).
All child terms imported from RadLex, with Radlex Xrefs. Closest classification to ArrayExpress type data.
M stage
N stage
T stage
M0 distant metastasis stage
M1 distant metastasis stage
MX distant metastasis stage
N0 lymph node stage
N1 lymph node stage
N2 lymph node stage
N3 lymph node stage
NX lymph node stage
T0 stage
T1 tumor stage
T2 tumor stage
T3 tumor stage
T3a tumor stage
T3b tumor stage
T3c tumor stage
T4 tumor stage
T4a tumor stage
T4b tumor stage
Tis
Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)
A stage in which the tumor cannot be evaluated
clinical temporal measurement
A temporal measurement related to disease progression
date of birth
The point in time at which an individual was born.
alive at endpoint
A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation.
disease recurrence
The recurrence of a disease after treatment
date of diagnosis
The point at which a clinical diagnosis is made.
melanoma staging
Breslow thickness
The measurement in millimeters of the vertical thickness of primary cutaneous melanoma. Breslow thickness is measured from the granular layer of the epidermis, or the ulcer base (if ulcerated), to the deepest tumor cells. It is used in staging of melanoma. (NCI)
Clark level
A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS
Clark level I
A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis.
Clark level II
A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface.
Clark level III
A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis.
Clark level IV
A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis
Clark level V
A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue.
gene knock in
a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a "targeted" insertion.
total RNA
A RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen.
Alexa Fluor 647
Alexa Fluor 555
somatic genotype
The total sum of the genetic information of an organism's somatic cells
germline genotype
The total sum of the genetic information of an organism's germline
Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight.
Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture.
The peridontal microbiome is a collection of collectivity of microorganisms isolated from human gum.
A collection or collectivity of microorganisms.
Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes.
Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes.
A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels of platelet reactivity are reported to be associated with cardiovascular events.
Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).
Embryoid bodies (EBs) are three-dimensional aggregates of pluripotent stem cells.
A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)
An acute or chronic inflammatory process affecting the middle ear.
Is a quantification of immunoglobulin M, an antibody produced by B cells.
lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine.
The weight of all organs and tissue in an individual less the weight of the individual's body fat.
Ruggenenti P and Remuzzi G (2000) Nephropathy of type 1 and type 2 diabetes: diverse pathophysiology, same treatment? Nephrology Dialysis Transplantation Volume 15, Issue 12Pp. 1900-1902.
Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy.
Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking.
The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
The quantification of N-glycans in a plasma sample.
The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
454 Sequencing
454 sequencing is a DNA sequencing using 454 technology from Roche, which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin.
A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified.
A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)
Meijer et al, http://genomebiology.com/2011/12/2/R16
A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)
The latitude at which a sample was obtained. For example a sea water sample.
collection longitude
The longitude at which a sample was obtained. For example a sea water sample.
adipose tissue derived mesenchymal stem cell
A adult mesenchymal stem cell derived from adipose tisssue
human mesenchymal stem cell from adipose tissue
placental pericyte
Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody Species: Human, Vertebrates Gene: BCL11A ENSG00000119866
Anti-trimethyl-Histone H3 (Lys27) Antibody Species: Human, Mouse Gene: HIST3H3 ENSG00000168148
Anti-trimethyl-Histone H3 (Lys4) Antibody Species: Human, Vertebrates Gene: HIST3H3 ENSG00000168148
Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G.
Label for the immunoprecipitate when control assays are used for ChIP-seq experiments. Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases.
IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes. As an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process.
RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest. By isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR.
Anti-CTCF antibody Species: Human, Mouse, Rat, Primate, Canine (depends on vendor) Gene: CTCF ENSG00000102974
Measurement of the volume of the hippocampus
The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction
Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals.
Atrophy of the hippocampus as a result of some external stress or disease
obsolete_response to temozolomide
cardiac troponin T measurement
Is a quatification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction.
Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae).
Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease.
Is a parasitic infection of the skin caused by the Leishmania protozoan parasite
Is a quantification of some aspect of erythrocyte function, quanity, or composition.
454 GS 20 standard manufacturer's protocol
The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol.
internal carotid intimal medial thickness
Is a quantification of the internal carotid intimal medial thickness.
A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle.
QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle
The determination of the amount of myoglobin present in a sample, usually blood
The quantification of some tyrosine, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process.
instrument part
Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments.
substrate
A substrate is the surface on which material, such as an organism, is grown or attached.
glass substrate
nylon substrate
nitrocellulose substrate
silicon substrate
collection of material
A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials.
block
A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy.
array surface coating
The surface used to coat the array substrate.
aminosilane substrate coating
An array substrate coating formed using aminosilane.
polylysine substrate coating
An array substrate coating formed using polylysine.
array reporter
A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified.
in situ oligo
A type of reporter which is created using in situ methods.
spotted antibody reporter
Type of array reporter which is formed from antibodies being spotted directly on to the array surface.
spotted colony reporter
Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface.
spotted double stranded DNA reporter
An array reporter formed from directly spotting double stranded DNA on to the array surface.
spotted protein reporter
Type of array reporter which is formed from proteins being spotted directly on to the array surface.
spotted single stranded DNA PCR amplicon reporter
An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface.
spotted single stranded oligo reporter
An array reporter created by directly spotting single stranded oligonucleotides on to the array surface.
quantification of the pneumoprotein CC16
quantification of the pneumoprotein surfactant protein D
Illumina Genome Analyzer standard manufacturer's protocol
The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol.
Illumina Genome Analyzer II standard manufacturer's protocol
The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol.
Illumina Genome Analyzer IIx standard manufacturer's protocol
The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol.
Illumina HiSeq 1000 standard manufacturer's protocol
The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol.
Illumina HiSeq 2000 standard manufacturer's protocol
The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol.
Illumina MiSeq standard manufacturer's protocol
The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol.
quantification of the total volume of the brain
quantification of basophils in the blood
quantification of monocytes in the blood
quantification of the volume of the entorhinal cortex
circumferential measurement of the largest part of the hip
measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria.
measurement of the interval from the offset of the P wave to the onset of the QRS wave complex
abdomenal wall
The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus).
bronchiole
the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO].
cortical collecting duct
The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex
stele
A cardinal organ part that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue.
flag leaf
The last mature leaf before the inflorescence in a cereal crop plant.
anther
A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)
filament
antennal disc
Posterior portion of the eye-antennal disc. It gives rise to the adult antennal segments and the maxillary palp, as well as contributing to the head capsule.
eye disc
Anterior, bulbous portion of the eye-antennal disc that gives rise to the eye as well as contributing to the head capsule (Cohen, 1993).
quantification of some lipid or lipoprotein
measurement of the percentages of fat, bone and muscle in human bodies
Distance between the tips of the longest fingers with the arms maximally outstretched laterally.
The determination of the amount of fatty acids present in a sample.
A measurement of the folic acid in a biological sample
The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.
A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow
quantification of some metabolite in urine
Is the quantification of Chemokine (C-C motif) ligand 5, involved in response to infection and inflammation,
Regulated on Activation, Normal T cell Expressed and Secreted
quantification of some antioxidant in a biological sample
a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen
a specimen which has been treated with RNAlater, with the aim of preserving specimen RNA prior to extraction
quantification of the activity of enzymes from the arylesterase family
cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient
quantification of the ratio of the protein albumin to globulin in the blood serum
liver injury resulting from hepatitis C infection
quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function
quantification of homovanillic acid in cerebrospinal fluid
quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid
quantification of 3-methoxy-4-hydroxyphenylglycol in cerebrospinal fluid
quantification of some amino acid in a biological assay
strain
A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics.
cultivar
conduction system disorder
A conduction system disorder, or disease is a form of heat disease in which the electrical conduction system of the heart is disrupted, for example branch block
acquired long QT syndrome
A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome.
Quantification of some ceruloplasmin in the blood
autoimmune disease
Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease.
Columbia ecotype
The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative.
Col-0
Col-0 is an Arabidopsis ecotype and a direct descendant of Col-1 donated via AIS.
Col-1
Col-1 is an Arabidopsis ecotype and the original AIS donation of Columbia (isolate 5-13) from George Redei.
Col-2
Col-2 is an Arabidopsis ecotype and is a line that has been single seed selected from Col-1 and propagated through 5 generations of single seed descent by Shauna Somerville.
Col-3
Col-3 is an Arabidopsis ecotype and a line that Elliot Meyerowitz used for the RFLP mapping data and has shown polymorphisms in the hands of Chris Somerville to Col-2. It is also one of the female parents used by Jim Beynon, Eric Holub and Ian Crute for the generation of their RI population (the other being glabrous Col-5).
Col-4
Col-4 is an Arabidopsis ecotype and is the line used as the parental for the recombinant inbred population of Caroline Dean.
Col-5
Col-5 is an Arabidopsis ecotype and the glabrous (gl1-1) Columbia line used by Jim Beynon, Eric Holub and Ian Crute as one of the female parents (the other being Col-3) for the generation of their RI population.
Landsberg ecotype
Landsberg erecta ecotype is an Arabidopsis thaliana ecotype. It was originally selected by Rédei from within a Landsberg population on which he had performed some X-ray mutagenesis experiments.
Ler-1
Wassilewskija ecotype
Wassilewskija is an Arabidopsis ecotype.
Ws-1
Ws-2
Ws-3
Umkirch ecotype
Uk-1
Uk-2
Uk-3
Calver ecotype
Cal-0
Blanes ecotype
Bla-1
wild type genotype
Burren ecotype
Bur-0
Bologna ecotype
Bl-0
Bl-1
Bayreuth ecotype
Bay-0
Coimbra ecotype
Co-1
San Eleno ecotype
Se-0
CD1 mus strain
The original group of Swiss mice that served as progenitors of this stock consisted of two male and seven female albino mice derived from a non-inbred stock in the laboratory of Dr. de Coulon, Centre Anticancereux Romand, Lausanne, Switzerland.
C57BL
An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology.
N'Dama
N'Dama are a breed of cattle from West Africa, of the Bos taurus-type. Other names for them include Boenca or Boyenca (Guinea-Bissau), Fouta Jallon, Fouta Longhorn, Fouta Malinke, Futa, Malinke, Mandingo (Liberia), N'Dama Petite (Senegal). Originating in the Guinea highlands they are also found in southern Senegal, Guinea-Bissau, Gambia, Mali, Côte d'Ivoire, Liberia, Nigeria and Sierra Leone. They are trypanotolerant, allowing them to be kept in tsetse fly infested areas. They also show superior resistance to ticks and the diseases they carry and to Haemonchus contortus stomach worms.
Boran cattle
Boran cattle are a popular Zebu beef breed in eastern Africa.
DBA/2J
Inbred Strain TJL Mating System: Sibling x Sibling (Female x Male) Species: laboratory mouse H2 Haplotype: d Generation: F219p (14-DEC-06) Appearance: dilute brown Related Genotype: a/a Tyrp1b/Tyrp1b Myo5ad/Myo5ad Important Note This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by 3 months of age. Strain Description DBA/2J is a widely used inbred strain that is valuable in a wide number of research areas including cardiovascular biology, neurobiology, and sensorineural research.
Beck, J.A., et al., Genealogies of mouse inbred strains (2000), Nature, Jan2000, v24, p23
terminal ileum
The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve.
uterus fundus
The fundus of the uterus is the top portion, opposite from the cervix. Fundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates.
measure of the variation of red blood cell (RBC) volume
quantification of N-linked IgG glycans in a serum sample
quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholinesterase inhbitor stimulus.
quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease
quantification of the MHC component beta-2 microglobulin, typically in a blood sample
quantification of the outcome of a kidney transplant
Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- β 2 glycoprotein I antibodies (anti- β 2GPI).They can be an indicator of antiphospholipid syndrome
growth is measured as the difference in body height between two time points
A group of disorders characterized by physiological and psychological disturbances in appetite or food intake.
An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING.
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dabigatran etexilate, an anticoagulant from the class of direct thrombin inhibitors. Dabigatran is used to prevent strokes in patients with atrial fibrillations due to causes other than heart valve disease, and at least one additional risk factor for stroke,and to prevent the formation of blood clots in the veins in adults who have had an operation to replace a hip or knee.
detection or quantification of bands of immunoglobulins in blood serum or cerebrospinal fluid, usually as an indicator of central nervous system disorders such as multiple sclerosis, Lyme disease, systemic lupus erythematosus or neurosarcoidosis
any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels
measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test
quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI
quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin
atmosphere unit
The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure.
An obsolete class is any class which is no longer required in the ontology but is maintained within the ontology file so that an audit trail exists for legacy reasons. Obsolete class and its children is disjoint with the main body of the ontology.
A disposition is an entity that essentially causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease.
A realizable entity [snap:RealizableEntity] that essentially causes a specific process or transformation in the object [snap:Object] in which it inheres, under specific circumstances and in conjunction with the laws of nature. A general formula for dispositions is: X (object [snap:Object] has the disposition D to (transform, initiate a process) R under conditions C.
For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease.
A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for. For example,
A realizable entity [snap:RealizableEntity] the manifestation of which is an essentially end-directed activity of a continuant [snap:Continuant] entity in virtue of that continuant [snap:Continuant] entity being a specific kind of entity in the kind or kinds of contexts that it is made for.
A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray.
An independent continuant [snap:IndependentContinuant] that is spatially extended whose identity is independent of that of other entities and can be maintained through time. Note: Material entity [snap:MaterialEntity] subsumes object [snap:Object], fiat object part [snap:FiatObjectPart], and object aggregate [snap:ObjectAggregate], which assume a three level theory of granularity, which is inadequate for some domains, such as biology.
A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee
A specifically dependent continuant [snap:SpecificallyDependentContinuant] that is exhibited if it inheres in an entity or entities at all (a categorical property).
A realizable entity [snap:RealizableEntity] the manifestation of which brings about some result or end that is not essential to a continuant [snap:Continuant] in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant [snap:Continuant] in some kinds of natural, social or institutional contexts.
A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role). For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease.
For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease.
A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities.
An independent continuant [snap:IndependentContinuant] consisting of a characteristic spatial shape in relation to some arrangement of other continuant [snap:Continuant] entities and of the medium which is enclosed in whole or in part by this characteristic spatial shape. Site [snap:Site] entities are entities that can be occupied by other continuant [snap:Continuant] entities.
A continuant [snap:Continuant] that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same.
An experimental factor which is a property or characteristic of some other entity. For example, the mouse has the colour white.
A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs.
An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity.
Congenital bilateral absence of vas deferens
Congenital bilateral aplasia of vas deferens
Gene [OrphaNum:119382 ; Name:Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) ; Symbol:CFTR ; xref: ENSEMBL:ENSG00000001626 ; xref: REACTOME:P13569 ; xref: GENATLAS:CFTR ; xref: HGNC:1884 ; xref: OMIM:602421 ; xref: UNIPROTKB/SWISSPROT:P13569]
prevalence- 1-5 / 10 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Gene [OrphaNum:123860 ; Name:Notch homolog 3 (Drosophila) ; Symbol:NOTCH3 ; xref: GENATLAS:NOTCH3 ; xref: HGNC:7883 ; xref: OMIM:600276 ; xref: UNIPROTKB/SWISSPROT:Q9UM47 ; xref: ENSEMBL:ENSG00000074181 ; xref: REACTOME:Q9UM47]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136
Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1220
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Berardinelli-Seip congenital lipodystrophy
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:171064 ; Name:Caveolin 1, caveolae protein, 22kDa ; Symbol:CAV1 ; xref: GENATLAS:CAV1 ; xref: HGNC:1527 ; xref: OMIM:601047 ; xref: UNIPROTKB/SWISSPROT:Q03135 ; xref: ENSEMBL:ENSG00000105974 ; xref: REACTOME:Q03135]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528
Gene [OrphaNum:119085 ; Name:Bernardinelli-Seip congenital lipodystrophy 2 (seipin) ; Symbol:BSCL2 ; xref: GENATLAS:BSCL2 ; xref: HGNC:15832 ; xref: OMIM:606158 ; xref: UNIPROTKB/SWISSPROT:Q96G97 ; xref: ENSEMBL:ENSG00000168000]
Gene [OrphaNum:119525 ; Name:1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) ; Symbol:AGPAT2 ; xref: ENSEMBL:ENSG00000169692 ; xref: REACTOME:O15120 ; xref: GENATLAS:AGPAT2 ; xref: HGNC:325 ; xref: OMIM:603100 ; xref: UNIPROTKB/SWISSPROT:O15120]
Follicular atrophoderma and basal cell carcinomas
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941
Gene [OrphaNum:120713 ; Name:Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) ; Symbol:COL3A1 ; xref: GENATLAS:COL3A1 ; xref: HGNC:2201 ; xref: OMIM:120180 ; xref: UNIPROTKB/SWISSPROT:P02461 ; xref: ENSEMBL:ENSG00000168542 ; xref: REACTOME:P02461]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86
prevalence- null; AgeOfOnset- null; AgeOfDeath-null;
Follicular stimulating hormone-resistant ovaries
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243
prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive;
Gene [OrphaNum:285341 ; Name:PSMC3 Interacting Protein ; Symbol:PSMC3IP ; xref: ENSEMBL:ENSG00000131470 ; xref: OMIM:608665 ; xref: UNIPROTKB/SWISSPROT:Q9P2W1 ; xref: GENATLAS:PSMC3IP ; xref: HGNC:17928 ; xref: REACTOME:Q9P2W1]
Gene [OrphaNum:158386 ; Name:Bone morphogenetic protein 15 ; Symbol:BMP15 ; xref: GENATLAS:BMP15 ; xref: HGNC:1068 ; xref: OMIM:300247 ; xref: UNIPROTKB/SWISSPROT:O95972 ; xref: ENSEMBL:ENSG00000130385]
Gene [OrphaNum:168312 ; Name:Nuclear receptor subfamily 5, group A, member 1 ; Symbol:NR5A1 ; xref: GENATLAS:NR5A1 ; xref: HGNC:7983 ; xref: OMIM:184757 ; xref: UNIPROTKB/SWISSPROT:Q13285 ; xref: IUPHAR:632 ; xref: REACTOME:Q13285 ; xref: ENSEMBL:ENSG00000136931]
Gene [OrphaNum:121943 ; Name:Follicle stimulating hormone receptor ; Symbol:FSHR ; xref: GENATLAS:FSHR ; xref: HGNC:3969 ; xref: OMIM:136435 ; xref: UNIPROTKB/SWISSPROT:P23945 ; xref: IUPHAR:253 ; xref: REACTOME:P23945 ; xref: ENSEMBL:ENSG00000170820]
Immunodeficiency - centromeric instability - facial anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268
Gene [OrphaNum:268103 ; Name:zinc finger and BTB domain containing 24 ; Symbol:ZBTB24 ; xref: ENSEMBL:ENSG00000112365 ; xref: HGNC:21143 ; xref: OMIM:614064 ; xref: GENATLAS:ZBTB24 ; xref: UNIPROTKB/SWISSPROT:O43167]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:121150 ; Name:DNA (cytosine-5-)-methyltransferase 3 beta ; Symbol:DNMT3B ; xref: UNIPROTKB/SWISSPROT:Q9UBC3 ; xref: GENATLAS:DNMT3B ; xref: HGNC:2979 ; xref: OMIM:602900 ; xref: ENSEMBL:ENSG00000088305]
Gene [OrphaNum:168319 ; Name:Jerky homolog (mouse) ; Symbol:JRK ; xref: ENSEMBL:ENSG00000234616 ; xref: GENATLAS:JRK ; xref: HGNC:6199 ; xref: OMIM:603210 ; xref: UNIPROTKB/SWISSPROT:O75564]
Gene [OrphaNum:121303 ; Name:EF-hand domain (C-terminal) containing 1 ; Symbol:EFHC1 ; xref: GENATLAS:EFHC1 ; xref: HGNC:16406 ; xref: OMIM:608815 ; xref: UNIPROTKB/SWISSPROT:Q5JVL4 ; xref: ENSEMBL:ENSG00000096093]
Gene [OrphaNum:121989 ; Name:Gamma-aminobutyric acid (GABA) A receptor, alpha 1 ; Symbol:GABRA1 ; xref: GENATLAS:GABRA1 ; xref: HGNC:4075 ; xref: OMIM:137160 ; xref: UNIPROTKB/SWISSPROT:P14867 ; xref: IUPHAR:404 ; xref: ENSEMBL:ENSG00000022355 ; xref: REACTOME:P14867]
Gene [OrphaNum:119168 ; Name:Calcium channel, voltage-dependent, beta 4 subunit ; Symbol:CACNB4 ; xref: ENSEMBL:ENSG00000182389 ; xref: REACTOME:O00305 ; xref: GENATLAS:CACNB4 ; xref: HGNC:1404 ; xref: OMIM:601949 ; xref: UNIPROTKB/SWISSPROT:O00305]
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:226047 ; Name:Chloride channel 2 ; Symbol:CLCN2 ; xref: GENATLAS:CLCN2 ; xref: HGNC:2020 ; xref: OMIM:600570 ; xref: UNIPROTKB/SWISSPROT:P51788 ; xref: ENSEMBL:ENSG00000114859]
Gene [OrphaNum:122817 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 3 ; Symbol:KCNQ3 ; xref: GENATLAS:KCNQ3 ; xref: HGNC:6297 ; xref: OMIM:602232 ; xref: UNIPROTKB/SWISSPROT:O43525 ; xref: IUPHAR:562 ; xref: ENSEMBL:ENSG00000184156 ; xref: REACTOME:O43525]
Gene [OrphaNum:121991 ; Name:Gamma-aminobutyric acid (GABA) A receptor, delta ; Symbol:GABRD ; xref: GENATLAS:GABRD ; xref: HGNC:4084 ; xref: OMIM:137163 ; xref: UNIPROTKB/SWISSPROT:O14764 ; xref: IUPHAR:416 ; xref: ENSEMBL:ENSG00000187730]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307
Gene [OrphaNum:268061 ; Name:kinesin family member 7 ; Symbol:KIF7 ; xref: HGNC:30497 ; xref: OMIM:611254 ; xref: GENATLAS:KIF7 ; xref: UNIPROTKB/SWISSPROT:Q2M1P5 ; xref: ENSEMBL:ENSG00000166813]
Gene [OrphaNum:292992 ; Name:Centrosomal protein 41kDa ; Symbol:CEP41 ; xref: HGNC:12370 ; xref: OMIM:610523 ; xref: GENATLAS:CEP41 ; xref: UNIPROTKB/SWISSPROT:Q9BYV8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475
Gene [OrphaNum:120140 ; Name:Transmembrane protein 67 ; Symbol:TMEM67 ; xref: GENATLAS:TMEM67 ; xref: HGNC:28396 ; xref: OMIM:609884 ; xref: UNIPROTKB/SWISSPROT:Q5HYA8 ; xref: ENSEMBL:ENSG00000164953]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:286631 ; Name:Transmembrane protein 237 ; Symbol:TMEM237 ; xref: GENATLAS:TMEM237 ; xref: UNIPROTKB/SWISSPROT:Q96Q45 ; xref: HGNC:14432 ; xref: OMIM:614423 ; xref: ENSEMBL:ENSG00000155755]
Gene [OrphaNum:274226 ; Name:tectonic family member 1 ; Symbol:TCTN1 ; xref: ENSEMBL:ENSG00000204852 ; xref: HGNC:26113 ; xref: OMIM:609863 ; xref: UNIPROTKB/SWISSPROT:Q2MV58]
Gene [OrphaNum:179401 ; Name:ADP-ribosylation factor-like 13B ; Symbol:ARL13B ; xref: UNIPROTKB/SWISSPROT:Q3SXY8 ; xref: GENATLAS:ARL13B ; xref: HGNC:25419 ; xref: OMIM:608922 ; xref: ENSEMBL:ENSG00000169379]
Gene [OrphaNum:208347 ; Name:Inositol polyphosphate-5-phosphatase, 72 kDa ; Symbol:INPP5E ; xref: ENSEMBL:ENSG00000148384 ; xref: GENATLAS:INPP5E ; xref: HGNC:21474 ; xref: UNIPROTKB/SWISSPROT:Q9NRR6 ; xref: OMIM:613037]
Gene [OrphaNum:299619 ; Name:Chromosome 5 open reading frame 42 ; Symbol:C5ORF42 ; xref: HGNC:25801 ; xref: OMIM:614571 ; xref: GENATLAS:C5orf42 ; xref: UNIPROTKB/SWISSPROT:Q9H799]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant;
Gene [OrphaNum:119968 ; Name:T-box 5 ; Symbol:TBX5 ; xref: GENATLAS:TBX5 ; xref: HGNC:11604 ; xref: OMIM:601620 ; xref: UNIPROTKB/SWISSPROT:Q99593 ; xref: REACTOME:Q99593 ; xref: ENSEMBL:ENSG00000089225]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495
TNF receptor 1 associated periodic syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome
Gene [OrphaNum:120173 ; Name:Tumor necrosis factor receptor superfamily, member 1A ; Symbol:TNFRSF1A ; xref: GENATLAS:TNFRSF1A ; xref: HGNC:11916 ; xref: OMIM:191190 ; xref: UNIPROTKB/SWISSPROT:P19438 ; xref: REACTOME:P19438 ; xref: ENSEMBL:ENSG00000067182]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant;
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001
Gene [OrphaNum:121891 ; Name:Forkhead box C2 (MFH-1, mesenchyme forkhead 1) ; Symbol:FOXC2 ; xref: GENATLAS:FOXC2 ; xref: HGNC:3801 ; xref: OMIM:602402 ; xref: UNIPROTKB/SWISSPROT:Q99958 ; xref: ENSEMBL:ENSG00000176692]
Metaphyseal chondrodysplasia, Jansen type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant;
Gene [OrphaNum:118140 ; Name:Parathyroid hormone 1 receptor ; Symbol:PTH1R ; xref: OMIM:168468 ; xref: UNIPROTKB/SWISSPROT:Q03431 ; xref: HGNC:9608 ; xref: GENATLAS:PTH1R ; xref: ENSEMBL:ENSG00000160801 ; xref: IUPHAR:331 ; xref: REACTOME:Q03431]
Gene [OrphaNum:118489 ; Name:Sodium channel, voltage-gated, type I, alpha subunit ; Symbol:SCN1A ; xref: GENATLAS:SCN1A ; xref: HGNC:10585 ; xref: OMIM:182389 ; xref: UNIPROTKB/SWISSPROT:P35498 ; xref: IUPHAR:578 ; xref: ENSEMBL:ENSG00000144285 ; xref: REACTOME:P35498]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Unknown;
Gene [OrphaNum:118525 ; Name:Sodium channel, voltage-gated, type IX, alpha subunit ; Symbol:SCN9A ; xref: GENATLAS:SCN9A ; xref: HGNC:10597 ; xref: OMIM:603415 ; xref: UNIPROTKB/SWISSPROT:Q15858 ; xref: ENSEMBL:ENSG00000169432 ; xref: IUPHAR:584 ; xref: REACTOME:Q15858]
Gene [OrphaNum:118498 ; Name:Sodium channel, voltage-gated, type I, beta ; Symbol:SCN1B ; xref: GENATLAS:SCN1B ; xref: HGNC:10586 ; xref: OMIM:600235 ; xref: UNIPROTKB/SWISSPROT:Q07699 ; xref: ENSEMBL:ENSG00000105711 ; xref: REACTOME:Q07699]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069
Gene [OrphaNum:121993 ; Name:Gamma-aminobutyric acid (GABA) A receptor, gamma 2 ; Symbol:GABRG2 ; xref: GENATLAS:GABRG2 ; xref: HGNC:4087 ; xref: OMIM:137164 ; xref: UNIPROTKB/SWISSPROT:P18507 ; xref: REACTOME:P18507 ; xref: IUPHAR:414 ; xref: ENSEMBL:ENSG00000113327]
Gene [OrphaNum:119428 ; Name:Cholinergic receptor, nicotinic, gamma ; Symbol:CHRNG ; xref: GENATLAS:CHRNG ; xref: HGNC:1967 ; xref: OMIM:100730 ; xref: UNIPROTKB/SWISSPROT:P07510 ; xref: REACTOME:P07510 ; xref: IUPHAR:475 ; xref: ENSEMBL:ENSG00000196811]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108
Gene [OrphaNum:118222 ; Name:Receptor-associated protein of the synapse ; Symbol:RAPSN ; xref: GENATLAS:RAPSN ; xref: HGNC:9863 ; xref: OMIM:601592 ; xref: UNIPROTKB/SWISSPROT:Q13702 ; xref: ENSEMBL:ENSG00000165917]
Gene [OrphaNum:119411 ; Name:Cholinergic receptor, nicotinic, alpha 1 (muscle) ; Symbol:CHRNA1 ; xref: GENATLAS:CHRNA1 ; xref: HGNC:1955 ; xref: OMIM:100690 ; xref: UNIPROTKB/SWISSPROT:P02708 ; xref: IUPHAR:462 ; xref: REACTOME:P02708 ; xref: ENSEMBL:ENSG00000138435]
Gene [OrphaNum:119422 ; Name:Cholinergic receptor, nicotinic, delta ; Symbol:CHRND ; xref: GENATLAS:CHRND ; xref: HGNC:1965 ; xref: OMIM:100720 ; xref: UNIPROTKB/SWISSPROT:Q07001 ; xref: IUPHAR:476 ; xref: ENSEMBL:ENSG00000135902 ; xref: REACTOME:Q07001]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Familial or sporadic hemiplegic migraine
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Gene [OrphaNum:119129 ; Name:Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ; Symbol:CACNA1A ; xref: GENATLAS:CACNA1A ; xref: HGNC:1388 ; xref: OMIM:601011 ; xref: UNIPROTKB/SWISSPROT:O00555 ; xref: IUPHAR:532 ; xref: ENSEMBL:ENSG00000141837 ; xref: REACTOME:O00555]
Gene [OrphaNum:121497 ; Name:ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide ; Symbol:ATP1A2 ; xref: GENATLAS:ATP1A2 ; xref: HGNC:800 ; xref: OMIM:182340 ; xref: UNIPROTKB/SWISSPROT:P50993 ; xref: REACTOME:P50993 ; xref: ENSEMBL:ENSG00000018625]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569
Gene [OrphaNum:122591 ; Name:Immunoglobulin heavy constant mu ; Symbol:IGHM ; xref: GENATLAS:IGHM ; xref: HGNC:5541 ; xref: OMIM:147020 ; xref: UNIPROTKB/SWISSPROT:P01871 ; xref: REACTOME:P01871 ; xref: ENSEMBL:ENSG00000211899]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:123129 ; Name:Leucine rich repeat containing 8 family, member A ; Symbol:LRRC8A ; xref: GENATLAS:LRRC8A ; xref: HGNC:19027 ; xref: OMIM:608360 ; xref: UNIPROTKB/SWISSPROT:Q8IWT6 ; xref: ENSEMBL:ENSG00000136802]
Gene [OrphaNum:122598 ; Name:Immunoglobulin lambda-like polypeptide 1 ; Symbol:IGLL1 ; xref: GENATLAS:IGLL1 ; xref: HGNC:5870 ; xref: OMIM:146770 ; xref: UNIPROTKB/SWISSPROT:P15814 ; xref: ENSEMBL:ENSG00000128322]
Gene [OrphaNum:236971 ; Name:B-cell linker ; Symbol:BLNK ; xref: ENSEMBL:ENSG00000095585 ; xref: REACTOME:Q8WV28 ; xref: GENATLAS:BLNK ; xref: HGNC:14211 ; xref: UNIPROTKB/SWISSPROT:Q8WV28 ; xref: OMIM:604515]
Gene [OrphaNum:236967 ; Name:CD79b molecule, immunoglobulin-associated beta ; Symbol:CD79B ; xref: ENSEMBL:ENSG00000007312 ; xref: REACTOME:P40259 ; xref: HGNC:1699 ; xref: GENATLAS:CD79B ; xref: UNIPROTKB/SWISSPROT:P40259 ; xref: OMIM:147245]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110
Gene [OrphaNum:221180 ; Name:CD79a molecule, immunoglobulin-associated alpha ; Symbol:CD79A ; xref: ENSEMBL:ENSG00000105369 ; xref: REACTOME:P11912 ; xref: GENATLAS:CD79A ; xref: HGNC:1698 ; xref: OMIM:112205 ; xref: UNIPROTKB/SWISSPROT:P11912]
Severe combined immunodeficiency with leukopenia
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:173523 ; Name:Adenylate kinase 2 ; Symbol:AK2 ; xref: GENATLAS:AK2 ; xref: HGNC:362 ; xref: OMIM:103020 ; xref: UNIPROTKB/SWISSPROT:Q8TCY3 ; xref: REACTOME:Q8TCY3 ; xref: ENSEMBL:ENSG00000004455]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal;
Gene [OrphaNum:118143 ; Name:Protein tyrosine phosphatase, non-receptor type 11 ; Symbol:PTPN11 ; xref: GENATLAS:PTPN11 ; xref: HGNC:9644 ; xref: OMIM:176876 ; xref: UNIPROTKB/SWISSPROT:Q06124 ; xref: ENSEMBL:ENSG00000179295 ; xref: REACTOME:Q06124]
Gene [OrphaNum:119066 ; Name:V-raf murine sarcoma viral oncogene homolog B1 ; Symbol:BRAF ; xref: GENATLAS:BRAF ; xref: HGNC:1097 ; xref: OMIM:164757 ; xref: UNIPROTKB/SWISSPROT:P15056 ; xref: REACTOME:P15056 ; xref: ENSEMBL:ENSG00000157764]
Gene [OrphaNum:138722 ; Name:v-raf-1 murine leukemia viral oncogene homolog 1 ; Symbol:RAF1 ; xref: GENATLAS:RAF1 ; xref: HGNC:9829 ; xref: OMIM:164760 ; xref: UNIPROTKB/SWISSPROT:P04049 ; xref: ENSEMBL:ENSG00000132155 ; xref: REACTOME:P04049]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Gene [OrphaNum:123645 ; Name:Myosin VA (heavy chain 12, myoxin) ; Symbol:MYO5A ; xref: GENATLAS:MYO5A ; xref: HGNC:7602 ; xref: OMIM:160777 ; xref: UNIPROTKB/SWISSPROT:Q9Y4I1 ; xref: ENSEMBL:ENSG00000197535 ; xref: REACTOME:Q9Y4I1]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445
Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33540
prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null;
Oxoprolinuria due to oxoprolinase deficiency
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572
Gene [OrphaNum:297456 ; Name:5-oxoprolinase (ATP-hydrolysing) ; Symbol:OPLAH ; xref: OMIM:614243 ; xref: GENATLAS:OPLAH ; xref: HGNC:8149]
Gamma-glutamyl transpeptidase deficiency
Gene [OrphaNum:122086 ; Name:Gamma-glutamyltransferase 1 ; Symbol:GGT1 ; xref: GENATLAS:GGT1 ; xref: HGNC:4250 ; xref: OMIM:231950 ; xref: UNIPROTKB/SWISSPROT:P19440 ; xref: ENSEMBL:ENSG00000100031 ; xref: REACTOME:P19440]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573
Gamma-glutamylcysteine synthetase deficiency
Gene [OrphaNum:122057 ; Name:Glutamate-cysteine ligase, catalytic subunit ; Symbol:GCLC ; xref: GENATLAS:GCLC ; xref: HGNC:4311 ; xref: OMIM:606857 ; xref: UNIPROTKB/SWISSPROT:P48506 ; xref: REACTOME:P48506 ; xref: ENSEMBL:ENSG00000001084]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149
Gene [OrphaNum:120412 ; Name:Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) ; Symbol:UMOD ; xref: GENATLAS:UMOD ; xref: HGNC:12559 ; xref: OMIM:191845 ; xref: UNIPROTKB/SWISSPROT:P07911 ; xref: ENSEMBL:ENSG00000169344]
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Gene [OrphaNum:122744 ; Name:Junction plakoglobin ; Symbol:JUP ; xref: GENATLAS:JUP ; xref: HGNC:6207 ; xref: OMIM:173325 ; xref: UNIPROTKB/SWISSPROT:P14923 ; xref: ENSEMBL:ENSG00000173801 ; xref: REACTOME:P14923]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217
Autosomal recessive limb-girdle muscular dystrophy type 2G
Limb girdle muscular dystrophy due to telethonin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514
Gene [OrphaNum:119971 ; Name:Titin-cap (telethonin) ; Symbol:TCAP ; xref: GENATLAS:TCAP ; xref: HGNC:11610 ; xref: OMIM:604488 ; xref: UNIPROTKB/SWISSPROT:O15273 ; xref: REACTOME:O15273 ; xref: ENSEMBL:ENSG00000173991]
Autosomal recessive limb-girdle muscular dystrophy type 2I
Limb girdle muscular dystrophy due to FKRP deficiency
Gene [OrphaNum:121835 ; Name:Fukutin related protein ; Symbol:FKRP ; xref: GENATLAS:FKRP ; xref: HGNC:17997 ; xref: OMIM:606596 ; xref: UNIPROTKB/SWISSPROT:Q9H9S5 ; xref: ENSEMBL:ENSG00000181027]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515
Autosomal dominant limb-girdle muscular dystrophy type 1D
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516
Gene [OrphaNum:296684 ; Name:DnaJ (Hsp40) homolog, subfamily B, member 6 ; Symbol:DNAJB6 ; xref: HGNC:14888 ; xref: OMIM:611332 ; xref: GENATLAS:DNAJB6 ; xref: UNIPROTKB/SWISSPROT:O75190]
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Autosomal dominant limb-girdle muscular dystrophy type 1E
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34517
Gene [OrphaNum:121053 ; Name:Desmin ; Symbol:DES ; xref: GENATLAS:DES ; xref: HGNC:2770 ; xref: OMIM:125660 ; xref: UNIPROTKB/SWISSPROT:P17661 ; xref: REACTOME:P17661 ; xref: ENSEMBL:ENSG00000175084]
Congenital muscular dystrophy with integrin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520
Gene [OrphaNum:166720 ; Name:Integrin, alpha 7 ; Symbol:ITGA7 ; xref: GENATLAS:ITGA7 ; xref: HGNC:6143 ; xref: OMIM:600536 ; xref: UNIPROTKB/SWISSPROT:Q13683 ; xref: ENSEMBL:ENSG00000135424 ; xref: REACTOME:Q13683]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive;
Distal myopathy with early respiratory muscle involvement
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34521
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34526
Gene [OrphaNum:201089 ; Name:Epidermal growth factor (beta-urogastrone) ; Symbol:EGF ; xref: ENSEMBL:ENSG00000138798 ; xref: HGNC:3229 ; xref: OMIM:131530 ; xref: UNIPROTKB/SWISSPROT:P01133 ; xref: GENATLAS:EGF ; xref: REACTOME:P01133]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34527
Gene [OrphaNum:120625 ; Name:Claudin 16 ; Symbol:CLDN16 ; xref: GENATLAS:CLDN16 ; xref: HGNC:2037 ; xref: OMIM:603959 ; xref: UNIPROTKB/SWISSPROT:Q9Y5I7 ; xref: ENSEMBL:ENSG00000113946 ; xref: REACTOME:Q9Y5I7]
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Gene [OrphaNum:121972 ; Name:FXYD domain containing ion transport regulator 2 ; Symbol:FXYD2 ; xref: GENATLAS:FXYD2 ; xref: HGNC:4026 ; xref: OMIM:601814 ; xref: UNIPROTKB/SWISSPROT:P54710 ; xref: ENSEMBL:ENSG00000137731 ; xref: REACTOME:P54710]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34533
Glycogen storage disease due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive;
Gene [OrphaNum:122989 ; Name:Lysosomal-associated membrane protein 2 ; Symbol:LAMP2 ; xref: GENATLAS:LAMP2 ; xref: HGNC:6501 ; xref: OMIM:309060 ; xref: UNIPROTKB/SWISSPROT:P13473 ; xref: REACTOME:P13473 ; xref: ENSEMBL:ENSG00000005893]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587
Immunodeficiency by defective expression of HLA class 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592
Gene [OrphaNum:123371 ; Name:TAP binding protein (tapasin) ; Symbol:TAPBP ; xref: GENATLAS:TAPBP ; xref: HGNC:11566 ; xref: OMIM:601962 ; xref: UNIPROTKB/SWISSPROT:O15533 ; xref: ENSEMBL:ENSG00000231925 ; xref: REACTOME:O15533]
Gene [OrphaNum:123369 ; Name:Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ; Symbol:TAP1 ; xref: GENATLAS:TAP1 ; xref: HGNC:43 ; xref: OMIM:170260 ; xref: UNIPROTKB/SWISSPROT:Q03518 ; xref: REACTOME:Q03518 ; xref: ENSEMBL:ENSG00000168394]
Gene [OrphaNum:119922 ; Name:Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ; Symbol:TAP2 ; xref: GENATLAS:TAP2 ; xref: HGNC:44 ; xref: OMIM:170261 ; xref: UNIPROTKB/SWISSPROT:Q03519 ; xref: ENSEMBL:ENSG00000204267 ; xref: REACTOME:Q03519]
Gene [OrphaNum:117873 ; Name:Phospholipase A2, group VI (cytosolic, calcium-independent) ; Symbol:PLA2G6 ; xref: GENATLAS:PLA2G6 ; xref: HGNC:9039 ; xref: OMIM:603604 ; xref: UNIPROTKB/SWISSPROT:O60733 ; xref: ENSEMBL:ENSG00000184381]
Gene [OrphaNum:178127 ; Name:Fatty acid 2-hydroxylase ; Symbol:FA2H ; xref: GENATLAS:FA2H ; xref: HGNC:21197 ; xref: OMIM:611026 ; xref: UNIPROTKB/SWISSPROT:Q7L5A8 ; xref: ENSEMBL:ENSG00000103089]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069
Severe combined immunodeficiency T- B+ due to JAK3 deficiency
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:122729 ; Name:Janus kinase 3 (a protein tyrosine kinase, leukocyte) ; Symbol:JAK3 ; xref: GENATLAS:JAK3 ; xref: HGNC:6193 ; xref: OMIM:600173 ; xref: UNIPROTKB/SWISSPROT:P52333 ; xref: ENSEMBL:ENSG00000105639 ; xref: REACTOME:P52333]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093
Gene [OrphaNum:120345 ; Name:Twist homolog 1 (Drosophila) ; Symbol:TWIST1 ; xref: ENSEMBL:ENSG00000122691 ; xref: GENATLAS:TWIST1 ; xref: HGNC:12428 ; xref: OMIM:601622 ; xref: UNIPROTKB/SWISSPROT:Q15672]
Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35098
Gene [OrphaNum:281555 ; Name:Ephrin-A4 ; Symbol:EFNA4 ; xref: ENSEMBL:ENSG00000243364 ; xref: UNIPROTKB/SWISSPROT:P52798 ; xref: HGNC:3224 ; xref: OMIM:601380 ; xref: GENATLAS:EFNA4]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107
Gene [OrphaNum:121062 ; Name:24-dehydrocholesterol reductase ; Symbol:DHCR24 ; xref: GENATLAS:DHCR24 ; xref: HGNC:2859 ; xref: OMIM:606418 ; xref: UNIPROTKB/SWISSPROT:Q15392 ; xref: ENSEMBL:ENSG00000116133 ; xref: REACTOME:Q15392]
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Gene [OrphaNum:123953 ; Name:5'-nucleotidase, cytosolic III ; Symbol:NT5C3 ; xref: GENATLAS:NT5C3 ; xref: HGNC:17820 ; xref: OMIM:606224 ; xref: UNIPROTKB/SWISSPROT:Q9H0P0 ; xref: ENSEMBL:ENSG00000122643 ; xref: REACTOME:Q9H0P0]
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120
Gene [OrphaNum:117741 ; Name:Acid phosphatase 2, lysosomal ; Symbol:ACP2 ; xref: GENATLAS:ACP2 ; xref: HGNC:123 ; xref: OMIM:171650 ; xref: UNIPROTKB/SWISSPROT:P11117 ; xref: ENSEMBL:ENSG00000134575]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121
Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltose malabsorption
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:118716 ; Name:Sucrase-isomaltase (alpha-glucosidase) ; Symbol:SI ; xref: GENATLAS:SI ; xref: HGNC:10856 ; xref: OMIM:609845 ; xref: UNIPROTKB/SWISSPROT:P14410 ; xref: ENSEMBL:ENSG00000090402 ; xref: REACTOME:P14410]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
17b-hydroxysteroid dehydrogenase deficiency type 10
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35123
Gene [OrphaNum:122504 ; Name:Hydroxysteroid (17-beta) dehydrogenase 10 ; Symbol:HSD17B10 ; xref: GENATLAS:HSD17B10 ; xref: HGNC:4800 ; xref: OMIM:300256 ; xref: UNIPROTKB/SWISSPROT:Q99714 ; xref: REACTOME:Q99714 ; xref: ENSEMBL:ENSG00000072506]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic;
X-linked dominant chondrodysplasia punctata
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173
Gene [OrphaNum:121250 ; Name:Emopamil binding protein (sterol isomerase) ; Symbol:EBP ; xref: GENATLAS:EBP ; xref: HGNC:3133 ; xref: OMIM:300205 ; xref: UNIPROTKB/SWISSPROT:Q15125 ; xref: ENSEMBL:ENSG00000147155 ; xref: REACTOME:Q15125]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Gene [OrphaNum:123212 ; Name:Membrane frizzled-related protein ; Symbol:MFRP ; xref: GENATLAS:MFRP ; xref: HGNC:18121 ; xref: OMIM:606227 ; xref: UNIPROTKB/SWISSPROT:Q9BY79 ; xref: ENSEMBL:ENSG00000259159]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive;
Delta-1-pyrroline 5-carboxylate synthetase deficiency
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown;
Gene [OrphaNum:119578 ; Name:Aldehyde dehydrogenase 18 family, member A1 ; Symbol:ALDH18A1 ; xref: GENATLAS:ALDH18A1 ; xref: HGNC:9722 ; xref: OMIM:138250 ; xref: UNIPROTKB/SWISSPROT:P54886 ; xref: ENSEMBL:ENSG00000059573 ; xref: REACTOME:P54886]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35688
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Combined oxidative phosphorylation defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35696
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233
Gene [OrphaNum:120780 ; Name:Carboxypeptidase A6 ; Symbol:CPA6 ; xref: GENATLAS:CPA6 ; xref: HGNC:17245 ; xref: OMIM:609562 ; xref: UNIPROTKB/SWISSPROT:Q8N4T0 ; xref: ENSEMBL:ENSG00000165078]
Gene [OrphaNum:182553 ; Name:Chimerin (chimaerin) 1 ; Symbol:CHN1 ; xref: REACTOME:P15882 ; xref: ENSEMBL:ENSG00000128656 ; xref: GENATLAS:CHN1 ; xref: HGNC:1943 ; xref: OMIM:118423 ; xref: UNIPROTKB/SWISSPROT:P15882]
3-hydroxy 3-methylglutaryl-CoA synthase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701
Gene [OrphaNum:122453 ; Name:3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial) ; Symbol:HMGCS2 ; xref: GENATLAS:HMGCS2 ; xref: HGNC:5008 ; xref: OMIM:600234 ; xref: UNIPROTKB/SWISSPROT:P54868 ; xref: ENSEMBL:ENSG00000134240 ; xref: REACTOME:P54868]
Arginine:glycine amidinotransferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:122037 ; Name:Glycine amidinotransferase (L-arginine:glycine amidinotransferase) ; Symbol:GATM ; xref: GENATLAS:GATM ; xref: HGNC:4175 ; xref: OMIM:602360 ; xref: UNIPROTKB/SWISSPROT:P50440 ; xref: ENSEMBL:ENSG00000171766 ; xref: REACTOME:P50440]
Neurometabolic disorder due to serine deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Gene [OrphaNum:169960 ; Name:Chromosome 7 open reading frame 10 ; Symbol:C7ORF10 ; xref: OMIM:609187 ; xref: UNIPROTKB/SWISSPROT:Q9HAC7 ; xref: GENATLAS:DERP13 ; xref: HGNC:16001 ; xref: ENSEMBL:ENSG00000175600]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706
Aromatic L-aminoacid decarboxylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708
Gene [OrphaNum:121047 ; Name:Dopa decarboxylase (aromatic L-amino acid decarboxylase) ; Symbol:DDC ; xref: GENATLAS:DDC ; xref: HGNC:2719 ; xref: OMIM:107930 ; xref: UNIPROTKB/SWISSPROT:P20711 ; xref: ENSEMBL:ENSG00000132437 ; xref: REACTOME:P20711]
Gene [OrphaNum:119693 ; Name:Solute carrier family 5 (sodium/glucose cotransporter), member 1 ; Symbol:SLC5A1 ; xref: GENATLAS:SLC5A1 ; xref: HGNC:11036 ; xref: OMIM:182380 ; xref: UNIPROTKB/SWISSPROT:P13866 ; xref: REACTOME:P13866 ; xref: ENSEMBL:ENSG00000100170]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710
Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Gene [OrphaNum:121474 ; Name:Ataxia telangiectasia mutated ; Symbol:ATM ; xref: GENATLAS:ATM ; xref: HGNC:795 ; xref: OMIM:607585 ; xref: UNIPROTKB/SWISSPROT:Q13315 ; xref: ENSEMBL:ENSG00000149311 ; xref: REACTOME:Q13315]
Selective cobalamin malabsorption with proteinuria
Gene [OrphaNum:138568 ; Name:Amnionless homolog (mouse) ; Symbol:AMN ; xref: GENATLAS:AMN ; xref: HGNC:14604 ; xref: OMIM:605799 ; xref: UNIPROTKB/SWISSPROT:Q9BXJ7 ; xref: ENSEMBL:ENSG00000166126 ; xref: REACTOME:Q9BXJ7]
Gene [OrphaNum:120903 ; Name:Cubilin (intrinsic factor-cobalamin receptor) ; Symbol:CUBN ; xref: GENATLAS:CUBN ; xref: HGNC:2548 ; xref: OMIM:602997 ; xref: UNIPROTKB/SWISSPROT:O60494 ; xref: REACTOME:O60494 ; xref: ENSEMBL:ENSG00000107611]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858
Gene [OrphaNum:159526 ; Name:Dihydrofolate reductase ; Symbol:DHFR ; xref: GENATLAS:DHFR ; xref: HGNC:2861 ; xref: OMIM:126060 ; xref: UNIPROTKB/SWISSPROT:P00374 ; xref: ENSEMBL:ENSG00000228716 ; xref: REACTOME:P00374]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878
Gene [OrphaNum:122188 ; Name:Glutamate dehydrogenase 1 ; Symbol:GLUD1 ; xref: GENATLAS:GLUD1 ; xref: HGNC:4335 ; xref: OMIM:138130 ; xref: UNIPROTKB/SWISSPROT:P00367 ; xref: ENSEMBL:ENSG00000148672 ; xref: REACTOME:P00367]
Combined deficiency of factor V and factor VIII
Familial multiple coagulation factor deficiency
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909
Gene [OrphaNum:123170 ; Name:Multiple coagulation factor deficiency 2 ; Symbol:MCFD2 ; xref: GENATLAS:MCFD2 ; xref: HGNC:18451 ; xref: OMIM:607788 ; xref: UNIPROTKB/SWISSPROT:Q8NI22 ; xref: ENSEMBL:ENSG00000180398 ; xref: REACTOME:Q8NI22]
Gene [OrphaNum:123076 ; Name:Lectin, mannose-binding, 1 ; Symbol:LMAN1 ; xref: GENATLAS:LMAN1 ; xref: HGNC:6631 ; xref: OMIM:601567 ; xref: UNIPROTKB/SWISSPROT:P49257 ; xref: REACTOME:P49257 ; xref: ENSEMBL:ENSG00000074695]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36204
Gene [OrphaNum:124046 ; Name:Purinergic receptor P2Y, G-protein coupled, 12 ; Symbol:P2RY12 ; xref: GENATLAS:P2RY12 ; xref: HGNC:18124 ; xref: OMIM:600515 ; xref: UNIPROTKB/SWISSPROT:Q9H244 ; xref: IUPHAR:328 ; xref: ENSEMBL:ENSG00000169313 ; xref: REACTOME:Q9H244]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367
Autosomal recessive spondylocostal dysostosis
Gene [OrphaNum:159744 ; Name:LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ; Symbol:LFNG ; xref: GENATLAS:LFNG ; xref: HGNC:6560 ; xref: OMIM:602576 ; xref: UNIPROTKB/SWISSPROT:Q8NES3 ; xref: REACTOME:Q8NES3 ; xref: ENSEMBL:ENSG00000106003]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311
Gene [OrphaNum:139173 ; Name:Mesoderm posterior 2 homolog ; Symbol:MESP2 ; xref: GENATLAS:MESP2 ; xref: HGNC:29659 ; xref: OMIM:605195 ; xref: UNIPROTKB/SWISSPROT:Q0VG99 ; xref: ENSEMBL:ENSG00000188095]
Gene [OrphaNum:121110 ; Name:Delta-like 3 (Drosophila) ; Symbol:DLL3 ; xref: GENATLAS:DLL3 ; xref: HGNC:2909 ; xref: OMIM:602768 ; xref: UNIPROTKB/SWISSPROT:Q9NYJ7 ; xref: ENSEMBL:ENSG00000090932]
Gene [OrphaNum:165577 ; Name:Hairy and enhancer of split 7 (Drosophila) ; Symbol:HES7 ; xref: GENATLAS:HES7 ; xref: HGNC:15977 ; xref: OMIM:608059 ; xref: UNIPROTKB/SWISSPROT:Q9BYE0 ; xref: ENSEMBL:ENSG00000179111]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36382
Brain small vessel disease with hemorrhage
Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383
Gene [OrphaNum:120716 ; Name:Collagen, type IV, alpha 1 ; Symbol:COL4A1 ; xref: GENATLAS:COL4A1 ; xref: HGNC:2202 ; xref: OMIM:120130 ; xref: UNIPROTKB/SWISSPROT:P02462 ; xref: ENSEMBL:ENSG00000187498 ; xref: REACTOME:P02462]
Hereditary sensory and autonomic neuropathy type 1
Gene [OrphaNum:270026 ; Name:DNA (cytosine-5-)-methyltransferase 1 ; Symbol:DNMT1 ; xref: ENSEMBL:ENSG00000130816 ; xref: HGNC:2976 ; xref: OMIM:126375 ; xref: GENATLAS:DNMT1 ; xref: UNIPROTKB/SWISSPROT:P26358]
Gene [OrphaNum:119821 ; Name:Atlastin GTPase 1 ; Symbol:ATL1 ; xref: GENATLAS:SPG3A ; xref: HGNC:11231 ; xref: OMIM:606439 ; xref: UNIPROTKB/SWISSPROT:Q8WXF7 ; xref: ENSEMBL:ENSG00000198513]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386
Gene [OrphaNum:119854 ; Name:Serine palmitoyltransferase, long chain base subunit 1 ; Symbol:SPTLC1 ; xref: GENATLAS:SPTLC1 ; xref: HGNC:11277 ; xref: OMIM:605712 ; xref: UNIPROTKB/SWISSPROT:O15269 ; xref: REACTOME:O15269 ; xref: ENSEMBL:ENSG00000090054]
Gene [OrphaNum:244400 ; Name:Serine palmitoyltransferase, long chain base subunit 2 ; Symbol:SPTLC2 ; xref: GENATLAS:SPTLC2 ; xref: HGNC:11278 ; xref: OMIM:605713 ; xref: UNIPROTKB/SWISSPROT:O15270 ; xref: ENSEMBL:ENSG00000100596 ; xref: REACTOME:O15270]
Generalized epilepsy with febrile seizures-plus context
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Gene [OrphaNum:118500 ; Name:Sodium channel, voltage-gated, type II, alpha subunit ; Symbol:SCN2A ; xref: GENATLAS:SCN2A ; xref: HGNC:10588 ; xref: OMIM:182390 ; xref: UNIPROTKB/SWISSPROT:Q99250 ; xref: REACTOME:Q99250 ; xref: ENSEMBL:ENSG00000136531 ; xref: IUPHAR:579]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387
Gene [OrphaNum:118707 ; Name:Short stature homeobox ; Symbol:SHOX ; xref: GENATLAS:SHOX ; xref: HGNC:10853 ; xref: OMIM:312865 ; xref: UNIPROTKB/SWISSPROT:O15266 ; xref: ENSEMBL:ENSG00000185960]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240
Gene [OrphaNum:121177 ; Name:Dopamine receptor D2 ; Symbol:DRD2 ; xref: GENATLAS:DRD2 ; xref: HGNC:3023 ; xref: OMIM:126450 ; xref: UNIPROTKB/SWISSPROT:P14416 ; xref: IUPHAR:215 ; xref: ENSEMBL:ENSG00000149295 ; xref: REACTOME:P14416]
Gene [OrphaNum:118663 ; Name:Sarcoglycan, epsilon ; Symbol:SGCE ; xref: GENATLAS:SGCE ; xref: HGNC:10808 ; xref: OMIM:604149 ; xref: UNIPROTKB/SWISSPROT:O43556 ; xref: ENSEMBL:ENSG00000127990]
Gene [OrphaNum:120201 ; Name:Torsin family 1, member A (torsin A) ; Symbol:TOR1A ; xref: GENATLAS:TOR1A ; xref: HGNC:3098 ; xref: OMIM:605204 ; xref: UNIPROTKB/SWISSPROT:O14656 ; xref: ENSEMBL:ENSG00000136827]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899
Gene [OrphaNum:260583 ; Name:mitogen-activated protein kinase kinase kinase 1 ; Symbol:MAP3K1 ; xref: ENSEMBL:ENSG00000095015 ; xref: REACTOME:Q13233 ; xref: OMIM:600982 ; xref: HGNC:6848 ; xref: GENATLAS:MAP3K1 ; xref: UNIPROTKB/SWISSPROT:Q13233]
Gene [OrphaNum:121069 ; Name:Desert hedgehog homolog (Drosophila) ; Symbol:DHH ; xref: GENATLAS:DHH ; xref: HGNC:2865 ; xref: OMIM:605423 ; xref: UNIPROTKB/SWISSPROT:O43323 ; xref: REACTOME:O43323 ; xref: ENSEMBL:ENSG00000139549]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242
Gene [OrphaNum:119865 ; Name:Sex determining region Y ; Symbol:SRY ; xref: GENATLAS:SRY ; xref: HGNC:11311 ; xref: OMIM:480000 ; xref: UNIPROTKB/SWISSPROT:Q05066 ; xref: ENSEMBL:ENSG00000184895]
Gene [OrphaNum:123902 ; Name:Nuclear receptor subfamily 0, group B, member 1 ; Symbol:NR0B1 ; xref: GENATLAS:NR0B1 ; xref: HGNC:7960 ; xref: OMIM:300473 ; xref: UNIPROTKB/SWISSPROT:P51843 ; xref: IUPHAR:635 ; xref: ENSEMBL:ENSG00000169297 ; xref: REACTOME:P51843]
Gene [OrphaNum:168365 ; Name:Doublesex and mab-3 related transcription factor 2 ; Symbol:DMRT2 ; xref: GENATLAS:DMRT2 ; xref: HGNC:2935 ; xref: OMIM:604935 ; xref: UNIPROTKB/SWISSPROT:Q9Y5R5 ; xref: ENSEMBL:ENSG00000173253]
Gene [OrphaNum:240686 ; Name:Chromobox homolog 2 ; Symbol:CBX2 ; xref: UNIPROTKB/SWISSPROT:Q14781 ; xref: GENATLAS:CBX2 ; xref: ENSEMBL:ENSG00000173894 ; xref: HGNC:1552 ; xref: OMIM:602770]
Gene [OrphaNum:168362 ; Name:Doublesex and mab-3 related transcription factor 1 ; Symbol:DMRT1 ; xref: GENATLAS:DMRT1 ; xref: HGNC:2934 ; xref: OMIM:602424 ; xref: UNIPROTKB/SWISSPROT:Q9Y5R6 ; xref: ENSEMBL:ENSG00000137090]
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
X-linked immune dysregulation - polyendocrinopathy - enteropathy
Gene [OrphaNum:121913 ; Name:Forkhead box P3 ; Symbol:FOXP3 ; xref: GENATLAS:FOXP3 ; xref: HGNC:6106 ; xref: OMIM:300292 ; xref: UNIPROTKB/SWISSPROT:Q9BZS1 ; xref: ENSEMBL:ENSG00000049768]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- X-linked recessive;
Cardiodysrythmic potassium-sensitive periodic paralysis
Andersen cardiodysrythmic periodic paralysis
Gene [OrphaNum:122791 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 2 ; Symbol:KCNJ2 ; xref: GENATLAS:KCNJ2 ; xref: HGNC:6263 ; xref: OMIM:600681 ; xref: UNIPROTKB/SWISSPROT:P63252 ; xref: IUPHAR:430 ; xref: ENSEMBL:ENSG00000123700 ; xref: REACTOME:P63252]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553
Gene [OrphaNum:122756 ; Name:Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) ; Symbol:KCNA1 ; xref: GENATLAS:KCNA1 ; xref: HGNC:6218 ; xref: OMIM:176260 ; xref: UNIPROTKB/SWISSPROT:Q09470 ; xref: IUPHAR:538 ; xref: ENSEMBL:ENSG00000111262 ; xref: REACTOME:Q09470]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant;
Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:119467 ; Name:Chloride channel Kb ; Symbol:CLCNKB ; xref: GENATLAS:CLCNKB ; xref: HGNC:2027 ; xref: OMIM:602023 ; xref: UNIPROTKB/SWISSPROT:P51801 ; xref: ENSEMBL:ENSG00000184908]
Gene [OrphaNum:118740 ; Name:Solute carrier family 12 (sodium/chloride transporters), member 3 ; Symbol:SLC12A3 ; xref: GENATLAS:SLC12A3 ; xref: HGNC:10912 ; xref: OMIM:600968 ; xref: UNIPROTKB/SWISSPROT:P55017 ; xref: ENSEMBL:ENSG00000070915 ; xref: REACTOME:P55017]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358
Gene [OrphaNum:121174 ; Name:Dihydropyrimidinase ; Symbol:DPYS ; xref: GENATLAS:DPYS ; xref: HGNC:3013 ; xref: UNIPROTKB/SWISSPROT:Q14117 ; xref: OMIM:613326 ; xref: ENSEMBL:ENSG00000147647 ; xref: REACTOME:Q14117]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive;
Severe combined immunodeficiency with hypereosinophilia
Gene [OrphaNum:118218 ; Name:Recombination activating gene 2 ; Symbol:RAG2 ; xref: GENATLAS:RAG2 ; xref: HGNC:9832 ; xref: OMIM:179616 ; xref: UNIPROTKB/SWISSPROT:P55895 ; xref: ENSEMBL:ENSG00000175097]
Gene [OrphaNum:123058 ; Name:Ligase IV, DNA, ATP-dependent ; Symbol:LIG4 ; xref: GENATLAS:LIG4 ; xref: HGNC:6601 ; xref: OMIM:601837 ; xref: UNIPROTKB/SWISSPROT:P49917 ; xref: REACTOME:P49917 ; xref: ENSEMBL:ENSG00000174405]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041
Gene [OrphaNum:118215 ; Name:Recombination activating gene 1 ; Symbol:RAG1 ; xref: GENATLAS:RAG1 ; xref: HGNC:9831 ; xref: OMIM:179615 ; xref: UNIPROTKB/SWISSPROT:P15918 ; xref: ENSEMBL:ENSG00000166349]
Gene [OrphaNum:121027 ; Name:DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) ; Symbol:DCLRE1C ; xref: GENATLAS:DCLRE1C ; xref: HGNC:17642 ; xref: OMIM:605988 ; xref: UNIPROTKB/SWISSPROT:Q96SD1 ; xref: ENSEMBL:ENSG00000152457]
Gene [OrphaNum:121927 ; Name:FRAS1 related extracellular matrix protein 2 ; Symbol:FREM2 ; xref: GENATLAS:FREM2 ; xref: HGNC:25396 ; xref: OMIM:608945 ; xref: UNIPROTKB/SWISSPROT:Q5SZK8 ; xref: ENSEMBL:ENSG00000150893]
Gene [OrphaNum:303028 ; Name:Glutamate receptor interacting protein 1 ; Symbol:GRIP1 ; xref: HGNC:18708 ; xref: OMIM:604597 ; xref: GENATLAS:GRIP1 ; xref: UNIPROTKB/SWISSPROT:Q9Y3R0]
Gene [OrphaNum:121922 ; Name:Fraser syndrome 1 ; Symbol:FRAS1 ; xref: GENATLAS:FRAS1 ; xref: HGNC:19185 ; xref: OMIM:607830 ; xref: UNIPROTKB/SWISSPROT:Q86XX4 ; xref: ENSEMBL:ENSG00000138759]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Bietti crystalline corneoretinal dystrophy
Gene [OrphaNum:121002 ; Name:Cytochrome P450, family 4, subfamily V, polypeptide 2 ; Symbol:CYP4V2 ; xref: GENATLAS:CYP4V2 ; xref: HGNC:23198 ; xref: OMIM:608614 ; xref: UNIPROTKB/SWISSPROT:Q6ZWL3 ; xref: ENSEMBL:ENSG00000145476]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751
Gene [OrphaNum:119703 ; Name:Solute carrier family 6 (neutral amino acid transporter), member 19 ; Symbol:SLC6A19 ; xref: GENATLAS:SLC6A19 ; xref: HGNC:27960 ; xref: OMIM:608893 ; xref: UNIPROTKB/SWISSPROT:Q695T7 ; xref: ENSEMBL:ENSG00000174358 ; xref: REACTOME:Q695T7]
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:173500 ; Name:Solute carrier family 36 (proton/amino acid symporter), member 2 ; Symbol:SLC36A2 ; xref: GENATLAS:SLC36A2 ; xref: HGNC:18762 ; xref: OMIM:608331 ; xref: UNIPROTKB/SWISSPROT:Q495M3 ; xref: ENSEMBL:ENSG00000186335 ; xref: REACTOME:Q495M3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062
Gene [OrphaNum:173509 ; Name:Solute carrier family 6, member 18 ; Symbol:SLC6A18 ; xref: GENATLAS:SLC6A18 ; xref: HGNC:26441 ; xref: OMIM:610300 ; xref: UNIPROTKB/SWISSPROT:Q96N87 ; xref: ENSEMBL:ENSG00000164363 ; xref: REACTOME:Q96N87]
Gene [OrphaNum:173505 ; Name:Solute carrier family 6 (proline IMINO transporter), member 20 ; Symbol:SLC6A20 ; xref: UNIPROTKB/SWISSPROT:Q9NP91 ; xref: GENATLAS:SLC6A20 ; xref: HGNC:30927 ; xref: OMIM:605616 ; xref: ENSEMBL:ENSG00000163817 ; xref: REACTOME:Q9NP91]
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68334
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68335
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68336
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68346
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68356
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant;
Gene [OrphaNum:123585 ; Name:MutY homolog (E. coli) ; Symbol:MUTYH ; xref: ENSEMBL:ENSG00000132781 ; xref: GENATLAS:MUTYH ; xref: HGNC:7527 ; xref: OMIM:604933 ; xref: UNIPROTKB/SWISSPROT:Q9UIF7 ; xref: REACTOME:Q9UIF7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68363
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68364
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68366
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68373
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68378
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68385
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68388
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68402
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10
Periodic fever, aphtous stomatitis, pharyngitis, adenopathy syndrome
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665
Gene [OrphaNum:123243 ; Name:Microphthalmia-associated transcription factor ; Symbol:MITF ; xref: GENATLAS:MITF ; xref: HGNC:7105 ; xref: OMIM:156845 ; xref: UNIPROTKB/SWISSPROT:O75030 ; xref: ENSEMBL:ENSG00000187098]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775
Hereditary myopathy with lactic acidosis
Myopathy with exercise intolerance, Swedish type
Gene [OrphaNum:168093 ; Name:Iron-sulfur cluster scaffold homolog (E. coli) ; Symbol:ISCU ; xref: GENATLAS:ISCU ; xref: HGNC:29882 ; xref: OMIM:611911 ; xref: UNIPROTKB/SWISSPROT:Q9H1K1 ; xref: ENSEMBL:ENSG00000136003]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557
Gene [OrphaNum:118558 ; Name:Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa ; Symbol:SDHC ; xref: GENATLAS:SDHC ; xref: HGNC:10682 ; xref: OMIM:602413 ; xref: UNIPROTKB/SWISSPROT:Q99643 ; xref: ENSEMBL:ENSG00000143252 ; xref: REACTOME:Q99643]
Gene [OrphaNum:124154 ; Name:Platelet-derived growth factor receptor, alpha polypeptide ; Symbol:PDGFRA ; xref: GENATLAS:PDGFRA ; xref: HGNC:8803 ; xref: OMIM:173490 ; xref: UNIPROTKB/SWISSPROT:P16234 ; xref: ENSEMBL:ENSG00000134853 ; xref: REACTOME:P16234]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890
prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic;
Gene [OrphaNum:122862 ; Name:V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog ; Symbol:KIT ; xref: GENATLAS:KIT ; xref: HGNC:6342 ; xref: OMIM:164920 ; xref: UNIPROTKB/SWISSPROT:P10721 ; xref: REACTOME:P10721 ; xref: ENSEMBL:ENSG00000157404]
Congenital fibrosis of extraocular muscles
Gene [OrphaNum:122847 ; Name:Kinesin family member 21A ; Symbol:KIF21A ; xref: OMIM:608283 ; xref: UNIPROTKB/SWISSPROT:Q7Z4S6 ; xref: GENATLAS:KIF21A ; xref: HGNC:19349 ; xref: ENSEMBL:ENSG00000139116]
Gene [OrphaNum:226013 ; Name:Tubulin, beta 3 ; Symbol:TUBB3 ; xref: GENATLAS:TUBB3 ; xref: HGNC:20772 ; xref: OMIM:602661 ; xref: UNIPROTKB/SWISSPROT:Q13509 ; xref: ENSEMBL:ENSG00000198211 ; xref: REACTOME:Q13509]
Gene [OrphaNum:117799 ; Name:Paired-like homeobox 2a ; Symbol:PHOX2A ; xref: GENATLAS:PHOX2A ; xref: HGNC:691 ; xref: OMIM:602753 ; xref: UNIPROTKB/SWISSPROT:O14813 ; xref: ENSEMBL:ENSG00000165462]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:121246 ; Name:Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) ; Symbol:DYSF ; xref: GENATLAS:DYSF ; xref: HGNC:3097 ; xref: OMIM:603009 ; xref: UNIPROTKB/SWISSPROT:O75923 ; xref: ENSEMBL:ENSG00000135636]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null;
Gene [OrphaNum:120137 ; Name:Anoctamin 5 ; Symbol:ANO5 ; xref: HGNC:27337 ; xref: OMIM:608662 ; xref: GENATLAS:ANO5 ; xref: UNIPROTKB/SWISSPROT:Q75V66 ; xref: ENSEMBL:ENSG00000171714]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
X-linked cardioskeletal myopathy and neutropenia
Gene [OrphaNum:119930 ; Name:Tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ; Symbol:TAZ ; xref: GENATLAS:TAZ ; xref: HGNC:11577 ; xref: OMIM:300394 ; xref: UNIPROTKB/SWISSPROT:Q16635 ; xref: ENSEMBL:ENSG00000102125 ; xref: REACTOME:Q16635]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- X-linked recessive;
Gene [OrphaNum:118487 ; Name:Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like ; Symbol:SC5DL ; xref: GENATLAS:SC5DL ; xref: HGNC:10547 ; xref: OMIM:602286 ; xref: UNIPROTKB/SWISSPROT:O75845 ; xref: REACTOME:O75845 ; xref: ENSEMBL:ENSG00000109929]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Gene [OrphaNum:139145 ; Name:B-cell CLL/lymphoma 11A (zinc finger protein) ; Symbol:BCL11A ; xref: GENATLAS:BCL11A ; xref: HGNC:13221 ; xref: OMIM:606557 ; xref: UNIPROTKB/SWISSPROT:Q9H165 ; xref: ENSEMBL:ENSG00000119866]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532
Gene [OrphaNum:233184 ; Name:Hemoglobin, gamma A ; Symbol:HBG1 ; xref: ENSEMBL:ENSG00000213934 ; xref: REACTOME:P69891 ; xref: HGNC:4831 ; xref: GENATLAS:HBG1 ; xref: UNIPROTKB/SWISSPROT:P69891 ; xref: OMIM:142200]
Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871]
Gene [OrphaNum:233186 ; Name:Hemoglobin, gamma G ; Symbol:HBG2 ; xref: ENSEMBL:ENSG00000196565 ; xref: REACTOME:P69892 ; xref: HGNC:4832 ; xref: GENATLAS:HBG2 ; xref: UNIPROTKB/SWISSPROT:P69892 ; xref: OMIM:142250]
Gene [OrphaNum:240663 ; Name:Kruppel-like factor 1 (erythroid) ; Symbol:KLF1 ; xref: GENATLAS:KLF1 ; xref: HGNC:6345 ; xref: OMIM:600599 ; xref: UNIPROTKB/SWISSPROT:Q13351 ; xref: ENSEMBL:ENSG00000105610]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Gene [OrphaNum:120029 ; Name:Transcription factor AP-2 beta (activating enhancer binding protein 2 beta) ; Symbol:TFAP2B ; xref: GENATLAS:TFAP2B ; xref: HGNC:11743 ; xref: UNIPROTKB/SWISSPROT:Q92481 ; xref: OMIM:601601 ; xref: ENSEMBL:ENSG00000008196]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627
Primordial short stature - microdontia - opalescent and rootless teeth
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46658
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724
Gene [OrphaNum:123201 ; Name:Met proto-oncogene (hepatocyte growth factor receptor) ; Symbol:MET ; xref: ENSEMBL:ENSG00000105976 ; xref: REACTOME:P08581 ; xref: GENATLAS:MET ; xref: HGNC:7029 ; xref: OMIM:164860 ; xref: UNIPROTKB/SWISSPROT:P08581]
Gene [OrphaNum:120036 ; Name:Transcription factor binding to IGHM enhancer 3 ; Symbol:TFE3 ; xref: GENATLAS:TFE3 ; xref: HGNC:11752 ; xref: OMIM:314310 ; xref: UNIPROTKB/SWISSPROT:P19532 ; xref: ENSEMBL:ENSG00000068323]
prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Gene [OrphaNum:117989 ; Name:Papillary renal cell carcinoma (translocation-associated) ; Symbol:PRCC ; xref: GENATLAS:PRCC ; xref: HGNC:9343 ; xref: OMIM:179755 ; xref: UNIPROTKB/SWISSPROT:Q92733 ; xref: ENSEMBL:ENSG00000143294]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044
Gene [OrphaNum:123821 ; Name:NLR family, pyrin domain containing 3 ; Symbol:NLRP3 ; xref: GENATLAS:NLRP3 ; xref: HGNC:16400 ; xref: OMIM:606416 ; xref: UNIPROTKB/SWISSPROT:Q96P20 ; xref: ENSEMBL:ENSG00000162711 ; xref: REACTOME:Q96P20]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Familial pure proximal renal tubular acidosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null;
Gene [OrphaNum:138499 ; Name:CD96 molecule ; Symbol:CD96 ; xref: GENATLAS:CD96 ; xref: HGNC:16892 ; xref: OMIM:606037 ; xref: UNIPROTKB/SWISSPROT:P40200 ; xref: ENSEMBL:ENSG00000153283 ; xref: REACTOME:P40200]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308
Congenital cataracts - facial dysmorphism - neuropathy
Gene [OrphaNum:120873 ; Name:CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 ; Symbol:CTDP1 ; xref: GENATLAS:CTDP1 ; xref: HGNC:2498 ; xref: OMIM:604927 ; xref: UNIPROTKB/SWISSPROT:Q9Y5B0 ; xref: ENSEMBL:ENSG00000060069 ; xref: REACTOME:Q9Y5B0]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471
Gene [OrphaNum:118697 ; Name:SH3 and multiple ankyrin repeat domains 3 ; Symbol:SHANK3 ; xref: GENATLAS:SHANK3 ; xref: HGNC:14294 ; xref: OMIM:606230 ; xref: UNIPROTKB/SWISSPROT:Q9BYB0 ; xref: ENSEMBL:ENSG00000251322]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818
Gene [OrphaNum:120778 ; Name:Ceruloplasmin (ferroxidase) ; Symbol:CP ; xref: GENATLAS:CP ; xref: HGNC:2295 ; xref: OMIM:117700 ; xref: UNIPROTKB/SWISSPROT:P00450 ; xref: ENSEMBL:ENSG00000047457 ; xref: REACTOME:P00450]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal recessive;
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042
Gene [OrphaNum:120678 ; Name:Cyclic nucleotide gated channel beta 3 ; Symbol:CNGB3 ; xref: GENATLAS:CNGB3 ; xref: HGNC:2153 ; xref: OMIM:605080 ; xref: UNIPROTKB/SWISSPROT:Q9NQW8 ; xref: ENSEMBL:ENSG00000170289 ; xref: IUPHAR:399]
Gene [OrphaNum:118381 ; Name:Retinitis pigmentosa GTPase regulator ; Symbol:RPGR ; xref: GENATLAS:RPGR ; xref: HGNC:10295 ; xref: OMIM:312610 ; xref: UNIPROTKB/SWISSPROT:Q92834 ; xref: ENSEMBL:ENSG00000156313]
Gene [OrphaNum:120671 ; Name:Cyclic nucleotide gated channel alpha 3 ; Symbol:CNGA3 ; xref: ENSEMBL:ENSG00000144191 ; xref: GENATLAS:CNGA3 ; xref: HGNC:2150 ; xref: OMIM:600053 ; xref: UNIPROTKB/SWISSPROT:Q16281 ; xref: IUPHAR:396]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382
Gene [OrphaNum:208333 ; Name:Phosphodiesterase 6C, cGMP-specific, cone, alpha prime ; Symbol:PDE6C ; xref: ENSEMBL:ENSG00000095464 ; xref: GENATLAS:PDE6C ; xref: HGNC:8787 ; xref: OMIM:600827 ; xref: UNIPROTKB/SWISSPROT:P51160]
Gene [OrphaNum:122204 ; Name:Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 ; Symbol:GNAT2 ; xref: GENATLAS:GNAT2 ; xref: HGNC:4394 ; xref: OMIM:139340 ; xref: UNIPROTKB/SWISSPROT:P19087 ; xref: REACTOME:P19087 ; xref: ENSEMBL:ENSG00000134183]
Thiamine-responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827
Gene [OrphaNum:118762 ; Name:Solute carrier family 19 (thiamine transporter), member 2 ; Symbol:SLC19A2 ; xref: GENATLAS:SLC19A2 ; xref: HGNC:10938 ; xref: OMIM:603941 ; xref: UNIPROTKB/SWISSPROT:O60779 ; xref: ENSEMBL:ENSG00000117479 ; xref: REACTOME:O60779]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive;
Lipodystrophy - intellectual deficit - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Zellweger-like syndrome without peroxisomal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance;
Gene [OrphaNum:159556 ; Name:Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase ; Symbol:EHHADH ; xref: GENATLAS:EHHADH ; xref: HGNC:3247 ; xref: OMIM:607037 ; xref: UNIPROTKB/SWISSPROT:Q08426 ; xref: ENSEMBL:ENSG00000113790]
Gene [OrphaNum:118565 ; Name:Sec23 homolog A (S. cerevisiae) ; Symbol:SEC23A ; xref: GENATLAS:SEC23A ; xref: HGNC:10701 ; xref: OMIM:610511 ; xref: UNIPROTKB/SWISSPROT:Q15436 ; xref: ENSEMBL:ENSG00000100934 ; xref: REACTOME:Q15436]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815
Spondylometaphyseal dysplasia with combined immunodeficiency
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50816
Gene [OrphaNum:121196 ; Name:Desmoplakin ; Symbol:DSP ; xref: GENATLAS:DSP ; xref: HGNC:3052 ; xref: OMIM:125647 ; xref: UNIPROTKB/SWISSPROT:P15924 ; xref: ENSEMBL:ENSG00000096696 ; xref: REACTOME:P15924]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942
Gene [OrphaNum:122887 ; Name:Keratin 1 ; Symbol:KRT1 ; xref: GENATLAS:KRT1 ; xref: HGNC:6412 ; xref: OMIM:139350 ; xref: UNIPROTKB/SWISSPROT:P04264 ; xref: ENSEMBL:ENSG00000167768]
Gene [OrphaNum:121189 ; Name:Desmoglein 1 ; Symbol:DSG1 ; xref: GENATLAS:DSG1 ; xref: HGNC:3048 ; xref: OMIM:125670 ; xref: UNIPROTKB/SWISSPROT:Q02413 ; xref: REACTOME:Q02413 ; xref: ENSEMBL:ENSG00000134760]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943
Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis
Gene [OrphaNum:123345 ; Name:Wingless-type MMTV integration site family, member 10A ; Symbol:WNT10A ; xref: GENATLAS:WNT10A ; xref: HGNC:13829 ; xref: OMIM:606268 ; xref: UNIPROTKB/SWISSPROT:Q9GZT5 ; xref: REACTOME:Q9GZT5 ; xref: ENSEMBL:ENSG00000135925]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945
Gene [OrphaNum:122777 ; Name:Potassium voltage-gated channel, subfamily H (eag-related), member 2 ; Symbol:KCNH2 ; xref: GENATLAS:KCNH2 ; xref: HGNC:6251 ; xref: OMIM:152427 ; xref: UNIPROTKB/SWISSPROT:Q12809 ; xref: ENSEMBL:ENSG00000055118 ; xref: IUPHAR:572 ; xref: REACTOME:Q12809]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083
Gene [OrphaNum:300208 ; Name:Calcium channel, voltage-dependent, alpha 2/delta subunit 1 ; Symbol:CACNA2D1 ; xref: HGNC:1399 ; xref: OMIM:114204 ; xref: GENATLAS:CACNA2D1 ; xref: UNIPROTKB/SWISSPROT:P54289]
Gene [OrphaNum:122800 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 1 ; Symbol:KCNQ1 ; xref: GENATLAS:KCNQ1 ; xref: HGNC:6294 ; xref: OMIM:607542 ; xref: UNIPROTKB/SWISSPROT:P51787 ; xref: REACTOME:P51787 ; xref: IUPHAR:560 ; xref: ENSEMBL:ENSG00000053918]
Torsade-de-pointes syndrome with short coupling interval
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51084
Gene [OrphaNum:121629 ; Name:Ethylmalonic encephalopathy 1 ; Symbol:ETHE1 ; xref: GENATLAS:ETHE1 ; xref: HGNC:23287 ; xref: OMIM:608451 ; xref: UNIPROTKB/SWISSPROT:O95571 ; xref: REACTOME:O95571 ; xref: ENSEMBL:ENSG00000105755]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency
Gene [OrphaNum:121951 ; Name:Formiminotransferase cyclodeaminase ; Symbol:FTCD ; xref: GENATLAS:FTCD ; xref: HGNC:3974 ; xref: OMIM:606806 ; xref: UNIPROTKB/SWISSPROT:O95954 ; xref: ENSEMBL:ENSG00000160282 ; xref: REACTOME:O95954]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577
Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Gene [OrphaNum:121553 ; Name:Ectonucleotide pyrophosphatase/phosphodiesterase 1 ; Symbol:ENPP1 ; xref: GENATLAS:ENPP1 ; xref: HGNC:3356 ; xref: OMIM:173335 ; xref: UNIPROTKB/SWISSPROT:P22413 ; xref: ENSEMBL:ENSG00000197594 ; xref: REACTOME:P22413]
Gene [OrphaNum:117658 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ; Symbol:ABCC6 ; xref: GENATLAS:ABCC6 ; xref: HGNC:57 ; xref: OMIM:603234 ; xref: UNIPROTKB/SWISSPROT:O95255 ; xref: REACTOME:O95255 ; xref: ENSEMBL:ENSG00000091262]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636
Gene [OrphaNum:120914 ; Name:Chemokine (C-X-C motif) receptor 4 ; Symbol:CXCR4 ; xref: GENATLAS:CXCR4 ; xref: HGNC:2561 ; xref: OMIM:162643 ; xref: UNIPROTKB/SWISSPROT:P61073 ; xref: IUPHAR:71 ; xref: ENSEMBL:ENSG00000121966 ; xref: REACTOME:P61073]
Gene [OrphaNum:121648 ; Name:Exostoses (multiple) 2 ; Symbol:EXT2 ; xref: GENATLAS:EXT2 ; xref: HGNC:3513 ; xref: OMIM:608210 ; xref: UNIPROTKB/SWISSPROT:Q93063 ; xref: ENSEMBL:ENSG00000151348]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022
Gene [OrphaNum:119647 ; Name:Aristaless-like homeobox 4 ; Symbol:ALX4 ; xref: GENATLAS:ALX4 ; xref: HGNC:450 ; xref: OMIM:605420 ; xref: UNIPROTKB/SWISSPROT:Q9H161 ; xref: ENSEMBL:ENSG00000052850]
Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047
Craniosynostosis - intracranial calcifications
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055
Gene [OrphaNum:122584 ; Name:Immunoglobulin (CD79A) binding protein 1 ; Symbol:IGBP1 ; xref: GENATLAS:IGBP1 ; xref: HGNC:5461 ; xref: OMIM:300139 ; xref: UNIPROTKB/SWISSPROT:P78318 ; xref: ENSEMBL:ENSG00000089289]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056
Premature chromosome condensation with microcephaly and intellectual deficit
Gene [OrphaNum:123183 ; Name:Microcephaly, primary autosomal recessive 1 ; Symbol:MCPH1 ; xref: GENATLAS:MCPH1 ; xref: HGNC:6954 ; xref: OMIM:607117 ; xref: UNIPROTKB/SWISSPROT:Q8NEM0 ; xref: ENSEMBL:ENSG00000147316]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52183
Deafness - dystonia - optic neuronopathy syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368
Gene [OrphaNum:120107 ; Name:Translocase of inner mitochondrial membrane 8 homolog A (yeast) ; Symbol:TIMM8A ; xref: GENATLAS:TIMM8A ; xref: HGNC:11817 ; xref: OMIM:300356 ; xref: UNIPROTKB/SWISSPROT:O60220 ; xref: REACTOME:O60220 ; xref: ENSEMBL:ENSG00000126953]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive;
Gene [OrphaNum:118315 ; Name:Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) ; Symbol:RHO ; xref: GENATLAS:RHO ; xref: HGNC:10012 ; xref: OMIM:180380 ; xref: UNIPROTKB/SWISSPROT:P08100 ; xref: REACTOME:P08100 ; xref: ENSEMBL:ENSG00000163914]
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427
Gene [OrphaNum:118253 ; Name:Retinol dehydrogenase 5 (11-cis/9-cis) ; Symbol:RDH5 ; xref: GENATLAS:RDH5 ; xref: HGNC:9940 ; xref: OMIM:601617 ; xref: UNIPROTKB/SWISSPROT:Q92781 ; xref: ENSEMBL:ENSG00000135437]
Gene [OrphaNum:118326 ; Name:Retinaldehyde binding protein 1 ; Symbol:RLBP1 ; xref: GENATLAS:RLBP1 ; xref: HGNC:10024 ; xref: OMIM:180090 ; xref: UNIPROTKB/SWISSPROT:P12271 ; xref: ENSEMBL:ENSG00000140522]
Gene [OrphaNum:118070 ; Name:Peripherin 2 (retinal degeneration, slow) ; Symbol:PRPH2 ; xref: GENATLAS:PRPH2 ; xref: HGNC:9942 ; xref: OMIM:179605 ; xref: UNIPROTKB/SWISSPROT:P23942 ; xref: ENSEMBL:ENSG00000112619]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52428
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429
Gene [OrphaNum:121651 ; Name:Eyes absent homolog 1 (Drosophila) ; Symbol:EYA1 ; xref: GENATLAS:EYA1 ; xref: HGNC:3519 ; xref: OMIM:601653 ; xref: UNIPROTKB/SWISSPROT:Q99502 ; xref: ENSEMBL:ENSG00000104313]
Gene [OrphaNum:118723 ; Name:SIX homeobox 1 ; Symbol:SIX1 ; xref: GENATLAS:SIX1 ; xref: HGNC:10887 ; xref: OMIM:601205 ; xref: UNIPROTKB/SWISSPROT:Q15475 ; xref: ENSEMBL:ENSG00000126778]
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Limb-girdle muscular dystrophy with Paget disease of bone
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430
Gene [OrphaNum:120461 ; Name:Valosin-containing protein ; Symbol:VCP ; xref: GENATLAS:VCP ; xref: HGNC:12666 ; xref: OMIM:601023 ; xref: UNIPROTKB/SWISSPROT:P55072 ; xref: ENSEMBL:ENSG00000165280]
X-linked creatine transporter deficiency
X-linked intellectual deficit - seizures - short stature - midface hypoplasia
Gene [OrphaNum:119705 ; Name:Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ; Symbol:SLC6A8 ; xref: GENATLAS:SLC6A8 ; xref: HGNC:11055 ; xref: OMIM:300036 ; xref: UNIPROTKB/SWISSPROT:P48029 ; xref: REACTOME:P48029 ; xref: ENSEMBL:ENSG00000130821]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530
Gene [OrphaNum:122237 ; Name:Glycoprotein Ib (platelet), alpha polypeptide ; Symbol:GP1BA ; xref: GENATLAS:GP1BA ; xref: HGNC:4439 ; xref: OMIM:606672 ; xref: UNIPROTKB/SWISSPROT:P07359 ; xref: ENSEMBL:ENSG00000185245 ; xref: REACTOME:P07359]
Isolated follicle stimulating hormone deficiency
Gene [OrphaNum:121941 ; Name:Follicle stimulating hormone, beta polypeptide ; Symbol:FSHB ; xref: GENATLAS:FSHB ; xref: HGNC:3964 ; xref: OMIM:136530 ; xref: UNIPROTKB/SWISSPROT:P01225 ; xref: ENSEMBL:ENSG00000131808 ; xref: REACTOME:P01225]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null;
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347
Gene [OrphaNum:118840 ; Name:ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ; Symbol:ATP2A1 ; xref: GENATLAS:ATP2A1 ; xref: HGNC:811 ; xref: OMIM:108730 ; xref: UNIPROTKB/SWISSPROT:O14983 ; xref: ENSEMBL:ENSG00000196296 ; xref: REACTOME:O14983]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351
Gene [OrphaNum:139199 ; Name:TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa ; Symbol:TAF1 ; xref: GENATLAS:TAF1 ; xref: HGNC:11535 ; xref: OMIM:313650 ; xref: UNIPROTKB/SWISSPROT:P21675 ; xref: ENSEMBL:ENSG00000147133 ; xref: REACTOME:P21675]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372
Gene [OrphaNum:123912 ; Name:Nuclear receptor subfamily 2, group E, member 3 ; Symbol:NR2E3 ; xref: REACTOME:Q9Y5X4 ; xref: GENATLAS:NR2E3 ; xref: HGNC:7974 ; xref: OMIM:604485 ; xref: UNIPROTKB/SWISSPROT:Q9Y5X4 ; xref: IUPHAR:616 ; xref: ENSEMBL:ENSG00000031544]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583
Gene [OrphaNum:158410 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 1 ; Symbol:SLC2A1 ; xref: UNIPROTKB/SWISSPROT:P11166 ; xref: REACTOME:P11166 ; xref: GENATLAS:SLC2A1 ; xref: HGNC:11005 ; xref: OMIM:138140 ; xref: ENSEMBL:ENSG00000117394]
Progressive familial intrahepatic cholestasis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172
Gene [OrphaNum:118817 ; Name:Solute carrier family 26, member 3 ; Symbol:SLC26A3 ; xref: GENATLAS:SLC26A3 ; xref: HGNC:3018 ; xref: OMIM:126650 ; xref: UNIPROTKB/SWISSPROT:P40879 ; xref: ENSEMBL:ENSG00000091138 ; xref: REACTOME:P40879]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689
Gene [OrphaNum:123008 ; Name:Lactase ; Symbol:LCT ; xref: GENATLAS:LCT ; xref: HGNC:6530 ; xref: OMIM:603202 ; xref: UNIPROTKB/SWISSPROT:P09848 ; xref: ENSEMBL:ENSG00000115850 ; xref: REACTOME:P09848]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691
Gene [OrphaNum:122825 ; Name:Keratocan ; Symbol:KERA ; xref: GENATLAS:KERA ; xref: HGNC:6309 ; xref: OMIM:603288 ; xref: UNIPROTKB/SWISSPROT:O60938 ; xref: ENSEMBL:ENSG00000139330]
Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
Gene [OrphaNum:119021 ; Name:BCS1-like ; Symbol:BCS1L ; xref: GENATLAS:BCS1L ; xref: HGNC:1020 ; xref: OMIM:603647 ; xref: UNIPROTKB/SWISSPROT:Q9Y276 ; xref: ENSEMBL:ENSG00000074582 ; xref: REACTOME:Q9Y276]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693
Lethal arthrogryposis - anterior horn cell disease
Gene [OrphaNum:160257 ; Name:GLE1 RNA export mediator homolog ; Symbol:GLE1 ; xref: ENSEMBL:ENSG00000119392 ; xref: GENATLAS:GLE1 ; xref: HGNC:4315 ; xref: OMIM:603371 ; xref: UNIPROTKB/SWISSPROT:Q53GS7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697
Gene [OrphaNum:123621 ; Name:Myosin, heavy chain 7, cardiac muscle, beta ; Symbol:MYH7 ; xref: ENSEMBL:ENSG00000092054 ; xref: GENATLAS:MYH7 ; xref: HGNC:7577 ; xref: OMIM:160760 ; xref: UNIPROTKB/SWISSPROT:P12883]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698
Gene [OrphaNum:121800 ; Name:Fibroblast growth factor 23 ; Symbol:FGF23 ; xref: GENATLAS:FGF23 ; xref: HGNC:3680 ; xref: OMIM:605380 ; xref: UNIPROTKB/SWISSPROT:Q9GZV9 ; xref: REACTOME:Q9GZV9 ; xref: ENSEMBL:ENSG00000118972]
Gene [OrphaNum:118460 ; Name:Sterile alpha motif domain containing 9 ; Symbol:SAMD9 ; xref: GENATLAS:SAMD9 ; xref: HGNC:1348 ; xref: OMIM:610456 ; xref: UNIPROTKB/SWISSPROT:Q5K651 ; xref: ENSEMBL:ENSG00000205413]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715
Gene [OrphaNum:179419 ; Name:Klotho ; Symbol:KL ; xref: GENATLAS:KL ; xref: HGNC:6344 ; xref: OMIM:604824 ; xref: UNIPROTKB/SWISSPROT:Q9UEF7 ; xref: REACTOME:Q9UEF7 ; xref: ENSEMBL:ENSG00000133116]
Gene [OrphaNum:122006 ; Name:UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) ; Symbol:GALNT3 ; xref: GENATLAS:GALNT3 ; xref: HGNC:4125 ; xref: OMIM:601756 ; xref: UNIPROTKB/SWISSPROT:Q14435 ; xref: REACTOME:Q14435 ; xref: ENSEMBL:ENSG00000115339]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Cerebrofacial arteriovenous metameric syndrome type 2
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53739
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260
Gene [OrphaNum:121219 ; Name:Dystrobrevin, alpha ; Symbol:DTNA ; xref: GENATLAS:DTNA ; xref: HGNC:3057 ; xref: OMIM:601239 ; xref: UNIPROTKB/SWISSPROT:Q9Y4J8 ; xref: ENSEMBL:ENSG00000134769]
Gene [OrphaNum:120220 ; Name:Tropomyosin 1 (alpha) ; Symbol:TPM1 ; xref: GENATLAS:TPM1 ; xref: HGNC:12010 ; xref: OMIM:191010 ; xref: UNIPROTKB/SWISSPROT:P09493 ; xref: REACTOME:P09493 ; xref: ENSEMBL:ENSG00000140416]
Gene [OrphaNum:117753 ; Name:Actin, alpha, cardiac muscle 1 ; Symbol:ACTC1 ; xref: GENATLAS:ACTC1 ; xref: HGNC:143 ; xref: OMIM:102540 ; xref: UNIPROTKB/SWISSPROT:P68032 ; xref: ENSEMBL:ENSG00000159251 ; xref: REACTOME:P68032]
Gene [OrphaNum:123010 ; Name:LIM domain binding 3 ; Symbol:LDB3 ; xref: GENATLAS:LDB3 ; xref: HGNC:15710 ; xref: OMIM:605906 ; xref: UNIPROTKB/SWISSPROT:O75112 ; xref: ENSEMBL:ENSG00000122367]
Gene [OrphaNum:123595 ; Name:Myosin binding protein C, cardiac ; Symbol:MYBPC3 ; xref: GENATLAS:MYBPC3 ; xref: HGNC:7551 ; xref: OMIM:600958 ; xref: UNIPROTKB/SWISSPROT:Q14896 ; xref: ENSEMBL:ENSG00000134571 ; xref: REACTOME:Q14896]
Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545]
Gene [OrphaNum:120190 ; Name:Troponin T type 2 (cardiac) ; Symbol:TNNT2 ; xref: GENATLAS:TNNT2 ; xref: HGNC:11949 ; xref: OMIM:191045 ; xref: UNIPROTKB/SWISSPROT:P45379 ; xref: ENSEMBL:ENSG00000118194 ; xref: REACTOME:P45379]
Membranoproliferative glomerulonephritis
prevalence- 1-5 / 10 000; AgeOfOnset- null; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370
Gene [OrphaNum:119363 ; Name:Complement factor H ; Symbol:CFH ; xref: GENATLAS:CFH ; xref: HGNC:4883 ; xref: OMIM:134370 ; xref: UNIPROTKB/SWISSPROT:P08603 ; xref: REACTOME:P08603 ; xref: ENSEMBL:ENSG00000000971]
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595
Autosomal dominant limb-girdle muscular dystrophy type 1F
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595
Autosomal dominant limb-girdle muscular dystrophy type 1G
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438
Gene [OrphaNum:229796 ; Name:Adenomatosis polyposis coli down-regulated 1 ; Symbol:APCDD1 ; xref: ENSEMBL:ENSG00000154856 ; xref: HGNC:15718 ; xref: GENATLAS:APCDD1 ; xref: UNIPROTKB/SWISSPROT:Q8J025 ; xref: OMIM:607479]
Gene [OrphaNum:159333 ; Name:Lipase, member H ; Symbol:LIPH ; xref: GENATLAS:LIPH ; xref: HGNC:18483 ; xref: OMIM:607365 ; xref: UNIPROTKB/SWISSPROT:Q8WWY8 ; xref: ENSEMBL:ENSG00000163898]
Gene [OrphaNum:285488 ; Name:Ribosomal protein L21 ; Symbol:RPL21 ; xref: ENSEMBL:ENSG00000122026 ; xref: REACTOME:P46778 ; xref: GENATLAS:RPL21 ; xref: HGNC:10313 ; xref: UNIPROTKB/SWISSPROT:P46778 ; xref: OMIM:603636]
Gene [OrphaNum:159421 ; Name:Desmoglein 4 ; Symbol:DSG4 ; xref: GENATLAS:DSG4 ; xref: HGNC:21307 ; xref: OMIM:607892 ; xref: UNIPROTKB/SWISSPROT:Q86SJ6 ; xref: ENSEMBL:ENSG00000175065]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654
Gene [OrphaNum:159166 ; Name:Lysophosphatidic acid receptor 6 ; Symbol:LPAR6 ; xref: GENATLAS:P2RY5 ; xref: HGNC:15520 ; xref: OMIM:609239 ; xref: UNIPROTKB/SWISSPROT:P43657 ; xref: ENSEMBL:ENSG00000139679 ; xref: REACTOME:P43657 ; xref: IUPHAR:163]
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304
Gene [OrphaNum:118813 ; Name:Solute carrier family 26 (sulfate transporter), member 2 ; Symbol:SLC26A2 ; xref: GENATLAS:SLC26A2 ; xref: HGNC:10994 ; xref: OMIM:606718 ; xref: UNIPROTKB/SWISSPROT:P50443 ; xref: ENSEMBL:ENSG00000155850 ; xref: REACTOME:P50443]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305
Gene [OrphaNum:121860 ; Name:Filamin B, beta (actin binding protein 278) ; Symbol:FLNB ; xref: GENATLAS:FLNB ; xref: HGNC:3755 ; xref: OMIM:603381 ; xref: UNIPROTKB/SWISSPROT:O75369 ; xref: ENSEMBL:ENSG00000136068 ; xref: REACTOME:O75369]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant;
Progressive bulbar paralysis of childhood
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56965
Gene [OrphaNum:227053 ; Name:Solute carrier family 52, riboflavin transporter, member 3 ; Symbol:SLC52A3 ; xref: ENSEMBL:ENSG00000101276 ; xref: HGNC:16187 ; xref: GENATLAS:C20orf54 ; xref: OMIM:613350 ; xref: UNIPROTKB/SWISSPROT:Q9NQ40]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439
Condensing osteitis of the medial clavicle
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782
Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Gene [OrphaNum:120112 ; Name:TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory) ; Symbol:TIMP3 ; xref: GENATLAS:TIMP3 ; xref: HGNC:11822 ; xref: OMIM:188826 ; xref: UNIPROTKB/SWISSPROT:P35625 ; xref: ENSEMBL:ENSG00000100234]
Ichthyosis - hypotrichosis - sclerosing cholangitis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303
Gene [OrphaNum:119470 ; Name:Claudin 1 ; Symbol:CLDN1 ; xref: GENATLAS:CLDN1 ; xref: HGNC:2032 ; xref: OMIM:603718 ; xref: UNIPROTKB/SWISSPROT:O95832 ; xref: REACTOME:O95832 ; xref: ENSEMBL:ENSG00000163347]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59305
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306
Gene [OrphaNum:120562 ; Name:X-linked Kx blood group (McLeod syndrome) ; Symbol:XK ; xref: ENSEMBL:ENSG00000047597 ; xref: GENATLAS:XK ; xref: HGNC:12811 ; xref: OMIM:314850 ; xref: UNIPROTKB/SWISSPROT:P51811]
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive;
Gene [OrphaNum:123500 ; Name:Msh homeobox 2 ; Symbol:MSX2 ; xref: GENATLAS:MSX2 ; xref: HGNC:7392 ; xref: OMIM:123101 ; xref: UNIPROTKB/SWISSPROT:P35548 ; xref: ENSEMBL:ENSG00000120149]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025
Gene [OrphaNum:118831 ; Name:Solute carrier family 34 (sodium phosphate), member 2 ; Symbol:SLC34A2 ; xref: GENATLAS:SLC34A2 ; xref: HGNC:11020 ; xref: OMIM:604217 ; xref: UNIPROTKB/SWISSPROT:O95436 ; xref: ENSEMBL:ENSG00000157765 ; xref: REACTOME:O95436]
Aortic aneurysm syndrome due to TGFbêta receptors anomalies
Gene [OrphaNum:120069 ; Name:Transforming growth factor, beta receptor II (70/80kDa) ; Symbol:TGFBR2 ; xref: GENATLAS:TGFBR2 ; xref: HGNC:11773 ; xref: OMIM:190182 ; xref: UNIPROTKB/SWISSPROT:P37173 ; xref: ENSEMBL:ENSG00000163513 ; xref: REACTOME:P37173]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030
Gene [OrphaNum:120065 ; Name:Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ; Symbol:TGFBR1 ; xref: GENATLAS:TGFBR1 ; xref: HGNC:11772 ; xref: OMIM:190181 ; xref: UNIPROTKB/SWISSPROT:P36897 ; xref: REACTOME:P36897 ; xref: ENSEMBL:ENSG00000106799]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448
Macrocephaly - cutis marmorata telangiectatica congenita
Megalencephaly - cutis marmorata telangiectatica congenita
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Gene [OrphaNum:120255 ; Name:Three prime repair exonuclease 1 ; Symbol:TREX1 ; xref: GENATLAS:TREX1 ; xref: HGNC:12269 ; xref: OMIM:606609 ; xref: UNIPROTKB/SWISSPROT:Q9NSU2 ; xref: ENSEMBL:ENSG00000213689]
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63261
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis
Gene [OrphaNum:117944 ; Name:P450 (cytochrome) oxidoreductase ; Symbol:POR ; xref: GENATLAS:POR ; xref: HGNC:9208 ; xref: OMIM:124015 ; xref: UNIPROTKB/SWISSPROT:P16435 ; xref: ENSEMBL:ENSG00000127948]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:138820 ; Name:Motor neuron and pancreas homeobox 1 ; Symbol:MNX1 ; xref: GENATLAS:MNX1 ; xref: HGNC:4979 ; xref: OMIM:142994 ; xref: UNIPROTKB/SWISSPROT:P50219 ; xref: ENSEMBL:ENSG00000130675]
Distal myopathy with posterior leg and anterior hand involvement
Gene [OrphaNum:121867 ; Name:Filamin C, gamma (actin binding protein 280) ; Symbol:FLNC ; xref: GENATLAS:FLNC ; xref: HGNC:3756 ; xref: OMIM:102565 ; xref: UNIPROTKB/SWISSPROT:Q14315 ; xref: ENSEMBL:ENSG00000128591 ; xref: REACTOME:Q14315]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63440
Angel-shaped phalango-epiphyseal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446
Gene [OrphaNum:122605 ; Name:Indian hedgehog homolog (Drosophila) ; Symbol:IHH ; xref: ENSEMBL:ENSG00000163501 ; xref: REACTOME:Q14623 ; xref: GENATLAS:IHH ; xref: HGNC:5956 ; xref: OMIM:600726 ; xref: UNIPROTKB/SWISSPROT:Q14623]
Patterned dystrophy of the retinal pigment epithelium
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63454
Gene [OrphaNum:286549 ; Name:Calcium channel, voltage-dependent, T type, alpha 1H subunit ; Symbol:CACNA1H ; xref: REACTOME:O95180 ; xref: HGNC:1395 ; xref: OMIM:607904 ; xref: GENATLAS:CACNA1H ; xref: UNIPROTKB/SWISSPROT:O95180 ; xref: ENSEMBL:ENSG00000196557]
Gene [OrphaNum:159621 ; Name:Gamma-aminobutyric acid (GABA) A receptor, beta 3 ; Symbol:GABRB3 ; xref: GENATLAS:GABRB3 ; xref: HGNC:4083 ; xref: OMIM:137192 ; xref: UNIPROTKB/SWISSPROT:P28472 ; xref: IUPHAR:412 ; xref: ENSEMBL:ENSG00000166206 ; xref: REACTOME:P28472]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280
Autosomal recessive acrofacial dysostosis
Acrofacial dysostosis, Kennedy-Teebi type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64545
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64686
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580
Autosomal dominant Charcot-Marie-Tooth disease type 2
Autosomal dominant axonal Charcot-Marie-Tooth disease
Hereditarymotor and sensoryneuropathy type 2
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64746
prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747
Hereditary motor and sensory neuropathy type 3
Gene [OrphaNum:121314 ; Name:Early growth response 2 (Krox-20 homolog, Drosophila) ; Symbol:EGR2 ; xref: GENATLAS:EGR2 ; xref: HGNC:3239 ; xref: OMIM:129010 ; xref: UNIPROTKB/SWISSPROT:P11161 ; xref: ENSEMBL:ENSG00000122877 ; xref: REACTOME:P11161]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748
Gene [OrphaNum:117908 ; Name:Peripheral myelin protein 22 ; Symbol:PMP22 ; xref: GENATLAS:PMP22 ; xref: HGNC:9118 ; xref: OMIM:601097 ; xref: UNIPROTKB/SWISSPROT:Q01453 ; xref: ENSEMBL:ENSG00000109099]
Gene [OrphaNum:123473 ; Name:Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) ; Symbol:MPZ ; xref: GENATLAS:MPZ ; xref: HGNC:7225 ; xref: OMIM:159440 ; xref: UNIPROTKB/SWISSPROT:P25189 ; xref: ENSEMBL:ENSG00000158887]
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Autosomal recessive demyelinating Charcot-Marie-Tooth
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64749
Hereditary motor and sensory neuropathy type 5
Charcot-Marie-Tooth disease - pyramidal features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751
prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null;
Gene [OrphaNum:123207 ; Name:Mitofusin 2 ; Symbol:MFN2 ; xref: GENATLAS:MFN2 ; xref: HGNC:16877 ; xref: OMIM:608507 ; xref: UNIPROTKB/SWISSPROT:O95140 ; xref: REACTOME:O95140 ; xref: ENSEMBL:ENSG00000116688]
Hereditary sensory and autonomic neuropathy type 5
Congenital insensitivity to pain and thermal analgesia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752
Gene [OrphaNum:123961 ; Name:Neurotrophic tyrosine kinase, receptor, type 1 ; Symbol:NTRK1 ; xref: GENATLAS:NTRK1 ; xref: HGNC:8031 ; xref: OMIM:191315 ; xref: UNIPROTKB/SWISSPROT:P04629 ; xref: ENSEMBL:ENSG00000198400 ; xref: REACTOME:P04629]
Gene [OrphaNum:123777 ; Name:Nerve growth factor, beta polypeptide ; Symbol:NGF ; xref: GENATLAS:NGF ; xref: HGNC:7808 ; xref: OMIM:162030 ; xref: UNIPROTKB/SWISSPROT:P01138 ; xref: ENSEMBL:ENSG00000134259 ; xref: REACTOME:P01138]
Spinocerebellar ataxia with axonal neuropathy type 2
Gene [OrphaNum:300201 ; Name:Phosphoinositide-3-kinase, regulatory subunit 5 ; Symbol:PIK3R5 ; xref: HGNC:30035 ; xref: OMIM:611317 ; xref: UNIPROTKB/SWISSPROT:Q8WYR1]
Gene [OrphaNum:118627 ; Name:Senataxin ; Symbol:SETX ; xref: GENATLAS:SETX ; xref: HGNC:445 ; xref: OMIM:608465 ; xref: UNIPROTKB/SWISSPROT:Q7Z333 ; xref: ENSEMBL:ENSG00000107290]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581
Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy
Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283
Gene [OrphaNum:119140 ; Name:Calcium channel, voltage-dependent, L type, alpha 1C subunit ; Symbol:CACNA1C ; xref: GENATLAS:CACNA1C ; xref: HGNC:1390 ; xref: OMIM:114205 ; xref: UNIPROTKB/SWISSPROT:Q13936 ; xref: ENSEMBL:ENSG00000151067 ; xref: REACTOME:Q13936 ; xref: IUPHAR:529]
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284
Gene [OrphaNum:118766 ; Name:Solute carrier family 19, member 3 ; Symbol:SLC19A3 ; xref: GENATLAS:SLC19A3 ; xref: HGNC:16266 ; xref: OMIM:606152 ; xref: UNIPROTKB/SWISSPROT:Q9BZV2 ; xref: ENSEMBL:ENSG00000135917 ; xref: REACTOME:Q9BZV2]
Dysplastic gangliocytoma of the cerebellum
Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287
Gene [OrphaNum:120426 ; Name:Ureidopropionase, beta ; Symbol:UPB1 ; xref: GENATLAS:UPB1 ; xref: HGNC:16297 ; xref: OMIM:606673 ; xref: UNIPROTKB/SWISSPROT:Q9UBR1 ; xref: REACTOME:Q9UBR1 ; xref: ENSEMBL:ENSG00000100024]
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Gene [OrphaNum:118135 ; Name:Pancreas specific transcription factor, 1a ; Symbol:PTF1A ; xref: GENATLAS:PTF1A ; xref: HGNC:23734 ; xref: OMIM:607194 ; xref: UNIPROTKB/SWISSPROT:Q7RTS3 ; xref: ENSEMBL:ENSG00000168267 ; xref: REACTOME:Q7RTS3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681
Benign recurrent intrahepatic cholestasis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683
Gene [OrphaNum:120309 ; Name:Tuberous sclerosis 1 ; Symbol:TSC1 ; xref: GENATLAS:TSC1 ; xref: HGNC:12362 ; xref: OMIM:605284 ; xref: UNIPROTKB/SWISSPROT:Q92574 ; xref: ENSEMBL:ENSG00000165699 ; xref: REACTOME:Q92574]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720
Autosomal dominant multiple pterygium syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Multiple keratoacanthoma, Ferguson-Smith type
Multiple self-healing squamous epithelioma
Self-healing squamous epithelioma type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Autosomal dominant demyelinating Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753
Gene [OrphaNum:123373 ; Name:RAB23, member RAS oncogene family ; Symbol:RAB23 ; xref: GENATLAS:RAB23 ; xref: HGNC:14263 ; xref: OMIM:606144 ; xref: UNIPROTKB/SWISSPROT:Q9ULC3 ; xref: ENSEMBL:ENSG00000112210]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65798
Short fifth metacarpals - insulin resistance
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625
Obesity due to congenital leptin deficiency
Gene [OrphaNum:123034 ; Name:Leptin (obesity homolog, mouse) ; Symbol:LEP ; xref: GENATLAS:LEP ; xref: HGNC:6553 ; xref: OMIM:164160 ; xref: UNIPROTKB/SWISSPROT:P41159 ; xref: ENSEMBL:ENSG00000174697 ; xref: REACTOME:P41159]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629
Gene [OrphaNum:122834 ; Name:KIAA1279 ; Symbol:KIAA1279 ; xref: GENATLAS:KIAA1279 ; xref: HGNC:23419 ; xref: OMIM:609367 ; xref: UNIPROTKB/SWISSPROT:Q96EK5 ; xref: ENSEMBL:ENSG00000198954]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630
Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Gene [OrphaNum:119761 ; Name:Synaptosomal-associated protein, 29kDa ; Symbol:SNAP29 ; xref: GENATLAS:SNAP29 ; xref: HGNC:11133 ; xref: OMIM:604202 ; xref: UNIPROTKB/SWISSPROT:O95721 ; xref: ENSEMBL:ENSG00000099940]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631
Sensorineural hearing loss - early greying - essential tremor
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634
Gene [OrphaNum:168069 ; Name:DnaJ (Hsp40) homolog, subfamily C, member 19 ; Symbol:DNAJC19 ; xref: GENATLAS:DNAJC19 ; xref: HGNC:30528 ; xref: OMIM:608977 ; xref: UNIPROTKB/SWISSPROT:Q96DA6 ; xref: ENSEMBL:ENSG00000205981 ; xref: REACTOME:Q96DA6]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637
Gene [OrphaNum:244395 ; Name:BMP binding endothelial regulator ; Symbol:BMPER ; xref: GENATLAS:BMPER ; xref: HGNC:24154 ; xref: OMIM:608699 ; xref: UNIPROTKB/SWISSPROT:Q8N8U9 ; xref: ENSEMBL:ENSG00000164619]
Autosomal dominant optic atrophy and cataract
Gene [OrphaNum:124003 ; Name:Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) ; Symbol:OPA3 ; xref: HGNC:8142 ; xref: OMIM:606580 ; xref: UNIPROTKB/SWISSPROT:Q9H6K4 ; xref: GENATLAS:OPA3 ; xref: ENSEMBL:ENSG00000125741]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67039
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown;
Gene [OrphaNum:122556 ; Name:Hyaluronoglucosaminidase 1 ; Symbol:HYAL1 ; xref: GENATLAS:HYAL1 ; xref: HGNC:5320 ; xref: OMIM:607071 ; xref: UNIPROTKB/SWISSPROT:Q12794 ; xref: ENSEMBL:ENSG00000114378]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Autosomal dominant late-onset retinal degeneration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042
Gene [OrphaNum:138575 ; Name:C1q and tumor necrosis factor related protein 5 ; Symbol:C1QTNF5 ; xref: GENATLAS:C1QTNF5 ; xref: HGNC:14344 ; xref: OMIM:608752 ; xref: UNIPROTKB/SWISSPROT:Q9BXJ0 ; xref: ENSEMBL:ENSG00000223953]
Dyserythropoietic anemia with thrombocytopenia
X-linked dyserythropoietic anemia and thrombocytopenia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive;
Gene [OrphaNum:122028 ; Name:GATA binding protein 1 (globin transcription factor 1) ; Symbol:GATA1 ; xref: GENATLAS:GATA1 ; xref: HGNC:4170 ; xref: OMIM:305371 ; xref: UNIPROTKB/SWISSPROT:P15976 ; xref: ENSEMBL:ENSG00000102145 ; xref: REACTOME:P15976]
X-linked intellectual deficit with isolated growth hormone deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive;
Gene [OrphaNum:138386 ; Name:SRY (sex determining region Y)-box 3 ; Symbol:SOX3 ; xref: GENATLAS:SOX3 ; xref: HGNC:11199 ; xref: OMIM:313430 ; xref: UNIPROTKB/SWISSPROT:P41225 ; xref: ENSEMBL:ENSG00000134595]
3-methylglutaconyl-CoA hydratase deficiency
Gene [OrphaNum:118941 ; Name:AU RNA binding protein/enoyl-Coenzyme A hydratase ; Symbol:AUH ; xref: GENATLAS:AUH ; xref: HGNC:890 ; xref: OMIM:600529 ; xref: UNIPROTKB/SWISSPROT:Q13825 ; xref: ENSEMBL:ENSG00000148090 ; xref: REACTOME:Q13825]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046
Autosomal recessive optic atrophy type 3
Infantile optic atrophy with chorea and spastic paraplegia
Gene [OrphaNum:159467 ; Name:Zinc finger protein 90 homolog (mouse) ; Symbol:ZFP90 ; xref: GENATLAS:ZFP90 ; xref: HGNC:23329 ; xref: OMIM:609451 ; xref: UNIPROTKB/SWISSPROT:Q8TF47 ; xref: REACTOME:Q8TF47 ; xref: ENSEMBL:ENSG00000184939]
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028
Idiopathic steroid-sensitive nephrotic syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown;
Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunisation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076
Gene [OrphaNum:119697 ; Name:Solute carrier family 5 (sodium/glucose cotransporter), member 2 ; Symbol:SLC5A2 ; xref: GENATLAS:SLC5A2 ; xref: HGNC:11037 ; xref: OMIM:182381 ; xref: UNIPROTKB/SWISSPROT:P31639 ; xref: REACTOME:P31639 ; xref: ENSEMBL:ENSG00000140675]
Odonto-tricho-ungual-digito-palmar syndrome
Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082
Ectodermal dysplasia with natal teeth, Turnpenny type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083
Gene [OrphaNum:122936 ; Name:Keratin 85 ; Symbol:KRT85 ; xref: GENATLAS:KRT85 ; xref: HGNC:6462 ; xref: OMIM:602767 ; xref: UNIPROTKB/SWISSPROT:P78386 ; xref: ENSEMBL:ENSG00000135443]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:120207 ; Name:Tumor Protein p63 ; Symbol:TP63 ; xref: OMIM:603273 ; xref: UNIPROTKB/SWISSPROT:Q9H3D4 ; xref: GENATLAS:TP63 ; xref: HGNC:15979 ; xref: ENSEMBL:ENSG00000073282]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590
Ectodermal dysplasia - skin fragility syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69086
Gene [OrphaNum:117868 ; Name:Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) ; Symbol:PKP1 ; xref: GENATLAS:PKP1 ; xref: HGNC:9023 ; xref: OMIM:601975 ; xref: UNIPROTKB/SWISSPROT:Q13835 ; xref: ENSEMBL:ENSG00000081277 ; xref: REACTOME:Q13835]
Naegeli-Franceschetti-Jadassohn syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Gene [OrphaNum:122897 ; Name:Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ; Symbol:KRT14 ; xref: GENATLAS:KRT14 ; xref: HGNC:6416 ; xref: OMIM:148066 ; xref: UNIPROTKB/SWISSPROT:P02533 ; xref: REACTOME:P02533 ; xref: ENSEMBL:ENSG00000186847]
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Gene [OrphaNum:122614 ; Name:Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma ; Symbol:IKBKG ; xref: ENSEMBL:ENSG00000073009 ; xref: REACTOME:Q9Y6K9 ; xref: UNIPROTKB/SWISSPROT:Q9Y6K9 ; xref: GENATLAS:IKBKG ; xref: HGNC:5961 ; xref: OMIM:300248]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Pyogenic arthritis - pyoderma gangrenosum - acne
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126
Gene [OrphaNum:118114 ; Name:Proline-serine-threonine phosphatase interacting protein 1 ; Symbol:PSTPIP1 ; xref: GENATLAS:PSTPIP1 ; xref: HGNC:9580 ; xref: OMIM:606347 ; xref: UNIPROTKB/SWISSPROT:O43586 ; xref: ENSEMBL:ENSG00000140368 ; xref: REACTOME:O43586]
Low phospholipid associated cholelithiasis
ABCB4 gene mutation-associated cholelithiasis
Gene [OrphaNum:117639 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 4 ; Symbol:ABCB4 ; xref: GENATLAS:ABCB4 ; xref: HGNC:45 ; xref: OMIM:171060 ; xref: UNIPROTKB/SWISSPROT:P21439 ; xref: REACTOME:P21439 ; xref: ENSEMBL:ENSG00000005471]
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663
Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Gene [OrphaNum:122470 ; Name:4-hydroxyphenylpyruvate dioxygenase ; Symbol:HPD ; xref: GENATLAS:HPD ; xref: HGNC:5147 ; xref: OMIM:609695 ; xref: UNIPROTKB/SWISSPROT:P32754 ; xref: REACTOME:P32754 ; xref: ENSEMBL:ENSG00000158104]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723
Hypotrichosis - lymphedema - telangiectasia
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735
Gene [OrphaNum:119788 ; Name:SRY (sex determining region Y)-box 18 ; Symbol:SOX18 ; xref: GENATLAS:SOX18 ; xref: HGNC:11194 ; xref: OMIM:601618 ; xref: UNIPROTKB/SWISSPROT:P35713 ; xref: ENSEMBL:ENSG00000203883]
Gene [OrphaNum:123364 ; Name:homeobox A1 ; Symbol:HOXA1 ; xref: GENATLAS:HOXA1 ; xref: HGNC:5099 ; xref: OMIM:142955 ; xref: UNIPROTKB/SWISSPROT:P49639 ; xref: ENSEMBL:ENSG00000105991]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737
Athabaskan brainstem dysgenesis syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70470
Gene [OrphaNum:123112 ; Name:Lipoprotein lipase ; Symbol:LPL ; xref: GENATLAS:LPL ; xref: HGNC:6677 ; xref: OMIM:609708 ; xref: UNIPROTKB/SWISSPROT:P06858 ; xref: ENSEMBL:ENSG00000175445 ; xref: REACTOME:P06858]
Gene [OrphaNum:121382 ; Name:Apolipoprotein A-V ; Symbol:APOA5 ; xref: GENATLAS:APOA5 ; xref: HGNC:17288 ; xref: OMIM:606368 ; xref: UNIPROTKB/SWISSPROT:Q6Q788 ; xref: ENSEMBL:ENSG00000110243 ; xref: REACTOME:Q6Q788]
Gene [OrphaNum:201108 ; Name:Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ; Symbol:GPIHBP1 ; xref: GENATLAS:GPIHBP1 ; xref: HGNC:24945 ; xref: OMIM:612757 ; xref: UNIPROTKB/SWISSPROT:Q8IV16 ; xref: ENSEMBL:ENSG00000182851]
Saguenay-Lac-St. Jean cytochrome oxidase deficiency
French-Canadian type Cytochrome C oxidase deficiency
Saguenay-Lac-St. Jean type Leigh syndrome
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Gene [OrphaNum:123124 ; Name:Leucine-rich PPR-motif containing ; Symbol:LRPPRC ; xref: GENATLAS:LRPPRC ; xref: HGNC:15714 ; xref: OMIM:607544 ; xref: UNIPROTKB/SWISSPROT:P42704 ; xref: ENSEMBL:ENSG00000138095]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472
Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
Cardiomyopathy with myopathy due to COX deficiency
Gene [OrphaNum:242929 ; Name:Chromosome 12 open reading frame 65 ; Symbol:C12ORF65 ; xref: ENSEMBL:ENSG00000130921 ; xref: GENATLAS:C12orf65 ; xref: HGNC:26784 ; xref: UNIPROTKB/SWISSPROT:Q9H3J6 ; xref: OMIM:613541]
Gene [OrphaNum:167892 ; Name:Cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) ; Symbol:COX6B1 ; xref: GENATLAS:COX6B1 ; xref: HGNC:2280 ; xref: OMIM:124089 ; xref: UNIPROTKB/SWISSPROT:P14854 ; xref: ENSEMBL:ENSG00000126267 ; xref: REACTOME:P14854]
Gene [OrphaNum:119904 ; Name:Surfeit 1 ; Symbol:SURF1 ; xref: GENATLAS:SURF1 ; xref: HGNC:11474 ; xref: OMIM:185620 ; xref: UNIPROTKB/SWISSPROT:Q15526 ; xref: ENSEMBL:ENSG00000148290]
Gene [OrphaNum:120776 ; Name:COX15 homolog, cytochrome c oxidase assembly protein (yeast) ; Symbol:COX15 ; xref: GENATLAS:COX15 ; xref: HGNC:2263 ; xref: OMIM:603646 ; xref: UNIPROTKB/SWISSPROT:Q7KZN9 ; xref: ENSEMBL:ENSG00000014919]
Gene [OrphaNum:267102 ; Name:cytochrome C oxidase assembly factor 5 ; Symbol:COA5 ; xref: UNIPROTKB/SWISSPROT:Q86WW8 ; xref: ENSEMBL:ENSG00000183513 ; xref: HGNC:33848 ; xref: OMIM:613920]
Gene [OrphaNum:201567 ; Name:Translational activator of mitochondrially encoded cytochrome c oxidase I ; Symbol:TACO1 ; xref: ENSEMBL:ENSG00000136463 ; xref: GENATLAS:CCDC44 ; xref: HGNC:24316 ; xref: UNIPROTKB/SWISSPROT:Q9BSH4 ; xref: OMIM:612958]
Gene [OrphaNum:120774 ; Name:COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) ; Symbol:COX10 ; xref: GENATLAS:COX10 ; xref: HGNC:2260 ; xref: OMIM:602125 ; xref: UNIPROTKB/SWISSPROT:Q12887 ; xref: ENSEMBL:ENSG00000006695]
Gene [OrphaNum:124161 ; Name:Pyruvate dehydrogenase (lipoamide) alpha 1 ; Symbol:PDHA1 ; xref: GENATLAS:PDHA1 ; xref: HGNC:8806 ; xref: OMIM:300502 ; xref: UNIPROTKB/SWISSPROT:P08559 ; xref: ENSEMBL:ENSG00000131828 ; xref: REACTOME:P08559]
Gene [OrphaNum:118546 ; Name:SCO cytochrome oxidase deficient homolog 2 (yeast) ; Symbol:SCO2 ; xref: GENATLAS:SCO2 ; xref: HGNC:10604 ; xref: OMIM:604272 ; xref: UNIPROTKB/SWISSPROT:O43819 ; xref: ENSEMBL:ENSG00000130489]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70474
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic;
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Gene [OrphaNum:122674 ; Name:Interleukin-1 receptor-associated kinase 4 ; Symbol:IRAK4 ; xref: GENATLAS:IRAK4 ; xref: HGNC:17967 ; xref: OMIM:606883 ; xref: UNIPROTKB/SWISSPROT:Q9NWZ3 ; xref: ENSEMBL:ENSG00000198001 ; xref: REACTOME:Q9NWZ3]
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70593
Dopa responsive dystonia due to sepiapterin reductase deficiency
Gene [OrphaNum:119844 ; Name:Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) ; Symbol:SPR ; xref: HGNC:11257 ; xref: OMIM:182125 ; xref: UNIPROTKB/SWISSPROT:P35270 ; xref: GENATLAS:SPR ; xref: REACTOME:P35270 ; xref: ENSEMBL:ENSG00000116096]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:117925 ; Name:Polymerase (DNA directed), gamma ; Symbol:POLG ; xref: GENATLAS:POLG ; xref: HGNC:9179 ; xref: OMIM:174763 ; xref: UNIPROTKB/SWISSPROT:P54098 ; xref: ENSEMBL:ENSG00000140521]
Rare hemorrhagic disorder due to a constitutional platelet anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71202
Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinism due to short-chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212
Gene [OrphaNum:122356 ; Name:Hydroxyacyl-Coenzyme A dehydrogenase ; Symbol:HADH ; xref: REACTOME:Q16836 ; xref: GENATLAS:HADH ; xref: HGNC:4799 ; xref: OMIM:601609 ; xref: UNIPROTKB/SWISSPROT:Q16836 ; xref: ENSEMBL:ENSG00000138796]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71270
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Gene [OrphaNum:291751 ; Name:Distal-less homeobox 5 ; Symbol:DLX5 ; xref: HGNC:2918 ; xref: OMIM:600028 ; xref: GENATLAS:DLX5 ; xref: UNIPROTKB/SWISSPROT:P56178 ; xref: ENSEMBL:ENSG00000105880]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Unknown;
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275
Gene [OrphaNum:118307 ; Name:Rh-associated glycoprotein ; Symbol:RHAG ; xref: GENATLAS:RHAG ; xref: HGNC:10006 ; xref: OMIM:180297 ; xref: UNIPROTKB/SWISSPROT:Q02094 ; xref: ENSEMBL:ENSG00000112077 ; xref: REACTOME:Q02094]
prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:286217 ; Name:Rh blood group, D antigen ; Symbol:RHD ; xref: GENATLAS:RHD ; xref: HGNC:10009 ; xref: OMIM:111680 ; xref: UNIPROTKB/SWISSPROT:Q02161 ; xref: ENSEMBL:ENSG00000187010]
Gene [OrphaNum:118311 ; Name:Rh blood group, CcEe antigens ; Symbol:RHCE ; xref: GENATLAS:RHCE ; xref: HGNC:10008 ; xref: OMIM:111700 ; xref: UNIPROTKB/SWISSPROT:P18577 ; xref: ENSEMBL:ENSG00000188672]
Glucose transporter type 1 deficiency syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Gene [OrphaNum:120884 ; Name:Cystinosis, nephropathic ; Symbol:CTNS ; xref: GENATLAS:CTNS ; xref: HGNC:2518 ; xref: OMIM:606272 ; xref: UNIPROTKB/SWISSPROT:O60931 ; xref: ENSEMBL:ENSG00000040531]
Coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary problems, ear abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
Gene [OrphaNum:118590 ; Name:Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E ; Symbol:SEMA3E ; xref: GENATLAS:SEMA3E ; xref: HGNC:10727 ; xref: OMIM:608166 ; xref: UNIPROTKB/SWISSPROT:O15041 ; xref: ENSEMBL:ENSG00000170381 ; xref: REACTOME:O15041]
Gene [OrphaNum:119389 ; Name:Chromodomain helicase DNA binding protein 7 ; Symbol:CHD7 ; xref: GENATLAS:CHD7 ; xref: HGNC:20626 ; xref: OMIM:608892 ; xref: UNIPROTKB/SWISSPROT:Q9P2D1 ; xref: ENSEMBL:ENSG00000171316]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal dominant;
Congenital brain dysgenesis due to glutamine synthetase deficiency
Gene [OrphaNum:168083 ; Name:Glutamate-ammonia ligase (glutamine synthetase) ; Symbol:GLUL ; xref: GENATLAS:GLUL ; xref: HGNC:4341 ; xref: OMIM:138290 ; xref: UNIPROTKB/SWISSPROT:P15104 ; xref: ENSEMBL:ENSG00000135821 ; xref: REACTOME:P15104]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available;
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Gene [OrphaNum:123347 ; Name:homeobox A11 ; Symbol:HOXA11 ; xref: GENATLAS:HOXA11 ; xref: HGNC:5101 ; xref: OMIM:142958 ; xref: UNIPROTKB/SWISSPROT:P31270 ; xref: ENSEMBL:ENSG00000005073]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial platelet disorder with associated myeloid malignancy
Gene [OrphaNum:118423 ; Name:Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) ; Symbol:RUNX1 ; xref: GENATLAS:RUNX1 ; xref: HGNC:10471 ; xref: OMIM:151385 ; xref: UNIPROTKB/SWISSPROT:Q01196 ; xref: ENSEMBL:ENSG00000159216]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290
Hereditary vascular retinopathy - Raynaud phenomenon - migraine
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71291
Gene [OrphaNum:120091 ; Name:Thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor) ; Symbol:THPO ; xref: GENATLAS:THPO ; xref: HGNC:11795 ; xref: OMIM:600044 ; xref: UNIPROTKB/SWISSPROT:P40225 ; xref: ENSEMBL:ENSG00000090534 ; xref: REACTOME:P40225]
Gene [OrphaNum:122727 ; Name:Janus kinase 2 (a protein tyrosine kinase) ; Symbol:JAK2 ; xref: GENATLAS:JAK2 ; xref: HGNC:6192 ; xref: OMIM:147796 ; xref: UNIPROTKB/SWISSPROT:O60674 ; xref: REACTOME:O60674 ; xref: ENSEMBL:ENSG00000096968]
Gene [OrphaNum:123465 ; Name:Myeloproliferative leukemia virus oncogene ; Symbol:MPL ; xref: GENATLAS:MPL ; xref: HGNC:7217 ; xref: OMIM:159530 ; xref: UNIPROTKB/SWISSPROT:P40238 ; xref: ENSEMBL:ENSG00000117400 ; xref: REACTOME:P40238]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71516
Gene [OrphaNum:121501 ; Name:ATPase, Na+/K+ transporting, alpha 3 polypeptide ; Symbol:ATP1A3 ; xref: GENATLAS:ATP1A3 ; xref: HGNC:801 ; xref: OMIM:182350 ; xref: UNIPROTKB/SWISSPROT:P13637 ; xref: ENSEMBL:ENSG00000105409 ; xref: REACTOME:P13637]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517
Benign paroxysmal torticollis of infancy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518
Obesity due to pro-opiomelanocortin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526
Gene [OrphaNum:123421 ; Name:Proopiomelanocortin gene ; Symbol:POMC ; xref: GENATLAS:POMC ; xref: HGNC:9201 ; xref: OMIM:176830 ; xref: UNIPROTKB/SWISSPROT:P01189 ; xref: ENSEMBL:ENSG00000115138 ; xref: REACTOME:P01189]
Obesity due to prohormone convertase-I deficiency
Gene [OrphaNum:124131 ; Name:Proprotein convertase subtilisin/kexin type 1 ; Symbol:PCSK1 ; xref: GENATLAS:PCSK1 ; xref: HGNC:8743 ; xref: OMIM:162150 ; xref: UNIPROTKB/SWISSPROT:P29120 ; xref: REACTOME:P29120 ; xref: ENSEMBL:ENSG00000175426]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528
Obesity due to melanocortin-4 receptor deficiency
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:168091 ; Name:Melanocortin 4 receptor ; Symbol:MC4R ; xref: GENATLAS:MC4R ; xref: HGNC:6932 ; xref: OMIM:155541 ; xref: UNIPROTKB/SWISSPROT:P32245 ; xref: REACTOME:P32245 ; xref: IUPHAR:285 ; xref: ENSEMBL:ENSG00000166603]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71859
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71862
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71864
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-Any age;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217
Gene [OrphaNum:158588 ; Name:HNF1 homeobox B ; Symbol:HNF1B ; xref: ENSEMBL:ENSG00000108753 ; xref: REACTOME:P35680 ; xref: GENATLAS:HNF1B ; xref: HGNC:11630 ; xref: OMIM:189907 ; xref: UNIPROTKB/SWISSPROT:P35680]
prevalence- 1-5 / 10 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
X-linked intellectual deficit - hypotonic face
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73220
Global developmental delay - osteopenia - ectodermal defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229
Ossification anomalies - psychomotor development delay
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230
Spinal muscular atrophy - Dandy-Walker complex - cataracts
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246
Bleeding diathesis due to a collagen receptor defect
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271
Growth delay due to insulin-like growth factor I deficiency
Growth delay - deafness- intellectual deficit
Primary insulin-like growth factor deficiency
Gene [OrphaNum:122587 ; Name:Insulin-like growth factor 1 (somatomedin C) ; Symbol:IGF1 ; xref: GENATLAS:IGF1 ; xref: HGNC:5464 ; xref: OMIM:147440 ; xref: UNIPROTKB/SWISSPROT:P05019 ; xref: ENSEMBL:ENSG00000017427 ; xref: REACTOME:P05019]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272
Growth delay due to insulin-like growth factor I resistance
Gene [OrphaNum:138578 ; Name:Insulin-like growth factor 1 receptor ; Symbol:IGF1R ; xref: GENATLAS:IGF1R ; xref: HGNC:5465 ; xref: OMIM:147370 ; xref: UNIPROTKB/SWISSPROT:P08069 ; xref: ENSEMBL:ENSG00000140443]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233
Gene [OrphaNum:123063 ; Name:Lipase A, lysosomal acid, cholesterol esterase (Wolman disease) ; Symbol:LIPA ; xref: GENATLAS:LIPA ; xref: HGNC:6617 ; xref: UNIPROTKB/SWISSPROT:P38571 ; xref: OMIM:613497 ; xref: ENSEMBL:ENSG00000107798]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234
Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249
Osteosclerosis - ichthyosis - premature ovarian failure
Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Unknown;
Retinal hemorrhage with vascular tortuosity
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326
Central areolar pigment epithelial dystrophy
Central retinal pigment epithelial dystrophy
North Carolina macular dystrophy, retinal 1
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327
Progressive bifocal chorioretinal atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373
Prolonged electroretinal response supression
Gene [OrphaNum:118301 ; Name:Regulator of G protein signalling 9 binding protein ; Symbol:RGS9BP ; xref: GENATLAS:RGS9BP ; xref: HGNC:30304 ; xref: OMIM:607814 ; xref: UNIPROTKB/SWISSPROT:Q6ZS82 ; xref: ENSEMBL:ENSG00000186326]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374
Gene [OrphaNum:118299 ; Name:Regulator of G-protein signalling 9 ; Symbol:RGS9 ; xref: GENATLAS:RGS9 ; xref: HGNC:10004 ; xref: OMIM:604067 ; xref: UNIPROTKB/SWISSPROT:O75916 ; xref: ENSEMBL:ENSG00000108370 ; xref: REACTOME:O75916]
Gene [OrphaNum:121292 ; Name:EGF-containing fibulin-like extracellular matrix protein 1 ; Symbol:EFEMP1 ; xref: GENATLAS:EFEMP1 ; xref: HGNC:3218 ; xref: OMIM:601548 ; xref: UNIPROTKB/SWISSPROT:Q12805 ; xref: ENSEMBL:ENSG00000115380]
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378
Autosomal dominant cystoid macular edema
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381
Congenital stationary night blindness, Oguchi type
Gene [OrphaNum:122286 ; Name:G protein-coupled receptor kinase 1 ; Symbol:GRK1 ; xref: GENATLAS:GRK1 ; xref: HGNC:10013 ; xref: OMIM:180381 ; xref: UNIPROTKB/SWISSPROT:Q15835 ; xref: ENSEMBL:ENSG00000185974]
Gene [OrphaNum:118449 ; Name:S-antigen; retina and pineal gland (arrestin) ; Symbol:SAG ; xref: GENATLAS:SAG ; xref: HGNC:10521 ; xref: OMIM:181031 ; xref: UNIPROTKB/SWISSPROT:P10523 ; xref: ENSEMBL:ENSG00000130561]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Brain malformation - congenital heart disease - postaxial polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Unknown;
Immunodeficiency with natural-killer cell deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391
Gene [OrphaNum:294681 ; Name:Minichromosome maintenance complex component 4 ; Symbol:MCM4 ; xref: OMIM:602638 ; xref: GENATLAS:MCM4 ; xref: UNIPROTKB/SWISSPROT:P33991 ; xref: HGNC:6947]
Ehlers-Danlos syndrome, periodontitis type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392
Defective biosynthesis of proteodermatan sulfate
Xylosylprotein 4-beta-galactosyltransferase deficiency
Gene [OrphaNum:118966 ; Name:Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) ; Symbol:B4GALT7 ; xref: GENATLAS:B4GALT7 ; xref: HGNC:930 ; xref: OMIM:604327 ; xref: UNIPROTKB/SWISSPROT:Q9UBV7 ; xref: ENSEMBL:ENSG00000027847]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Ehlers-Danlos syndrome, fibronectinemic type
Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
Ehlers-Danlos syndrome, fibronectin-deficient
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75501
Pyridoxine-responsive sideroblastic anemia
Gene [OrphaNum:119573 ; Name:Aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) ; Symbol:ALAS2 ; xref: GENATLAS:ALAS2 ; xref: HGNC:397 ; xref: OMIM:301300 ; xref: UNIPROTKB/SWISSPROT:P22557 ; xref: ENSEMBL:ENSG00000158578 ; xref: REACTOME:P22557]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75789
Trichothiodystrophy - neurocutaneous syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75790
Congenital muscular dystrophy, Ullrich type
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:120736 ; Name:Collagen, type VI, alpha 3 ; Symbol:COL6A3 ; xref: GENATLAS:COL6A3 ; xref: HGNC:2213 ; xref: OMIM:120250 ; xref: UNIPROTKB/SWISSPROT:P12111 ; xref: REACTOME:P12111 ; xref: ENSEMBL:ENSG00000163359]
Gene [OrphaNum:120732 ; Name:Collagen, type VI, alpha 1 ; Symbol:COL6A1 ; xref: GENATLAS:COL6A1 ; xref: HGNC:2211 ; xref: OMIM:120220 ; xref: UNIPROTKB/SWISSPROT:P12109 ; xref: REACTOME:P12109 ; xref: ENSEMBL:ENSG00000142156]
Gene [OrphaNum:120734 ; Name:Collagen, type VI, alpha 2 ; Symbol:COL6A2 ; xref: GENATLAS:COL6A2 ; xref: HGNC:2212 ; xref: OMIM:120240 ; xref: UNIPROTKB/SWISSPROT:P12110 ; xref: REACTOME:P12110 ; xref: ENSEMBL:ENSG00000142173]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857
Intellectual deficit - truncal obesity - retinal dystrophy - micropenis
Mental retardation - truncal obesity - retinal dystrophy - micropenis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858
prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77242
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77243
Trichorhinophalangeal syndrome type 1 and 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258
Gene [OrphaNum:120307 ; Name:Trichorhinophalangeal syndrome I ; Symbol:TRPS1 ; xref: GENATLAS:TRPS1 ; xref: HGNC:12340 ; xref: OMIM:604386 ; xref: UNIPROTKB/SWISSPROT:Q9UHF7 ; xref: ENSEMBL:ENSG00000104447]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gene [OrphaNum:122039 ; Name:'Glucosidase, beta; acid (includes glucosylceramidase)' ; Symbol:GBA ; xref: GENATLAS:GBA ; xref: HGNC:4177 ; xref: OMIM:606463 ; xref: UNIPROTKB/SWISSPROT:P04062 ; xref: ENSEMBL:ENSG00000177628 ; xref: REACTOME:P04062]
Gene [OrphaNum:165923 ; Name:Scavenger receptor class B, member 2 ; Symbol:SCARB2 ; xref: GENATLAS:SCARB2 ; xref: HGNC:1665 ; xref: OMIM:602257 ; xref: UNIPROTKB/SWISSPROT:Q14108 ; xref: ENSEMBL:ENSG00000138760]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260
Cerebral juvenile and adult form of Gaucher disease
Gaucher disease, subacute neuronopathic type
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gene [OrphaNum:119754 ; Name:Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) ; Symbol:SMPD1 ; xref: GENATLAS:SMPD1 ; xref: HGNC:11120 ; xref: OMIM:607608 ; xref: UNIPROTKB/SWISSPROT:P17405 ; xref: ENSEMBL:ENSG00000166311 ; xref: REACTOME:P17405]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295
Gene [OrphaNum:285106 ; Name:Polymerase (RNA) III (DNA directed) Polypeptide A, 155kDa ; Symbol:POLR3A ; xref: UNIPROTKB/SWISSPROT:O14802 ; xref: HGNC:30074 ; xref: OMIM:614258 ; xref: GENATLAS:POLR3A ; xref: REACTOME:O14802 ; xref: ENSEMBL:ENSG00000148606]
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296
Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis
Gene [OrphaNum:123109 ; Name:Lipin 2 ; Symbol:LPIN2 ; xref: GENATLAS:LPIN2 ; xref: HGNC:14450 ; xref: OMIM:605519 ; xref: UNIPROTKB/SWISSPROT:Q92539 ; xref: REACTOME:Q92539 ; xref: ENSEMBL:ENSG00000101577]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297
Anophthalmia/microphthalmia - esophageal atresia
Gene [OrphaNum:119790 ; Name:SRY (sex determining region Y)-box 2 ; Symbol:SOX2 ; xref: GENATLAS:SOX2 ; xref: HGNC:11195 ; xref: OMIM:184429 ; xref: UNIPROTKB/SWISSPROT:P48431 ; xref: ENSEMBL:ENSG00000181449]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299
Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77302
Common variable immunodeficiency due to an intrinsic B cell defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77303
Gene [OrphaNum:119235 ; Name:CD19 molecule ; Symbol:CD19 ; xref: GENATLAS:CD19 ; xref: HGNC:1633 ; xref: OMIM:107265 ; xref: UNIPROTKB/SWISSPROT:P15391 ; xref: ENSEMBL:ENSG00000177455 ; xref: REACTOME:P15391]
Gene [OrphaNum:160142 ; Name:Complement component (3d/Epstein Barr virus) receptor 2 ; Symbol:CR2 ; xref: GENATLAS:CR2 ; xref: HGNC:2336 ; xref: OMIM:120650 ; xref: UNIPROTKB/SWISSPROT:P20023 ; xref: ENSEMBL:ENSG00000117322]
Gene [OrphaNum:303168 ; Name:LPS-responsive vesicle trafficking, beach and anchor containing ; Symbol:LRBA ; xref: HGNC:1742 ; xref: OMIM:606453 ; xref: GENATLAS:LRBA ; xref: UNIPROTKB/SWISSPROT:P50851]
Gene [OrphaNum:235199 ; Name:CD81 molecule ; Symbol:CD81 ; xref: REACTOME:P60033 ; xref: ENSEMBL:ENSG00000110651 ; xref: HGNC:1701 ; xref: GENATLAS:CD81 ; xref: OMIM:186845 ; xref: UNIPROTKB/SWISSPROT:P60033]
Not NOTCH3-related small vessel disease of the brain
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77304
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77828
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77830
Lethal variant of Simpson-Golabi-Behmel syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79022
Gene [OrphaNum:123982 ; Name:Oral-facial-digital syndrome 1 ; Symbol:OFD1 ; xref: GENATLAS:OFD1 ; xref: HGNC:2567 ; xref: OMIM:300170 ; xref: UNIPROTKB/SWISSPROT:O75665 ; xref: REACTOME:O75665 ; xref: ENSEMBL:ENSG00000046651]
Disorder of amino acid and other organic acid metabolism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79062
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:119048 ; Name:Bone morphogenetic protein receptor, type IA ; Symbol:BMPR1A ; xref: GENATLAS:BMPR1A ; xref: HGNC:1076 ; xref: OMIM:601299 ; xref: UNIPROTKB/SWISSPROT:P36894 ; xref: REACTOME:P36894 ; xref: ENSEMBL:ENSG00000107779]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076
Familial partial lipodystrophy associated with PPARG mutations
Gene [OrphaNum:117964 ; Name:Peroxisome proliferator-activated receptor gamma ; Symbol:PPARG ; xref: GENATLAS:PPARG ; xref: HGNC:9236 ; xref: OMIM:601487 ; xref: UNIPROTKB/SWISSPROT:P37231 ; xref: IUPHAR:595 ; xref: ENSEMBL:ENSG00000132170 ; xref: REACTOME:P37231]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083
Familial partial lipodystrophy, Köbberling type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084
Familial partial lipodystrophy due to AKT2 mutations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085
Gene [OrphaNum:201112 ; Name:V-akt murine thymoma viral oncogene homolog 2 ; Symbol:AKT2 ; xref: REACTOME:P31751 ; xref: ENSEMBL:ENSG00000105221 ; xref: GENATLAS:AKT2 ; xref: HGNC:392 ; xref: OMIM:164731 ; xref: UNIPROTKB/SWISSPROT:P31751]
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086
Progressive cephalothoracic lipodystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087
Gene [OrphaNum:221339 ; Name:Lamin B2 ; Symbol:LMNB2 ; xref: ENSEMBL:ENSG00000176619 ; xref: GENATLAS:LMNB2 ; xref: HGNC:6638 ; xref: OMIM:150341 ; xref: UNIPROTKB/SWISSPROT:Q03252]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79088
Lipodystrophy in Human Immunodeficiency Virus-infected patients
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79089
prevalence- 1 / 1000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic;
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091
Gene [OrphaNum:123615 ; Name:Myosin, heavy chain 2, skeletal muscle, adult ; Symbol:MYH2 ; xref: GENATLAS:MYH2 ; xref: HGNC:7572 ; xref: OMIM:160740 ; xref: UNIPROTKB/SWISSPROT:Q9UKX2 ; xref: ENSEMBL:ENSG00000125414]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093
Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Congenital bile acid synthesis defect type 4
Alpha-methyl-acyl-CoA racemase deficiency
Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy
Gene [OrphaNum:159633 ; Name:Alpha-methylacyl-CoA racemase ; Symbol:AMACR ; xref: GENATLAS:AMACR ; xref: HGNC:451 ; xref: OMIM:604489 ; xref: UNIPROTKB/SWISSPROT:Q9UHK6 ; xref: REACTOME:Q9UHK6 ; xref: ENSEMBL:ENSG00000242110]
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095
PNPO-related neonatal epileptic encephalopathy
Pyridoxamine 5'-phosphate oxidase deficiency
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096
Gene [OrphaNum:160333 ; Name:Pyridoxamine 5'-phosphate oxidase ; Symbol:PNPO ; xref: GENATLAS:PNPO ; xref: HGNC:30260 ; xref: OMIM:603287 ; xref: UNIPROTKB/SWISSPROT:Q9NVS9 ; xref: ENSEMBL:ENSG00000108439 ; xref: REACTOME:Q9NVS9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown;
Gene [OrphaNum:120811 ; Name:Cereblon ; Symbol:CRBN ; xref: GENATLAS:CRBN ; xref: HGNC:30185 ; xref: OMIM:609262 ; xref: UNIPROTKB/SWISSPROT:Q96SW2 ; xref: ENSEMBL:ENSG00000113851]
Gene [OrphaNum:166392 ; Name:Contactin 4 ; Symbol:CNTN4 ; xref: GENATLAS:CNTN4 ; xref: HGNC:2174 ; xref: OMIM:607280 ; xref: UNIPROTKB/SWISSPROT:Q8IWV2 ; xref: ENSEMBL:ENSG00000144619]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620
Gene [OrphaNum:166396 ; Name:Cell adhesion molecule with homology to L1CAM (close homolog of L1) ; Symbol:CHL1 ; xref: GENATLAS:CHL1 ; xref: HGNC:1939 ; xref: OMIM:607416 ; xref: UNIPROTKB/SWISSPROT:O00533 ; xref: REACTOME:O00533 ; xref: ENSEMBL:ENSG00000134121]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100
Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101
Gene [OrphaNum:119588 ; Name:Aldehyde dehydrogenase 4 family, member A1 ; Symbol:ALDH4A1 ; xref: GENATLAS:ALDH4A1 ; xref: HGNC:406 ; xref: OMIM:606811 ; xref: UNIPROTKB/SWISSPROT:P30038 ; xref: REACTOME:P30038 ; xref: ENSEMBL:ENSG00000159423]
Thyrotoxic hypokalemic periodic paralysis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102
Gene [OrphaNum:119157 ; Name:Calcium channel, voltage-dependent, L type, alpha 1S subunit ; Symbol:CACNA1S ; xref: OMIM:114208 ; xref: UNIPROTKB/SWISSPROT:Q13698 ; xref: GENATLAS:CACNA1S ; xref: HGNC:1397 ; xref: REACTOME:Q13698 ; xref: IUPHAR:528 ; xref: ENSEMBL:ENSG00000081248]
Gene [OrphaNum:199890 ; Name:Gamma-aminobutyric acid (GABA) A receptor, alpha 3 ; Symbol:GABRA3 ; xref: ENSEMBL:ENSG00000011677 ; xref: IUPHAR:406 ; xref: REACTOME:P34903 ; xref: GENATLAS:GABRA3 ; xref: HGNC:4077 ; xref: OMIM:305660 ; xref: UNIPROTKB/SWISSPROT:P34903]
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106
Developmental malformations - deafness - dystonia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107
Gene [OrphaNum:159893 ; Name:Actin, beta ; Symbol:ACTB ; xref: GENATLAS:ACTB ; xref: HGNC:132 ; xref: OMIM:102630 ; xref: UNIPROTKB/SWISSPROT:P60709 ; xref: REACTOME:P60709 ; xref: ENSEMBL:ENSG00000075624]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621
Mandibulofacial dysostosis-microcephaly syndrome
Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113
Gene [OrphaNum:292410 ; Name:Elongation factor Tu GTP binding domain containing 2 ; Symbol:EFTUD2 ; xref: HGNC:30858 ; xref: OMIM:603892 ; xref: GENATLAS:EFTUD2 ; xref: UNIPROTKB/SWISSPROT:Q15029]
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Gene [OrphaNum:165848 ; Name:GLIS family zinc finger 3 ; Symbol:GLIS3 ; xref: UNIPROTKB/SWISSPROT:Q8NEA6 ; xref: GENATLAS:GLIS3 ; xref: HGNC:28510 ; xref: OMIM:610192 ; xref: ENSEMBL:ENSG00000107249]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118
Hepatic veno-occlusive disease - immunodeficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124
Gene [OrphaNum:119797 ; Name:SP110 nuclear body protein ; Symbol:SP110 ; xref: GENATLAS:SP110 ; xref: HGNC:5401 ; xref: OMIM:604457 ; xref: UNIPROTKB/SWISSPROT:Q9HB58 ; xref: ENSEMBL:ENSG00000135899]
Trichodysplasia - amelogenesis imperfecta
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129
Sparse hair - short stature - skin anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79132
Hereditary symmetrical aplastic nevi of temples
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133
Developmental delay - epilepsy - neonatal diabetes
Gene [OrphaNum:122787 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 11 ; Symbol:KCNJ11 ; xref: GENATLAS:KCNJ11 ; xref: HGNC:6257 ; xref: OMIM:600937 ; xref: UNIPROTKB/SWISSPROT:Q14654 ; xref: IUPHAR:442 ; xref: ENSEMBL:ENSG00000187486 ; xref: REACTOME:Q14654]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136
Generalized epilepsy - paroxysmal dyskinesia
Gene [OrphaNum:122795 ; Name:Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 ; Symbol:KCNMA1 ; xref: GENATLAS:KCNMA1 ; xref: HGNC:6284 ; xref: OMIM:600150 ; xref: UNIPROTKB/SWISSPROT:Q12791 ; xref: IUPHAR:380 ; xref: ENSEMBL:ENSG00000156113 ; xref: REACTOME:Q12791]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137
prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79142
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143
Gene [OrphaNum:118419 ; Name:R-spondin family, member 4 ; Symbol:RSPO4 ; xref: GENATLAS:RSPO4 ; xref: HGNC:16175 ; xref: OMIM:610573 ; xref: UNIPROTKB/SWISSPROT:Q2I0M5 ; xref: ENSEMBL:ENSG00000101282]
Congenital onychodysplasia of the index fingers
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144
Gene [OrphaNum:122913 ; Name:Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) ; Symbol:KRT5 ; xref: GENATLAS:KRT5 ; xref: HGNC:6442 ; xref: OMIM:148040 ; xref: UNIPROTKB/SWISSPROT:P13647 ; xref: ENSEMBL:ENSG00000186081 ; xref: REACTOME:P13647]
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146
Gene [OrphaNum:201509 ; Name:KIT ligand ; Symbol:KITLG ; xref: ENSEMBL:ENSG00000049130 ; xref: REACTOME:P21583 ; xref: GENATLAS:KITLG ; xref: HGNC:6343 ; xref: OMIM:184745 ; xref: UNIPROTKB/SWISSPROT:P21583]
Familial reactive perforating collagenosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null;
Linear and whorled nevoid hypermelanosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151
Gene [OrphaNum:118844 ; Name:ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ; Symbol:ATP2A2 ; xref: GENATLAS:ATP2A2 ; xref: HGNC:812 ; xref: OMIM:108740 ; xref: UNIPROTKB/SWISSPROT:P16615 ; xref: ENSEMBL:ENSG00000174437 ; xref: REACTOME:P16615]
Disseminated superficial actinic porokeratosis
Gene [OrphaNum:159203 ; Name:Squamous cell carcinoma antigen recognized by T cells 3 ; Symbol:SART3 ; xref: GENATLAS:SART3 ; xref: HGNC:16860 ; xref: OMIM:611684 ; xref: UNIPROTKB/SWISSPROT:Q15020 ; xref: ENSEMBL:ENSG00000075856]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154
Encephalopathy due to hydroxykynureninuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155
Gene [OrphaNum:168099 ; Name:Kynureninase (L-kynurenine hydrolase) ; Symbol:KYNU ; xref: GENATLAS:KYNU ; xref: HGNC:6469 ; xref: OMIM:605197 ; xref: UNIPROTKB/SWISSPROT:Q16719 ; xref: ENSEMBL:ENSG00000115919 ; xref: REACTOME:Q16719]
Seizures - intellectual deficit due to hydroxylysinuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
2-methylbutyryl-CoA dehydrogenase deficiency
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
Short/branched-chain acyl-coA dehydrogenase deficiency
Gene [OrphaNum:117709 ; Name:Acyl-Coenzyme A dehydrogenase, short/branched chain ; Symbol:ACADSB ; xref: GENATLAS:ACADSB ; xref: HGNC:91 ; xref: OMIM:600301 ; xref: UNIPROTKB/SWISSPROT:P45954 ; xref: ENSEMBL:ENSG00000196177 ; xref: REACTOME:P45954]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null;
Gene [OrphaNum:123336 ; Name:acyl-Coenzyme A dehydrogenase family, member 8 ; Symbol:ACAD8 ; xref: GENATLAS:ACAD8 ; xref: HGNC:87 ; xref: OMIM:604773 ; xref: UNIPROTKB/SWISSPROT:Q9UKU7 ; xref: ENSEMBL:ENSG00000151498 ; xref: REACTOME:Q9UKU7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166
Disorder of urea cycle metabolism and inherited hyperammonemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79170
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172
Disorder of methionine cycle and sulfur amino acid metabolism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173
Gene [OrphaNum:121427 ; Name:Arylsulfatase A ; Symbol:ARSA ; xref: GENATLAS:ARSA ; xref: HGNC:713 ; xref: OMIM:607574 ; xref: UNIPROTKB/SWISSPROT:P15289 ; xref: ENSEMBL:ENSG00000100299 ; xref: REACTOME:P15289]
Gene [OrphaNum:118095 ; Name:Prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy) ; Symbol:PSAP ; xref: GENATLAS:PSAP ; xref: HGNC:9498 ; xref: OMIM:176801 ; xref: UNIPROTKB/SWISSPROT:P07602 ; xref: REACTOME:P07602 ; xref: ENSEMBL:ENSG00000197746]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512
Fatty acid oxidation or ketogenesis disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79174
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79175
Galactose or fructose metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79176
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79177
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79178
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79179
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79181
Intracellular cobalamin metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79182
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79183
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627
Lysine or tryptophan metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79184
Ornithine or proline metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79185
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79186
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79187
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79188
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189
Phenylalanin or tyrosine metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79190
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79191
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79192
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79193
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79194
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196
Disorder of branched-chain amino acid metabolism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79198
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79200
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79201
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79204
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79207
Miscellanous metabolic disease with mostly hepatic presentation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79208
Metabolic disease associated with a progressive neurological disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79209
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79211
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215
Other metabolic disease with skin involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79217
Metabolic disease involving other neurotransmitter deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79220
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79221
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79223
Purine or pyrimidine metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79224
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79226
Gene [OrphaNum:122364 ; Name:Hepcidin antimicrobial peptide ; Symbol:HAMP ; xref: GENATLAS:HAMP ; xref: HGNC:15598 ; xref: OMIM:606464 ; xref: UNIPROTKB/SWISSPROT:P81172 ; xref: ENSEMBL:ENSG00000105697]
Gene [OrphaNum:123414 ; Name:Hemochromatosis type 2 (juvenile) gene ; Symbol:HFE2 ; xref: OMIM:608374 ; xref: UNIPROTKB/SWISSPROT:Q6ZVN8 ; xref: GENATLAS:HFE2 ; xref: HGNC:4887 ; xref: REACTOME:Q6ZVN8 ; xref: ENSEMBL:ENSG00000168509]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency, grade I
Gene [OrphaNum:122476 ; Name:Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) ; Symbol:HPRT1 ; xref: REACTOME:P00492 ; xref: HGNC:5157 ; xref: OMIM:308000 ; xref: UNIPROTKB/SWISSPROT:P00492 ; xref: GENATLAS:HPRT1 ; xref: ENSEMBL:ENSG00000165704]
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
Hereditary unconjugated hyperbilirubinemia type 1
Gene [OrphaNum:120380 ; Name:UDP glucuronosyltransferase 1 family, polypeptide A1 ; Symbol:UGT1A1 ; xref: REACTOME:P22309 ; xref: GENATLAS:UGT1A1 ; xref: HGNC:12530 ; xref: OMIM:191740 ; xref: UNIPROTKB/SWISSPROT:P22309 ; xref: ENSEMBL:ENSG00000241635]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
Hereditary unconjugated hyperbilirubinemia type 2
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235
Gene [OrphaNum:121999 ; Name:Galactokinase 1 ; Symbol:GALK1 ; xref: GENATLAS:GALK1 ; xref: HGNC:4118 ; xref: OMIM:604313 ; xref: UNIPROTKB/SWISSPROT:P51570 ; xref: ENSEMBL:ENSG00000108479 ; xref: REACTOME:P51570]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238
Gene [OrphaNum:121997 ; Name:UDP-galactose-4-epimerase ; Symbol:GALE ; xref: GENATLAS:GALE ; xref: HGNC:4116 ; xref: OMIM:606953 ; xref: UNIPROTKB/SWISSPROT:Q14376 ; xref: ENSEMBL:ENSG00000117308 ; xref: REACTOME:Q14376]
Galactose-1-phosphate uridyltransferase deficiency
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239
Gene [OrphaNum:122009 ; Name:Galactose-1-phosphate uridylyltransferase ; Symbol:GALT ; xref: OMIM:606999 ; xref: UNIPROTKB/SWISSPROT:P07902 ; xref: GENATLAS:GALT ; xref: HGNC:4135 ; xref: REACTOME:P07902 ; xref: ENSEMBL:ENSG00000213930]
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
GSD due to liver and muscle phosphorylase kinase deficiency
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
Gene [OrphaNum:117797 ; Name:Phosphorylase kinase, beta ; Symbol:PHKB ; xref: GENATLAS:PHKB ; xref: HGNC:8927 ; xref: OMIM:172490 ; xref: UNIPROTKB/SWISSPROT:Q93100 ; xref: ENSEMBL:ENSG00000102893 ; xref: REACTOME:Q93100]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Gene [OrphaNum:119092 ; Name:Biotinidase ; Symbol:BTD ; xref: GENATLAS:BTD ; xref: HGNC:1122 ; xref: OMIM:609019 ; xref: UNIPROTKB/SWISSPROT:P43251 ; xref: ENSEMBL:ENSG00000169814]
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Gene [OrphaNum:122430 ; Name:Holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) ; Symbol:HLCS ; xref: UNIPROTKB/SWISSPROT:P50747 ; xref: GENATLAS:HLCS ; xref: HGNC:4976 ; xref: OMIM:609018 ; xref: ENSEMBL:ENSG00000159267]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- X-linked dominant;
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
Gene [OrphaNum:121098 ; Name:Dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) ; Symbol:DLAT ; xref: GENATLAS:DLAT ; xref: HGNC:2896 ; xref: OMIM:608770 ; xref: UNIPROTKB/SWISSPROT:P10515 ; xref: ENSEMBL:ENSG00000150768 ; xref: REACTOME:P10515]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244
Pyruvate dehydrogenase phosphatase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246
Gene [OrphaNum:158072 ; Name:Pyruvate dehyrogenase phosphatase catalytic subunit 1 ; Symbol:PDP1 ; xref: GENATLAS:PDP1 ; xref: HGNC:9279 ; xref: UNIPROTKB/SWISSPROT:Q9P0J1 ; xref: OMIM:605993 ; xref: ENSEMBL:ENSG00000164951 ; xref: REACTOME:Q9P0J1]
Gene [OrphaNum:124068 ; Name:Phenylalanine hydroxylase ; Symbol:PAH ; xref: GENATLAS:PAH ; xref: HGNC:8582 ; xref: OMIM:612349 ; xref: UNIPROTKB/SWISSPROT:P00439 ; xref: REACTOME:P00439 ; xref: ENSEMBL:ENSG00000171759]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254
Gene [OrphaNum:122156 ; Name:Galactosidase, beta 1 ; Symbol:GLB1 ; xref: GENATLAS:GLB1 ; xref: HGNC:4298 ; xref: UNIPROTKB/SWISSPROT:P16278 ; xref: OMIM:611458 ; xref: REACTOME:P16278 ; xref: ENSEMBL:ENSG00000170266]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257
Glycogenosis due to glucose-6-phosphatase deficiency type a
Glycogen storage disease due to G6P deficiency type a
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258
Gene [OrphaNum:121980 ; Name:Glucose-6-phosphatase, catalytic subunit ; Symbol:G6PC ; xref: GENATLAS:G6PC ; xref: HGNC:4056 ; xref: OMIM:613742 ; xref: UNIPROTKB/SWISSPROT:P35575 ; xref: ENSEMBL:ENSG00000131482 ; xref: REACTOME:P35575]
Glycogenosis due to glucose-6-phosphatase deficiency type b
Glycogen storage disease due to G6P deficiency type b
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259
Gene [OrphaNum:119474 ; Name:Solute carrier family 37 (glucose-6-phosphate transporter), member 4 ; Symbol:SLC37A4 ; xref: ENSEMBL:ENSG00000137700 ; xref: REACTOME:O43826 ; xref: GENATLAS:SLC37A4 ; xref: HGNC:4061 ; xref: OMIM:602671 ; xref: UNIPROTKB/SWISSPROT:O43826]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Infantile neuronal ceroid lipofuscinosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Gene [OrphaNum:118674 ; Name:N-sulfoglucosamine sulfohydrolase (sulfamidase) ; Symbol:SGSH ; xref: GENATLAS:SGSH ; xref: HGNC:10818 ; xref: OMIM:605270 ; xref: UNIPROTKB/SWISSPROT:P51688 ; xref: ENSEMBL:ENSG00000181523]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
prevalence- 1-9 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive;
N-acetyl-alpha-glucosaminidase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Gene [OrphaNum:123672 ; Name:N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) ; Symbol:NAGLU ; xref: UNIPROTKB/SWISSPROT:P54802 ; xref: GENATLAS:NAGLU ; xref: HGNC:7632 ; xref: OMIM:609701 ; xref: ENSEMBL:ENSG00000108784]
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Gene [OrphaNum:122412 ; Name:Heparan-alpha-glucosaminide N-acetyltransferase ; Symbol:HGSNAT ; xref: GENATLAS:HGSNAT ; xref: HGNC:26527 ; xref: OMIM:610453 ; xref: UNIPROTKB/SWISSPROT:Q68CP4 ; xref: ENSEMBL:ENSG00000165102]
Glucosamine N-acetyl-6-sulfatase deficiency
Gene [OrphaNum:122230 ; Name:Glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) ; Symbol:GNS ; xref: GENATLAS:GNS ; xref: HGNC:4422 ; xref: OMIM:607664 ; xref: UNIPROTKB/SWISSPROT:P15586 ; xref: REACTOME:P15586 ; xref: ENSEMBL:ENSG00000135677]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Gene [OrphaNum:120783 ; Name:Coproporphyrinogen oxidase ; Symbol:CPOX ; xref: GENATLAS:CPOX ; xref: HGNC:2321 ; xref: UNIPROTKB/SWISSPROT:P36551 ; xref: OMIM:612732 ; xref: ENSEMBL:ENSG00000080819 ; xref: REACTOME:P36551]
Gene [OrphaNum:122438 ; Name:Hydroxymethylbilane synthase ; Symbol:HMBS ; xref: GENATLAS:HMBS ; xref: HGNC:4982 ; xref: OMIM:609806 ; xref: UNIPROTKB/SWISSPROT:P08397 ; xref: ENSEMBL:ENSG00000256269 ; xref: REACTOME:P08397]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277
Gene [OrphaNum:120431 ; Name:Uroporphyrinogen III synthase (congenital erythropoietic porphyria) ; Symbol:UROS ; xref: GENATLAS:UROS ; xref: HGNC:12592 ; xref: OMIM:606938 ; xref: UNIPROTKB/SWISSPROT:P10746 ; xref: ENSEMBL:ENSG00000188690 ; xref: REACTOME:P10746]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278
Gene [OrphaNum:121784 ; Name:Ferrochelatase (protoporphyria) ; Symbol:FECH ; xref: GENATLAS:FECH ; xref: HGNC:3647 ; xref: OMIM:612386 ; xref: UNIPROTKB/SWISSPROT:P22830 ; xref: REACTOME:P22830 ; xref: ENSEMBL:ENSG00000066926]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant;
Alpha-N-acetylgalactosaminidase deficiency type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279
Alpha-N-acetylgalactosaminidase deficiency type 2
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280
Alpha-N-acetylgalactosaminidase deficiency type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281
Methylmalonic acidemia with homocystinuria, type cblC
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null;
Gene [OrphaNum:123433 ; Name:Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria ; Symbol:MMACHC ; xref: GENATLAS:MMACHC ; xref: HGNC:24525 ; xref: OMIM:609831 ; xref: UNIPROTKB/SWISSPROT:Q9Y4U1 ; xref: ENSEMBL:ENSG00000132763]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
Methylmalonic acidemia with homocystinuria, type cblD
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
Methylmalonic aciduria with homocystinuria, type cblD
Gene [OrphaNum:171059 ; Name:Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria ; Symbol:MMADHC ; xref: GENATLAS:MMADHC ; xref: HGNC:25221 ; xref: OMIM:611935 ; xref: UNIPROTKB/SWISSPROT:Q9H3L0 ; xref: ENSEMBL:ENSG00000168288]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283
Methylmalonic acidemia with homocystinuria, type cblF
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
Lysosomal membrane cobalamin transporter deficiency
Methylmalonic aciduria with homocystinuria, type cblF
Gene [OrphaNum:173562 ; Name:LMBR1 domain containing 1 ; Symbol:LMBRD1 ; xref: GENATLAS:LMBRD1 ; xref: HGNC:23038 ; xref: OMIM:612625 ; xref: UNIPROTKB/SWISSPROT:Q9NUN5 ; xref: ENSEMBL:ENSG00000168216]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284
Gene [OrphaNum:123006 ; Name:Lecithin-cholesterol acyltransferase ; Symbol:LCAT ; xref: GENATLAS:LCAT ; xref: HGNC:6522 ; xref: OMIM:606967 ; xref: UNIPROTKB/SWISSPROT:P04180 ; xref: REACTOME:P04180 ; xref: ENSEMBL:ENSG00000213398]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic;
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643
Chylomicron retention - Marinesco-Sjögren syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79297
Diazoxide-resistant focal hyperinsulinism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinemic hypoglycemia due to glucokinase deficiency
Gene [OrphaNum:122053 ; Name:Glucokinase (hexokinase 4, maturity onset diabetes of the young 2) ; Symbol:GCK ; xref: GENATLAS:GCK ; xref: HGNC:4195 ; xref: OMIM:138079 ; xref: UNIPROTKB/SWISSPROT:P35557 ; xref: ENSEMBL:ENSG00000106633 ; xref: REACTOME:P35557]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299
Congenital bile acid synthesis defect type 1
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301
Gene [OrphaNum:122517 ; Name:Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ; Symbol:HSD3B7 ; xref: ENSEMBL:ENSG00000099377 ; xref: GENATLAS:HSD3B7 ; xref: HGNC:18324 ; xref: OMIM:607764 ; xref: UNIPROTKB/SWISSPROT:Q9H2F3 ; xref: REACTOME:Q9H2F3]
Congenital bile acid synthesis defect type 3
Oxysterol 7-alpha-hydroxylase deficiency
Gene [OrphaNum:121005 ; Name:Cytochrome P450, family 7, subfamily B, polypeptide 1 ; Symbol:CYP7B1 ; xref: GENATLAS:CYP7B1 ; xref: HGNC:2652 ; xref: OMIM:603711 ; xref: UNIPROTKB/SWISSPROT:O75881 ; xref: REACTOME:O75881 ; xref: ENSEMBL:ENSG00000172817]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302
Congenital bile acid synthesis defect type 2
Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Gene [OrphaNum:139142 ; Name:Aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) ; Symbol:AKR1D1 ; xref: GENATLAS:AKR1D1 ; xref: HGNC:388 ; xref: OMIM:604741 ; xref: UNIPROTKB/SWISSPROT:P51857 ; xref: ENSEMBL:ENSG00000122787 ; xref: REACTOME:P51857]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303
Progressive familial intrahepatic cholestasis type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304
Gene [OrphaNum:117631 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 11 ; Symbol:ABCB11 ; xref: GENATLAS:ABCB11 ; xref: HGNC:42 ; xref: OMIM:603201 ; xref: UNIPROTKB/SWISSPROT:O95342 ; xref: REACTOME:O95342 ; xref: ENSEMBL:ENSG00000073734]
Progressive familial intrahepatic cholestasis type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305
Progressive familial intrahepatic cholestasis type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306
Gene [OrphaNum:118885 ; Name:ATPase, Class I, type 8B, member 1 ; Symbol:ATP8B1 ; xref: GENATLAS:ATP8B1 ; xref: HGNC:3706 ; xref: OMIM:602397 ; xref: UNIPROTKB/SWISSPROT:O43520 ; xref: ENSEMBL:ENSG00000081923 ; xref: REACTOME:O43520]
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic aciduria type cblA
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310
Gene [OrphaNum:123294 ; Name:Methylmalonic aciduria (cobalamin deficiency) cblA type ; Symbol:MMAA ; xref: GENATLAS:MMAA ; xref: HGNC:18871 ; xref: OMIM:607481 ; xref: UNIPROTKB/SWISSPROT:Q8IVH4 ; xref: ENSEMBL:ENSG00000151611]
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-responsive methylmalonic aciduria type cblB
Gene [OrphaNum:123296 ; Name:Methylmalonic aciduria (cobalamin deficiency) cblB type ; Symbol:MMAB ; xref: GENATLAS:MMAB ; xref: HGNC:19331 ; xref: OMIM:607568 ; xref: UNIPROTKB/SWISSPROT:Q96EY8 ; xref: ENSEMBL:ENSG00000139428]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311
Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12 unresponsive methylmalonic acidemia type mut-
Vitamin B12 unresponsive methylmalonic aciduria type mut-
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312
Gene [OrphaNum:123583 ; Name:Methylmalonyl Coenzyme A mutase ; Symbol:MUT ; xref: GENATLAS:MUT ; xref: HGNC:7526 ; xref: OMIM:609058 ; xref: UNIPROTKB/SWISSPROT:P22033 ; xref: REACTOME:P22033 ; xref: ENSEMBL:ENSG00000146085]
Gene [OrphaNum:122957 ; Name:L-2-hydroxyglutarate dehydrogenase ; Symbol:L2HGDH ; xref: GENATLAS:L2HGDH ; xref: HGNC:20499 ; xref: OMIM:609584 ; xref: UNIPROTKB/SWISSPROT:Q9H9P8 ; xref: ENSEMBL:ENSG00000087299 ; xref: REACTOME:Q9H9P8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314
Gene [OrphaNum:247145 ; Name:Isocitrate dehydrogenase 2 (NADP+), mitochondrial ; Symbol:IDH2 ; xref: GENATLAS:IDH2 ; xref: ENSEMBL:ENSG00000182054 ; xref: REACTOME:P48735 ; xref: HGNC:5383 ; xref: OMIM:147650 ; xref: UNIPROTKB/SWISSPROT:P48735]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315
Gene [OrphaNum:121007 ; Name:D-2-hydroxyglutarate dehydrogenase ; Symbol:D2HGDH ; xref: GENATLAS:D2HGDH ; xref: HGNC:28358 ; xref: OMIM:609186 ; xref: UNIPROTKB/SWISSPROT:Q8N465 ; xref: ENSEMBL:ENSG00000180902 ; xref: REACTOME:Q8N465]
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Phosphoenolpyruvate carboxykinase 1 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79316
Phosphoenolpyruvate carboxykinase 2 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79317
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Gene [OrphaNum:117903 ; Name:Phosphomannomutase 2 ; Symbol:PMM2 ; xref: GENATLAS:PMM2 ; xref: HGNC:9115 ; xref: OMIM:601785 ; xref: UNIPROTKB/SWISSPROT:O15305 ; xref: ENSEMBL:ENSG00000140650 ; xref: REACTOME:O15305]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318
Carbohydrate deficient glycoprotein syndrome type Ib
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ib
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319
Gene [OrphaNum:123463 ; Name:Mannose phosphate isomerase ; Symbol:MPI ; xref: GENATLAS:MPI ; xref: HGNC:7216 ; xref: OMIM:154550 ; xref: UNIPROTKB/SWISSPROT:P34949 ; xref: REACTOME:P34949 ; xref: ENSEMBL:ENSG00000178802]
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320
Gene [OrphaNum:119624 ; Name:Asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) ; Symbol:ALG6 ; xref: GENATLAS:ALG6 ; xref: HGNC:23157 ; xref: OMIM:604566 ; xref: UNIPROTKB/SWISSPROT:Q9Y672 ; xref: ENSEMBL:ENSG00000088035 ; xref: REACTOME:Q9Y672]
Carbohydrate deficient glycoprotein syndrome type Id
Congenital disorder of glycosylation type 1d
Congenital disorder of glycosylation type Id
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321
Gene [OrphaNum:119618 ; Name:Asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) ; Symbol:ALG3 ; xref: GENATLAS:ALG3 ; xref: HGNC:23056 ; xref: OMIM:608750 ; xref: UNIPROTKB/SWISSPROT:Q92685 ; xref: REACTOME:Q92685 ; xref: ENSEMBL:ENSG00000214160]
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322
Gene [OrphaNum:121167 ; Name:Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit ; Symbol:DPM1 ; xref: GENATLAS:DPM1 ; xref: HGNC:3005 ; xref: OMIM:603503 ; xref: UNIPROTKB/SWISSPROT:O60762 ; xref: ENSEMBL:ENSG00000000419 ; xref: REACTOME:O60762]
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
Gene [OrphaNum:123458 ; Name:Mannose-P-dolichol utilization defect 1 ; Symbol:MPDU1 ; xref: GENATLAS:MPDU1 ; xref: HGNC:7207 ; xref: OMIM:604041 ; xref: UNIPROTKB/SWISSPROT:O75352 ; xref: ENSEMBL:ENSG00000129255]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323
Carbohydrate deficient glycoprotein syndrome Ig
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324
Gene [OrphaNum:119610 ; Name:Asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase) ; Symbol:ALG12 ; xref: GENATLAS:ALG12 ; xref: HGNC:19358 ; xref: OMIM:607144 ; xref: UNIPROTKB/SWISSPROT:Q9BV10 ; xref: ENSEMBL:ENSG00000182858 ; xref: REACTOME:Q9BV10]
Carbohydrate deficient glycoprotein syndrome Ih
Gene [OrphaNum:119626 ; Name:Asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) ; Symbol:ALG8 ; xref: GENATLAS:ALG8 ; xref: HGNC:23161 ; xref: OMIM:608103 ; xref: UNIPROTKB/SWISSPROT:Q9BVK2 ; xref: ENSEMBL:ENSG00000159063 ; xref: REACTOME:Q9BVK2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325
Carbohydrate deficient glycoprotein syndrome Ii
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326
Gene [OrphaNum:119613 ; Name:Asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) ; Symbol:ALG2 ; xref: GENATLAS:ALG2 ; xref: HGNC:23159 ; xref: OMIM:607905 ; xref: UNIPROTKB/SWISSPROT:Q9H553 ; xref: ENSEMBL:ENSG00000119523 ; xref: REACTOME:Q9H553]
Carbohydrate deficient glycoprotein syndrome type Ik
Congenital disorder of glycosylation type 1k
Congenital disorder of glycosylation type Ik
Gene [OrphaNum:119603 ; Name:Asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase) ; Symbol:ALG1 ; xref: OMIM:605907 ; xref: UNIPROTKB/SWISSPROT:Q9BT22 ; xref: GENATLAS:ALG1 ; xref: HGNC:18294 ; xref: REACTOME:Q9BT22 ; xref: ENSEMBL:ENSG00000033011]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type IL
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328
Gene [OrphaNum:119629 ; Name:Asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase) ; Symbol:ALG9 ; xref: GENATLAS:ALG9 ; xref: HGNC:15672 ; xref: OMIM:606941 ; xref: UNIPROTKB/SWISSPROT:Q9H6U8 ; xref: ENSEMBL:ENSG00000086848 ; xref: REACTOME:Q9H6U8]
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329
Gene [OrphaNum:123216 ; Name:Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase ; Symbol:MGAT2 ; xref: UNIPROTKB/SWISSPROT:Q10469 ; xref: GENATLAS:MGAT2 ; xref: HGNC:7045 ; xref: OMIM:602616 ; xref: REACTOME:Q10469 ; xref: ENSEMBL:ENSG00000168282]
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330
Gene [OrphaNum:183883 ; Name:Mannosyl-oligosaccharide glucosidase ; Symbol:MOGS ; xref: REACTOME:Q13724 ; xref: ENSEMBL:ENSG00000115275 ; xref: GENATLAS:GCS1 ; xref: HGNC:24862 ; xref: OMIM:601336 ; xref: UNIPROTKB/SWISSPROT:Q13724]
Carbohydrate deficient glycoprotein syndrome type IId
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type IId
Gene [OrphaNum:118962 ; Name:UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 ; Symbol:B4GALT1 ; xref: HGNC:924 ; xref: OMIM:137060 ; xref: UNIPROTKB/SWISSPROT:P15291 ; xref: GENATLAS:B4GALT1 ; xref: REACTOME:P15291 ; xref: ENSEMBL:ENSG00000086062]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe
Gene [OrphaNum:120686 ; Name:Component of oligomeric golgi complex 7 ; Symbol:COG7 ; xref: GENATLAS:COG7 ; xref: HGNC:18622 ; xref: OMIM:606978 ; xref: UNIPROTKB/SWISSPROT:P83436 ; xref: ENSEMBL:ENSG00000168434]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333
Chondrodysplasia punctata, Sheffield type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79344
Brachytelephalangic chondrodysplasia punctata
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive;
Gene [OrphaNum:121431 ; Name:Arylsulfatase E (chondrodysplasia punctata 1) ; Symbol:ARSE ; xref: OMIM:300180 ; xref: UNIPROTKB/SWISSPROT:P51690 ; xref: GENATLAS:ARSE ; xref: HGNC:719 ; xref: ENSEMBL:ENSG00000157399]
Chondrodysplasia punctata, tibial-metacarpal type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346
Chondrodysplasia punctata, Toriello type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350
Gene [OrphaNum:118111 ; Name:Phosphoserine phosphatase ; Symbol:PSPH ; xref: GENATLAS:PSPH ; xref: HGNC:9577 ; xref: OMIM:172480 ; xref: UNIPROTKB/SWISSPROT:P78330 ; xref: ENSEMBL:ENSG00000146733 ; xref: REACTOME:P78330]
3-Phosphoglycerate dehydrogenase deficiency
Gene [OrphaNum:117785 ; Name:Phosphoglycerate dehydrogenase ; Symbol:PHGDH ; xref: GENATLAS:PHGDH ; xref: HGNC:8923 ; xref: OMIM:606879 ; xref: UNIPROTKB/SWISSPROT:O43175 ; xref: ENSEMBL:ENSG00000092621 ; xref: REACTOME:O43175]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79357
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79360
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79364
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79365
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79366
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79367
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79369
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79370
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79383
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79385
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79387
Mucopolysaccharidosis with skin involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79388
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79389
Congenital nonbullous ichthyosiform erythroderma
Non bullous congenital ichthyosiform erythroderma
Gene [OrphaNum:120076 ; Name:Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) ; Symbol:TGM1 ; xref: GENATLAS:TGM1 ; xref: HGNC:11777 ; xref: OMIM:190195 ; xref: UNIPROTKB/SWISSPROT:P22735 ; xref: ENSEMBL:ENSG00000092295]
Gene [OrphaNum:223546 ; Name:NIPA-like domain containing 4 ; Symbol:NIPAL4 ; xref: HGNC:28018 ; xref: OMIM:609383 ; xref: UNIPROTKB/SWISSPROT:Q0D2K0 ; xref: ENSEMBL:ENSG00000172548 ; xref: GENATLAS:ICHTHYIN]
Gene [OrphaNum:117620 ; Name:ATP-binding cassette, sub-family A (ABC1), member 12 ; Symbol:ABCA12 ; xref: GENATLAS:ABCA12 ; xref: HGNC:14637 ; xref: OMIM:607800 ; xref: UNIPROTKB/SWISSPROT:Q86UK0 ; xref: REACTOME:Q86UK0 ; xref: ENSEMBL:ENSG00000144452]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive;
Gene [OrphaNum:119635 ; Name:Arachidonate 12-lipoxygenase, 12R type ; Symbol:ALOX12B ; xref: GENATLAS:ALOX12B ; xref: HGNC:430 ; xref: OMIM:603741 ; xref: UNIPROTKB/SWISSPROT:O75342 ; xref: ENSEMBL:ENSG00000179477]
Gene [OrphaNum:119637 ; Name:Arachidonate lipoxygenase 3 ; Symbol:ALOXE3 ; xref: HGNC:13743 ; xref: OMIM:607206 ; xref: UNIPROTKB/SWISSPROT:Q9BYJ1 ; xref: GENATLAS:ALOXE3 ; xref: ENSEMBL:ENSG00000179148]
Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
Keratoderma hereditarium mutilans with ichthyosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395
Gene [OrphaNum:123105 ; Name:Loricrin ; Symbol:LOR ; xref: GENATLAS:LOR ; xref: HGNC:6663 ; xref: OMIM:152445 ; xref: UNIPROTKB/SWISSPROT:P23490 ; xref: ENSEMBL:ENSG00000203782]
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, herpetiformis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal dominant;
Epidermolysis bullosa simplex with mottled pigmentation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397
Epidermolysis bullosa simplex, Köbner type
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, generalized non-Dowling-Meara
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, localized
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400
Epidermolysis bullosa simplex, Ogna type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401
Gene [OrphaNum:117877 ; Name:Plectin ; Symbol:PLEC ; xref: HGNC:9069 ; xref: GENATLAS:PLEC ; xref: OMIM:601282 ; xref: UNIPROTKB/SWISSPROT:Q15149 ; xref: REACTOME:Q15149 ; xref: ENSEMBL:ENSG00000178209]
Generalized junctional epidermolysis bullosa, non-Herlitz type
Generalized atrophic benign epidermolysis bullosa
Gene [OrphaNum:122708 ; Name:Integrin, beta 4 ; Symbol:ITGB4 ; xref: GENATLAS:ITGB4 ; xref: HGNC:6158 ; xref: OMIM:147557 ; xref: UNIPROTKB/SWISSPROT:P16144 ; xref: REACTOME:P16144 ; xref: ENSEMBL:ENSG00000132470]
Gene [OrphaNum:122980 ; Name:Laminin, gamma 2 ; Symbol:LAMC2 ; xref: GENATLAS:LAMC2 ; xref: HGNC:6493 ; xref: OMIM:150292 ; xref: UNIPROTKB/SWISSPROT:Q13753 ; xref: REACTOME:Q13753 ; xref: ENSEMBL:ENSG00000058085]
Gene [OrphaNum:122974 ; Name:Laminin, beta 3 ; Symbol:LAMB3 ; xref: GENATLAS:LAMB3 ; xref: HGNC:6490 ; xref: OMIM:150310 ; xref: UNIPROTKB/SWISSPROT:Q13751 ; xref: ENSEMBL:ENSG00000196878 ; xref: REACTOME:Q13751]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402
Gene [OrphaNum:122964 ; Name:Laminin, alpha 3 ; Symbol:LAMA3 ; xref: GENATLAS:LAMA3 ; xref: HGNC:6483 ; xref: OMIM:600805 ; xref: UNIPROTKB/SWISSPROT:Q16787 ; xref: REACTOME:Q16787 ; xref: ENSEMBL:ENSG00000053747]
Gene [OrphaNum:120698 ; Name:Collagen, type XVII, alpha 1 ; Symbol:COL17A1 ; xref: GENATLAS:COL17A1 ; xref: HGNC:2194 ; xref: OMIM:113811 ; xref: UNIPROTKB/SWISSPROT:Q9UMD9 ; xref: ENSEMBL:ENSG00000065618 ; xref: REACTOME:Q9UMD9]
Junctional epidermolysis bullosa - pyloric atresia
Gene [OrphaNum:122695 ; Name:Integrin, alpha 6 ; Symbol:ITGA6 ; xref: GENATLAS:ITGA6 ; xref: HGNC:6142 ; xref: OMIM:147556 ; xref: UNIPROTKB/SWISSPROT:P23229 ; xref: ENSEMBL:ENSG00000091409 ; xref: REACTOME:P23229]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa generalisata gravis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404
Junctional epidermolysis bullosa inversa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405
Late-onset junctional epidermolysis bullosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406
prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type
Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270]
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79407
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408
Dystrophic epidermolysis bullosa inversa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409
Pretibial dystrophic epidermolysis bullosa
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410
Transient bullous dermolysis of the newborn
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79428
Gene [OrphaNum:123772 ; Name:Neurofibromin 1 ; Symbol:NF1 ; xref: GENATLAS:NF1 ; xref: HGNC:7765 ; xref: OMIM:613113 ; xref: UNIPROTKB/SWISSPROT:P21359 ; xref: ENSEMBL:ENSG00000196712]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79429
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Tyrosinase-negative oculocutaneous albinism
Gene [OrphaNum:120353 ; Name:Tyrosinase (oculocutaneous albinism IA) ; Symbol:TYR ; xref: ENSEMBL:ENSG00000077498 ; xref: GENATLAS:TYR ; xref: HGNC:12442 ; xref: OMIM:606933 ; xref: UNIPROTKB/SWISSPROT:P14679]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431
Tyrosinase-positive oculocutaneous albinism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432
Gene [OrphaNum:139778 ; Name:Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) ; Symbol:MC1R ; xref: UNIPROTKB/SWISSPROT:Q01726 ; xref: GENATLAS:MC1R ; xref: HGNC:6929 ; xref: OMIM:155555 ; xref: REACTOME:Q01726 ; xref: IUPHAR:282 ; xref: ENSEMBL:ENSG00000258839]
Gene [OrphaNum:123974 ; Name:Oculocutaneous albinism II (pink-eye dilution homolog, mouse) ; Symbol:OCA2 ; xref: GENATLAS:OCA2 ; xref: HGNC:8101 ; xref: OMIM:611409 ; xref: UNIPROTKB/SWISSPROT:Q04671 ; xref: ENSEMBL:ENSG00000104044]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433
Gene [OrphaNum:120361 ; Name:Tyrosinase-related protein 1 ; Symbol:TYRP1 ; xref: GENATLAS:TYRP1 ; xref: HGNC:12450 ; xref: OMIM:115501 ; xref: UNIPROTKB/SWISSPROT:P17643 ; xref: ENSEMBL:ENSG00000107165]
Temperature-sensitive oculocutaneous albinism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435
Gene [OrphaNum:119665 ; Name:Solute carrier family 45, member 2 ; Symbol:SLC45A2 ; xref: GENATLAS:SLC45A2 ; xref: HGNC:16472 ; xref: OMIM:606202 ; xref: UNIPROTKB/SWISSPROT:Q9UMX9 ; xref: ENSEMBL:ENSG00000164175]
Hirschsprung disease with pigmentary anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79438
Albright hereditary osteodystrophy - PHP Ia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444
Albright hereditary osteodystrophy - PPHP
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79446
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79447
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79449
Non hereditary congenital primary lymphedema
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79450
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452
Gene [OrphaNum:121872 ; Name:Fms-related tyrosine kinase 4 ; Symbol:FLT4 ; xref: GENATLAS:FLT4 ; xref: HGNC:3767 ; xref: OMIM:136352 ; xref: UNIPROTKB/SWISSPROT:P35916 ; xref: ENSEMBL:ENSG00000037280 ; xref: REACTOME:P35916]
Gene [OrphaNum:122110 ; Name:Gap junction protein, gamma 2, 47kDa ; Symbol:GJC2 ; xref: GENATLAS:GJC2 ; xref: HGNC:17494 ; xref: OMIM:608803 ; xref: UNIPROTKB/SWISSPROT:Q5T442 ; xref: REACTOME:Q5T442 ; xref: ENSEMBL:ENSG00000198835]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79458
Follicular atrophoderma-basal cell carcinoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79459
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473
prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null;
Gene [OrphaNum:117969 ; Name:Protoporphyrinogen oxidase ; Symbol:PPOX ; xref: GENATLAS:PPOX ; xref: HGNC:9280 ; xref: OMIM:600923 ; xref: UNIPROTKB/SWISSPROT:P50336 ; xref: REACTOME:P50336 ; xref: ENSEMBL:ENSG00000143224]
Gene [OrphaNum:123411 ; Name:Hemochromatosis gene ; Symbol:HFE ; xref: OMIM:613609 ; xref: GENATLAS:HFE ; xref: HGNC:4886 ; xref: UNIPROTKB/SWISSPROT:Q30201 ; xref: ENSEMBL:ENSG00000010704]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474
hypopigmentation - neurologic impairment
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476
Hypopigmentation - immunodeficiency with or without neurologic impairment
Gene [OrphaNum:118188 ; Name:RAB27A, member RAS oncogene family ; Symbol:RAB27A ; xref: GENATLAS:RAB27A ; xref: HGNC:9766 ; xref: OMIM:603868 ; xref: UNIPROTKB/SWISSPROT:P51159 ; xref: REACTOME:P51159 ; xref: ENSEMBL:ENSG00000069974]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478
Gene [OrphaNum:123279 ; Name:Melanophilin ; Symbol:MLPH ; xref: GENATLAS:MLPH ; xref: HGNC:29643 ; xref: OMIM:606526 ; xref: UNIPROTKB/SWISSPROT:Q9BV36 ; xref: ENSEMBL:ENSG00000115648]
Cutis verticis gyrata - thyroid aplasia - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79482
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79491
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79492
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493
X-linked congenital generalized hypertrichosis
Congenital generalized hypertrichosis, Macias-Flores type
Macias Flores-Garcia Cruz-Rivera syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495
Deafness - onychodystrophy, autosomal dominant
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499
Deafness - onychodystrophy, autosomal recessive
Deafness - onycho-osteodystrophy - intellectual deficit
Deafness - onychodystrophy - osteodystrophy - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500
Palmoplantar punctate keratoderma type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501
Palmoplantar punctate keratoderma type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1702
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79504
Cholesterol-ester transfer protein deficiency
Gene [OrphaNum:119357 ; Name:Cholesteryl ester transfer protein, plasma ; Symbol:CETP ; xref: GENATLAS:CETP ; xref: HGNC:1869 ; xref: OMIM:118470 ; xref: UNIPROTKB/SWISSPROT:P11597 ; xref: REACTOME:P11597 ; xref: ENSEMBL:ENSG00000087237]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79506
Gene [OrphaNum:160053 ; Name:Apolipoprotein C-III ; Symbol:APOC3 ; xref: GENATLAS:APOC3 ; xref: OMIM:107720 ; xref: HGNC:610 ; xref: UNIPROTKB/SWISSPROT:P02656 ; xref: REACTOME:P02656 ; xref: ENSEMBL:ENSG00000110245]
Hypotonia - failure to thrive - microcephaly
Gene [OrphaNum:123313 ; Name:Leukotriene C4 synthase ; Symbol:LTC4S ; xref: ENSEMBL:ENSG00000213316 ; xref: GENATLAS:LTC4S ; xref: HGNC:6719 ; xref: OMIM:246530 ; xref: UNIPROTKB/SWISSPROT:Q16873 ; xref: REACTOME:Q16873]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1703
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
Gene [OrphaNum:117665 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ; Symbol:ABCC8 ; xref: GENATLAS:ABCC8 ; xref: HGNC:59 ; xref: OMIM:600509 ; xref: UNIPROTKB/SWISSPROT:Q09428 ; xref: ENSEMBL:ENSG00000006071 ; xref: REACTOME:Q09428]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651
Gene [OrphaNum:123393 ; Name:Adenomatosis polyposis coli gene ; Symbol:APC ; xref: GENATLAS:APC ; xref: HGNC:583 ; xref: UNIPROTKB/SWISSPROT:P25054 ; xref: OMIM:611731 ; xref: REACTOME:P25054 ; xref: ENSEMBL:ENSG00000134982]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665
Ehlers-Danlos syndrome with periventricular heterotopia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82004
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked dominant;
Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705
Gene [OrphaNum:133452 ; Name:Survival of motor neuron 1, telomeric ; Symbol:SMN1 ; xref: GENATLAS:SMN1 ; xref: HGNC:11117 ; xref: OMIM:600354 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: REACTOME:Q16637 ; xref: ENSEMBL:ENSG00000172062]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330
Gene [OrphaNum:119750 ; Name:Survival of motor neuron 2, centromeric ; Symbol:SMN2 ; xref: GENATLAS:SMN2 ; xref: HGNC:11118 ; xref: OMIM:601627 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: ENSEMBL:ENSG00000205571 ; xref: REACTOME:Q16637]
Gene [OrphaNum:123680 ; Name:NLR family, apoptosis inhibitory protein ; Symbol:NAIP ; xref: GENATLAS:NAIP ; xref: HGNC:7634 ; xref: OMIM:600355 ; xref: UNIPROTKB/SWISSPROT:Q13075 ; xref: ENSEMBL:ENSG00000249437]
Chronic infantile spinal muscular atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Inappropriate antidiuretic hormone secretion syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83449
Gene [OrphaNum:118947 ; Name:Arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ; Symbol:AVPR2 ; xref: GENATLAS:AVPR2 ; xref: HGNC:897 ; xref: OMIM:300538 ; xref: UNIPROTKB/SWISSPROT:P30518 ; xref: ENSEMBL:ENSG00000126895 ; xref: IUPHAR:368 ; xref: REACTOME:P30518]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83450
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83451
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal;
Gene [OrphaNum:122172 ; Name:Glomulin, FKBP associated protein ; Symbol:GLMN ; xref: GENATLAS:GLMN ; xref: HGNC:14373 ; xref: OMIM:601749 ; xref: UNIPROTKB/SWISSPROT:Q92990 ; xref: ENSEMBL:ENSG00000174842]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454
Gene [OrphaNum:121900 ; Name:Forkhead box E3 ; Symbol:FOXE3 ; xref: GENATLAS:FOXE3 ; xref: HGNC:3808 ; xref: OMIM:601094 ; xref: UNIPROTKB/SWISSPROT:Q13461 ; xref: ENSEMBL:ENSG00000186790]
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463
Gene [OrphaNum:292088 ; Name:Teashirt zinc finger homeobox 1 ; Symbol:TSHZ1 ; xref: HGNC:10669 ; xref: OMIM:614427 ; xref: GENATLAS:TSHZ1 ; xref: UNIPROTKB/SWISSPROT:Q6ZSZ6 ; xref: ENSEMBL:ENSG00000179981]
Immunodeficiency due to absence of thymus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities
Gene [OrphaNum:244368 ; Name:Zinc finger protein 592 ; Symbol:ZNF592 ; xref: GENATLAS:ZNF592 ; xref: HGNC:28986 ; xref: UNIPROTKB/SWISSPROT:Q92610 ; xref: OMIM:613624 ; xref: ENSEMBL:ENSG00000166716]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617
Macrostomia - preauricular tags - external ophthalmoplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Gene [OrphaNum:123767 ; Name:Neurogenin 3 ; Symbol:NEUROG3 ; xref: GENATLAS:NEUROG3 ; xref: HGNC:13806 ; xref: OMIM:604882 ; xref: UNIPROTKB/SWISSPROT:Q9Y4Z2 ; xref: ENSEMBL:ENSG00000122859 ; xref: REACTOME:Q9Y4Z2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620
Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713
Gene [OrphaNum:118220 ; Name:Retinoic acid induced 1 ; Symbol:RAI1 ; xref: GENATLAS:RAI1 ; xref: HGNC:9834 ; xref: OMIM:607642 ; xref: UNIPROTKB/SWISSPROT:Q7Z5J4 ; xref: ENSEMBL:ENSG00000108557]
Leukoencephalopathy - metaphyseal chondrodysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked recessive;
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Gene [OrphaNum:117818 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class M ; Symbol:PIGM ; xref: GENATLAS:PIGM ; xref: HGNC:18858 ; xref: OMIM:610273 ; xref: UNIPROTKB/SWISSPROT:Q9H3S5 ; xref: REACTOME:Q9H3S5 ; xref: ENSEMBL:ENSG00000143315]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639
Microcytic anemia with liver iron overload
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642
Gene [OrphaNum:118732 ; Name:Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ; Symbol:SLC11A2 ; xref: GENATLAS:SLC11A2 ; xref: HGNC:10908 ; xref: OMIM:600523 ; xref: UNIPROTKB/SWISSPROT:P49281 ; xref: REACTOME:P49281 ; xref: ENSEMBL:ENSG00000110911]
X-linked recessive intellectual deficit - macrocephaly - ciliary dysfunction
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83648
Gene [OrphaNum:299641 ; Name:Superkiller viralicidic activity 2-like (S. cerevisiae) ; Symbol:SKIV2L ; xref: HGNC:10898 ; xref: OMIM:600478 ; xref: GENATLAS:SKIV2L ; xref: UNIPROTKB/SWISSPROT:Q15477]
Gene [OrphaNum:238544 ; Name:Tetratricopeptide repeat domain 37 ; Symbol:TTC37 ; xref: ENSEMBL:ENSG00000198677 ; xref: HGNC:23639 ; xref: UNIPROTKB/SWISSPROT:Q6PGP7 ; xref: OMIM:614589 ; xref: GENATLAS:TTC37]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064
Idiopathic malabsorption due to bile acid synthesis defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065
Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081
Gene [OrphaNum:117853 ; Name:Polycystic kidney and hepatic disease 1 (autosomal recessive) ; Symbol:PKHD1 ; xref: GENATLAS:PKHD1 ; xref: HGNC:9016 ; xref: OMIM:606702 ; xref: UNIPROTKB/SWISSPROT:Q8TCZ9 ; xref: ENSEMBL:ENSG00000170927 ; xref: REACTOME:Q8TCZ9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84085
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal;
Glomerulopathy with fibronectin deposits
Gene [OrphaNum:159592 ; Name:Fibronectin 1 ; Symbol:FN1 ; xref: GENATLAS:FN1 ; xref: HGNC:3778 ; xref: OMIM:135600 ; xref: UNIPROTKB/SWISSPROT:P02751 ; xref: ENSEMBL:ENSG00000115414 ; xref: REACTOME:P02751]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84093
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84096
Desmin-related myopathy with Mallory body-like inclusions
Gene [OrphaNum:118596 ; Name:Selenoprotein N, 1 ; Symbol:SEPN1 ; xref: GENATLAS:SEPN1 ; xref: HGNC:15999 ; xref: OMIM:606210 ; xref: UNIPROTKB/SWISSPROT:Q9NZV5 ; xref: ENSEMBL:ENSG00000162430]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142
Sporadic idiopathic steroid-resistant nephrotic syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84271
Familial encephalopathy with neuroserpin inclusion bodies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110
Gene [OrphaNum:118623 ; Name:Serpin peptidase inhibitor, clade I (neuroserpin), member 1 ; Symbol:SERPINI1 ; xref: GENATLAS:SERPINI1 ; xref: HGNC:8943 ; xref: OMIM:602445 ; xref: UNIPROTKB/SWISSPROT:Q99574 ; xref: ENSEMBL:ENSG00000163536]
Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112
Gene [OrphaNum:118415 ; Name:R-spondin homolog (Xenopus laevis) ; Symbol:RSPO1 ; xref: GENATLAS:RSPO1 ; xref: HGNC:21679 ; xref: OMIM:609595 ; xref: UNIPROTKB/SWISSPROT:Q2MKA7 ; xref: ENSEMBL:ENSG00000169218]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128
Cystic leukoencephalopathy without megalencephaly
Gene [OrphaNum:201560 ; Name:Ribonuclease T2 ; Symbol:RNASET2 ; xref: ENSEMBL:ENSG00000026297 ; xref: GENATLAS:RNASET2 ; xref: HGNC:21686 ; xref: UNIPROTKB/SWISSPROT:O00584 ; xref: OMIM:612944]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136
Gene [OrphaNum:140044 ; Name:Four and a half LIM domains 1 ; Symbol:FHL1 ; xref: UNIPROTKB/SWISSPROT:Q13642 ; xref: GENATLAS:FHL1 ; xref: HGNC:3702 ; xref: OMIM:300163 ; xref: ENSEMBL:ENSG00000022267]
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked dominant;
Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146
Facial onset sensory and motor neuronopathy
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163
Gene [OrphaNum:121688 ; Name:Family with sequence similarity 126, member A ; Symbol:FAM126A ; xref: GENATLAS:FAM126A ; xref: HGNC:24587 ; xref: OMIM:610531 ; xref: UNIPROTKB/SWISSPROT:Q9BYI3 ; xref: ENSEMBL:ENSG00000122591]
Camptodactyly - tall stature - scoliosis - hearing loss
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164
Severe achondroplasia - developmental delay - acanthosis nigricans
Cirrhosis associated with cardiac dysfunction
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type
Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166
Spondylometaphyseal dysplasia - cone-rod dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168
Familial digital arthropathy-brachydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169
Mesomelic dysplasia with absent fibulas and triangular tibias
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172
Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175
Infantile osteopetrosis with neuroaxonal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179
Diaphyseal medullary stenosis - bone malignancy
Diaphyseal medullary stenosis - malignant fibrous histiocytoma
Gene [OrphaNum:299625 ; Name:Methylthioadenosine phosphorylase ; Symbol:MTAP ; xref: HGNC:7413 ; xref: OMIM:156540 ; xref: GENATLAS:MTAP ; xref: UNIPROTKB/SWISSPROT:Q13126]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182
Craniometadiaphyseal dysplasia, wormian bone type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184
Endosteal sclerosis - cerebellar hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186
Metaphyseal dysplasia, Braun-Tinschert type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191
Calvarial doughnut lesions - bone fragility
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194
Hereditary expansile polyostotic osteolytic dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195
Gene [OrphaNum:120160 ; Name:Tumor necrosis factor receptor superfamily, member 11a, NFKB activator ; Symbol:TNFRSF11A ; xref: GENATLAS:TNFRSF11A ; xref: HGNC:11908 ; xref: OMIM:603499 ; xref: UNIPROTKB/SWISSPROT:Q9Y6Q6 ; xref: ENSEMBL:ENSG00000141655]
Nodulosis-arthropathy-osteolysis syndrome
Multicentric osteolysis - nodulosis - arthropathy
Gene [OrphaNum:123439 ; Name:Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) ; Symbol:MMP2 ; xref: GENATLAS:MMP2 ; xref: HGNC:7166 ; xref: OMIM:120360 ; xref: UNIPROTKB/SWISSPROT:P08253 ; xref: ENSEMBL:ENSG00000087245 ; xref: REACTOME:P08253]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85196
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Sporadic;
Craniosynostosis - anal anomalies - porokeratosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85200
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit
Gene [OrphaNum:285156 ; Name:K(lysine) Acetyltransferase 6B ; Symbol:KAT6B ; xref: HGNC:17582 ; xref: OMIM:605880 ; xref: UNIPROTKB/SWISSPROT:Q8WYB5 ; xref: ENSEMBL:ENSG00000156650 ; xref: GENATLAS:KAT6B]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201
Pulmonic stenosis - brachytelephalangism - calcification of cartilages
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202
Gene [OrphaNum:123219 ; Name:Matrix Gla protein ; Symbol:MGP ; xref: GENATLAS:MGP ; xref: HGNC:7060 ; xref: OMIM:154870 ; xref: UNIPROTKB/SWISSPROT:P08493 ; xref: ENSEMBL:ENSG00000111341]
Syndactyly - preaxial polydactyly - sternal deformity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5;
Intellectual deficit, X-linked, Abidi type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273
Syndromic X-linked intellectual deficit 7
X-linked intellectual deficit, Ahmad type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- X-linked recessive;
Microphthalmia - ankyloblepharon - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275
Intellectual deficit, X-linked, Armfield type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276
Intellectual deficit, X-linked, Cantagrel type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277
Gene [OrphaNum:122838 ; Name:KIAA2022 ; Symbol:KIAA2022 ; xref: GENATLAS:KIAA2022 ; xref: HGNC:29433 ; xref: OMIM:300524 ; xref: UNIPROTKB/SWISSPROT:Q5QGS0 ; xref: ENSEMBL:ENSG00000050030]
X-linked intellectual deficit, South African type
X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant;
Gene [OrphaNum:158415 ; Name:Solute carrier family 9 (sodium/hydrogen exchanger), member 6 ; Symbol:SLC9A6 ; xref: GENATLAS:SLC9A6 ; xref: HGNC:11079 ; xref: OMIM:300231 ; xref: UNIPROTKB/SWISSPROT:Q92581 ; xref: ENSEMBL:ENSG00000198689 ; xref: REACTOME:Q92581]
Syndromic X-linked intellectual deficit due to JARID1C mutation
Gene [OrphaNum:122732 ; Name:Lysine (K)-specific demethylase 5C ; Symbol:KDM5C ; xref: OMIM:314690 ; xref: UNIPROTKB/SWISSPROT:P41229 ; xref: GENATLAS:JARID1C ; xref: HGNC:11114 ; xref: ENSEMBL:ENSG00000126012]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279
Intellectual deficit, X-linked - cubitus valgus - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280
X-linked intellectual deficit - epileptic seizures - hypogenitalism - microcephaly - obesity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive;
Intellectual deficit, X-linked, Miles-Carpenter type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284
Gene [OrphaNum:189135 ; Name:Membrane-bound transcription factor peptidase, site 2 ; Symbol:MBTPS2 ; xref: GENATLAS:MBTPS2 ; xref: HGNC:15455 ; xref: ENSEMBL:ENSG00000012174 ; xref: OMIM:300294 ; xref: UNIPROTKB/SWISSPROT:O43462 ; xref: REACTOME:O43462]
Intellectual deficit, X-linked, Schimke type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285
Intellectual deficit, X-linked, Shashi type
Syndromic X-linked intellectual deficit type 11
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286
Intellectual deficit, X-linked, Siderius type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287
Gene [OrphaNum:138583 ; Name:PHD finger protein 8 ; Symbol:PHF8 ; xref: GENATLAS:PHF8 ; xref: HGNC:20672 ; xref: OMIM:300560 ; xref: UNIPROTKB/SWISSPROT:Q9UPP1 ; xref: ENSEMBL:ENSG00000172943]
Intellectual deficit, X-linked, Stocco Dos Santos type
Gene [OrphaNum:118713 ; Name:Shroom family member 4 ; Symbol:SHROOM4 ; xref: GENATLAS:SHROOM4 ; xref: HGNC:29215 ; xref: OMIM:300579 ; xref: UNIPROTKB/SWISSPROT:Q9ULL8 ; xref: ENSEMBL:ENSG00000158352]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288
Intellectual deficit, X-linked, Vitale type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85289
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
Intellectual deficit, X-linked, Wilson type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290
Intellectual deficit, X-linked, Wittwer type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85291
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292
X-linked intellectual deficit, Cabezas type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293
Gene [OrphaNum:120908 ; Name:Cullin 4B ; Symbol:CUL4B ; xref: GENATLAS:CUL4B ; xref: HGNC:2555 ; xref: OMIM:300304 ; xref: UNIPROTKB/SWISSPROT:Q13620 ; xref: ENSEMBL:ENSG00000158290]
X-linked epilepsy - learning disabilities - behavior disorders
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive;
Gene [OrphaNum:119906 ; Name:Synapsin I ; Symbol:SYN1 ; xref: GENATLAS:SYN1 ; xref: HGNC:11494 ; xref: OMIM:313440 ; xref: UNIPROTKB/SWISSPROT:P17600 ; xref: REACTOME:P17600 ; xref: ENSEMBL:ENSG00000008056]
Intellectual deficit, X-linked - choreoathetosis - abnormal behavior
Syndromic X-linked intellectual deficit type 10
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317
Intellectual deficit, X-linked - precocious puberty - obesity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85318
Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319
Intellectual deficit, X-linked - macrocephaly - macro-orchidism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320
Deafness - intellectual deficit, Martin-Probst type
X-linked deafness - intellectual deficit syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321
Gene [OrphaNum:303717 ; Name:RAB40A, member RAS oncogene family-like ; Symbol:RAB40AL ; xref: HGNC:25410 ; xref: OMIM:300405 ; xref: GENATLAS:RAB40AL ; xref: UNIPROTKB/SWISSPROT:P0C0E4]
Intellectual deficit, X-linked, Pai type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322
Intellectual deficit, X-linked, Seemanova type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323
Intellectual deficit, X-linked, Shrimpton type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324
Intellectual deficit, X-linked, Stevenson type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325
X-linked intellectual deficit, Stoll type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326
Intellectual deficit, X-linked - acromegaly - hyperactivity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327
Intellectual deficit, X-linked, Turner type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85328
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant;
Gene [OrphaNum:209314 ; Name:HECT, UBA and WWE domain containing 1 ; Symbol:HUWE1 ; xref: REACTOME:Q7Z6Z7 ; xref: ENSEMBL:ENSG00000086758 ; xref: GENATLAS:HUWE1 ; xref: HGNC:30892 ; xref: OMIM:300697 ; xref: UNIPROTKB/SWISSPROT:Q7Z6Z7]
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329
Gene [OrphaNum:121577 ; Name:Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) ; Symbol:EPM2A ; xref: GENATLAS:EPM2A ; xref: HGNC:3413 ; xref: OMIM:607566 ; xref: UNIPROTKB/SWISSPROT:O95278 ; xref: ENSEMBL:ENSG00000112425]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501
Gene [OrphaNum:123779 ; Name:NHL repeat containing 1 ; Symbol:NHLRC1 ; xref: GENATLAS:NHLRC1 ; xref: HGNC:21576 ; xref: OMIM:608072 ; xref: UNIPROTKB/SWISSPROT:Q6VVB1 ; xref: ENSEMBL:ENSG00000187566]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Intellectual deficit, X-linked - corpus callosum agenesis - spastic quadriparesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85330
Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85331
Intellectual deficit, X-linked - retinitis pigmentosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive;
X-linked neurodegenerative syndrome, Bertini type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335
Gene [OrphaNum:137988 ; Name:adaptor-related protein complex 1, sigma 2 subunit ; Symbol:AP1S2 ; xref: GENATLAS:AP1S2 ; xref: HGNC:560 ; xref: OMIM:300629 ; xref: UNIPROTKB/SWISSPROT:P56377 ; xref: REACTOME:P56377 ; xref: ENSEMBL:ENSG00000182287]
X-linked neurodegenerative syndrome, Hamel type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336
Intellectual deficit, X-linked, Zorick type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85337
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive;
X-linked intellectual deficit - ataxia - apraxia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338
Short stature - pituitary and cerebellar defects - small sella turcica
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442
Gene [OrphaNum:138383 ; Name:LIM homeobox 4 ; Symbol:LHX4 ; xref: HGNC:21734 ; xref: OMIM:602146 ; xref: UNIPROTKB/SWISSPROT:Q969G2 ; xref: GENATLAS:LHX4 ; xref: ENSEMBL:ENSG00000121454]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
Gene [OrphaNum:122589 ; Name:Immunoglobulin heavy constant gamma 1 (G1m marker) ; Symbol:IGHG1 ; xref: GENATLAS:IGHG1 ; xref: HGNC:5525 ; xref: OMIM:147100 ; xref: UNIPROTKB/SWISSPROT:P01857 ; xref: REACTOME:P01857 ; xref: ENSEMBL:ENSG00000211896]
Gene [OrphaNum:121380 ; Name:Apolipoprotein A-I ; Symbol:APOA1 ; xref: GENATLAS:APOA1 ; xref: HGNC:600 ; xref: OMIM:107680 ; xref: UNIPROTKB/SWISSPROT:P02647 ; xref: ENSEMBL:ENSG00000118137 ; xref: REACTOME:P02647]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447
Gene [OrphaNum:120337 ; Name:Transthyretin (prealbumin, amyloidosis type I) ; Symbol:TTR ; xref: HGNC:12405 ; xref: OMIM:176300 ; xref: UNIPROTKB/SWISSPROT:P02766 ; xref: GENATLAS:TTR ; xref: REACTOME:P02766 ; xref: ENSEMBL:ENSG00000118271]
Gene [OrphaNum:122296 ; Name:Gelsolin (amyloidosis, Finnish type) ; Symbol:GSN ; xref: GENATLAS:GSN ; xref: HGNC:4620 ; xref: OMIM:137350 ; xref: UNIPROTKB/SWISSPROT:P06396 ; xref: ENSEMBL:ENSG00000148180 ; xref: REACTOME:P06396]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450
Transthyretin-related familial amyloid cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant;
X-linked reticulate pigmentary disorder with systemic manifestations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453
Hereditary cerebral hemorrhage with amyloidosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type Ij
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309
Gene [OrphaNum:121158 ; Name:Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) ; Symbol:DPAGT1 ; xref: GENATLAS:DPAGT1 ; xref: HGNC:2995 ; xref: OMIM:191350 ; xref: UNIPROTKB/SWISSPROT:Q9H3H5 ; xref: ENSEMBL:ENSG00000172269 ; xref: REACTOME:Q9H3H5]
Gene [OrphaNum:120490 ; Name:Wiskott-Aldrich syndrome (eczema-thrombocytopenia) ; Symbol:WAS ; xref: GENATLAS:WAS ; xref: HGNC:12731 ; xref: OMIM:300392 ; xref: UNIPROTKB/SWISSPROT:P42768 ; xref: ENSEMBL:ENSG00000015285 ; xref: REACTOME:P42768]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789
Autosomal recessive limb-girdle muscular dystrophy type 2K
Limb-girdle muscular dystrophy - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812
Gene [OrphaNum:117939 ; Name:Protein-O-mannosyltransferase 1 ; Symbol:POMT1 ; xref: GENATLAS:POMT1 ; xref: HGNC:9202 ; xref: OMIM:607423 ; xref: UNIPROTKB/SWISSPROT:Q9Y6A1 ; xref: ENSEMBL:ENSG00000130714]
Helicoid peripapillary chorioretinal degeneration
Gene [OrphaNum:120010 ; Name:TEA domain family member 1 (SV40 transcriptional enhancer factor) ; Symbol:TEAD1 ; xref: GENATLAS:TEAD1 ; xref: HGNC:11714 ; xref: OMIM:189967 ; xref: UNIPROTKB/SWISSPROT:P28347 ; xref: ENSEMBL:ENSG00000187079 ; xref: REACTOME:P28347]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813
Benign adult familial myoclonic epilepsy
Autosomal dominant cortical myoclonus and epilepsy
Familial cortical myoclonic tremor and epilepsy
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Elderly; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814
Congenital absence of lacrimal puncta and salivary glands
Gene [OrphaNum:121794 ; Name:Fibroblast growth factor 10 ; Symbol:FGF10 ; xref: GENATLAS:FGF10 ; xref: HGNC:3666 ; xref: OMIM:602115 ; xref: UNIPROTKB/SWISSPROT:O15520 ; xref: REACTOME:O15520 ; xref: ENSEMBL:ENSG00000070193]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86815
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Gene [OrphaNum:119576 ; Name:Albumin ; Symbol:ALB ; xref: GENATLAS:ALB ; xref: HGNC:399 ; xref: OMIM:103600 ; xref: UNIPROTKB/SWISSPROT:P02768 ; xref: REACTOME:P02768 ; xref: ENSEMBL:ENSG00000163631]
Hemolytic anemia due to adenylate kinase deficiency
Gene [OrphaNum:119567 ; Name:Adenylate kinase 1 ; Symbol:AK1 ; xref: GENATLAS:AK1 ; xref: HGNC:361 ; xref: OMIM:103000 ; xref: UNIPROTKB/SWISSPROT:P00568 ; xref: REACTOME:P00568 ; xref: ENSEMBL:ENSG00000106992]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818
Gene [OrphaNum:119662 ; Name:Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1 ; Symbol:AMMECR1 ; xref: GENATLAS:AMMECR1 ; xref: HGNC:467 ; xref: OMIM:300195 ; xref: UNIPROTKB/SWISSPROT:Q9Y4X0 ; xref: ENSEMBL:ENSG00000101935]
Gene [OrphaNum:117743 ; Name:Acyl-CoA synthetase long-chain family member 4 ; Symbol:ACSL4 ; xref: GENATLAS:ACSL4 ; xref: HGNC:3571 ; xref: OMIM:300157 ; xref: UNIPROTKB/SWISSPROT:O60488 ; xref: ENSEMBL:ENSG00000068366 ; xref: REACTOME:O60488]
Gene [OrphaNum:122768 ; Name:KCNE1-like ; Symbol:KCNE1L ; xref: GENATLAS:KCNE1L ; xref: HGNC:6241 ; xref: OMIM:300328 ; xref: UNIPROTKB/SWISSPROT:Q9UJ90 ; xref: ENSEMBL:ENSG00000176076]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819
Gene [OrphaNum:122495 ; Name:Hairless homolog (mouse) ; Symbol:HR ; xref: GENATLAS:HR ; xref: HGNC:5172 ; xref: OMIM:602302 ; xref: UNIPROTKB/SWISSPROT:O43593 ; xref: ENSEMBL:ENSG00000168453]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738
Familial avascular necrosis of femoral head
Familial osteonecrosis of the femoral head
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820
Lissencephaly type 3 - familial fetal akinesia sequence
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821
Lissencephaly type 3 - metacarpal bone dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822
Lissencephaly with cerebellar hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742
Hypothalamic hamartomas with gelastic seizures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906
Hemiconvulsion-Hemiplegia-Epilepsy syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909
Gene [OrphaNum:239943 ; Name:TBC1 domain family, member 24 ; Symbol:TBC1D24 ; xref: GENATLAS:TBC1D24 ; xref: HGNC:29203 ; xref: OMIM:613577 ; xref: UNIPROTKB/SWISSPROT:Q9ULP9 ; xref: ENSEMBL:ENSG00000162065]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911
Myoclonic epilepsy in non-progressive encephalopathies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913
Lymphedema - cerebral arteriovenous anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914
Lymphedema - atrial septal defects - facial changes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86917
Diffuse palmoplantar keratoderma - acrocyanosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918
Keratosis palmaris et plantaris - clinodactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920
Rolled and spiral hairs - palmoplantar keratoderma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86921
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86922
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Keratoderma palmoplantar, Norrbotten recessive type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86923
prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive;
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399
Gene [OrphaNum:122387 ; Name:Huntingtin (Huntington disease) ; Symbol:HTT ; xref: GENATLAS:HTT ; xref: HGNC:4851 ; xref: OMIM:613004 ; xref: UNIPROTKB/SWISSPROT:P42858 ; xref: ENSEMBL:ENSG00000197386]
Keratosis palmoplantaris transgrediens of Siemens
Gene [OrphaNum:119720 ; Name:Secreted LY6/PLAUR domain containing 1 ; Symbol:SLURP1 ; xref: GENATLAS:SLURP1 ; xref: HGNC:18746 ; xref: OMIM:606119 ; xref: UNIPROTKB/SWISSPROT:P55000 ; xref: ENSEMBL:ENSG00000126233]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884
Autosomal recessive nonsyndromic intellectual deficit
Gene [OrphaNum:159945 ; Name:Tumor suppressor candidate 3 ; Symbol:TUSC3 ; xref: GENATLAS:TUSC3 ; xref: HGNC:30242 ; xref: OMIM:601385 ; xref: UNIPROTKB/SWISSPROT:Q13454 ; xref: ENSEMBL:ENSG00000104723 ; xref: REACTOME:Q13454]
Gene [OrphaNum:205590 ; Name:Glutamate receptor, ionotropic, kainate 2 ; Symbol:GRIK2 ; xref: GENATLAS:GRIK2 ; xref: ENSEMBL:ENSG00000164418 ; xref: IUPHAR:451 ; xref: REACTOME:Q13002 ; xref: HGNC:4580 ; xref: OMIM:138244 ; xref: UNIPROTKB/SWISSPROT:Q13002]
Gene [OrphaNum:279764 ; Name:Mediator complex subunit 23 ; Symbol:MED23 ; xref: ENSEMBL:ENSG00000112282 ; xref: REACTOME:Q9ULK4 ; xref: HGNC:2372 ; xref: OMIM:605042 ; xref: UNIPROTKB/SWISSPROT:Q9ULK4 ; xref: GENATLAS:MED23]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616
Gene [OrphaNum:279756 ; Name:Mannosidase, alpha, class 1B, member 1 ; Symbol:MAN1B1 ; xref: REACTOME:Q9UKM7 ; xref: ENSEMBL:ENSG00000177239 ; xref: HGNC:6823 ; xref: OMIM:604346 ; xref: UNIPROTKB/SWISSPROT:Q9UKM7 ; xref: GENATLAS:MAN1B1]
Gene [OrphaNum:285223 ; Name:ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3 ; Symbol:ST3GAL3 ; xref: ENSEMBL:ENSG00000126091 ; xref: REACTOME:Q11203 ; xref: GENATLAS:ST3GAL3 ; xref: HGNC:10866 ; xref: OMIM:606494 ; xref: UNIPROTKB/SWISSPROT:Q11203]
Gene [OrphaNum:285400 ; Name:Zinc finger protein 26 ; Symbol:ZNF26 ; xref: GENATLAS:ZNF26 ; xref: OMIM:194537 ; xref: HGNC:13053 ; xref: UNIPROTKB/SWISSPROT:P17031 ; xref: ENSEMBL:ENSG00000198393 ; xref: REACTOME:P17031]
Gene [OrphaNum:119202 ; Name:Coiled-coil and C2 domain containing 1A ; Symbol:CC2D1A ; xref: GENATLAS:CC2D1A ; xref: HGNC:30237 ; xref: OMIM:610055 ; xref: UNIPROTKB/SWISSPROT:Q6P1N0 ; xref: ENSEMBL:ENSG00000132024]
Gene [OrphaNum:218049 ; Name:Trafficking protein particle complex 9 ; Symbol:TRAPPC9 ; xref: ENSEMBL:ENSG00000167632 ; xref: GENATLAS:TRAPPC9 ; xref: HGNC:30832 ; xref: OMIM:611966 ; xref: UNIPROTKB/SWISSPROT:Q96Q05]
Gene [OrphaNum:118083 ; Name:Protease, serine, 12 (neurotrypsin, motopsin) ; Symbol:PRSS12 ; xref: GENATLAS:PRSS12 ; xref: HGNC:9477 ; xref: OMIM:606709 ; xref: UNIPROTKB/SWISSPROT:P56730 ; xref: ENSEMBL:ENSG00000164099]
Gene [OrphaNum:270389 ; Name:KIAA1033 ; Symbol:KIAA1033 ; xref: ENSEMBL:ENSG00000136051 ; xref: UNIPROTKB/SWISSPROT:Q2M389 ; xref: HGNC:29174 ; xref: GENATLAS:KIAA1033]
Gene [OrphaNum:285406 ; Name:Zinc finger CCCH-type containing 14 ; Symbol:ZC3H14 ; xref: UNIPROTKB/SWISSPROT:Q6PJT7 ; xref: GENATLAS:ZC3H14 ; xref: HGNC:20509 ; xref: OMIM:613279 ; xref: ENSEMBL:ENSG00000100722]
Gene [OrphaNum:265497 ; Name:trans-2,3-enoyl-CoA reductase ; Symbol:TECR ; xref: OMIM:610057 ; xref: ENSEMBL:ENSG00000099797 ; xref: REACTOME:Q9NZ01 ; xref: HGNC:4551 ; xref: GENATLAS:GPSN2 ; xref: UNIPROTKB/SWISSPROT:Q9NZ01]
Gene [OrphaNum:302903 ; Name:NOP2/Sun RNA methyltransferase family, member 2 ; Symbol:NSUN2 ; xref: HGNC:25994 ; xref: OMIM:610916 ; xref: GENATLAS:NSUN2 ; xref: UNIPROTKB/SWISSPROT:Q08J23]
Gene [OrphaNum:303823 ; Name:CASP2 and RIPK1 domain containing adaptor with death domain ; Symbol:CRADD ; xref: HGNC:2340 ; xref: OMIM:603454 ; xref: GENATLAS:CRADD ; xref: UNIPROTKB/SWISSPROT:P78560]
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Gene [OrphaNum:119546 ; Name:S-adenosylhomocysteine hydrolase ; Symbol:AHCY ; xref: GENATLAS:AHCY ; xref: HGNC:343 ; xref: OMIM:180960 ; xref: UNIPROTKB/SWISSPROT:P23526 ; xref: ENSEMBL:ENSG00000101444 ; xref: REACTOME:P23526]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618
Familial acute necrotizing encephalopathy
Recurrent acute necrotizing encephalopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619
Gene [OrphaNum:173526 ; Name:RAN binding protein 2 ; Symbol:RANBP2 ; xref: GENATLAS:RANBP2 ; xref: HGNC:9848 ; xref: OMIM:601181 ; xref: UNIPROTKB/SWISSPROT:P49792 ; xref: ENSEMBL:ENSG00000153201 ; xref: REACTOME:P49792]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621
Gene [OrphaNum:208329 ; Name:Solute carrier family 27 (fatty acid transporter), member 4 ; Symbol:SLC27A4 ; xref: ENSEMBL:ENSG00000167114 ; xref: REACTOME:Q6P1M0 ; xref: GENATLAS:SLC27A4 ; xref: HGNC:10998 ; xref: OMIM:604194 ; xref: UNIPROTKB/SWISSPROT:Q6P1M0]
Posterior column ataxia - retinitis pigmentosa
Autosomal recessive posterior column ataxia and retinitis pigmentosa
Gene [OrphaNum:246647 ; Name:Feline leukemia virus subgroup C cellular receptor 1 ; Symbol:FLVCR1 ; xref: ENSEMBL:ENSG00000162769 ; xref: REACTOME:Q9Y5Y0 ; xref: GENATLAS:FLVCR1 ; xref: HGNC:24682 ; xref: OMIM:609144 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y0]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745
Gene [OrphaNum:124018 ; Name:Opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) ; Symbol:OPN1SW ; xref: GENATLAS:OPN1SW ; xref: HGNC:1012 ; xref: UNIPROTKB/SWISSPROT:P03999 ; xref: OMIM:613522 ; xref: ENSEMBL:ENSG00000128617 ; xref: REACTOME:P03999]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Terminal osseous dysplasia - pigmentary defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked dominant;
Familial ocular anterior segment mesenchymal dysgenesis
Gene [OrphaNum:117844 ; Name:Paired-like homeodomain 3 ; Symbol:PITX3 ; xref: OMIM:602669 ; xref: UNIPROTKB/SWISSPROT:O75364 ; xref: GENATLAS:PITX3 ; xref: HGNC:9006 ; xref: ENSEMBL:ENSG00000107859]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632
Myopathy due to calsequestrin and SERCA1 protein overload
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Unknown;
Aortic dilatation - joint hypermobility - arterial tortuosity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88636
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:285118 ; Name:Polymerase (RNA) III (DNA directed) Polypeptide B ; Symbol:POLR3B ; xref: UNIPROTKB/SWISSPROT:Q9NW08 ; xref: GENATLAS:POLR3B ; xref: OMIM:614366 ; xref: HGNC:30348 ; xref: REACTOME:Q9NW08 ; xref: ENSEMBL:ENSG00000013503]
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Gene [OrphaNum:159703 ; Name:3-hydroxyisobutyryl-Coenzyme A hydrolase gene ; Symbol:HIBCH ; xref: GENATLAS:HIBCH ; xref: HGNC:4908 ; xref: OMIM:610690 ; xref: UNIPROTKB/SWISSPROT:Q6NVY1 ; xref: ENSEMBL:ENSG00000198130 ; xref: REACTOME:Q6NVY1]
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639
Channelopathy-associated congenital insensitivity to pain
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642
Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643
Autosomal recessive cerebellar ataxia type 1
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Gene [OrphaNum:159219 ; Name:Spectrin repeat containing, nuclear envelope 1 ; Symbol:SYNE1 ; xref: ENSEMBL:ENSG00000131018 ; xref: REACTOME:Q8NF91 ; xref: GENATLAS:SYNE1 ; xref: HGNC:17089 ; xref: OMIM:608441 ; xref: UNIPROTKB/SWISSPROT:Q8NF91]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644
Autosomal dominant progressive nephropathy with hypertension
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659
Early-onset hypertension with exacerbation in pregnancy
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Gene [OrphaNum:123920 ; Name:Nuclear receptor subfamily 3, group C, member 2 ; Symbol:NR3C2 ; xref: GENATLAS:NR3C2 ; xref: HGNC:7979 ; xref: OMIM:600983 ; xref: UNIPROTKB/SWISSPROT:P08235 ; xref: IUPHAR:626 ; xref: ENSEMBL:ENSG00000151623 ; xref: REACTOME:P08235]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917
Gene [OrphaNum:120722 ; Name:Collagen, type IV, alpha 5 (Alport syndrome) ; Symbol:COL4A5 ; xref: GENATLAS:COL4A5 ; xref: HGNC:2207 ; xref: OMIM:303630 ; xref: UNIPROTKB/SWISSPROT:P29400 ; xref: ENSEMBL:ENSG00000188153 ; xref: REACTOME:P29400]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918
Gene [OrphaNum:120718 ; Name:Collagen, type IV, alpha 3 (Goodpasture antigen) ; Symbol:COL4A3 ; xref: GENATLAS:COL4A3 ; xref: HGNC:2204 ; xref: OMIM:120070 ; xref: UNIPROTKB/SWISSPROT:Q01955 ; xref: REACTOME:Q01955 ; xref: ENSEMBL:ENSG00000169031]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919
Gene [OrphaNum:120720 ; Name:Collagen, type IV, alpha 4 ; Symbol:COL4A4 ; xref: GENATLAS:COL4A4 ; xref: HGNC:2206 ; xref: OMIM:120131 ; xref: UNIPROTKB/SWISSPROT:P53420 ; xref: REACTOME:P53420 ; xref: ENSEMBL:ENSG00000081052]
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
Gene [OrphaNum:120315 ; Name:Tuberous sclerosis 2 ; Symbol:TSC2 ; xref: GENATLAS:TSC2 ; xref: HGNC:12363 ; xref: OMIM:191092 ; xref: UNIPROTKB/SWISSPROT:P49815 ; xref: ENSEMBL:ENSG00000103197 ; xref: REACTOME:P49815]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924
Gene [OrphaNum:117846 ; Name:Polycystic kidney disease 1 (autosomal dominant) ; Symbol:PKD1 ; xref: GENATLAS:PKD1 ; xref: HGNC:9008 ; xref: OMIM:601313 ; xref: UNIPROTKB/SWISSPROT:P98161 ; xref: ENSEMBL:ENSG00000008710]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88937
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939
Gene [OrphaNum:120534 ; Name:WNK lysine deficient protein kinase 4 ; Symbol:WNK4 ; xref: GENATLAS:WNK4 ; xref: HGNC:14544 ; xref: OMIM:601844 ; xref: UNIPROTKB/SWISSPROT:Q96J92 ; xref: ENSEMBL:ENSG00000126562]
Gene [OrphaNum:120531 ; Name:WNK lysine deficient protein kinase 1 ; Symbol:WNK1 ; xref: GENATLAS:WNK1 ; xref: HGNC:14540 ; xref: OMIM:605232 ; xref: UNIPROTKB/SWISSPROT:Q9H4A3 ; xref: ENSEMBL:ENSG00000060237]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940
Autosomal dominant medullary cystic kidney disease without hyperuricemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949
Autosomal dominant medullary cystic kidney disease with hyperuricemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88993
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89832
Palmoplantar keratoderma with tonotubular keratin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89833
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89834
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762
Gene [OrphaNum:123186 ; Name:Methyl CpG binding protein 2 (Rett syndrome) ; Symbol:MECP2 ; xref: GENATLAS:MECP2 ; xref: HGNC:6990 ; xref: OMIM:300005 ; xref: UNIPROTKB/SWISSPROT:P51608 ; xref: ENSEMBL:ENSG00000169057]
Porokeratosis punctata palmaris et plantaris
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89835
Autosomal recessive epidermolysis bullosa simplex
Gene [OrphaNum:293042 ; Name:Dystonin ; Symbol:DST ; xref: HGNC:1090 ; xref: OMIM:113810 ; xref: GENATLAS:DST ; xref: UNIPROTKB/SWISSPROT:Q03001]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838
Epidermolysis bullosa simplex superficialis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89839
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa generalisata mitis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89840
Centripetal dystrophic epidermolysis bullosa
Centripetalis dystrophic epidermolysis bullosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89841
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842
Pruriginous dystrophic epidermolysis bullosa
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843
Lissencephaly syndrome, Norman-Roberts type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844
Gene [OrphaNum:118272 ; Name:Reelin ; Symbol:RELN ; xref: HGNC:9957 ; xref: OMIM:600514 ; xref: UNIPROTKB/SWISSPROT:P78509 ; xref: GENATLAS:RELN ; xref: ENSEMBL:ENSG00000189056]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89845
Gene [OrphaNum:124239 ; Name:Phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets) ; Symbol:PHEX ; xref: ENSEMBL:ENSG00000102174 ; xref: UNIPROTKB/SWISSPROT:P78562 ; xref: GENATLAS:PHEX ; xref: HGNC:8918 ; xref: OMIM:300550]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked dominant;
Autosomal dominant hypophosphatemic rickets
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937
Infantile Bartter syndrome with deafness
Gene [OrphaNum:159370 ; Name:Chloride channel Ka ; Symbol:CLCNKA ; xref: GENATLAS:CLCNKA ; xref: HGNC:2026 ; xref: OMIM:602024 ; xref: UNIPROTKB/SWISSPROT:P51800 ; xref: ENSEMBL:ENSG00000186510]
Gene [OrphaNum:119089 ; Name:Bartter syndrome, infantile, with sensorineural deafness (Barttin) ; Symbol:BSND ; xref: GENATLAS:BSND ; xref: HGNC:16512 ; xref: OMIM:606412 ; xref: UNIPROTKB/SWISSPROT:Q8WZ55 ; xref: ENSEMBL:ENSG00000162399]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89939
X-linked cone dysfunction syndrome with myopia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001
Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome with short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023
Gene [OrphaNum:165856 ; Name:Roadblock domain containing 3 ; Symbol:ROBLD3 ; xref: GENATLAS:MAPBPIP ; xref: HGNC:29796 ; xref: OMIM:610389 ; xref: UNIPROTKB/SWISSPROT:Q5VY97 ; xref: ENSEMBL:ENSG00000116586]
Deafness with labyrinthine aplasia, microtia, and microdontia
Microdontia - type I microtia - deafness
Gene [OrphaNum:159580 ; Name:Fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) ; Symbol:FGF3 ; xref: GENATLAS:FGF3 ; xref: HGNC:3681 ; xref: OMIM:164950 ; xref: UNIPROTKB/SWISSPROT:P11487 ; xref: REACTOME:P11487 ; xref: ENSEMBL:ENSG00000186895]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026
Hemolytic anemia due to glutathione reductase deficiency
Gene [OrphaNum:122298 ; Name:Glutathione reductase ; Symbol:GSR ; xref: GENATLAS:GSR ; xref: HGNC:4623 ; xref: OMIM:138300 ; xref: UNIPROTKB/SWISSPROT:P00390 ; xref: ENSEMBL:ENSG00000104687 ; xref: REACTOME:P00390]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030
Oculogastrointestinal muscular dystrophy
Visceral myopathy - familial external ophthalmoplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Gene [OrphaNum:122420 ; Name:Hexokinase 1 ; Symbol:HK1 ; xref: GENATLAS:HK1 ; xref: HGNC:4922 ; xref: OMIM:142600 ; xref: UNIPROTKB/SWISSPROT:P19367 ; xref: ENSEMBL:ENSG00000156515 ; xref: REACTOME:P19367]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041
Congenital erythrocytosis due to erythropoietin receptor mutation
Congenital polycythemia due to erythropoietin receptor mutation
Primary familial and congenital polycythemia
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:121581 ; Name:Erythropoietin receptor ; Symbol:EPOR ; xref: GENATLAS:EPOR ; xref: HGNC:3416 ; xref: OMIM:133171 ; xref: UNIPROTKB/SWISSPROT:P19235 ; xref: ENSEMBL:ENSG00000187266]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044
Muscular dystrophy - white matter spongiosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1877
Gene [OrphaNum:139193 ; Name:Solute carrier family 46 (folate transporter), member 1 ; Symbol:SLC46A1 ; xref: GENATLAS:SLC46A1 ; xref: HGNC:30521 ; xref: OMIM:611672 ; xref: UNIPROTKB/SWISSPROT:Q96NT5 ; xref: REACTOME:Q96NT5 ; xref: ENSEMBL:ENSG00000076351]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045
Autosomal recessive limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Gene [OrphaNum:120273 ; Name:Tripartite motif-containing 32 ; Symbol:TRIM32 ; xref: GENATLAS:TRIM32 ; xref: HGNC:16380 ; xref: OMIM:602290 ; xref: UNIPROTKB/SWISSPROT:Q13049 ; xref: ENSEMBL:ENSG00000119401 ; xref: REACTOME:Q13049]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062
Charcot-Marie-Tooth disease - deafness - intellectual deficit
Hereditary motor and sensory neuropathy with deafness, intellectual deficit and absent sensory large myelinated fibers
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, proximal type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117
Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118
Epilepsy - dementia - amelogenesis imperfecta
Gene [OrphaNum:299622 ; Name:Rogdi homolog (Drosophila) ; Symbol:ROGDI ; xref: HGNC:29478 ; xref: OMIM:614574 ; xref: GENATLAS:ROGDI ; xref: UNIPROTKB/SWISSPROT:Q9GZN7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946
Axonal Charcot-Marie-Tooth disease with acrodystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90119
Hereditary motor and sensory neuropathy type 6
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120
Mandibuloacral dysplasia with type A lipodystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153
Mandibuloacral dysplasia with type B lipodystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154
Gene [OrphaNum:120620 ; Name:Zinc metallopeptidase (STE24 homolog, S. cerevisiae) ; Symbol:ZMPSTE24 ; xref: GENATLAS:ZMPSTE24 ; xref: HGNC:12877 ; xref: OMIM:606480 ; xref: UNIPROTKB/SWISSPROT:O75844 ; xref: ENSEMBL:ENSG00000084073]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158
Panniculitis and localized lipodystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159
Epilepsy - microcephaly - skeletal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160
Non hereditary late-onset primary lymphedema
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90185
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333
Gene [OrphaNum:121449 ; Name:N-acylsphingosine amidohydrolase (acid ceramidase) 1 ; Symbol:ASAH1 ; xref: REACTOME:Q13510 ; xref: GENATLAS:ASAH1 ; xref: HGNC:735 ; xref: UNIPROTKB/SWISSPROT:Q13510 ; xref: OMIM:613468 ; xref: ENSEMBL:ENSG00000104763]
Gene [OrphaNum:121878 ; Name:Fragile X mental retardation 1 ; Symbol:FMR1 ; xref: GENATLAS:FMR1 ; xref: HGNC:3775 ; xref: OMIM:309550 ; xref: UNIPROTKB/SWISSPROT:Q06787 ; xref: ENSEMBL:ENSG00000102081]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908
Gene [OrphaNum:159590 ; Name:Fragile X mental retardation associated 3 ; Symbol:FMR3 ; xref: GENATLAS:FMR3 ; xref: HGNC:3777]
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked dominant;
Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301
Gene [OrphaNum:118231 ; Name:RAS p21 protein activator (GTPase activating protein) 1 ; Symbol:RASA1 ; xref: GENATLAS:RASA1 ; xref: HGNC:9871 ; xref: OMIM:139150 ; xref: UNIPROTKB/SWISSPROT:P20936 ; xref: ENSEMBL:ENSG00000145715 ; xref: REACTOME:P20936]
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307
Gene [OrphaNum:119516 ; Name:Angiogenic factor with G patch and FHA domains 1 ; Symbol:AGGF1 ; xref: GENATLAS:AGGF1 ; xref: HGNC:24684 ; xref: OMIM:608464 ; xref: UNIPROTKB/SWISSPROT:Q8N302 ; xref: ENSEMBL:ENSG00000164252]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308
Gene [OrphaNum:120730 ; Name:Collagen, type V, alpha 2 ; Symbol:COL5A2 ; xref: GENATLAS:COL5A2 ; xref: HGNC:2210 ; xref: OMIM:120190 ; xref: UNIPROTKB/SWISSPROT:P05997 ; xref: REACTOME:P05997 ; xref: ENSEMBL:ENSG00000204262]
Gene [OrphaNum:120728 ; Name:Collagen, type V, alpha 1 ; Symbol:COL5A1 ; xref: GENATLAS:COL5A1 ; xref: HGNC:2209 ; xref: OMIM:120215 ; xref: UNIPROTKB/SWISSPROT:P20908 ; xref: ENSEMBL:ENSG00000130635 ; xref: REACTOME:P20908]
Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90309
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90318
Gene [OrphaNum:121599 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 6 ; Symbol:ERCC6 ; xref: GENATLAS:ERCC6 ; xref: HGNC:3438 ; xref: OMIM:609413 ; xref: UNIPROTKB/SWISSPROT:Q03468 ; xref: REACTOME:Q03468 ; xref: ENSEMBL:ENSG00000225830]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321
Gene [OrphaNum:121604 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 8 ; Symbol:ERCC8 ; xref: GENATLAS:ERCC8 ; xref: HGNC:3439 ; xref: OMIM:609412 ; xref: UNIPROTKB/SWISSPROT:Q13216 ; xref: REACTOME:Q13216 ; xref: ENSEMBL:ENSG00000049167]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324
Congenital generalized hypertrichosis, Ambras type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90336
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90338
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90339
Gene [OrphaNum:123845 ; Name:Nucleotide-binding oligomerization domain containing 2 ; Symbol:NOD2 ; xref: ENSEMBL:ENSG00000167207 ; xref: REACTOME:Q9HC29 ; xref: GENATLAS:NOD2 ; xref: HGNC:5331 ; xref: OMIM:605956 ; xref: UNIPROTKB/SWISSPROT:Q9HC29]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90341
Gene [OrphaNum:117931 ; Name:Polymerase (DNA directed), eta ; Symbol:POLH ; xref: GENATLAS:POLH ; xref: HGNC:9181 ; xref: OMIM:603968 ; xref: UNIPROTKB/SWISSPROT:Q9Y253 ; xref: ENSEMBL:ENSG00000170734 ; xref: REACTOME:Q9Y253]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Unclassified metaphyseal chondrodysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90345
Gene [OrphaNum:121746 ; Name:Fibulin 5 ; Symbol:FBLN5 ; xref: GENATLAS:FBLN5 ; xref: HGNC:3602 ; xref: OMIM:604580 ; xref: UNIPROTKB/SWISSPROT:Q9UBX5 ; xref: ENSEMBL:ENSG00000140092]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348
Gene [OrphaNum:121517 ; Name:Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) ; Symbol:ELN ; xref: GENATLAS:ELN ; xref: HGNC:3327 ; xref: OMIM:130160 ; xref: UNIPROTKB/SWISSPROT:P15502 ; xref: ENSEMBL:ENSG00000049540]
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
Gene [OrphaNum:121299 ; Name:EGF-containing fibulin-like extracellular matrix protein 2 ; Symbol:EFEMP2 ; xref: GENATLAS:EFEMP2 ; xref: HGNC:3219 ; xref: OMIM:604633 ; xref: UNIPROTKB/SWISSPROT:O95967 ; xref: ENSEMBL:ENSG00000172638]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349
Autosomal recessive cutis laxa, Debré type
Cutis laxa with joint laxity and developmental delay
Gene [OrphaNum:201595 ; Name:Pyrroline-5-carboxylate reductase 1 ; Symbol:PYCR1 ; xref: ENSEMBL:ENSG00000183010 ; xref: GENATLAS:PYCR1 ; xref: HGNC:9721 ; xref: OMIM:179035 ; xref: UNIPROTKB/SWISSPROT:P32322 ; xref: REACTOME:P32322]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350
Gene [OrphaNum:159322 ; Name:ATPase, H+ transporting, lysosomal V0 subunit a2 ; Symbol:ATP6V0A2 ; xref: GENATLAS:ATP6V0A2 ; xref: HGNC:18481 ; xref: OMIM:611716 ; xref: UNIPROTKB/SWISSPROT:Q9Y487 ; xref: ENSEMBL:ENSG00000185344 ; xref: REACTOME:Q9Y487]
Gene [OrphaNum:270336 ; Name:PR domain containing 5 ; Symbol:PRDM5 ; xref: ENSEMBL:ENSG00000138738 ; xref: OMIM:614161 ; xref: UNIPROTKB/SWISSPROT:Q9NQX1 ; xref: HGNC:9349 ; xref: GENATLAS:PRDM5]
Gene [OrphaNum:159463 ; Name:Zinc finger protein 469 ; Symbol:ZNF469 ; xref: GENATLAS:ZNF469 ; xref: HGNC:23216 ; xref: OMIM:612078 ; xref: UNIPROTKB/SWISSPROT:Q96JG9 ; xref: ENSEMBL:ENSG00000225614]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90360
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90363
Hereditary hypotrichosis simplex of the scalp
Gene [OrphaNum:119324 ; Name:Corneodesmosin ; Symbol:CDSN ; xref: GENATLAS:CDSN ; xref: HGNC:1802 ; xref: OMIM:602593 ; xref: UNIPROTKB/SWISSPROT:Q15517 ; xref: ENSEMBL:ENSG00000137197]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368
Gene [OrphaNum:229791 ; Name:Keratin 74 ; Symbol:KRT74 ; xref: ENSEMBL:ENSG00000170484 ; xref: GENATLAS:KRT74 ; xref: HGNC:28929 ; xref: OMIM:608248 ; xref: UNIPROTKB/SWISSPROT:Q7RTS7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390
Disseminated superficial actinic porokeratosis type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90391
Disseminated superficial actinic porokeratosis type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90392
X-linked nonsyndromic sensorineural deafness type DFN
X-linked isolated neurosensory deafness type DFN
X-linked isolated neurosensory hearing loss type DFN
X-linked isolated sensorineural deafness type DFN
X-linked isolated sensorineural hearing loss type DFN
X-linked nonsyndromic neurosensory deafness type DFN
X-linked nonsyndromic neurosensory hearing loss type DFN
X-linked nonsyndromic sensorineural hearing loss type DFN
Gene [OrphaNum:118076 ; Name:Phosphoribosyl pyrophosphate synthetase 1 ; Symbol:PRPS1 ; xref: GENATLAS:PRPS1 ; xref: HGNC:9462 ; xref: OMIM:311850 ; xref: UNIPROTKB/SWISSPROT:P60891 ; xref: ENSEMBL:ENSG00000147224 ; xref: REACTOME:P60891]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625
Gene [OrphaNum:268803 ; Name:small muscle protein, X-linked ; Symbol:SMPX ; xref: HGNC:11122 ; xref: OMIM:300226 ; xref: GENATLAS:SMPX ; xref: UNIPROTKB/SWISSPROT:Q9UHP9 ; xref: ENSEMBL:ENSG00000091482]
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant isolated neurosensory deafness type DFNA
Autosomal dominant isolated neurosensory hearing loss type DFNA
Autosomal dominant isolated sensorineural deafness type DFNA
Autosomal dominant isolated sensorineural hearing loss type DFNA
Autosomal dominant nonsyndromic neurosensory deafness type DFNA
Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA
Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA
Gene [OrphaNum:120015 ; Name:Tectorin alpha ; Symbol:TECTA ; xref: GENATLAS:TECTA ; xref: HGNC:11720 ; xref: OMIM:602574 ; xref: UNIPROTKB/SWISSPROT:O75443 ; xref: ENSEMBL:ENSG00000109927]
Gene [OrphaNum:122135 ; Name:Gap junction protein, beta 3, 31kDa ; Symbol:GJB3 ; xref: GENATLAS:GJB3 ; xref: HGNC:4285 ; xref: OMIM:603324 ; xref: UNIPROTKB/SWISSPROT:O75712 ; xref: REACTOME:O75712 ; xref: ENSEMBL:ENSG00000188910]
Gene [OrphaNum:117957 ; Name:POU class 4 homeobox 3 ; Symbol:POU4F3 ; xref: GENATLAS:POU4F3 ; xref: HGNC:9220 ; xref: OMIM:602460 ; xref: UNIPROTKB/SWISSPROT:Q15319 ; xref: ENSEMBL:ENSG00000091010]
Gene [OrphaNum:120514 ; Name:Wolfram syndrome 1 (wolframin) ; Symbol:WFS1 ; xref: ENSEMBL:ENSG00000109501 ; xref: REACTOME:O76024 ; xref: GENATLAS:WFS1 ; xref: HGNC:12762 ; xref: OMIM:606201 ; xref: UNIPROTKB/SWISSPROT:O76024]
Gene [OrphaNum:304486 ; Name:Diaphanous homolog 3 (Drosophila) ; Symbol:DIAPH3 ; xref: HGNC:15480 ; xref: OMIM:614567 ; xref: GENATLAS:DIAPH3 ; xref: UNIPROTKB/SWISSPROT:Q9NSV4]
Gene [OrphaNum:123628 ; Name:Myosin, heavy chain 9, non-muscle ; Symbol:MYH9 ; xref: GENATLAS:MYH9 ; xref: HGNC:7579 ; xref: OMIM:160775 ; xref: UNIPROTKB/SWISSPROT:P35579 ; xref: REACTOME:P35579 ; xref: ENSEMBL:ENSG00000100345]
Gene [OrphaNum:169896 ; Name:Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 ; Symbol:SLC17A8 ; xref: GENATLAS:SLC17A8 ; xref: HGNC:20151 ; xref: OMIM:607557 ; xref: UNIPROTKB/SWISSPROT:Q8NDX2 ; xref: ENSEMBL:ENSG00000179520 ; xref: REACTOME:Q8NDX2]
Gene [OrphaNum:120693 ; Name:Collagen, type XI, alpha 2 ; Symbol:COL11A2 ; xref: GENATLAS:COL11A2 ; xref: HGNC:2187 ; xref: OMIM:120290 ; xref: UNIPROTKB/SWISSPROT:P13942 ; xref: ENSEMBL:ENSG00000204248]
Gene [OrphaNum:242924 ; Name:Tight junction protein 2 (zona occludens 2) ; Symbol:TJP2 ; xref: ENSEMBL:ENSG00000119139 ; xref: REACTOME:Q9UDY2 ; xref: GENATLAS:TJP2 ; xref: HGNC:11828 ; xref: UNIPROTKB/SWISSPROT:Q9UDY2 ; xref: OMIM:607709]
Gene [OrphaNum:166815 ; Name:Actin, gamma 1 ; Symbol:ACTG1 ; xref: GENATLAS:ACTG1 ; xref: HGNC:144 ; xref: OMIM:102560 ; xref: UNIPROTKB/SWISSPROT:P63261 ; xref: REACTOME:P63261 ; xref: ENSEMBL:ENSG00000184009]
Gene [OrphaNum:121056 ; Name:Deafness, autosomal dominant 5 ; Symbol:DFNA5 ; xref: GENATLAS:DFNA5 ; xref: HGNC:2810 ; xref: OMIM:608798 ; xref: UNIPROTKB/SWISSPROT:O60443 ; xref: ENSEMBL:ENSG00000105928]
Gene [OrphaNum:123653 ; Name:Myosin VIIA ; Symbol:MYO7A ; xref: GENATLAS:MYO7A ; xref: HGNC:7606 ; xref: OMIM:276903 ; xref: UNIPROTKB/SWISSPROT:Q13402 ; xref: ENSEMBL:ENSG00000137474]
Gene [OrphaNum:159507 ; Name:Grainyhead-like 2 (Drosophila) ; Symbol:GRHL2 ; xref: GENATLAS:GRHL2 ; xref: HGNC:2799 ; xref: OMIM:608576 ; xref: UNIPROTKB/SWISSPROT:Q6ISB3 ; xref: ENSEMBL:ENSG00000083307]
Gene [OrphaNum:121073 ; Name:Diaphanous homolog 1 (Drosophila) ; Symbol:DIAPH1 ; xref: OMIM:602121 ; xref: UNIPROTKB/SWISSPROT:O60610 ; xref: GENATLAS:DIAPH1 ; xref: HGNC:2876 ; xref: ENSEMBL:ENSG00000131504]
Gene [OrphaNum:122129 ; Name:Gap junction protein, beta 2, 26kDa ; Symbol:GJB2 ; xref: GENATLAS:GJB2 ; xref: HGNC:4284 ; xref: OMIM:121011 ; xref: UNIPROTKB/SWISSPROT:P29033 ; xref: ENSEMBL:ENSG00000165474 ; xref: REACTOME:P29033]
Gene [OrphaNum:120130 ; Name:Transmembrane channel-like 1 ; Symbol:TMC1 ; xref: GENATLAS:TMC1 ; xref: HGNC:16513 ; xref: OMIM:606706 ; xref: UNIPROTKB/SWISSPROT:Q8TDI8 ; xref: ENSEMBL:ENSG00000165091]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635
Gene [OrphaNum:159308 ; Name:Coiled-coil domain containing 50 ; Symbol:CCDC50 ; xref: GENATLAS:CCDC50 ; xref: HGNC:18111 ; xref: OMIM:611051 ; xref: UNIPROTKB/SWISSPROT:Q8IVM0 ; xref: ENSEMBL:ENSG00000152492]
Gene [OrphaNum:166803 ; Name:Myosin IA ; Symbol:MYO1A ; xref: ENSEMBL:ENSG00000166866 ; xref: GENATLAS:MYO1A ; xref: HGNC:7595 ; xref: OMIM:601478 ; xref: UNIPROTKB/SWISSPROT:Q9UBC5]
Gene [OrphaNum:270442 ; Name:diablo, IAP-binding mitochondrial protein ; Symbol:DIABLO ; xref: ENSEMBL:ENSG00000184047 ; xref: REACTOME:Q9NR28 ; xref: HGNC:21528 ; xref: OMIM:605219 ; xref: GENATLAS:DIABLO ; xref: UNIPROTKB/SWISSPROT:Q9NR28]
Gene [OrphaNum:120681 ; Name:Coagulation factor C homolog, cochlin (Limulus polyphemus) ; Symbol:COCH ; xref: GENATLAS:COCH ; xref: HGNC:2180 ; xref: OMIM:603196 ; xref: UNIPROTKB/SWISSPROT:O43405 ; xref: ENSEMBL:ENSG00000100473]
Gene [OrphaNum:123610 ; Name:Myosin, heavy chain 14 ; Symbol:MYH14 ; xref: GENATLAS:MYH14 ; xref: HGNC:23212 ; xref: OMIM:608568 ; xref: UNIPROTKB/SWISSPROT:Q7Z406 ; xref: ENSEMBL:ENSG00000105357 ; xref: REACTOME:Q7Z406]
Gene [OrphaNum:166809 ; Name:Crystallin, mu ; Symbol:CRYM ; xref: GENATLAS:CRYM ; xref: HGNC:2418 ; xref: OMIM:123740 ; xref: UNIPROTKB/SWISSPROT:Q14894 ; xref: ENSEMBL:ENSG00000103316]
Gene [OrphaNum:123648 ; Name:Myosin VI ; Symbol:MYO6 ; xref: GENATLAS:MYO6 ; xref: HGNC:7605 ; xref: OMIM:600970 ; xref: UNIPROTKB/SWISSPROT:Q9UM54 ; xref: REACTOME:Q9UM54 ; xref: ENSEMBL:ENSG00000196586]
Gene [OrphaNum:265505 ; Name:carcinoembryonic antigen-related cell adhesion molecule 16 ; Symbol:CEACAM16 ; xref: ENSEMBL:ENSG00000213892 ; xref: HGNC:31948 ; xref: UNIPROTKB/SWISSPROT:Q2WEN9 ; xref: GENATLAS:CEACAM16 ; xref: OMIM:614591]
Gene [OrphaNum:122142 ; Name:Gap junction protein, beta 6 ; Symbol:GJB6 ; xref: GENATLAS:GJB6 ; xref: HGNC:4288 ; xref: OMIM:604418 ; xref: UNIPROTKB/SWISSPROT:O95452 ; xref: ENSEMBL:ENSG00000121742 ; xref: REACTOME:O95452]
Gene [OrphaNum:189333 ; Name:MicroRNA 96 ; Symbol:MIR96 ; xref: ENSEMBL:ENSG00000199158 ; xref: HGNC:31648 ; xref: OMIM:611606]
Gene [OrphaNum:121654 ; Name:Eyes absent homolog 4 (Drosophila) ; Symbol:EYA4 ; xref: GENATLAS:EYA4 ; xref: HGNC:3522 ; xref: OMIM:603550 ; xref: UNIPROTKB/SWISSPROT:O95677 ; xref: ENSEMBL:ENSG00000112319]
Gene [OrphaNum:122821 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 4 ; Symbol:KCNQ4 ; xref: GENATLAS:KCNQ4 ; xref: HGNC:6298 ; xref: OMIM:603537 ; xref: UNIPROTKB/SWISSPROT:P56696 ; xref: ENSEMBL:ENSG00000117013 ; xref: IUPHAR:563 ; xref: REACTOME:P56696]
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive isolated neurosensory deafness type DFNB
Autosomal recessive isolated sensorineural deafness type DFNB
Autosomal recessive nonsyndromic neurosensory deafness type DFNB
Gene [OrphaNum:225329 ; Name:Glutaredoxin, cysteine rich 1 ; Symbol:GRXCR1 ; xref: ENSEMBL:ENSG00000215203 ; xref: GENATLAS:GRXCR1 ; xref: HGNC:31673 ; xref: UNIPROTKB/SWISSPROT:A8MXD5 ; xref: OMIM:613283]
Gene [OrphaNum:227071 ; Name:Taperin ; Symbol:TPRN ; xref: GENATLAS:TPRN ; xref: HGNC:26894 ; xref: OMIM:613354 ; xref: UNIPROTKB/SWISSPROT:Q4KMQ1 ; xref: ENSEMBL:ENSG00000176058]
Gene [OrphaNum:139217 ; Name:Deafness, autosomal recessive 31 ; Symbol:DFNB31 ; xref: GENATLAS:DFNB31 ; xref: HGNC:16361 ; xref: OMIM:607928 ; xref: UNIPROTKB/SWISSPROT:Q9P202 ; xref: ENSEMBL:ENSG00000095397]
Gene [OrphaNum:270208 ; Name:GIPC PDZ domain containing family, member 3 ; Symbol:GIPC3 ; xref: ENSEMBL:ENSG00000179855 ; xref: HGNC:18183 ; xref: GENATLAS:GIPC3 ; xref: OMIM:608792 ; xref: UNIPROTKB/SWISSPROT:Q8TF64]
Gene [OrphaNum:120145 ; Name:Transmembrane inner ear ; Symbol:TMIE ; xref: GENATLAS:TMIE ; xref: HGNC:30800 ; xref: OMIM:607237 ; xref: UNIPROTKB/SWISSPROT:Q8NEW7 ; xref: ENSEMBL:ENSG00000181585]
Gene [OrphaNum:169402 ; Name:Leucine rich transmembrane and 0-methyltransferase domain containing ; Symbol:LRTOMT ; xref: GENATLAS:COMT2 ; xref: HGNC:25033 ; xref: OMIM:612414 ; xref: UNIPROTKB/SWISSPROT:Q96E66 ; xref: ENSEMBL:ENSG00000184154]
Gene [OrphaNum:123641 ; Name:Myosin XVA ; Symbol:MYO15A ; xref: GENATLAS:MYO15A ; xref: HGNC:7594 ; xref: OMIM:602666 ; xref: UNIPROTKB/SWISSPROT:Q9UKN7 ; xref: ENSEMBL:ENSG00000091536]
Gene [OrphaNum:118821 ; Name:Solute carrier family 26, member 4 ; Symbol:SLC26A4 ; xref: GENATLAS:SLC26A4 ; xref: HGNC:8818 ; xref: OMIM:605646 ; xref: UNIPROTKB/SWISSPROT:O43511 ; xref: ENSEMBL:ENSG00000091137 ; xref: REACTOME:O43511]
Gene [OrphaNum:166807 ; Name:Deafness, autosomal recessive 59 ; Symbol:DFNB59 ; xref: GENATLAS:DFNB59 ; xref: HGNC:29502 ; xref: OMIM:610219 ; xref: UNIPROTKB/SWISSPROT:Q0ZLH3 ; xref: ENSEMBL:ENSG00000204311]
Gene [OrphaNum:120433 ; Name:Usher syndrome 1C (autosomal recessive, severe) ; Symbol:USH1C ; xref: GENATLAS:USH1C ; xref: HGNC:12597 ; xref: OMIM:605242 ; xref: UNIPROTKB/SWISSPROT:Q9Y6N9 ; xref: ENSEMBL:ENSG00000006611]
Gene [OrphaNum:166800 ; Name:Otoancorin ; Symbol:OTOA ; xref: GENATLAS:OTOA ; xref: HGNC:16378 ; xref: OMIM:607038 ; xref: UNIPROTKB/SWISSPROT:Q7RTW8 ; xref: ENSEMBL:ENSG00000155719]
Gene [OrphaNum:159213 ; Name:TRIO and F-actin binding protein ; Symbol:TRIOBP ; xref: GENATLAS:TRIOBP ; xref: HGNC:17009 ; xref: OMIM:609761 ; xref: UNIPROTKB/SWISSPROT:Q9H2D6 ; xref: ENSEMBL:ENSG00000100106]
Gene [OrphaNum:240651 ; Name:G-protein signaling modulator 2 ; Symbol:GPSM2 ; xref: GENATLAS:GPSM2 ; xref: HGNC:29501 ; xref: OMIM:609245 ; xref: UNIPROTKB/SWISSPROT:P81274 ; xref: ENSEMBL:ENSG00000121957]
Gene [OrphaNum:160240 ; Name:Espin ; Symbol:ESPN ; xref: GENATLAS:ESPN ; xref: HGNC:13281 ; xref: OMIM:606351 ; xref: UNIPROTKB/SWISSPROT:B1AK53 ; xref: ENSEMBL:ENSG00000187017]
Gene [OrphaNum:160244 ; Name:Estrogen-related receptor beta ; Symbol:ESRRB ; xref: REACTOME:O95718 ; xref: GENATLAS:ESRRB ; xref: HGNC:3473 ; xref: OMIM:602167 ; xref: UNIPROTKB/SWISSPROT:O95718 ; xref: ENSEMBL:ENSG00000119715 ; xref: IUPHAR:623]
Gene [OrphaNum:259373 ; Name:immunoglobulin-like domain containing receptor 1 ; Symbol:ILDR1 ; xref: ENSEMBL:ENSG00000145103 ; xref: HGNC:28741 ; xref: GENATLAS:ILDR1 ; xref: UNIPROTKB/SWISSPROT:Q86SU0 ; xref: OMIM:609739]
Gene [OrphaNum:233019 ; Name:Serpin peptidase inhibitor, clade B (ovalbumin), member 6 ; Symbol:SERPINB6 ; xref: GENATLAS:SERPINB6 ; xref: ENSEMBL:ENSG00000124570 ; xref: HGNC:8950 ; xref: UNIPROTKB/SWISSPROT:P35237 ; xref: OMIM:173321]
Gene [OrphaNum:221356 ; Name:Lipoxygenase homology domains 1 ; Symbol:LOXHD1 ; xref: ENSEMBL:ENSG00000167210 ; xref: GENATLAS:LOXHD1 ; xref: HGNC:26521 ; xref: OMIM:613072 ; xref: UNIPROTKB/SWISSPROT:Q8IVV2]
Gene [OrphaNum:189344 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 10 ; Symbol:KCNJ10 ; xref: IUPHAR:438 ; xref: REACTOME:P78508 ; xref: ENSEMBL:ENSG00000177807 ; xref: GENATLAS:KCNJ10 ; xref: HGNC:6256 ; xref: OMIM:602208 ; xref: UNIPROTKB/SWISSPROT:P78508]
Gene [OrphaNum:124035 ; Name:Otoferlin ; Symbol:OTOF ; xref: GENATLAS:OTOF ; xref: HGNC:8515 ; xref: OMIM:603681 ; xref: UNIPROTKB/SWISSPROT:Q9HC10 ; xref: ENSEMBL:ENSG00000115155]
Gene [OrphaNum:166812 ; Name:Claudin 14 ; Symbol:CLDN14 ; xref: GENATLAS:CLDN14 ; xref: HGNC:2035 ; xref: OMIM:605608 ; xref: UNIPROTKB/SWISSPROT:O95500 ; xref: REACTOME:O95500 ; xref: ENSEMBL:ENSG00000159261]
Gene [OrphaNum:122102 ; Name:Gap junction protein, alpha 1, 43kDa ; Symbol:GJA1 ; xref: GENATLAS:GJA1 ; xref: HGNC:4274 ; xref: OMIM:121014 ; xref: UNIPROTKB/SWISSPROT:P17302 ; xref: REACTOME:P17302 ; xref: ENSEMBL:ENSG00000152661]
Gene [OrphaNum:227397 ; Name:Protein tyrosine phosphatase, receptor type, Q ; Symbol:PTPRQ ; xref: GENATLAS:PTPRQ ; xref: HGNC:9679 ; xref: UNIPROTKB/SWISSPROT:Q9UMZ3 ; xref: OMIM:603317 ; xref: ENSEMBL:ENSG00000139304]
Gene [OrphaNum:258532 ; Name:Methionine sulfoxide reductase B3 ; Symbol:MSRB3 ; xref: ENSEMBL:ENSG00000174099 ; xref: OMIM:613719 ; xref: HGNC:27375 ; xref: UNIPROTKB/SWISSPROT:Q8IXL7 ; xref: GENATLAS:MSRB3]
Gene [OrphaNum:159414 ; Name:Lipoma HMGIC fusion partner-like 5 ; Symbol:LHFPL5 ; xref: ENSEMBL:ENSG00000197753 ; xref: GENATLAS:LHFPL5 ; xref: HGNC:21253 ; xref: OMIM:609427 ; xref: UNIPROTKB/SWISSPROT:Q8TAF8]
Gene [OrphaNum:201589 ; Name:Hepatocyte growth factor (hepapoietin A; scatter factor) ; Symbol:HGF ; xref: REACTOME:P14210 ; xref: ENSEMBL:ENSG00000019991 ; xref: GENATLAS:HGF ; xref: HGNC:4893 ; xref: OMIM:142409 ; xref: UNIPROTKB/SWISSPROT:P14210]
Gene [OrphaNum:159272 ; Name:Deafness, autosomal recessive 24 ; Symbol:RDX ; xref: ENSEMBL:ENSG00000137710 ; xref: REACTOME:P35241 ; xref: GENATLAS:RDX ; xref: HGNC:9944 ; xref: OMIM:179410 ; xref: UNIPROTKB/SWISSPROT:P35241]
Gene [OrphaNum:120148 ; Name:Transmembrane protease, serine 3 ; Symbol:TMPRSS3 ; xref: GENATLAS:TMPRSS3 ; xref: HGNC:11877 ; xref: OMIM:605511 ; xref: UNIPROTKB/SWISSPROT:P57727 ; xref: ENSEMBL:ENSG00000160183]
Gene [OrphaNum:160313 ; Name:Myosin IIIA ; Symbol:MYO3A ; xref: GENATLAS:MYO3A ; xref: HGNC:7601 ; xref: OMIM:606808 ; xref: UNIPROTKB/SWISSPROT:Q8NEV4 ; xref: ENSEMBL:ENSG00000095777]
Gene [OrphaNum:159178 ; Name:Stereocilin ; Symbol:STRC ; xref: HGNC:16035 ; xref: OMIM:606440 ; xref: UNIPROTKB/SWISSPROT:Q7RTU9 ; xref: GENATLAS:STRC ; xref: ENSEMBL:ENSG00000242866]
Gene [OrphaNum:160337 ; Name:Solute carrier family 26, member 5 (prestin) ; Symbol:SLC26A5 ; xref: GENATLAS:SLC26A5 ; xref: OMIM:604943 ; xref: HGNC:9359 ; xref: UNIPROTKB/SWISSPROT:P58743 ; xref: ENSEMBL:ENSG00000170615]
Gene [OrphaNum:124119 ; Name:Protocadherin 15 ; Symbol:PCDH15 ; xref: GENATLAS:PCDH15 ; xref: HGNC:14674 ; xref: OMIM:605514 ; xref: UNIPROTKB/SWISSPROT:Q96QU1 ; xref: ENSEMBL:ENSG00000150275]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636
Gene [OrphaNum:119281 ; Name:Cadherin-like 23 ; Symbol:CDH23 ; xref: GENATLAS:CDH23 ; xref: HGNC:13733 ; xref: OMIM:605516 ; xref: UNIPROTKB/SWISSPROT:Q9H251 ; xref: ENSEMBL:ENSG00000107736]
Gene [OrphaNum:160288 ; Name:MARVEL domain containing 2 ; Symbol:MARVELD2 ; xref: GENATLAS:MARVELD2 ; xref: HGNC:26401 ; xref: OMIM:610572 ; xref: UNIPROTKB/SWISSPROT:Q8N4S9 ; xref: ENSEMBL:ENSG00000152939]
Mitochondrial nonsyndromic sensorineural deafness
Isolated mitochondrial neurosensory deafness
Isolated mitochondrial sensorineural deafness
Mitochondrial nonsyndromic neurosensory deafness
Gene [OrphaNum:138902 ; Name:Mitochondrially encoded 12S RNA ; Symbol:MT-RNR1 ; xref: GENATLAS:MT-RNR1 ; xref: HGNC:7470 ; xref: OMIM:561000]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Gene [OrphaNum:166766 ; Name:Mitochondrially encoded tRNA histidine ; Symbol:MT-TH ; xref: GENATLAS:MT-TH ; xref: HGNC:7487 ; xref: OMIM:590040]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641
Gene [OrphaNum:120032 ; Name:Transcription factor B1, mitochondrial ; Symbol:TFB1M ; xref: GENATLAS:TFB1M ; xref: HGNC:17037 ; xref: OMIM:607033 ; xref: UNIPROTKB/SWISSPROT:Q8WVM0 ; xref: ENSEMBL:ENSG00000029639]
Gene [OrphaNum:120293 ; Name:TRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ; Symbol:TRMU ; xref: UNIPROTKB/SWISSPROT:O75648 ; xref: GENATLAS:TRMU ; xref: HGNC:25481 ; xref: OMIM:610230 ; xref: ENSEMBL:ENSG00000100416]
Gene [OrphaNum:123512 ; Name:Mitochondrially encoded cytochrome c oxidase I ; Symbol:MT-CO1 ; xref: ENSEMBL:ENSG00000198804 ; xref: REACTOME:P00395 ; xref: GENATLAS:MT-CO1 ; xref: HGNC:7419 ; xref: OMIM:516030 ; xref: UNIPROTKB/SWISSPROT:P00395]
Gene [OrphaNum:167901 ; Name:Mitochondrially encoded tRNA serine 1 (UCN) ; Symbol:MT-TS1 ; xref: GENATLAS:MT-TS1 ; xref: HGNC:7497 ; xref: OMIM:590080]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90642
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646
Gene [OrphaNum:122763 ; Name:Potassium voltage-gated channel, Isk-related family, member 1 ; Symbol:KCNE1 ; xref: GENATLAS:KCNE1 ; xref: HGNC:6240 ; xref: OMIM:176261 ; xref: UNIPROTKB/SWISSPROT:P15382 ; xref: ENSEMBL:ENSG00000180509]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90649
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Gene [OrphaNum:120690 ; Name:Collagen, type XI, alpha 1 ; Symbol:COL11A1 ; xref: GENATLAS:COL11A1 ; xref: HGNC:2186 ; xref: OMIM:120280 ; xref: UNIPROTKB/SWISSPROT:P12107 ; xref: ENSEMBL:ENSG00000060718]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658
Hypothyroidism due to TSH receptor mutations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673
Gene [OrphaNum:120320 ; Name:Thyroid stimulating hormone receptor ; Symbol:TSHR ; xref: GENATLAS:TSHR ; xref: HGNC:12373 ; xref: OMIM:603372 ; xref: UNIPROTKB/SWISSPROT:P16473 ; xref: IUPHAR:255 ; xref: ENSEMBL:ENSG00000165409 ; xref: REACTOME:P16473]
Isolated thyroid-stimulating hormone deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674
Gene [OrphaNum:166731 ; Name:Thyroid stimulating hormone, beta ; Symbol:TSHB ; xref: GENATLAS:TSHB ; xref: HGNC:12372 ; xref: OMIM:188540 ; xref: UNIPROTKB/SWISSPROT:P01222 ; xref: ENSEMBL:ENSG00000134200 ; xref: REACTOME:P01222]
Gene [OrphaNum:118051 ; Name:PROP paired-like homeobox 1 ; Symbol:PROP1 ; xref: GENATLAS:PROP1 ; xref: HGNC:9455 ; xref: OMIM:601538 ; xref: UNIPROTKB/SWISSPROT:O75360 ; xref: ENSEMBL:ENSG00000175325]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695
46,XX Disorder of sex development induced by androgens of fetal origin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604
Gene [OrphaNum:119876 ; Name:Steroidogenic acute regulatory protein ; Symbol:STAR ; xref: GENATLAS:STAR ; xref: HGNC:11359 ; xref: OMIM:600617 ; xref: UNIPROTKB/SWISSPROT:P49675 ; xref: ENSEMBL:ENSG00000147465 ; xref: REACTOME:P49675]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Gene [OrphaNum:122515 ; Name:Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ; Symbol:HSD3B2 ; xref: GENATLAS:HSD3B2 ; xref: HGNC:5218 ; xref: UNIPROTKB/SWISSPROT:P26439 ; xref: OMIM:613890 ; xref: REACTOME:P26439 ; xref: ENSEMBL:ENSG00000203859]
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Gene [OrphaNum:120963 ; Name:Cytochrome P450, family 17, subfamily A, polypeptide 1 ; Symbol:CYP17A1 ; xref: GENATLAS:CYP17A1 ; xref: HGNC:2593 ; xref: OMIM:609300 ; xref: UNIPROTKB/SWISSPROT:P05093 ; xref: REACTOME:P05093 ; xref: ENSEMBL:ENSG00000148795]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form
Gene [OrphaNum:120981 ; Name:Cytochrome P450, family 21, subfamily A, polypeptide 2 ; Symbol:CYP21A2 ; xref: GENATLAS:CYP21A2 ; xref: HGNC:2600 ; xref: UNIPROTKB/SWISSPROT:P08686 ; xref: OMIM:613815 ; xref: ENSEMBL:ENSG00000231852 ; xref: REACTOME:P08686]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795
Gene [OrphaNum:120949 ; Name:Cytochrome P450, family 11, subfamily B, polypeptide 1 ; Symbol:CYP11B1 ; xref: OMIM:610613 ; xref: UNIPROTKB/SWISSPROT:P15538 ; xref: GENATLAS:CYP11B1 ; xref: HGNC:2591 ; xref: ENSEMBL:ENSG00000160882 ; xref: REACTOME:P15538]
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
Gene [OrphaNum:292259 ; Name:Aldo-keto reductase family 1, member C4 ; Symbol:AKR1C4 ; xref: GENATLAS:AKR1C4 ; xref: UNIPROTKB/SWISSPROT:P17516 ; xref: HGNC:387 ; xref: OMIM:600451]
Gene [OrphaNum:292247 ; Name:Aldo-keto reductase family 1, member C2 ; Symbol:AKR1C2 ; xref: HGNC:385 ; xref: OMIM:600450 ; xref: UNIPROTKB/SWISSPROT:P52895 ; xref: GENATLAS:AKR1C2]
Gene [OrphaNum:120929 ; Name:Cytochrome b5 type A (microsomal) ; Symbol:CYB5A ; xref: GENATLAS:CYB5A ; xref: HGNC:2570 ; xref: OMIM:613218 ; xref: UNIPROTKB/SWISSPROT:P00167 ; xref: REACTOME:P00167 ; xref: ENSEMBL:ENSG00000166347]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796
Gene [OrphaNum:123196 ; Name:Multiple endocrine neoplasia I ; Symbol:MEN1 ; xref: GENATLAS:MEN1 ; xref: HGNC:7010 ; xref: OMIM:613733 ; xref: UNIPROTKB/SWISSPROT:O00255 ; xref: ENSEMBL:ENSG00000133895]
Gene [OrphaNum:293303 ; Name:Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) ; Symbol:CDKN2B ; xref: HGNC:1788 ; xref: GENATLAS:CDKN2B ; xref: OMIM:600431 ; xref: UNIPROTKB/SWISSPROT:P42772]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652
Gene [OrphaNum:293311 ; Name:Cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) ; Symbol:CDKN2C ; xref: HGNC:1789 ; xref: OMIM:603369 ; xref: GENATLAS:CDKN2C ; xref: UNIPROTKB/SWISSPROT:P42773]
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:293293 ; Name:Cyclin-dependent kinase inhibitor 1A (p21, Cip1) ; Symbol:CDKN1A ; xref: HGNC:1784 ; xref: OMIM:116899 ; xref: GENATLAS:CDKN1A ; xref: UNIPROTKB/SWISSPROT:P38936]
Gene [OrphaNum:200995 ; Name:Cyclin-dependent kinase inhibitor 1B (p27, Kip1) ; Symbol:CDKN1B ; xref: REACTOME:P46527 ; xref: ENSEMBL:ENSG00000111276 ; xref: GENATLAS:CDKN1B ; xref: HGNC:1785 ; xref: OMIM:600778 ; xref: UNIPROTKB/SWISSPROT:P46527]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797
Gene [OrphaNum:132285 ; Name:Androgen receptor ; Symbol:AR ; xref: GENATLAS:AR ; xref: HGNC:644 ; xref: OMIM:313700 ; xref: UNIPROTKB/SWISSPROT:P10275 ; xref: IUPHAR:628 ; xref: ENSEMBL:ENSG00000169083 ; xref: REACTOME:P10275]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90970
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Autosomal recessive axonal Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease, axonal, autosomal recessive type 4C
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91024
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088
Cardiomyopathy - hypotonia - lactic acidosis
Gene [OrphaNum:158407 ; Name:Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 ; Symbol:SLC25A3 ; xref: GENATLAS:SLC25A3 ; xref: HGNC:10989 ; xref: OMIM:600370 ; xref: UNIPROTKB/SWISSPROT:Q00325 ; xref: ENSEMBL:ENSG00000075415]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130
Carbohydrate deficient glycoprotein syndrome type Im
Congenital disorder of glycosylation type 1m
Congenital disorder of glycosylation type Im
Hypotonia and ichthyosis due to dolichol phosphate deficiency
Gene [OrphaNum:123375 ; Name:Dolichol kinase ; Symbol:DOLK ; xref: GENATLAS:DOLK ; xref: HGNC:23406 ; xref: OMIM:610746 ; xref: UNIPROTKB/SWISSPROT:Q9UPQ8 ; xref: ENSEMBL:ENSG00000175283 ; xref: REACTOME:Q9UPQ8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131
Gene [OrphaNum:179413 ; Name:Suppression of tumorigenicity 14 (colon carcinoma) ; Symbol:ST14 ; xref: GENATLAS:ST14 ; xref: HGNC:11344 ; xref: OMIM:606797 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y6 ; xref: ENSEMBL:ENSG00000149418]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132
Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91133
Osteogenesis imperfecta - shortened long bones - white sclerae
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91134
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Gene [OrphaNum:122083 ; Name:Gamma-glutamyl carboxylase ; Symbol:GGCX ; xref: GENATLAS:GGCX ; xref: HGNC:4247 ; xref: OMIM:137167 ; xref: UNIPROTKB/SWISSPROT:P38435 ; xref: ENSEMBL:ENSG00000115486 ; xref: REACTOME:P38435]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135
Monoclonal Ig light chain-associated Fanconi syndrome
Kappa light chain-associated Fanconi syndrome
Monoclonal kappa Ig light chain-associated Fanconi syndrome
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91348
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349
Pituitary deficiency due to Rathke's pouch cysts
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91350
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351
prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91353
Pituitary deficiency due to empty sella turcica syndrome
Hypopituitarism due to empty sella turcica syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91354
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91355
Mitochondrial myopathy and sideroblastic anemia
Myopathy, lactic acidosis and sideroblastic anemia
Gene [OrphaNum:240658 ; Name:Tyrosyl-tRNA synthetase 2, mitochondrial ; Symbol:YARS2 ; xref: OMIM:610957 ; xref: UNIPROTKB/SWISSPROT:Q9Y2Z4 ; xref: GENATLAS:YARS2 ; xref: HGNC:24249 ; xref: ENSEMBL:ENSG00000139131 ; xref: REACTOME:Q9Y2Z4]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598
Gene [OrphaNum:118160 ; Name:Pseudouridylate synthase 1 ; Symbol:PUS1 ; xref: GENATLAS:PUS1 ; xref: HGNC:15508 ; xref: OMIM:608109 ; xref: UNIPROTKB/SWISSPROT:Q9Y606 ; xref: ENSEMBL:ENSG00000177192]
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91357
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91358
Hereditary bradykinine-induced angioedema
Hereditary non histamine-induced angioedema
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91378
Familial thoracic aortic aneurysm and dissection
Gene [OrphaNum:246653 ; Name:Myosin light chain kinase ; Symbol:MYLK ; xref: ENSEMBL:ENSG00000065534 ; xref: GENATLAS:MYLK ; xref: HGNC:7590 ; xref: OMIM:600922 ; xref: UNIPROTKB/SWISSPROT:Q15746 ; xref: REACTOME:Q15746]
Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387
Gene [OrphaNum:138831 ; Name:Actin, alpha 2, smooth muscle, aorta ; Symbol:ACTA2 ; xref: GENATLAS:ACTA2 ; xref: HGNC:130 ; xref: OMIM:102620 ; xref: UNIPROTKB/SWISSPROT:P62736 ; xref: REACTOME:P62736 ; xref: ENSEMBL:ENSG00000107796]
Gene [OrphaNum:123606 ; Name:Myosin, heavy chain 11, smooth muscle ; Symbol:MYH11 ; xref: GENATLAS:MYH11 ; xref: HGNC:7569 ; xref: OMIM:160745 ; xref: UNIPROTKB/SWISSPROT:P35749 ; xref: REACTOME:P35749 ; xref: ENSEMBL:ENSG00000133392]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396
Isolated ankyloblepharon filiforme adnatum
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412
Congenital Claude-Bernard-Horner syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91415
Gene [OrphaNum:229801 ; Name:Kinase insert domain receptor (a type III receptor tyrosine kinase) ; Symbol:KDR ; xref: ENSEMBL:ENSG00000128052 ; xref: REACTOME:P35968 ; xref: HGNC:6307 ; xref: GENATLAS:KDR ; xref: OMIM:191306 ; xref: UNIPROTKB/SWISSPROT:P35968]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483
Gene [OrphaNum:117832 ; Name:Paired-like homeodomain 2 ; Symbol:PITX2 ; xref: GENATLAS:PITX2 ; xref: HGNC:9005 ; xref: OMIM:601542 ; xref: UNIPROTKB/SWISSPROT:Q99697 ; xref: ENSEMBL:ENSG00000164093]
Gene [OrphaNum:121883 ; Name:Forkhead box C1 ; Symbol:FOXC1 ; xref: ENSEMBL:ENSG00000054598 ; xref: GENATLAS:FOXC1 ; xref: HGNC:3800 ; xref: OMIM:601090 ; xref: UNIPROTKB/SWISSPROT:Q12948]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489
Gene [OrphaNum:292376 ; Name:Chordin-like 1 ; Symbol:CHRDL1 ; xref: HGNC:29861 ; xref: OMIM:300350 ; xref: GENATLAS:CHRDL1 ; xref: UNIPROTKB/SWISSPROT:Q9BU40]
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase IA deficiency
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156
Gene [OrphaNum:120790 ; Name:Carnitine palmitoyltransferase 1A (liver) ; Symbol:CPT1A ; xref: GENATLAS:CPT1A ; xref: HGNC:2328 ; xref: OMIM:600528 ; xref: UNIPROTKB/SWISSPROT:P50416 ; xref: ENSEMBL:ENSG00000110090 ; xref: REACTOME:P50416]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492
Macular coloboma - cleft palate - hallux valgus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494
Persistent hyperplastic primary vitreous
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495
Gene [OrphaNum:121977 ; Name:Frizzled homolog 4 (Drosophila) ; Symbol:FZD4 ; xref: GENATLAS:FZD4 ; xref: HGNC:4042 ; xref: OMIM:604579 ; xref: UNIPROTKB/SWISSPROT:Q9ULV1 ; xref: ENSEMBL:ENSG00000174804 ; xref: IUPHAR:232 ; xref: REACTOME:Q9ULV1]
Gene [OrphaNum:123713 ; Name:Norrie disease (pseudoglioma) ; Symbol:NDP ; xref: ENSEMBL:ENSG00000124479 ; xref: GENATLAS:NDP ; xref: HGNC:7678 ; xref: OMIM:310600 ; xref: UNIPROTKB/SWISSPROT:Q00604]
Gene [OrphaNum:159740 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 13 ; Symbol:KCNJ13 ; xref: GENATLAS:KCNJ13 ; xref: HGNC:6259 ; xref: OMIM:603208 ; xref: UNIPROTKB/SWISSPROT:O60928 ; xref: IUPHAR:443 ; xref: ENSEMBL:ENSG00000115474]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496
Familial congenital palsy of trochlear nerve
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498
Gene [OrphaNum:160296 ; Name:KN motif and ankyrin repeat domains 1 ; Symbol:KANK1 ; xref: GENATLAS:KANK1 ; xref: HGNC:19309 ; xref: OMIM:607704 ; xref: UNIPROTKB/SWISSPROT:Q14678 ; xref: ENSEMBL:ENSG00000107104]
Congenital familial intractable diarrhea with epithelial or epithelium abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050
Gene [OrphaNum:226018 ; Name:Epithelial cell adhesion molecule ; Symbol:EPCAM ; xref: GENATLAS:EPCAM ; xref: HGNC:11529 ; xref: OMIM:185535 ; xref: UNIPROTKB/SWISSPROT:P16422 ; xref: ENSEMBL:ENSG00000119888]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110
Maturity-onset diabetes of the young type 5
Renal cysts - maturity-onset diabetes of the young
Renal dysfunction - early-onset diabetes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111
Charcot-Marie-Tooth disease - nephropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114
Gene [OrphaNum:225380 ; Name:Inverted formin, FH2 and WH2 domain containing ; Symbol:INF2 ; xref: ENSEMBL:ENSG00000203485 ; xref: GENATLAS:INF2 ; xref: HGNC:23791 ; xref: OMIM:610982 ; xref: UNIPROTKB/SWISSPROT:Q27J81]
Myopathy - growth delay - intellectual deficit - hypospadias
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2601
Hypocalcemic vitamin D resistant rickets
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160
Gene [OrphaNum:120464 ; Name:Vitamin D (1,25- dihydroxyvitamin D3) receptor ; Symbol:VDR ; xref: GENATLAS:VDR ; xref: HGNC:12679 ; xref: OMIM:601769 ; xref: UNIPROTKB/SWISSPROT:P11473 ; xref: REACTOME:P11473 ; xref: ENSEMBL:ENSG00000111424 ; xref: IUPHAR:605]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172
Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93178
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93206
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null;
Idiopathic steroid-sensitive nephrotic syndrome with minimal change
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93207
Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93209
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544]
Gene [OrphaNum:159233 ; Name:Phospholipase C, epsilon 1 ; Symbol:PLCE1 ; xref: GENATLAS:PLCE1 ; xref: HGNC:17175 ; xref: OMIM:608414 ; xref: UNIPROTKB/SWISSPROT:Q9P212 ; xref: ENSEMBL:ENSG00000138193]
Gene [OrphaNum:120298 ; Name:Transient receptor potential cation channel, subfamily C, member 6 ; Symbol:TRPC6 ; xref: GENATLAS:TRPC6 ; xref: HGNC:12338 ; xref: OMIM:603652 ; xref: UNIPROTKB/SWISSPROT:Q9Y210 ; xref: REACTOME:Q9Y210 ; xref: IUPHAR:491 ; xref: ENSEMBL:ENSG00000137672]
Gene [OrphaNum:285362 ; Name:Rho GTPase Activating Protein 24 ; Symbol:ARHGAP24 ; xref: GENATLAS:ARHGAP24 ; xref: HGNC:25361 ; xref: UNIPROTKB/SWISSPROT:Q8N264 ; xref: OMIM:610586 ; xref: REACTOME:Q8N264 ; xref: ENSEMBL:ENSG00000138639]
Gene [OrphaNum:270424 ; Name:protein tyrosine phosphatase, receptor type, O ; Symbol:PTPRO ; xref: ENSEMBL:ENSG00000151490 ; xref: OMIM:600579 ; xref: GENATLAS:PTPRO ; xref: UNIPROTKB/SWISSPROT:Q16827 ; xref: HGNC:9678]
Gene [OrphaNum:123893 ; Name:Nephrosis 2, idiopathic, steroid-resistant (podocin) ; Symbol:NPHS2 ; xref: GENATLAS:NPHS2 ; xref: HGNC:13394 ; xref: OMIM:604766 ; xref: UNIPROTKB/SWISSPROT:Q9NP85 ; xref: ENSEMBL:ENSG00000116218 ; xref: REACTOME:Q9NP85]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93213
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:236656 ; Name:CD2-associated protein ; Symbol:CD2AP ; xref: OMIM:604241 ; xref: ENSEMBL:ENSG00000198087 ; xref: REACTOME:Q9Y5K6 ; xref: HGNC:14258 ; xref: GENATLAS:CD2AP ; xref: UNIPROTKB/SWISSPROT:Q9Y5K6]
Gene [OrphaNum:123889 ; Name:Nephrosis 1, congenital, Finnish type (nephrin) ; Symbol:NPHS1 ; xref: GENATLAS:NPHS1 ; xref: HGNC:7908 ; xref: OMIM:602716 ; xref: UNIPROTKB/SWISSPROT:O60500 ; xref: ENSEMBL:ENSG00000161270 ; xref: REACTOME:O60500]
Gene [OrphaNum:270032 ; Name:myosin IE ; Symbol:MYO1E ; xref: ENSEMBL:ENSG00000157483 ; xref: GENATLAS:MYO1E ; xref: HGNC:7599 ; xref: OMIM:601479 ; xref: UNIPROTKB/SWISSPROT:Q12965]
Gene [OrphaNum:117757 ; Name:Actinin, alpha 4 ; Symbol:ACTN4 ; xref: HGNC:166 ; xref: OMIM:604638 ; xref: UNIPROTKB/SWISSPROT:O43707 ; xref: GENATLAS:ACTN4 ; xref: ENSEMBL:ENSG00000130402 ; xref: REACTOME:O43707]
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93214
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93216
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93217
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93218
Gene [OrphaNum:240672 ; Name:Apolipoprotein L, 1 ; Symbol:APOL1 ; xref: GENATLAS:APOL1 ; xref: HGNC:618 ; xref: OMIM:603743 ; xref: UNIPROTKB/SWISSPROT:O14791 ; xref: ENSEMBL:ENSG00000100342]
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93220
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93221
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93222
Fragile X-associated tremor/ataxia syndrome
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256
Gene [OrphaNum:118239 ; Name:Retinoblastoma 1 (including osteosarcoma) ; Symbol:RB1 ; xref: GENATLAS:RB1 ; xref: HGNC:9884 ; xref: UNIPROTKB/SWISSPROT:P06400 ; xref: OMIM:614041 ; xref: REACTOME:P06400 ; xref: ENSEMBL:ENSG00000139687]
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790
Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802]
Gene [OrphaNum:121802 ; Name:Fibroblast growth factor receptor 1 ; Symbol:FGFR1 ; xref: GENATLAS:FGFR1 ; xref: HGNC:3688 ; xref: OMIM:136350 ; xref: UNIPROTKB/SWISSPROT:P11362 ; xref: ENSEMBL:ENSG00000077782 ; xref: REACTOME:P11362]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262
Cloverleaf skull - multiple congenital anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267
Short rib-polydactyly syndrome, Beemer-Langer type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268
Short rib-polydactyly syndrome, Majewski type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269
Gene [OrphaNum:258621 ; Name:NIMA (never in mitosis gene a)-related kinase 1 ; Symbol:NEK1 ; xref: ENSEMBL:ENSG00000137601 ; xref: OMIM:604588 ; xref: HGNC:7744 ; xref: GENATLAS:NEK1 ; xref: UNIPROTKB/SWISSPROT:Q96PY6]
Gene [OrphaNum:183938 ; Name:Dynein, cytoplasmic 2, heavy chain 1 ; Symbol:DYNC2H1 ; xref: ENSEMBL:ENSG00000187240 ; xref: GENATLAS:DYNC2H1 ; xref: HGNC:2962 ; xref: OMIM:603297 ; xref: UNIPROTKB/SWISSPROT:Q8N977]
Short rib-polydactyly syndrome, Saldino-Noonan type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270
Short rib-polydactyly syndrome, Verma-Naumoff type
Gene [OrphaNum:160278 ; Name:Intraflagellar transport 80 homolog ; Symbol:IFT80 ; xref: ENSEMBL:ENSG00000068885 ; xref: GENATLAS:IFT80 ; xref: HGNC:29262 ; xref: UNIPROTKB/SWISSPROT:Q9P2H3 ; xref: OMIM:611177]
Gene [OrphaNum:239955 ; Name:WD repeat domain 35 ; Symbol:WDR35 ; xref: OMIM:613602 ; xref: GENATLAS:WDR35 ; xref: HGNC:29250 ; xref: UNIPROTKB/SWISSPROT:Q9P2L0 ; xref: ENSEMBL:ENSG00000118965]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271
Cloverleaf skull - micromelic bone dysplasia
Thanatophoric dwarfism - cloverleaf skull
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274
Thanatophoric dysplasia, Glasgow variant
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93275
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279
Spondyloepimetaphyseal dysplasia, Pakistani type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282
Gene [OrphaNum:124077 ; Name:3'-phosphoadenosine 5'-phosphosulfate synthase 2 ; Symbol:PAPSS2 ; xref: GENATLAS:PAPSS2 ; xref: HGNC:8604 ; xref: OMIM:603005 ; xref: UNIPROTKB/SWISSPROT:O95340 ; xref: ENSEMBL:ENSG00000198682 ; xref: REACTOME:O95340]
Spondyloepiphyseal dysplasia, Kimberley type
Gene [OrphaNum:117718 ; Name:Aggrecan ; Symbol:ACAN ; xref: GENATLAS:ACAN ; xref: HGNC:319 ; xref: OMIM:155760 ; xref: UNIPROTKB/SWISSPROT:P16112 ; xref: ENSEMBL:ENSG00000157766]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283
Gene [OrphaNum:120241 ; Name:Trafficking protein particle complex 2 ; Symbol:TRAPPC2 ; xref: GENATLAS:TRAPPC2 ; xref: HGNC:23068 ; xref: OMIM:300202 ; xref: UNIPROTKB/SWISSPROT:O14582 ; xref: ENSEMBL:ENSG00000196459]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293
Gene [OrphaNum:118456 ; Name:Sal-like 4 (Drosophila) ; Symbol:SALL4 ; xref: GENATLAS:SALL4 ; xref: HGNC:15924 ; xref: OMIM:607343 ; xref: UNIPROTKB/SWISSPROT:Q9UJQ4 ; xref: ENSEMBL:ENSG00000101115]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299
Gene [OrphaNum:225372 ; Name:Thyroid hormone receptor interactor 11 ; Symbol:TRIP11 ; xref: ENSEMBL:ENSG00000100815 ; xref: GENATLAS:TRIP11 ; xref: HGNC:12305 ; xref: OMIM:604505 ; xref: UNIPROTKB/SWISSPROT:Q15643]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93301
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302
Potassium-sensitive normokalemic periodic paralysis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=680
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93303
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307
Gene [OrphaNum:120763 ; Name:Cartilage oligomeric matrix protein ; Symbol:COMP ; xref: GENATLAS:COMP ; xref: HGNC:2227 ; xref: OMIM:600310 ; xref: UNIPROTKB/SWISSPROT:P49747 ; xref: ENSEMBL:ENSG00000105664]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311
Gene [OrphaNum:123158 ; Name:Matrilin 3 ; Symbol:MATN3 ; xref: GENATLAS:MATN3 ; xref: HGNC:6909 ; xref: OMIM:602109 ; xref: UNIPROTKB/SWISSPROT:O15232 ; xref: ENSEMBL:ENSG00000132031]
Familial gonadotropin-independent male-limited sexual precocity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000
Gene [OrphaNum:123048 ; Name:Luteinizing hormone/choriogonadotropin receptor ; Symbol:LHCGR ; xref: GENATLAS:LHCGR ; xref: HGNC:6585 ; xref: OMIM:152790 ; xref: UNIPROTKB/SWISSPROT:P22888 ; xref: REACTOME:P22888 ; xref: IUPHAR:254 ; xref: ENSEMBL:ENSG00000138039]
Multiple epiphyseal dysplasia, unclassified type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93313
Spondylometaphyseal dysplasia, Kozlowski type
prevalence- 1-9 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316
Spondylometaphyseal dysplasia, Sedaghatian type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317
Congenital longitudinal deficiency of the ulna
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320
Congenital longitudinal deficiency of the radius
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321
Congenital aplasia and dysplasia of the tibia with intact fibula
Congenital longitudinal deficiency of the tibia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176
Congenital longitudinal deficiency of the fibula
prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323
Autosomal recessive Kenny-Caffey syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324
Gene [OrphaNum:119938 ; Name:Tubulin folding cofactor E ; Symbol:TBCE ; xref: GENATLAS:TBCE ; xref: HGNC:11582 ; xref: OMIM:604934 ; xref: UNIPROTKB/SWISSPROT:Q15813 ; xref: ENSEMBL:ENSG00000116957 ; xref: REACTOME:Q15813]
Autosomal dominant Kenny-Caffey syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328
Micromelic dysplasia - dislocation of radius
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329
Gene [OrphaNum:201551 ; Name:Glypican 6 ; Symbol:GPC6 ; xref: ENSEMBL:ENSG00000183098 ; xref: GENATLAS:GPC6 ; xref: HGNC:4454 ; xref: OMIM:604404 ; xref: UNIPROTKB/SWISSPROT:Q9Y625]
Gene [OrphaNum:169905 ; Name:T-box 15 ; Symbol:TBX15 ; xref: ENSEMBL:ENSG00000092607 ; xref: GENATLAS:TBX15 ; xref: HGNC:11594 ; xref: OMIM:604127 ; xref: UNIPROTKB/SWISSPROT:Q96SF7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3305
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346
Spondyloepimetaphyseal dysplasia, Menger type
Spondyloepimetaphyseal dysplasia, anauxetic type
Gene [OrphaNum:138742 ; Name:RNA component of mitochondrial RNA processing endoribonuclease ; Symbol:RMRP ; xref: GENATLAS:RMRP ; xref: HGNC:10031 ; xref: OMIM:157660 ; xref: ENSEMBL:ENSG00000199916]
Gene [OrphaNum:265545 ; Name:processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) ; Symbol:POP1 ; xref: ENSEMBL:ENSG00000104356 ; xref: HGNC:30129 ; xref: OMIM:602486 ; xref: GENATLAS:POP1 ; xref: UNIPROTKB/SWISSPROT:Q99575]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347
X-linked spondyloepimetaphyseal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349
Spondyloepimetaphyseal dysplasia, Irapa type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351
Spondyloepimetaphyseal dysplasia, Shohat type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352
Spondyloepimetaphyseal dysplasia, Missouri type
Gene [OrphaNum:123436 ; Name:Matrix metallopeptidase 13 (collagenase 3) ; Symbol:MMP13 ; xref: REACTOME:P45452 ; xref: GENATLAS:MMP13 ; xref: HGNC:7159 ; xref: OMIM:600108 ; xref: UNIPROTKB/SWISSPROT:P45452 ; xref: ENSEMBL:ENSG00000137745]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356
Spondyloepimetaphyseal dysplasia, Sponastrime type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Gene [OrphaNum:173530 ; Name:Discoidin domain receptor tyrosine kinase 2 ; Symbol:DDR2 ; xref: GENATLAS:DDR2 ; xref: HGNC:2731 ; xref: OMIM:191311 ; xref: UNIPROTKB/SWISSPROT:Q16832 ; xref: ENSEMBL:ENSG00000162733]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358
Spondyloepimetaphyseal dysplasia with joint laxity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93359
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type
Gene [OrphaNum:286634 ; Name:Kinesin family member 22 ; Symbol:KIF22 ; xref: REACTOME:Q14807 ; xref: GENATLAS:KIF22 ; xref: HGNC:6391 ; xref: OMIM:603213 ; xref: UNIPROTKB/SWISSPROT:Q14807 ; xref: ENSEMBL:ENSG00000079616]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93365
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93367
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- X-linked recessive;
Gene [OrphaNum:123978 ; Name:Oculocerebrorenal syndrome of Lowe ; Symbol:OCRL ; xref: GENATLAS:OCRL ; xref: HGNC:8108 ; xref: OMIM:300535 ; xref: UNIPROTKB/SWISSPROT:Q01968 ; xref: REACTOME:Q01968 ; xref: ENSEMBL:ENSG00000122126]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310
Familial hypocalciuric hypercalcemia type 1
Gene [OrphaNum:119185 ; Name:Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) ; Symbol:CASR ; xref: GENATLAS:CASR ; xref: HGNC:1514 ; xref: OMIM:601199 ; xref: UNIPROTKB/SWISSPROT:P41180 ; xref: ENSEMBL:ENSG00000036828 ; xref: IUPHAR:54 ; xref: REACTOME:P41180]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382
Gene [OrphaNum:118362 ; Name:Receptor tyrosine kinase-like orphan receptor 2 ; Symbol:ROR2 ; xref: GENATLAS:ROR2 ; xref: HGNC:10257 ; xref: OMIM:602337 ; xref: UNIPROTKB/SWISSPROT:Q01974 ; xref: ENSEMBL:ENSG00000169071]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384
Gene [OrphaNum:119053 ; Name:Bone morphogenetic protein receptor, type IB ; Symbol:BMPR1B ; xref: GENATLAS:BMPR1B ; xref: HGNC:1077 ; xref: OMIM:603248 ; xref: UNIPROTKB/SWISSPROT:O00238 ; xref: ENSEMBL:ENSG00000138696 ; xref: REACTOME:O00238]
Gene [OrphaNum:122066 ; Name:Growth differentiation factor 5 ; Symbol:GDF5 ; xref: GENATLAS:GDF5 ; xref: HGNC:4220 ; xref: OMIM:601146 ; xref: UNIPROTKB/SWISSPROT:P43026 ; xref: ENSEMBL:ENSG00000125965]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93385
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387
Gene [OrphaNum:122466 ; Name:Homeobox D13 ; Symbol:HOXD13 ; xref: GENATLAS:HOXD13 ; xref: HGNC:5136 ; xref: OMIM:142989 ; xref: UNIPROTKB/SWISSPROT:P35453 ; xref: ENSEMBL:ENSG00000128714]
Gene [OrphaNum:227063 ; Name:Parathyroid hormone-like hormone ; Symbol:PTHLH ; xref: HGNC:9607 ; xref: GENATLAS:PTHLH ; xref: OMIM:168470 ; xref: UNIPROTKB/SWISSPROT:P12272 ; xref: ENSEMBL:ENSG00000087494 ; xref: REACTOME:P12272]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93389
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93395
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396
Gene [OrphaNum:179459 ; Name:Bone morphogenetic protein 2 ; Symbol:BMP2 ; xref: ENSEMBL:ENSG00000125845 ; xref: REACTOME:P12643 ; xref: GENATLAS:BMP2 ; xref: HGNC:1069 ; xref: OMIM:112261 ; xref: UNIPROTKB/SWISSPROT:P12643]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399
Gene [OrphaNum:119493 ; Name:Solute carrier family 44, member 4 ; Symbol:SLC44A4 ; xref: ENSEMBL:ENSG00000204385 ; xref: REACTOME:Q53GD3 ; xref: GENATLAS:SLC44A4 ; xref: HGNC:13941 ; xref: OMIM:606107 ; xref: UNIPROTKB/SWISSPROT:Q53GD3]
Gene [OrphaNum:123759 ; Name:Sialidase 1 (lysosomal sialidase) ; Symbol:NEU1 ; xref: GENATLAS:NEU1 ; xref: HGNC:7758 ; xref: OMIM:608272 ; xref: UNIPROTKB/SWISSPROT:Q99519 ; xref: REACTOME:Q99519 ; xref: ENSEMBL:ENSG00000204386]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404
Gene [OrphaNum:123085 ; Name:Limb region 1 homolog (mouse) ; Symbol:LMBR1 ; xref: ENSEMBL:ENSG00000105983 ; xref: GENATLAS:LMBR1 ; xref: HGNC:13243 ; xref: OMIM:605522 ; xref: UNIPROTKB/SWISSPROT:Q8WVP7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405
Postaxial syndactyly with metacarpal synostosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93420
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93421
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93422
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93423
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93424
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93425
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93427
Multiple epiphyseal dysplasia and pseudoachondroplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93435
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440
Dysplasia of bones with multiple joint dislocations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443
Bone disease with increased bone density without modification of the bone shape
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444
Bone disease with increased bone density and metaphyseal or diaphyseal involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93445
Bone disease with decreased bone density
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446
Bone disease with defective bone mineralization
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447
Lysosomal storage disease with skeletal involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93448
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93449
Bone disease with disorganized development of skeletal components
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93450
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93451
Craniosynostosis syndrome or cranial ossification disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93452
Dysostosis with predominant craniofacial involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93453
Dysostosis with predominant vertebral and costal involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93454
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93455
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93456
Limb hypoplasia or limb reduction defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457
Polydactyly, syndactyly and/or hyperphalangy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711
Synostosis or other joint formation defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93460
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93461
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93465
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93466
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Gene [OrphaNum:122572 ; Name:Iduronidase, alpha-L- ; Symbol:IDUA ; xref: ENSEMBL:ENSG00000127415 ; xref: GENATLAS:IDUA ; xref: HGNC:5391 ; xref: OMIM:252800 ; xref: UNIPROTKB/SWISSPROT:P35475]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Young adult; Inheritance- Autosomal recessive;
Nonsyndromic renal or urinary tract malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546
Syndromic renal or urinary tract malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93550
Complement component receptor 1 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93553
Familial renal amyloidosis due to Apolipoprotein AI variant
Familial amyloid nephropathy due to Apolipoprotein AI variant
Hereditary amyloid nephropathy due to Apolipoprotein AI variant
Hereditary renal amyloidosis due to Apolipoprotein AI variant
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560
Familial renal amyloidosis due to lysozyme variant
Familial amyloid nephropathy due to lysozyme variant
Hereditary amyloid nephropathy due to lysozyme variant
Hereditary renal amyloidosis due to lysozyme variant
Gene [OrphaNum:123322 ; Name:Lysozyme (renal amyloidosis) ; Symbol:LYZ ; xref: REACTOME:P61626 ; xref: ENSEMBL:ENSG00000090382 ; xref: GENATLAS:LYZ ; xref: HGNC:6740 ; xref: OMIM:153450 ; xref: UNIPROTKB/SWISSPROT:P61626]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561
Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Familial amyloid nephropathy due to fibrinogen A alpha-chain variant
Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant
Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562
Gene [OrphaNum:121786 ; Name:Fibrinogen alpha chain ; Symbol:FGA ; xref: GENATLAS:FGA ; xref: HGNC:3661 ; xref: OMIM:134820 ; xref: UNIPROTKB/SWISSPROT:P02671 ; xref: ENSEMBL:ENSG00000171560 ; xref: REACTOME:P02671]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445
Membranoproliferative glomerulonephritis type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93570
Membranoproliferative glomerulonephritis type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571
Membranoproliferative glomerulonephritis type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93572
Atypical hemolytic uremic syndrome with C3 anomaly
Gene [OrphaNum:160064 ; Name:Complement component 3 ; Symbol:C3 ; xref: GENATLAS:C3 ; xref: HGNC:1318 ; xref: OMIM:120700 ; xref: UNIPROTKB/SWISSPROT:P01024 ; xref: REACTOME:P01024 ; xref: ENSEMBL:ENSG00000125730]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93575
Atypical hemolytic uremic syndrome with MCP/CD46 anomaly
Gene [OrphaNum:119259 ; Name:CD46 molecule, complement regulatory protein ; Symbol:CD46 ; xref: GENATLAS:CD46 ; xref: HGNC:6953 ; xref: OMIM:120920 ; xref: UNIPROTKB/SWISSPROT:P15529 ; xref: ENSEMBL:ENSG00000117335 ; xref: REACTOME:P15529]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93576
Atypical hemolytic uremic syndrome with B factor anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93578
Gene [OrphaNum:158379 ; Name:Complement factor B ; Symbol:CFB ; xref: GENATLAS:CFB ; xref: HGNC:1037 ; xref: OMIM:138470 ; xref: UNIPROTKB/SWISSPROT:P00751 ; xref: ENSEMBL:ENSG00000243649 ; xref: REACTOME:P00751]
Atypical hemolytic uremic syndrome with H factor anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93579
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7
Atypical hemolytic uremic syndrome with I factor anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93580
Gene [OrphaNum:119371 ; Name:Complement factor I ; Symbol:CFI ; xref: GENATLAS:CFI ; xref: HGNC:5394 ; xref: OMIM:217030 ; xref: UNIPROTKB/SWISSPROT:P05156 ; xref: ENSEMBL:ENSG00000205403 ; xref: REACTOME:P05156]
Atypical hemolytic uremic syndrome with antibody anti-factor H
Gene [OrphaNum:286593 ; Name:Complement factor H-related 3 ; Symbol:CFHR3 ; xref: HGNC:16980 ; xref: OMIM:605336 ; xref: GENATLAS:CFHR3 ; xref: UNIPROTKB/SWISSPROT:Q02985 ; xref: ENSEMBL:ENSG00000116785 ; xref: REACTOME:Q02985]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581
Gene [OrphaNum:286578 ; Name:Complement factor H-related 1 ; Symbol:CFHR1 ; xref: HGNC:4888 ; xref: OMIM:134371 ; xref: GENATLAS:CFHR1 ; xref: UNIPROTKB/SWISSPROT:Q03591 ; xref: ENSEMBL:ENSG00000244414]
Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
Gene [OrphaNum:117776 ; Name:ADAM metallopeptidase with thrombospondin type 1 motif, 13 ; Symbol:ADAMTS13 ; xref: GENATLAS:ADAMTS13 ; xref: HGNC:1366 ; xref: OMIM:604134 ; xref: UNIPROTKB/SWISSPROT:Q76LX8 ; xref: ENSEMBL:ENSG00000160323]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93587
Late-onset autosomal recessive medullary cystic kidney disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589
Infantile autosomal recessive medullary cystic kidney disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591
Gene [OrphaNum:260351 ; Name:tetratricopeptide repeat domain 21B ; Symbol:TTC21B ; xref: ENSEMBL:ENSG00000123607 ; xref: HGNC:25660 ; xref: OMIM:612014 ; xref: GENATLAS:TTC21B ; xref: UNIPROTKB/SWISSPROT:Q7Z4L5]
Juvenile autosomal recessive medullary cystic kidney disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592
Gene [OrphaNum:168309 ; Name:GLIS family zinc finger 2 ; Symbol:GLIS2 ; xref: GENATLAS:GLIS2 ; xref: HGNC:29450 ; xref: OMIM:608539 ; xref: UNIPROTKB/SWISSPROT:Q9BZE0 ; xref: ENSEMBL:ENSG00000126603]
Nephropathy secondary to a storage or other metabolic disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93593
Gene [OrphaNum:200946 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 ; Symbol:SERPINA3 ; xref: ENSEMBL:ENSG00000196136 ; xref: GENATLAS:SERPINA3 ; xref: HGNC:16 ; xref: OMIM:107280 ; xref: UNIPROTKB/SWISSPROT:Q6NSC9]
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93594
Peroxisomal alanine-glyoxylate aminotransferase deficiency
Gene [OrphaNum:119538 ; Name:Alanine-glyoxylate aminotransferase ; Symbol:AGXT ; xref: GENATLAS:AGXT ; xref: HGNC:341 ; xref: OMIM:604285 ; xref: UNIPROTKB/SWISSPROT:P21549 ; xref: ENSEMBL:ENSG00000172482 ; xref: REACTOME:P21549]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598
Gene [OrphaNum:122278 ; Name:Glyoxylate reductase/hydroxypyruvate reductase ; Symbol:GRHPR ; xref: GENATLAS:GRHPR ; xref: HGNC:4570 ; xref: OMIM:604296 ; xref: UNIPROTKB/SWISSPROT:Q9UBQ7 ; xref: REACTOME:Q9UBQ7 ; xref: ENSEMBL:ENSG00000137106]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600
Gene [OrphaNum:242313 ; Name:Dihydrodipicolinate synthase-like, mitochondrial ; Symbol:HOGA1 ; xref: GENATLAS:DHDPSL ; xref: HGNC:25155 ; xref: OMIM:613597 ; xref: UNIPROTKB/SWISSPROT:Q86XE5 ; xref: ENSEMBL:ENSG00000241935]
Gene [OrphaNum:120558 ; Name:Xanthine dehydrogenase ; Symbol:XDH ; xref: GENATLAS:XDH ; xref: HGNC:12805 ; xref: OMIM:607633 ; xref: UNIPROTKB/SWISSPROT:P47989 ; xref: ENSEMBL:ENSG00000158125 ; xref: REACTOME:P47989]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602
Gene [OrphaNum:123447 ; Name:Molybdenum cofactor sulfurase ; Symbol:MOCOS ; xref: ENSEMBL:ENSG00000075643 ; xref: GENATLAS:MOCOS ; xref: HGNC:18234 ; xref: OMIM:NULL ; xref: UNIPROTKB/SWISSPROT:Q96EN8 ; xref: REACTOME:Q96EN8]
Gene [OrphaNum:122783 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 1 ; Symbol:KCNJ1 ; xref: GENATLAS:KCNJ1 ; xref: HGNC:6255 ; xref: OMIM:600359 ; xref: UNIPROTKB/SWISSPROT:P48048 ; xref: IUPHAR:429 ; xref: ENSEMBL:ENSG00000151704 ; xref: REACTOME:P48048]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93604
Gene [OrphaNum:118737 ; Name:Solute carrier family 12 (sodium/potassium/chloride transporters), member 1 ; Symbol:SLC12A1 ; xref: GENATLAS:SLC12A1 ; xref: HGNC:10910 ; xref: OMIM:600839 ; xref: UNIPROTKB/SWISSPROT:Q13621 ; xref: ENSEMBL:ENSG00000074803 ; xref: REACTOME:Q13621]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605
Nephrogenic syndrome of inappropriate antidiuresis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606
Hydrocephalus - cleft palate - joint contractures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916
Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit
Gene [OrphaNum:119685 ; Name:Solute carrier family 4, sodium bicarbonate cotransporter, member 4 ; Symbol:SLC4A4 ; xref: GENATLAS:SLC4A4 ; xref: HGNC:11030 ; xref: OMIM:603345 ; xref: UNIPROTKB/SWISSPROT:Q9Y6R1 ; xref: REACTOME:Q9Y6R1 ; xref: ENSEMBL:ENSG00000080493]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607
Autosomal dominant renal tubular acidosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608
Autosomal recessive renal tubular acidosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93609
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93611
Gene [OrphaNum:123426 ; Name:Solute carrier family 3 (cystine and activator, dibasic and neutral amino acid transporters/transport), member 1 ; Symbol:SLC3A1 ; xref: GENATLAS:SLC3A1 ; xref: HGNC:11025 ; xref: OMIM:104614 ; xref: UNIPROTKB/SWISSPROT:Q07837 ; xref: REACTOME:Q07837 ; xref: ENSEMBL:ENSG00000138079]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613
Gene [OrphaNum:119713 ; Name:Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 ; Symbol:SLC7A9 ; xref: GENATLAS:SLC7A9 ; xref: HGNC:11067 ; xref: OMIM:604144 ; xref: UNIPROTKB/SWISSPROT:P82251 ; xref: REACTOME:P82251 ; xref: ENSEMBL:ENSG00000021488]
Hematological disorder with renal involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93614
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616
Gene [OrphaNum:138671 ; Name:Hemoglobin, alpha 1 ; Symbol:HBA1 ; xref: GENATLAS:HBA1 ; xref: HGNC:4823 ; xref: OMIM:141800 ; xref: UNIPROTKB/SWISSPROT:P69905 ; xref: ENSEMBL:ENSG00000206172]
Gene [OrphaNum:122374 ; Name:Hemoglobin, alpha 2 ; Symbol:HBA2 ; xref: GENATLAS:HBA2 ; xref: HGNC:4824 ; xref: OMIM:141850 ; xref: UNIPROTKB/SWISSPROT:P69905 ; xref: ENSEMBL:ENSG00000188536]
Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness
Gene [OrphaNum:121287 ; Name:Endothelin receptor type B ; Symbol:EDNRB ; xref: GENATLAS:EDNRB ; xref: HGNC:3180 ; xref: OMIM:131244 ; xref: UNIPROTKB/SWISSPROT:P24530 ; xref: ENSEMBL:ENSG00000136160 ; xref: IUPHAR:220 ; xref: REACTOME:P24530]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=918
Gene [OrphaNum:119453 ; Name:Chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease) ; Symbol:CLCN5 ; xref: ENSEMBL:ENSG00000171365 ; xref: GENATLAS:CLCN5 ; xref: HGNC:2023 ; xref: OMIM:300008 ; xref: UNIPROTKB/SWISSPROT:P51795]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921
Gene [OrphaNum:119735 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ; Symbol:SMARCB1 ; xref: GENATLAS:SMARCB1 ; xref: HGNC:11103 ; xref: OMIM:601607 ; xref: UNIPROTKB/SWISSPROT:Q12824 ; xref: ENSEMBL:ENSG00000099956]
Gene [OrphaNum:123774 ; Name:Neurofibromin 2 (bilateral acoustic neuroma) ; Symbol:NF2 ; xref: ENSEMBL:ENSG00000186575 ; xref: GENATLAS:NF2 ; xref: HGNC:7773 ; xref: OMIM:607379 ; xref: UNIPROTKB/SWISSPROT:P35240]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921
Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075]
Gene [OrphaNum:120072 ; Name:TGFB-induced factor homeobox 1 ; Symbol:TGIF1 ; xref: GENATLAS:TGIF1 ; xref: HGNC:11776 ; xref: OMIM:602630 ; xref: UNIPROTKB/SWISSPROT:Q15583 ; xref: ENSEMBL:ENSG00000177426]
Gene [OrphaNum:281953 ; Name:Delta-like 1 (Drosophila) ; Symbol:DLL1 ; xref: ENSEMBL:ENSG00000198719 ; xref: REACTOME:O00548 ; xref: HGNC:2908 ; xref: OMIM:606582 ; xref: GENATLAS:DLL1 ; xref: UNIPROTKB/SWISSPROT:O00548]
Gene [OrphaNum:242325 ; Name:Dispatched homolog 1 (Drosophila) ; Symbol:DISP1 ; xref: GENATLAS:DISP1 ; xref: HGNC:19711 ; xref: OMIM:607502 ; xref: ENSEMBL:ENSG00000154309 ; xref: UNIPROTKB/SWISSPROT:Q96F81]
Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690]
Gene [OrphaNum:285758 ; Name:Growth arrest-specific 1 ; Symbol:GAS1 ; xref: GENATLAS:GAS1 ; xref: HGNC:4165 ; xref: UNIPROTKB/SWISSPROT:P54826 ; xref: OMIM:139185 ; xref: ENSEMBL:ENSG00000180447]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924
Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42]
Gene [OrphaNum:138518 ; Name:Teratocarcinoma-derived growth factor 1 ; Symbol:TDGF1 ; xref: GENATLAS:TDGF1 ; xref: HGNC:11701 ; xref: OMIM:187395 ; xref: UNIPROTKB/SWISSPROT:P13385 ; xref: ENSEMBL:ENSG00000241186 ; xref: REACTOME:P13385]
Gene [OrphaNum:159600 ; Name:Forkhead box H1 ; Symbol:FOXH1 ; xref: GENATLAS:FOXH1 ; xref: HGNC:3814 ; xref: OMIM:603621 ; xref: UNIPROTKB/SWISSPROT:O75593 ; xref: ENSEMBL:ENSG00000160973 ; xref: REACTOME:O75593]
Gene [OrphaNum:118725 ; Name:SIX homeobox 3 ; Symbol:SIX3 ; xref: GENATLAS:SIX3 ; xref: HGNC:10889 ; xref: OMIM:603714 ; xref: UNIPROTKB/SWISSPROT:O95343 ; xref: ENSEMBL:ENSG00000138083]
Gene [OrphaNum:138516 ; Name:GLI-Kruppel family member GLI2 ; Symbol:GLI2 ; xref: GENATLAS:GLI2 ; xref: HGNC:4318 ; xref: OMIM:165230 ; xref: UNIPROTKB/SWISSPROT:P10070 ; xref: ENSEMBL:ENSG00000074047]
Gene [OrphaNum:118121 ; Name:Patched homolog 1 (Drosophila) ; Symbol:PTCH1 ; xref: GENATLAS:PTCH1 ; xref: HGNC:9585 ; xref: OMIM:601309 ; xref: UNIPROTKB/SWISSPROT:Q13635 ; xref: REACTOME:Q13635 ; xref: ENSEMBL:ENSG00000185920]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
Gene [OrphaNum:120610 ; Name:Zic family member 2 (odd-paired homolog, Drosophila) ; Symbol:ZIC2 ; xref: GENATLAS:ZIC2 ; xref: HGNC:12873 ; xref: OMIM:603073 ; xref: UNIPROTKB/SWISSPROT:O95409 ; xref: ENSEMBL:ENSG00000043355]
Gene [OrphaNum:279776 ; Name:Cdon homolog (mouse) ; Symbol:CDON ; xref: ENSEMBL:ENSG00000064309 ; xref: REACTOME:Q4KMG0 ; xref: HGNC:17104 ; xref: OMIM:608707 ; xref: UNIPROTKB/SWISSPROT:Q4KMG0 ; xref: GENATLAS:CDON]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925
Midline interhemispheric variant of holoprosencephaly
Middle interhemispheric variant of holoprosencephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928
prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Omphalocele - cloacal exstrophy - imperforate anus - spinal defect
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93937
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941
X-linked intellectual deficit, Fichera type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93944
X-linked intellectual deficit, Porteous type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Gene [OrphaNum:117983 ; Name:Polyglutamine binding protein 1 ; Symbol:PQBP1 ; xref: GENATLAS:PQBP1 ; xref: HGNC:9330 ; xref: OMIM:300463 ; xref: UNIPROTKB/SWISSPROT:O60828 ; xref: ENSEMBL:ENSG00000102103]
X-linked intellectual deficit, Golabi-Ito-Hall type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947
X-linked intellectual deficit, Sutherland-Haan type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950
X-linked dominant intellectual deficit - epilepsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93951
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297
Gene [OrphaNum:122664 ; Name:Insulin receptor ; Symbol:INSR ; xref: GENATLAS:INSR ; xref: HGNC:6091 ; xref: OMIM:147670 ; xref: UNIPROTKB/SWISSPROT:P06213 ; xref: ENSEMBL:ENSG00000171105 ; xref: REACTOME:P06213]
X-linked recessive intellectual deficit - epilepsy
Gene [OrphaNum:118855 ; Name:ATPase, H+ transporting, lysosomal accessory protein 2 ; Symbol:ATP6AP2 ; xref: GENATLAS:ATP6AP2 ; xref: HGNC:18305 ; xref: OMIM:300556 ; xref: UNIPROTKB/SWISSPROT:O75787 ; xref: ENSEMBL:ENSG00000182220]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown;
Gene [OrphaNum:121181 ; Name:Dopamine receptor D5 ; Symbol:DRD5 ; xref: GENATLAS:DRD5 ; xref: HGNC:3026 ; xref: OMIM:126453 ; xref: UNIPROTKB/SWISSPROT:P21918 ; xref: IUPHAR:218 ; xref: REACTOME:P21918 ; xref: ENSEMBL:ENSG00000169676]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93955
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93956
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93957
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93958
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93961
Gene [OrphaNum:139899 ; Name:Dystonia 7, torsion (autosomal dominant) ; Symbol:DYT7 ; xref: HGNC:3107 ; xref: OMIM:602124]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93962
Autosomal dominant focal dystonia, DYT7 type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93963
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93964
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969
Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93970
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93971
Achalasia - addisonianism - alacrima syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869
Gene [OrphaNum:117613 ; Name:Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) ; Symbol:AAAS ; xref: GENATLAS:AAAS ; xref: HGNC:13666 ; xref: OMIM:605378 ; xref: UNIPROTKB/SWISSPROT:Q9NRG9 ; xref: REACTOME:Q9NRG9 ; xref: ENSEMBL:ENSG00000094914]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93972
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93973
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93974
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93975
Gene [OrphaNum:159716 ; Name:Homeobox A2 ; Symbol:HOXA2 ; xref: GENATLAS:HOXA2 ; xref: HGNC:5103 ; xref: OMIM:604685 ; xref: UNIPROTKB/SWISSPROT:O43364 ; xref: ENSEMBL:ENSG00000105996]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929
Macrocephaly - immune deficiency - anemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94061
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94062
Gene [OrphaNum:159752 ; Name:Low density lipoprotein receptor-related protein 6 ; Symbol:LRP6 ; xref: GENATLAS:LRP6 ; xref: HGNC:6698 ; xref: OMIM:603507 ; xref: UNIPROTKB/SWISSPROT:O75581 ; xref: ENSEMBL:ENSG00000070018]
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal dominant;
Osteopoikilosis - short stature - intellectual deficit
Gene [OrphaNum:248487 ; Name:High mobility group AT-hook 2 ; Symbol:HMGA2 ; xref: ENSEMBL:ENSG00000149948 ; xref: GENATLAS:HMGA2 ; xref: HGNC:5009 ; xref: UNIPROTKB/SWISSPROT:P52926 ; xref: OMIM:600698]
Gene [OrphaNum:123031 ; Name:LEM domain containing 3 ; Symbol:LEMD3 ; xref: GENATLAS:LEMD3 ; xref: HGNC:28887 ; xref: OMIM:607844 ; xref: UNIPROTKB/SWISSPROT:Q9Y2U8 ; xref: ENSEMBL:ENSG00000174106]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064
Gene [OrphaNum:159339 ; Name:Cation channel, sperm associated 2 ; Symbol:CATSPER2 ; xref: IUPHAR:389 ; xref: ENSEMBL:ENSG00000166762 ; xref: GENATLAS:CATSPER ; xref: HGNC:18810 ; xref: OMIM:607249 ; xref: UNIPROTKB/SWISSPROT:Q96P56]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931
X-linked intellectual deficit - dystonia - dysarthria
Gene [OrphaNum:121437 ; Name:Aristaless related homeobox ; Symbol:ARX ; xref: GENATLAS:ARX ; xref: HGNC:18060 ; xref: OMIM:300382 ; xref: UNIPROTKB/SWISSPROT:Q96QS3 ; xref: ENSEMBL:ENSG00000004848]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083
Pachygyria - epilepsy - intellectual deficit - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94084
Familial hypercalcemia - nephrocalcinosis - indicanuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086
Gene [OrphaNum:166795 ; Name:Solute carrier family 22 (organic anion/urate transporter), member 12 ; Symbol:SLC22A12 ; xref: GENATLAS:SLC22A12 ; xref: HGNC:17989 ; xref: OMIM:607096 ; xref: UNIPROTKB/SWISSPROT:Q96S37 ; xref: REACTOME:Q96S37 ; xref: ENSEMBL:ENSG00000197891]
Gene [OrphaNum:171045 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 9 ; Symbol:SLC2A9 ; xref: GENATLAS:SLC2A9 ; xref: HGNC:13446 ; xref: OMIM:606142 ; xref: UNIPROTKB/SWISSPROT:Q9NRM0 ; xref: ENSEMBL:ENSG00000109667 ; xref: REACTOME:Q9NRM0]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088
Gene [OrphaNum:167897 ; Name:Syntaxin 16 ; Symbol:STX16 ; xref: GENATLAS:STX16 ; xref: HGNC:11431 ; xref: OMIM:603666 ; xref: UNIPROTKB/SWISSPROT:Q9H0Z0 ; xref: ENSEMBL:ENSG00000124222 ; xref: REACTOME:Q9H0Z0]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932
Spondylocostal dysostosis - anal and genitourinary malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94095
Gene [OrphaNum:121472 ; Name:Ataxia, cerebellar, Cayman type (caytaxin) ; Symbol:ATCAY ; xref: GENATLAS:ATCAY ; xref: HGNC:779 ; xref: OMIM:608179 ; xref: UNIPROTKB/SWISSPROT:Q86WG3 ; xref: ENSEMBL:ENSG00000167654]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122
Spinocerebellar ataxia type 1 with axonal neuropathy
Gene [OrphaNum:120006 ; Name:Tyrosyl-DNA phosphodiesterase 1 ; Symbol:TDP1 ; xref: OMIM:607198 ; xref: UNIPROTKB/SWISSPROT:Q9NUW8 ; xref: GENATLAS:TDP1 ; xref: HGNC:18884 ; xref: ENSEMBL:ENSG00000042088 ; xref: REACTOME:Q9NUW8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125
Autosomal dominant cerebellar ataxia type 1
Autosomal dominant cerebellar ataxia type I
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145
Autosomal dominant spinocerebellar ataxia type 7
Cerebellar syndrome - pigmentary maculopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147
Gene [OrphaNum:118934 ; Name:Ataxin 7 ; Symbol:ATXN7 ; xref: GENATLAS:ATXN7 ; xref: HGNC:10560 ; xref: OMIM:607640 ; xref: UNIPROTKB/SWISSPROT:O15265 ; xref: ENSEMBL:ENSG00000163635]
Autosomal dominant cerebellar ataxia type 3
Autosomal dominant cerebellar ataxia type III
Pure cerebellar syndrome - mild pyramidal signs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148
Autosomal dominant cerebellar ataxia type 4
Autosomal dominant cerebellar ataxia type IV
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Achondroplasia - severe combined immunodeficiency
Achondroplasia and Swiss-type agammaglobulinemia
Immunodeficiency with short limb dwarfism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159
Gene [OrphaNum:120429 ; Name:Uroporphyrinogen decarboxylase ; Symbol:UROD ; xref: HGNC:12591 ; xref: UNIPROTKB/SWISSPROT:P06132 ; xref: OMIM:613521 ; xref: GENATLAS:UROD ; xref: ENSEMBL:ENSG00000126088 ; xref: REACTOME:P06132]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232
Gene [OrphaNum:124062 ; Name:Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa ; Symbol:PAFAH1B1 ; xref: GENATLAS:PAFAH1B1 ; xref: HGNC:8574 ; xref: OMIM:601545 ; xref: UNIPROTKB/SWISSPROT:P43034 ; xref: REACTOME:P43034 ; xref: ENSEMBL:ENSG00000007168]
Short bowel syndrome due to necrotizing enterocolitis
Short bowel syndrome due to surgical resection
Short bowel syndrome due to total or sub-total aganglionosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428
Gene [OrphaNum:123357 ; Name:Component of oligomeric golgi complex 8 ; Symbol:COG8 ; xref: GENATLAS:COG8 ; xref: HGNC:18623 ; xref: OMIM:606979 ; xref: UNIPROTKB/SWISSPROT:Q96MW5 ; xref: ENSEMBL:ENSG00000213380]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430
Alpha-ketoglutarate dehydrogenase deficiency
Gene [OrphaNum:123986 ; Name:Oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) ; Symbol:OGDH ; xref: GENATLAS:OGDH ; xref: HGNC:8124 ; xref: OMIM:613022 ; xref: UNIPROTKB/SWISSPROT:Q02218 ; xref: ENSEMBL:ENSG00000105953 ; xref: REACTOME:Q02218]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31
Autosomal recessive cerebellar ataxia - blindness - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433
Autosomal recessive cerebellar ataxia - saccadic intrusion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434
Gene [OrphaNum:159910 ; Name:Mitogen-activated protein kinase 1 ; Symbol:MAPK1 ; xref: GENATLAS:MAPK1 ; xref: HGNC:6871 ; xref: OMIM:176948 ; xref: UNIPROTKB/SWISSPROT:P28482 ; xref: ENSEMBL:ENSG00000100030 ; xref: REACTOME:P28482]
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:119016 ; Name:Breakpoint cluster region ; Symbol:BCR ; xref: ENSEMBL:ENSG00000186716 ; xref: REACTOME:P11274 ; xref: GENATLAS:BCR ; xref: HGNC:1014 ; xref: OMIM:151410 ; xref: UNIPROTKB/SWISSPROT:P11274]
Gene [OrphaNum:121435 ; Name:Armadillo repeat gene deletes in velocardiofacial syndrome ; Symbol:ARVCF ; xref: GENATLAS:ARVCF ; xref: HGNC:728 ; xref: OMIM:602269 ; xref: UNIPROTKB/SWISSPROT:O00192 ; xref: ENSEMBL:ENSG00000099889]
Gene [OrphaNum:119953 ; Name:T-box 1 ; Symbol:TBX1 ; xref: GENATLAS:TBX1 ; xref: HGNC:11592 ; xref: OMIM:602054 ; xref: UNIPROTKB/SWISSPROT:O43435 ; xref: ENSEMBL:ENSG00000184058]
Gene [OrphaNum:286557 ; Name:HIR histone cell cycle regulation defective homolog A (S. cerevisiae) ; Symbol:HIRA ; xref: ENSEMBL:ENSG00000100084 ; xref: HGNC:4916 ; xref: OMIM:600237 ; xref: GENATLAS:HIRA ; xref: UNIPROTKB/SWISSPROT:P54198]
Gene [OrphaNum:159084 ; Name:Ubiquitin fusion degradation 1 like ; Symbol:UFD1L ; xref: GENATLAS:UFD1L ; xref: HGNC:12520 ; xref: OMIM:601754 ; xref: UNIPROTKB/SWISSPROT:Q92890 ; xref: ENSEMBL:ENSG00000070010]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=942
Nonacquired pituitary hormone deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95488
Combined pituitary hormone deficiencies, genetic forms
Multiple pituitary hormone deficiencies, genetic forms
prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Gene [OrphaNum:117948 ; Name:POU class 1 homeobox 1 ; Symbol:POU1F1 ; xref: GENATLAS:POU1F1 ; xref: HGNC:9210 ; xref: OMIM:173110 ; xref: UNIPROTKB/SWISSPROT:P28069 ; xref: ENSEMBL:ENSG00000064835]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494
Gene [OrphaNum:122398 ; Name:HESX homeobox 1 ; Symbol:HESX1 ; xref: GENATLAS:HESX1 ; xref: HGNC:4877 ; xref: OMIM:601802 ; xref: UNIPROTKB/SWISSPROT:Q9UBX0 ; xref: ENSEMBL:ENSG00000163666]
Gene [OrphaNum:124040 ; Name:Orthodenticle homeobox 2 ; Symbol:OTX2 ; xref: GENATLAS:OTX2 ; xref: HGNC:8522 ; xref: OMIM:600037 ; xref: UNIPROTKB/SWISSPROT:P32243 ; xref: ENSEMBL:ENSG00000165588]
Disease associated with nonacquired combined pituitary hormone deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95495
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Before age 5; Inheritance- Sporadic; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95502
Pituitary hormone deficiency from tumoral origin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95503
Pituitary hormone deficiency from meningeal origin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95505
Vitamin B12-unresponsive methylmalonic acidemia
Methylmalonyl-Coenzyme A mutase deficiency
Vitamin B12-unresponsive methylmalonic aciduria
Gene [OrphaNum:181982 ; Name:Methylmalonyl CoA epimerase ; Symbol:MCEE ; xref: ENSEMBL:ENSG00000124370 ; xref: GENATLAS:MCEE ; xref: HGNC:16732 ; xref: OMIM:608419 ; xref: UNIPROTKB/SWISSPROT:Q96PE7 ; xref: REACTOME:Q96PE7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95506
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95512
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95513
Pituitary hormone defiency from vascular origin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95611
prevalence- No data available; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95613
Pituitary hormone deficiency secondary to a granulomatous disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95617
Pituitary hormone deficiency secondary to storage disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95618
Iatrogenic or traumatic pituitary deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95619
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=946
Idiopathic acquired central diabetes insipidus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95626
Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95698
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Familial adrenal hypoplasia, miniature type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700
Cytomegalic congenital adrenal hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95708
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95710
Congenital hypothyroidism due to developmental anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712
Gene [OrphaNum:121895 ; Name:Forkhead box E1 (thyroid transcription factor 2) ; Symbol:FOXE1 ; xref: GENATLAS:FOXE1 ; xref: HGNC:3806 ; xref: OMIM:602617 ; xref: UNIPROTKB/SWISSPROT:O00358 ; xref: ENSEMBL:ENSG00000178919]
Gene [OrphaNum:124103 ; Name:Paired box 8 ; Symbol:PAX8 ; xref: GENATLAS:PAX8 ; xref: HGNC:8622 ; xref: OMIM:167415 ; xref: UNIPROTKB/SWISSPROT:Q06710 ; xref: ENSEMBL:ENSG00000125618]
Gene [OrphaNum:123797 ; Name:NK2 transcription factor related, locus 5 (Drosophila) ; Symbol:NKX2-5 ; xref: GENATLAS:NKX2-5 ; xref: HGNC:2488 ; xref: OMIM:600584 ; xref: UNIPROTKB/SWISSPROT:P52952 ; xref: ENSEMBL:ENSG00000183072]
Gene [OrphaNum:156077 ; Name:NK2 homeobox 1 ; Symbol:NKX2-1 ; xref: ENSEMBL:ENSG00000136352 ; xref: HGNC:11825 ; xref: OMIM:600635 ; xref: UNIPROTKB/SWISSPROT:P43699 ; xref: GENATLAS:NKX2-1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713
Primary congenital hypothyroidism without thyroid developmental anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95715
Gene [OrphaNum:168179 ; Name:Dual oxidase maturation factor 2 ; Symbol:DUOXA2 ; xref: GENATLAS:DUOXA2 ; xref: HGNC:32698 ; xref: UNIPROTKB/SWISSPROT:Q1HG44 ; xref: ENSEMBL:ENSG00000140274 ; xref: OMIM:612772]
Gene [OrphaNum:168347 ; Name:Thyroglobulin ; Symbol:TG ; xref: GENATLAS:TG ; xref: HGNC:11764 ; xref: OMIM:188450 ; xref: UNIPROTKB/SWISSPROT:Q9UNY3 ; xref: ENSEMBL:ENSG00000042832]
Gene [OrphaNum:121233 ; Name:Dual oxidase 2 ; Symbol:DUOX2 ; xref: GENATLAS:DUOX2 ; xref: HGNC:13273 ; xref: OMIM:606759 ; xref: UNIPROTKB/SWISSPROT:Q9NRD8 ; xref: ENSEMBL:ENSG00000140279]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716
Gene [OrphaNum:120233 ; Name:Thyroid peroxidase ; Symbol:TPO ; xref: GENATLAS:TPO ; xref: HGNC:12015 ; xref: OMIM:606765 ; xref: UNIPROTKB/SWISSPROT:P07202 ; xref: ENSEMBL:ENSG00000115705 ; xref: REACTOME:P07202]
Gene [OrphaNum:119700 ; Name:Solute carrier family 5 (sodium iodide symporter), member 5 ; Symbol:SLC5A5 ; xref: GENATLAS:SLC5A5 ; xref: HGNC:11040 ; xref: OMIM:601843 ; xref: UNIPROTKB/SWISSPROT:Q92911 ; xref: ENSEMBL:ENSG00000105641 ; xref: REACTOME:Q92911]
Gene [OrphaNum:201101 ; Name:Iodotyrosine deiodinase ; Symbol:IYD ; xref: REACTOME:Q6PHW0 ; xref: ENSEMBL:ENSG00000009765 ; xref: GENATLAS:IYD ; xref: HGNC:21071 ; xref: OMIM:612025 ; xref: UNIPROTKB/SWISSPROT:Q6PHW0]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96055
Acrodermatitis enteropathica, zinc deficiency type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37
Gene [OrphaNum:119482 ; Name:Solute carrier family 39 (zinc transporter), member 4 ; Symbol:SLC39A4 ; xref: ENSEMBL:ENSG00000147804 ; xref: REACTOME:Q6P5W5 ; xref: GENATLAS:SLC39A4 ; xref: HGNC:17129 ; xref: OMIM:607059 ; xref: UNIPROTKB/SWISSPROT:Q6P5W5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96059
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96060
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96063
Gene [OrphaNum:299630 ; Name:Phosphodiesterase 4D, cAMP-specific ; Symbol:PDE4D ; xref: GENATLAS:PDE4D ; xref: HGNC:8783 ; xref: OMIM:600129 ; xref: UNIPROTKB/SWISSPROT:Q08499]
Gene [OrphaNum:118010 ; Name:Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) ; Symbol:PRKAR1A ; xref: GENATLAS:PRKAR1A ; xref: HGNC:9388 ; xref: OMIM:188830 ; xref: UNIPROTKB/SWISSPROT:P10644 ; xref: ENSEMBL:ENSG00000108946 ; xref: REACTOME:P10644]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96068
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96069
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96071
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96074
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1795
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96094
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095
Gene [OrphaNum:121639 ; Name:Ellis van Creveld syndrome 2 (limbin) ; Symbol:EVC2 ; xref: GENATLAS:EVC2 ; xref: HGNC:19747 ; xref: OMIM:607261 ; xref: UNIPROTKB/SWISSPROT:Q86UK5 ; xref: ENSEMBL:ENSG00000173040]
Gene [OrphaNum:121636 ; Name:Ellis van Creveld syndrome ; Symbol:EVC ; xref: GENATLAS:EVC ; xref: HGNC:3497 ; xref: OMIM:604831 ; xref: UNIPROTKB/SWISSPROT:P57679 ; xref: ENSEMBL:ENSG00000072840]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96096
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96097
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96098
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96100
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96101
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96103
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96105
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96106
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96107
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96109
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96112
Acromesomelic dysplasia, Brahimi-Bacha type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=953
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96123
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96126
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96129
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955
Gene [OrphaNum:123858 ; Name:Notch 2 ; Symbol:NOTCH2 ; xref: GENATLAS:NOTCH2 ; xref: HGNC:7882 ; xref: OMIM:600275 ; xref: UNIPROTKB/SWISSPROT:Q04721 ; xref: ENSEMBL:ENSG00000134250 ; xref: REACTOME:Q04721]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96136
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96145
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=956
Kleefstra syndrome due to 9q subtelomeric deletion
Kleefstra syndrome due to 9q34 microdeletion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147
Gene [OrphaNum:226051 ; Name:Euchromatic histone-lysine N-methyltransferase 1 ; Symbol:EHMT1 ; xref: GENATLAS:EHMT1 ; xref: HGNC:24650 ; xref: OMIM:607001 ; xref: UNIPROTKB/SWISSPROT:Q9H9B1 ; xref: ENSEMBL:ENSG00000181090]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96149
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96150
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96152
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96160
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96164
Split hand/split foot - mandibular hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96167
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169
Gene [OrphaNum:303739 ; Name:KAT8 regulatory NSL complex subunit 1 ; Symbol:KANSL1 ; xref: HGNC:24565 ; xref: OMIM:612452 ; xref: GENATLAS:KANSL1 ; xref: UNIPROTKB/SWISSPROT:Q7Z3B3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96172
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178
Maternal uniparental disomy of chromosome 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96179
Maternal uniparental disomy of chromosome 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96180
Maternal uniparental disomy of chromosome 6
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182
Maternal uniparental disomy of chromosome 9
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96183
Maternal uniparental disomy of chromosome 14
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184
Gene [OrphaNum:159533 ; Name:Delta-like 1 homolog (Drosophila) ; Symbol:DLK1 ; xref: GENATLAS:DLK1 ; xref: HGNC:2907 ; xref: OMIM:176290 ; xref: UNIPROTKB/SWISSPROT:P80370 ; xref: ENSEMBL:ENSG00000185559 ; xref: REACTOME:P80370]
Gene [OrphaNum:159161 ; Name:Retrotransposon-like 1 ; Symbol:RTL1 ; xref: GENATLAS:RTL1 ; xref: HGNC:14665 ; xref: OMIM:611896 ; xref: UNIPROTKB/SWISSPROT:A6NKG5 ; xref: ENSEMBL:ENSG00000254656]
Gene [OrphaNum:159158 ; Name:Maternally expressed 3 ; Symbol:MEG3 ; xref: GENATLAS:MEG3 ; xref: HGNC:14575 ; xref: OMIM:605636 ; xref: UNIPROTKB/SWISSPROT:Q9UI56 ; xref: ENSEMBL:ENSG00000214548]
Maternal uniparental disomy of chromosome 16
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185
Maternal uniparental disomy of chromosome 20
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186
Maternal uniparental disomy of chromosome 21
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187
Maternal uniparental disomy of chromosome 22
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188
Paternal uniparental disomy of chromosome 5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96190
Paternal uniparental disomy of chromosome 6
Gene [OrphaNum:159813 ; Name:Pleiomorphic adenoma gene-like 1 ; Symbol:PLAGL1 ; xref: GENATLAS:PLAGL1 ; xref: HGNC:9046 ; xref: OMIM:603044 ; xref: UNIPROTKB/SWISSPROT:Q9UM63 ; xref: ENSEMBL:ENSG00000118495]
Gene [OrphaNum:159723 ; Name:Hydatidiform mole associated and imprinted ; Symbol:HYMAI ; xref: GENATLAS:HYMAI ; xref: HGNC:5326 ; xref: OMIM:606546]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191
Paternal uniparental disomy of chromosome 7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96192
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Mosaic paternal uniparental disomy of chromosome 11
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Paternal uniparental disomy of chromosome 20
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96194
Paternal uniparental disomy of chromosome 21
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96195
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96210
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96254
Gene [OrphaNum:200951 ; Name:Aryl hydrocarbon receptor interacting protein ; Symbol:AIP ; xref: ENSEMBL:ENSG00000110711 ; xref: GENATLAS:AIP ; xref: HGNC:358 ; xref: OMIM:605555 ; xref: UNIPROTKB/SWISSPROT:O00170]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96256
Acromegaly - cutis verticis gyrata - corneal leukoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=964
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264
LH resistance due to complete LH receptor inactivation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265
LH resistance due to partial LH receptor inactivation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96321
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=965
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96325
Rare otorhinolaryngological malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96333
Paternal uniparental disomy of chromosome 14
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96346
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=966
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97120
Sensorineural hearing loss - pontobulbar palsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229
Gene [OrphaNum:304678 ; Name:Solute carrier family 52, riboflavin transporter, member 2 ; Symbol:SLC52A2 ; xref: HGNC:30224 ; xref: GENATLAS:GPR172A ; xref: OMIM:607882 ; xref: UNIPROTKB/SWISSPROT:Q9HAB3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97231
Gene [OrphaNum:117886 ; Name:Plasminogen ; Symbol:PLG ; xref: GENATLAS:PLG ; xref: HGNC:9071 ; xref: OMIM:173350 ; xref: UNIPROTKB/SWISSPROT:P00747 ; xref: ENSEMBL:ENSG00000122194 ; xref: REACTOME:P00747]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97232
Myopathy due to phosphoglycerate mutase deficiency
Muscle phosphoglycerate mutase deficiency
Gene [OrphaNum:167879 ; Name:Phosphoglycerate mutase 2 (muscle) ; Symbol:PGAM2 ; xref: GENATLAS:PGAM2 ; xref: HGNC:8889 ; xref: UNIPROTKB/SWISSPROT:P15259 ; xref: OMIM:612931 ; xref: ENSEMBL:ENSG00000164708 ; xref: REACTOME:P15259]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234
Gene [OrphaNum:119194 ; Name:Caveolin 3 ; Symbol:CAV3 ; xref: GENATLAS:CAV3 ; xref: HGNC:1529 ; xref: OMIM:601253 ; xref: UNIPROTKB/SWISSPROT:P56539 ; xref: ENSEMBL:ENSG00000182533]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97242
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97245
Cerebellar atrophy with progressive microcephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249
Acromesomelic dysplasia, Hunter-Thomson type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968
Gene [OrphaNum:123897 ; Name:Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) ; Symbol:NPR2 ; xref: GENATLAS:NPR2 ; xref: HGNC:7944 ; xref: OMIM:108961 ; xref: UNIPROTKB/SWISSPROT:P20594 ; xref: ENSEMBL:ENSG00000159899]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40
Paraganglioma and gastric stromal sarcoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286
Gene [OrphaNum:118554 ; Name:Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ; Symbol:SDHB ; xref: GENATLAS:SDHB ; xref: HGNC:10681 ; xref: OMIM:185470 ; xref: UNIPROTKB/SWISSPROT:P21912 ; xref: ENSEMBL:ENSG00000117118 ; xref: REACTOME:P21912]
Gene [OrphaNum:118561 ; Name:Succinate dehydrogenase complex, subunit D, integral membrane protein ; Symbol:SDHD ; xref: GENATLAS:SDHD ; xref: HGNC:10683 ; xref: OMIM:602690 ; xref: UNIPROTKB/SWISSPROT:O14521 ; xref: ENSEMBL:ENSG00000204370 ; xref: REACTOME:O14521]
Papillary thyroid carcinoma with renal papillary neoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290
Gene [OrphaNum:281482 ; Name:Additional sex combs like 1 (Drosophila) ; Symbol:ASXL1 ; xref: ENSEMBL:ENSG00000171456 ; xref: HGNC:18318 ; xref: OMIM:612990 ; xref: GENATLAS:ASXL1 ; xref: UNIPROTKB/SWISSPROT:Q8IXJ9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97332
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337
Cranial dural arteriovenous malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340
Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
Gene [OrphaNum:218033 ; Name:Family with sequence similarity 134, member B ; Symbol:FAM134B ; xref: HGNC:25964 ; xref: GENATLAS:FAM134B ; xref: ENSEMBL:ENSG00000154153 ; xref: OMIM:613114 ; xref: UNIPROTKB/SWISSPROT:Q9H6L5]
Gene [OrphaNum:279771 ; Name:Kinesin family member 1A ; Symbol:KIF1A ; xref: ENSEMBL:ENSG00000130294 ; xref: HGNC:888 ; xref: OMIM:601255 ; xref: GENATLAS:KIF1A ; xref: UNIPROTKB/SWISSPROT:Q12756]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970
Gene [OrphaNum:122711 ; Name:Integral membrane protein 2B ; Symbol:ITM2B ; xref: GENATLAS:ITM2B ; xref: HGNC:6174 ; xref: OMIM:603904 ; xref: UNIPROTKB/SWISSPROT:Q9Y287 ; xref: REACTOME:Q9Y287 ; xref: ENSEMBL:ENSG00000136156]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971
Acral dysostosis with facial and genital abnormalities
mesomelic dwarfism-small genitalia syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362
Gene [OrphaNum:292175 ; Name:Bicaudal C homolog 1 (Drosophila) ; Symbol:BICC1 ; xref: OMIM:614295 ; xref: GENATLAS:BICC1 ; xref: UNIPROTKB/SWISSPROT:Q9H694 ; xref: HGNC:19351]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366
Renal tubular dysgenesis due to twin-twin transfusion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368
Hereditary continuous muscle fiber activity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972
Renal tubular dysgenesis of genetic origin
Gene [OrphaNum:138533 ; Name:Angiotensin II receptor, type 1 ; Symbol:AGTR1 ; xref: GENATLAS:AGTR1 ; xref: HGNC:336 ; xref: OMIM:106165 ; xref: UNIPROTKB/SWISSPROT:P30556 ; xref: IUPHAR:34 ; xref: ENSEMBL:ENSG00000144891 ; xref: REACTOME:P30556]
Gene [OrphaNum:138530 ; Name:Renin ; Symbol:REN ; xref: GENATLAS:REN ; xref: HGNC:9958 ; xref: OMIM:179820 ; xref: UNIPROTKB/SWISSPROT:P00797 ; xref: ENSEMBL:ENSG00000143839]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369
Gene [OrphaNum:117728 ; Name:Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ; Symbol:ACE ; xref: GENATLAS:ACE ; xref: HGNC:2707 ; xref: OMIM:106180 ; xref: UNIPROTKB/SWISSPROT:P12821 ; xref: ENSEMBL:ENSG00000159640]
Gene [OrphaNum:119535 ; Name:Angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ; Symbol:AGT ; xref: GENATLAS:AGT ; xref: HGNC:333 ; xref: OMIM:106150 ; xref: UNIPROTKB/SWISSPROT:P01019 ; xref: ENSEMBL:ENSG00000135744 ; xref: REACTOME:P01019]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548
Steroid-sensitive nephrotic syndrome without renal biopsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97552
Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97555
Congenital and infantile nephrotic syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97556
Chronic proteinuria with focal and segmental hyalinosis
Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97557
Idiopathic membranous glomerulonephritis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593
Neonatal membranous glomerulopathy with maternal NEP deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97668
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
Gene [OrphaNum:279606 ; Name:Dedicator of cytokinesis 6 ; Symbol:DOCK6 ; xref: REACTOME:Q96HP0 ; xref: ENSEMBL:ENSG00000130158 ; xref: HGNC:19189 ; xref: GENATLAS:DOCK6 ; xref: UNIPROTKB/SWISSPROT:Q96HP0 ; xref: OMIM:614194]
Gene [OrphaNum:267088 ; Name:Rho GTPase activating protein 31 ; Symbol:ARHGAP31 ; xref: HGNC:29216 ; xref: OMIM:610911 ; xref: GENATLAS:ARHGAP31 ; xref: ENSEMBL:ENSG00000031081 ; xref: REACTOME:Q2M1Z3 ; xref: UNIPROTKB/SWISSPROT:Q2M1Z3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Maternal uniparental disomy of chromosome 13
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97678
Neurofibromatosis type 1 microdeletion syndrome
Gene [OrphaNum:140074 ; Name:Ring finger protein 135 ; Symbol:RNF135 ; xref: GENATLAS:RNF135 ; xref: HGNC:21158 ; xref: OMIM:611358 ; xref: UNIPROTKB/SWISSPROT:Q8IUD6 ; xref: ENSEMBL:ENSG00000181481 ; xref: REACTOME:Q8IUD6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
Gene [OrphaNum:159228 ; Name:Suppressor of zeste 12 homolog (Drosophila) ; Symbol:SUZ12 ; xref: GENATLAS:SUZ12 ; xref: HGNC:17101 ; xref: OMIM:606245 ; xref: UNIPROTKB/SWISSPROT:Q15022 ; xref: ENSEMBL:ENSG00000178691]
Peripheral resistance to thyroid hormones
Gene [OrphaNum:292134 ; Name:Thyroid hormone receptor, alpha ; Symbol:THRA ; xref: HGNC:11796 ; xref: OMIM:190120 ; xref: GENATLAS:THRA ; xref: UNIPROTKB/SWISSPROT:P10827]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97927
Gene [OrphaNum:120101 ; Name:Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) ; Symbol:THRB ; xref: GENATLAS:THRB ; xref: HGNC:11799 ; xref: OMIM:190160 ; xref: UNIPROTKB/SWISSPROT:P10828 ; xref: IUPHAR:589 ; xref: REACTOME:P10828 ; xref: ENSEMBL:ENSG00000151090]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97944
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97945
Acro-Dermato-Ungual-Lacrimal-Tooth syndrome
Pigment anomaly - ectrodactyly - hypodontia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981
Malformative disorder of sex development
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97977
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349
Gene [OrphaNum:121963 ; Name:Fucosidase, alpha-L- 1, tissue ; Symbol:FUCA1 ; xref: GENATLAS:FUCA1 ; xref: HGNC:4006 ; xref: UNIPROTKB/SWISSPROT:P04066 ; xref: OMIM:612280 ; xref: ENSEMBL:ENSG00000179163]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Agnathia - holoprosencephaly - situs inversus
Gene [OrphaNum:270071 ; Name:paired related homeobox 1 ; Symbol:PRRX1 ; xref: ENSEMBL:ENSG00000116132 ; xref: HGNC:9142 ; xref: OMIM:167420 ; xref: UNIPROTKB/SWISSPROT:P54821 ; xref: GENATLAS:PRRX1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990
Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98054
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98056
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Gene [OrphaNum:201570 ; Name:SAM domain and HD domain 1 ; Symbol:SAMHD1 ; xref: ENSEMBL:ENSG00000101347 ; xref: GENATLAS:SAMHD1 ; xref: HGNC:15925 ; xref: OMIM:606754 ; xref: UNIPROTKB/SWISSPROT:Q9Y3Z3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51
Gene [OrphaNum:118340 ; Name:Ribonuclease H2, subunit C ; Symbol:RNASEH2C ; xref: GENATLAS:RNASEH2C ; xref: HGNC:24116 ; xref: OMIM:610330 ; xref: UNIPROTKB/SWISSPROT:Q8TDP1 ; xref: ENSEMBL:ENSG00000172922]
Gene [OrphaNum:118335 ; Name:Ribonuclease H2, subunit B ; Symbol:RNASEH2B ; xref: GENATLAS:RNASEH2B ; xref: HGNC:25671 ; xref: OMIM:610326 ; xref: UNIPROTKB/SWISSPROT:Q5TBB1 ; xref: ENSEMBL:ENSG00000136104]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:118329 ; Name:Ribonuclease H2, subunit A ; Symbol:RNASEH2A ; xref: GENATLAS:RNASEH2A ; xref: HGNC:18518 ; xref: OMIM:606034 ; xref: UNIPROTKB/SWISSPROT:O75792 ; xref: ENSEMBL:ENSG00000104889]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98074
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Arthrogryposis multiplex congenita - pulmonary hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994
Gene [OrphaNum:121152 ; Name:Docking protein 7 ; Symbol:DOK7 ; xref: GENATLAS:DOK7 ; xref: HGNC:26594 ; xref: OMIM:610285 ; xref: UNIPROTKB/SWISSPROT:Q18PE1 ; xref: ENSEMBL:ENSG00000175920]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085
Autosomal recessive congenital cerebellar ataxia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095
Autosomal recessive metabolic cerebellar ataxia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096
Autosomal recessive cerebellar ataxia due to a DNA repair defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097
Autosomal recessive degenerative and progressive cerebellar ataxia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098
Autosomal recessive syndromic cerebellar ataxia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099
Albright hereditary osteodystrophy-like syndrome
Gene [OrphaNum:238991 ; Name:Histone deacetylase 4 ; Symbol:HDAC4 ; xref: GENATLAS:HDAC4 ; xref: HGNC:14063 ; xref: ENSEMBL:ENSG00000068024 ; xref: REACTOME:P56524 ; xref: UNIPROTKB/SWISSPROT:P56524 ; xref: OMIM:605314]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98127
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98130
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98131
X-linked intellectual deficit - hypotonia
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- X-linked recessive;
Gene [OrphaNum:118746 ; Name:Solute carrier family 16, member 2 (monocarboxylic acid transporter 8) ; Symbol:SLC16A2 ; xref: GENATLAS:SLC16A2 ; xref: HGNC:10923 ; xref: OMIM:300095 ; xref: UNIPROTKB/SWISSPROT:P36021 ; xref: ENSEMBL:ENSG00000147100]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98132
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98141
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98142
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98152
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98153
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98154
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98155
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98156
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98157
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98158
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98159
Alopecia - contractures - dwarfism - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Alopecia - epilepsy - pyorrhea - intellectual deficit
Alopecia - epilepsy - pyorrhea - mental subnormality
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98196
Focal alopecia congenital megalencephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1009
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98203
Heredodegenerative disease with dystonia as a major feature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98204
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010
Alopecia - hypogonadism - extrapyramidal disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1011
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249
Alopecia - intellectual deficit - hypergonadotropic hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98257
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98258
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98259
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98260
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Gene [OrphaNum:119632 ; Name:Alstrom syndrome 1 ; Symbol:ALMS1 ; xref: GENATLAS:ALMS1 ; xref: HGNC:428 ; xref: OMIM:606844 ; xref: UNIPROTKB/SWISSPROT:Q8TCU4 ; xref: REACTOME:Q8TCU4 ; xref: ENSEMBL:ENSG00000116127]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98267
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021
Hypertrichosis universalis congenita, Ambras type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98305
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98307
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1027
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028
Constitutional anemia due to iron metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98360
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98362
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98364
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98365
Constitutional hemolytic anemia due to acanthocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98366
Rare constitutional hemolytic anemia due to an enzyme disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98369
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98370
Hemolytic anemia due to a disorder of glycolytic enzymes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98372
Amelogenesis imperfecta - nephrocalcinosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98374
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905
Gene [OrphaNum:118882 ; Name:ATPase, Cu++ transporting, beta polypeptide ; Symbol:ATP7B ; xref: ENSEMBL:ENSG00000123191 ; xref: REACTOME:P35670 ; xref: GENATLAS:ATP7B ; xref: HGNC:870 ; xref: OMIM:606882 ; xref: UNIPROTKB/SWISSPROT:P35670]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1034
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98396
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Gene [OrphaNum:159765 ; Name:Mercaptopyruvate sulfurtransferase ; Symbol:MPST ; xref: GENATLAS:MPST ; xref: HGNC:7223 ; xref: OMIM:602496 ; xref: UNIPROTKB/SWISSPROT:P25325 ; xref: ENSEMBL:ENSG00000128309]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035
Constitutional megaloblastic anemia due to folate metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98408
Vitamin B12- and folate-independent constitutional megaloblastic anemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98415
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98421
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98428
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary combined deficiency of factors II, VII, IX and X
Gene [OrphaNum:159472 ; Name:Vitamin K epoxide reductase complex, subunit 1 ; Symbol:VKORC1 ; xref: GENATLAS:VKORC1 ; xref: HGNC:23663 ; xref: OMIM:608547 ; xref: UNIPROTKB/SWISSPROT:Q9BQB6 ; xref: ENSEMBL:ENSG00000167397 ; xref: REACTOME:Q9BQB6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:208342 ; Name:Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) ; Symbol:MMP9 ; xref: ENSEMBL:ENSG00000100985 ; xref: REACTOME:P14780 ; xref: GENATLAS:MMP9 ; xref: HGNC:7176 ; xref: OMIM:120361 ; xref: UNIPROTKB/SWISSPROT:P14780]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98454
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98455
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98456
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98464
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98473
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98486
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052
Gene [OrphaNum:270019 ; Name:centrosomal protein 57kDa ; Symbol:CEP57 ; xref: ENSEMBL:ENSG00000166037 ; xref: REACTOME:Q86XR8 ; xref: OMIM:607951 ; xref: HGNC:30794 ; xref: GENATLAS:CEP57 ; xref: UNIPROTKB/SWISSPROT:Q86XR8]
Gene [OrphaNum:119101 ; Name:BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) ; Symbol:BUB1B ; xref: GENATLAS:BUB1B ; xref: HGNC:1149 ; xref: OMIM:602860 ; xref: UNIPROTKB/SWISSPROT:O60566 ; xref: ENSEMBL:ENSG00000156970 ; xref: REACTOME:O60566]
Genetic disease of neuromuscular junction
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98495
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98497
Vein of Galen arteriovenous malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98505
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98518
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523
Intracranial aneurysms - multiple congenital anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1057
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98538
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98539
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98540
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98543
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98544
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98549
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98553
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98554
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98557
Rare eye disease due to a differentiation anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98558
Rare palpebral, lacrimal system and conjunctival diseases
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98559
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98560
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98561
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98562
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98563
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98564
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98565
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98567
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98568
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98569
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98570
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98572
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98573
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98575
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98576
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98577
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98579
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98580
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98581
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98582
Aniridia - renal agenesis - psychomotor retardation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Pre-cancerous lesion of palpebral epidermis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98583
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98584
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98585
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98586
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98587
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98588
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98589
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98590
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98591
Palpebral tumor with a vascular malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98592
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98593
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98594
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98595
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98596
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98597
Congenital absence of the eyebrow/eyelashes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98598
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98599
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98600
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98601
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98602
Aniridia - ptosis - intellectual deficit - familial obesity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067
Secretory apparatus of the lacrimal system anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98603
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98604
Excretory apparatus of the lacrimal system anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98605
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606
Anomaly of the secretory and excretory apparatus of the lacrimal system
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98608
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98610
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98611
Conjunctival hemangioma or hemolymphangioma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98612
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98613
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98614
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98615
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98616
Bulbar conjunctival dermoid or conjunctival dermolipoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98617
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98618
Gene [OrphaNum:289488 ; Name:Leprecan-like 1 ; Symbol:LEPREL1 ; xref: ENSEMBL:ENSG00000090530 ; xref: HGNC:19317 ; xref: OMIM:610341 ; xref: UNIPROTKB/SWISSPROT:Q8IVL5 ; xref: GENATLAS:LEPREL1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98620
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98621
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98622
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98623
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98625
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98626
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98627
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98628
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98629
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98631
Glaucoma associated with neural crest cell migration anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98632
Ankyloblepharon - ectodermal defects - cleft lip/palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98633
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98635
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98636
Secondary glaucoma due to a proliferation and differentiation anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98637
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98638
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98639
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98640
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98641
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98642
Ankyloblepharon filiforme adnatum - cleft palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98643
Cataract associated with a metabolic disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98644
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98645
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98646
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98647
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98648
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98649
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98650
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98652
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98653
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98655
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98657
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98658
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98659
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98661
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98662
Ankyloblepharon filiforme - imperforate anus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98664
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98665
Unclassified primitive or secondary maculopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98666
Disease predisposing to age-related macular degeneration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98667
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98668
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98669
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98670
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98671
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672
Autosomal dominant optic atrophy, classic type
Autosomal dominant optic atrophy, Kjer type
Gene [OrphaNum:123996 ; Name:Optic atrophy 1 (autosomal dominant) ; Symbol:OPA1 ; xref: GENATLAS:OPA1 ; xref: HGNC:8140 ; xref: OMIM:605290 ; xref: UNIPROTKB/SWISSPROT:O60313 ; xref: ENSEMBL:ENSG00000198836]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98675
Autosomal recessive isolated optic atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676
Autosomal recessive syndromic optic atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98677
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98678
Rare strabismus and restriction syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98681
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98682
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98683
Craniostenosis associated with a strabismus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98684
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98685
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98686
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98687
Oculomotor apraxia or related oculomotor disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98688
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98689
Myasthenic syndrome with eye involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98690
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98691
Nervous system anomaly with eye involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98692
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077
Spinocerebellar ataxia with oculomotor anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98693
Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98694
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98695
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98696
Genetic keratinisation disorder associated with ocular features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98697
Ichthyosis associated with ocular features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98698
Syndromic ichthyosis associated with ocular features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98699
Pigmentation disorder with eye involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98700
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98701
Connective tissue disease with eye involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98702
Disease with potential neoplastic degeneration associated with ocular features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98703
Onycho-patellar syndrome with eye involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98704
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98706
Pigmentation disorder with eye involvement, excluding albinism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98708
Ectodermal malformation syndrome associated with ocular features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98709
Metabolic disease associated with ocular features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98710
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98711
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98712
Metabolic disease with pigmentary retinitis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98713
Metabolic disease with macular cherry-red spot
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98714
Noonan syndrome and Noonan-related syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Gene [OrphaNum:118913 ; Name:Ataxin 1 ; Symbol:ATXN1 ; xref: GENATLAS:ATXN1 ; xref: HGNC:10548 ; xref: OMIM:601556 ; xref: UNIPROTKB/SWISSPROT:P54253 ; xref: ENSEMBL:ENSG00000124788]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755
Gene [OrphaNum:118923 ; Name:Ataxin 2 ; Symbol:ATXN2 ; xref: ENSEMBL:ENSG00000204842 ; xref: GENATLAS:ATXN2 ; xref: HGNC:10555 ; xref: OMIM:601517 ; xref: UNIPROTKB/SWISSPROT:Q99700]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756
Autosomal dominant striatonigral degeneration
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758
Gene [OrphaNum:119948 ; Name:TATA box binding protein ; Symbol:TBP ; xref: GENATLAS:TBP ; xref: HGNC:11588 ; xref: OMIM:600075 ; xref: UNIPROTKB/SWISSPROT:P20226 ; xref: ENSEMBL:ENSG00000112592 ; xref: REACTOME:P20226]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759
Gene [OrphaNum:158384 ; Name:Ataxin 8 opposite strand ; Symbol:ATXN8OS ; xref: GENATLAS:ATXN8OS ; xref: HGNC:10561 ; xref: OMIM:603680 ; xref: ENSEMBL:ENSG00000230223]
Gene [OrphaNum:118939 ; Name:Ataxin 8 ; Symbol:ATXN8 ; xref: OMIM:613289 ; xref: GENATLAS:ATXN8 ; xref: HGNC:32925 ; xref: UNIPROTKB/SWISSPROT:Q156A1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761
Gene [OrphaNum:118918 ; Name:Ataxin 10 ; Symbol:ATXN10 ; xref: GENATLAS:ATXN10 ; xref: HGNC:10549 ; xref: OMIM:611150 ; xref: UNIPROTKB/SWISSPROT:Q9UBB4 ; xref: ENSEMBL:ENSG00000130638]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762
Gene [OrphaNum:117973 ; Name:Protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform ; Symbol:PPP2R2B ; xref: GENATLAS:PPP2R2B ; xref: HGNC:9305 ; xref: OMIM:604325 ; xref: UNIPROTKB/SWISSPROT:Q00005 ; xref: ENSEMBL:ENSG00000156475]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1092
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763
Gene [OrphaNum:118014 ; Name:Protein kinase C, gamma ; Symbol:PRKCG ; xref: GENATLAS:PRKCG ; xref: HGNC:9402 ; xref: OMIM:176980 ; xref: UNIPROTKB/SWISSPROT:P05129 ; xref: ENSEMBL:ENSG00000126583 ; xref: REACTOME:P05129]
prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant;
Gene [OrphaNum:121796 ; Name:Fibroblast growth factor 14 ; Symbol:FGF14 ; xref: GENATLAS:FGF14 ; xref: HGNC:3671 ; xref: OMIM:601515 ; xref: UNIPROTKB/SWISSPROT:Q92915 ; xref: ENSEMBL:ENSG00000102466]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765
Gene [OrphaNum:117882 ; Name:Pleckstrin homology domain containing, family G (with RhoGef domain) member 4 ; Symbol:PLEKHG4 ; xref: GENATLAS:PLEKHG4 ; xref: HGNC:24501 ; xref: OMIM:609526 ; xref: UNIPROTKB/SWISSPROT:Q58EX7 ; xref: ENSEMBL:ENSG00000196155]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766
Gene [OrphaNum:119851 ; Name:Spectrin, beta, non-erythrocytic 2 ; Symbol:SPTBN2 ; xref: GENATLAS:SPTBN2 ; xref: HGNC:11276 ; xref: OMIM:604985 ; xref: UNIPROTKB/SWISSPROT:O15020 ; xref: ENSEMBL:ENSG00000173898 ; xref: REACTOME:O15020]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767
Gene [OrphaNum:159341 ; Name:Tau tubulin kinase 2 ; Symbol:TTBK2 ; xref: GENATLAS:TTBK2 ; xref: HGNC:19141 ; xref: UNIPROTKB/SWISSPROT:Q6IQ55 ; xref: OMIM:611695 ; xref: ENSEMBL:ENSG00000128881]
Gene [OrphaNum:159737 ; Name:Potassium voltage-gated channel, Shaw-related subfamily, member 3 ; Symbol:KCNC3 ; xref: GENATLAS:KCNC3 ; xref: OMIM:176264 ; xref: HGNC:6235 ; xref: UNIPROTKB/SWISSPROT:Q14003 ; xref: IUPHAR:550 ; xref: ENSEMBL:ENSG00000131398 ; xref: REACTOME:Q14003]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769
Gene [OrphaNum:159904 ; Name:Inositol 1,4,5-triphosphate receptor, type 1 ; Symbol:ITPR1 ; xref: GENATLAS:ITPR1 ; xref: HGNC:6180 ; xref: OMIM:147265 ; xref: UNIPROTKB/SWISSPROT:Q14643 ; xref: ENSEMBL:ENSG00000150995 ; xref: REACTOME:Q14643]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98770
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771
Gene [OrphaNum:201522 ; Name:Interferon-related developmental regulator 1 ; Symbol:IFRD1 ; xref: ENSEMBL:ENSG00000006652 ; xref: GENATLAS:IFRD1 ; xref: HGNC:5456 ; xref: OMIM:603502 ; xref: UNIPROTKB/SWISSPROT:O00458]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772
Gene [OrphaNum:212584 ; Name:Spinocerebellar ataxia 19 ; Symbol:SCA19 ; xref: OMIM:607346 ; xref: HGNC:17033]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773
Gene [OrphaNum:212587 ; Name:Spinocerebellar ataxia 21 ; Symbol:SCA21 ; xref: OMIM:607454 ; xref: HGNC:17172]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094
Autosomal dominant nocturnal frontal lobe epilepsy
Gene [OrphaNum:119414 ; Name:Cholinergic receptor, nicotinic, alpha 4 ; Symbol:CHRNA4 ; xref: GENATLAS:CHRNA4 ; xref: HGNC:1958 ; xref: OMIM:118504 ; xref: UNIPROTKB/SWISSPROT:P43681 ; xref: IUPHAR:465 ; xref: ENSEMBL:ENSG00000101204 ; xref: REACTOME:P43681]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784
Gene [OrphaNum:165966 ; Name:Cholinergic receptor, nicotinic, beta 2 (neuronal) ; Symbol:CHRNB2 ; xref: GENATLAS:CHRNB2 ; xref: HGNC:1962 ; xref: OMIM:118507 ; xref: UNIPROTKB/SWISSPROT:P17787 ; xref: IUPHAR:472 ; xref: ENSEMBL:ENSG00000160716 ; xref: REACTOME:P17787]
Gene [OrphaNum:159345 ; Name:Cholinergic receptor, nicotinic, alpha 2 (neuronal) ; Symbol:CHRNA2 ; xref: IUPHAR:463 ; xref: ENSEMBL:ENSG00000120903 ; xref: REACTOME:Q15822 ; xref: GENATLAS:CHRNA2 ; xref: HGNC:1956 ; xref: OMIM:118502 ; xref: UNIPROTKB/SWISSPROT:Q15822]
Alpha thalassemia - intellectual deficit syndrome
Alpha thalassemia - retardation syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791
Prader-Willi syndrome due to paternal 15q11q13 deletion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794
Gene [OrphaNum:120365 ; Name:Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) ; Symbol:UBE3A ; xref: ENSEMBL:ENSG00000114062 ; xref: REACTOME:Q05086 ; xref: GENATLAS:UBE3A ; xref: HGNC:12496 ; xref: OMIM:601623 ; xref: UNIPROTKB/SWISSPROT:Q05086]
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98797
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98798
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805
Idiopathic torsion dystonia of mixed type
Gene [OrphaNum:178822 ; Name:THAP domain containing, apoptosis associated protein 1 ; Symbol:THAP1 ; xref: HGNC:20856 ; xref: OMIM:609520 ; xref: GENATLAS:THAP1 ; xref: UNIPROTKB/SWISSPROT:Q9NVV9 ; xref: ENSEMBL:ENSG00000131931]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806
Primary torsion dystonia with predominant craniocervical or upper limb onset
Gene [OrphaNum:160001 ; Name:Dystonia 13, torsion gene ; Symbol:DYT13 ; xref: HGNC:3101 ; xref: OMIM:607671]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807
Autosomal dominant dopa-responsive dystonia
Hereditary progressive dystonia with marked diurnal fluctuation
Gene [OrphaNum:122048 ; Name:GTP cyclohydrolase 1 (dopa-responsive dystonia) ; Symbol:GCH1 ; xref: GENATLAS:GCH1 ; xref: HGNC:4193 ; xref: OMIM:600225 ; xref: UNIPROTKB/SWISSPROT:P30793 ; xref: ENSEMBL:ENSG00000131979 ; xref: REACTOME:P30793]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808
Gene [OrphaNum:291703 ; Name:Proline-rich transmembrane protein 2 ; Symbol:PRRT2 ; xref: HGNC:30500 ; xref: GENATLAS:PRRT2 ; xref: ENSEMBL:ENSG00000167371 ; xref: UNIPROTKB/SWISSPROT:Q7Z6L0 ; xref: OMIM:614386]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809
Gene [OrphaNum:159984 ; Name:Paroxysmal nonkinesigenic dyskinesia ; Symbol:PNKD ; xref: GENATLAS:PNKD ; xref: HGNC:9153 ; xref: OMIM:609023 ; xref: UNIPROTKB/SWISSPROT:Q8N490 ; xref: ENSEMBL:ENSG00000127838]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98812
Hypohidrotic ectodermal dysplasia with immunodeficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813
Benign childhood occipital epilepsy, Panayiotopoulos type
Early onset benign childhood occipital epilepsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815
Benign childhood occipital epilepsy, Gastaut type
Late onset benign childhood occipital epilepsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819
Familial partial epilepsy with variable focus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104
Gene [OrphaNum:209271 ; Name:Spectrin repeat containing, nuclear envelope 2 ; Symbol:SYNE2 ; xref: ENSEMBL:ENSG00000054654 ; xref: GENATLAS:SYNE2 ; xref: HGNC:17084 ; xref: OMIM:608442 ; xref: UNIPROTKB/SWISSPROT:Q8WXH0 ; xref: REACTOME:Q8WXH0]
Gene [OrphaNum:159517 ; Name:Transmembrane protein 43 ; Symbol:TMEM43 ; xref: GENATLAS:TMEM43 ; xref: HGNC:28472 ; xref: OMIM:612048 ; xref: UNIPROTKB/SWISSPROT:Q9BTV4 ; xref: ENSEMBL:ENSG00000170876]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856
Primary ciliary dyskinesia, Kartagener type
Dextrocardia - bronchiectasis - sinusitis
Immotile cilia syndrome, Kartagener type
Gene [OrphaNum:169908 ; Name:Dynein, axonemal, intermediate chain 2 ; Symbol:DNAI2 ; xref: GENATLAS:DNAI2 ; xref: HGNC:18744 ; xref: OMIM:605483 ; xref: UNIPROTKB/SWISSPROT:Q9GZS0 ; xref: ENSEMBL:ENSG00000171595]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98861
Gene [OrphaNum:121143 ; Name:Dynein, axonemal, intermediate chain 1 ; Symbol:DNAI1 ; xref: GENATLAS:DNAI1 ; xref: HGNC:2954 ; xref: OMIM:604366 ; xref: UNIPROTKB/SWISSPROT:Q9UI46 ; xref: ENSEMBL:ENSG00000122735]
Gene [OrphaNum:121134 ; Name:Dynein, axonemal, heavy chain 11 ; Symbol:DNAH11 ; xref: GENATLAS:DNAH11 ; xref: HGNC:2942 ; xref: OMIM:603339 ; xref: UNIPROTKB/SWISSPROT:Q96DT5 ; xref: ENSEMBL:ENSG00000105877]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106
Gene [OrphaNum:258631 ; Name:SPARC related modular calcium binding 1 ; Symbol:SMOC1 ; xref: ENSEMBL:ENSG00000198732 ; xref: OMIM:608488 ; xref: HGNC:20318 ; xref: GENATLAS:SMOC1 ; xref: UNIPROTKB/SWISSPROT:Q9H4F8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863
Gene [OrphaNum:121526 ; Name:Emerin (Emery-Dreifuss muscular dystrophy) ; Symbol:EMD ; xref: GENATLAS:EMD ; xref: HGNC:3331 ; xref: OMIM:300384 ; xref: UNIPROTKB/SWISSPROT:P50402 ; xref: ENSEMBL:ENSG00000102119]
Gene [OrphaNum:119846 ; Name:Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) ; Symbol:SPTA1 ; xref: GENATLAS:SPTA1 ; xref: HGNC:11272 ; xref: OMIM:182860 ; xref: UNIPROTKB/SWISSPROT:P02549 ; xref: ENSEMBL:ENSG00000163554 ; xref: REACTOME:P02549]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98864
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98865
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98866
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98867
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868
Congenital dyserythropoietic anemia type 1
Gene [OrphaNum:119266 ; Name:Congenital dyserythropoietic anemia, type I ; Symbol:CDAN1 ; xref: GENATLAS:CDAN1 ; xref: HGNC:1713 ; xref: OMIM:607465 ; xref: UNIPROTKB/SWISSPROT:Q8IWY9 ; xref: ENSEMBL:ENSG00000140326]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869
Congenital dyserythropoietic anemia type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870
Gene [OrphaNum:140554 ; Name:Congenital dyserythropoietic anemia, type III gene ; Symbol:CDAN3 ; xref: GENATLAS:CDAN3 ; xref: HGNC:1715 ; xref: OMIM:105600]
Transient erythroblastopenia of childhood
Transient acquired pure red cell aplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872
Congenital dyserythropoietic anemia type 2
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873
Gene [OrphaNum:205932 ; Name:Sec23 homolog B (S. cerevisiae) ; Symbol:SEC23B ; xref: ENSEMBL:ENSG00000101310 ; xref: GENATLAS:SEC23B ; xref: HGNC:10702 ; xref: OMIM:610512 ; xref: UNIPROTKB/SWISSPROT:Q15437]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive;
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879
Gene [OrphaNum:121821 ; Name:Fibrinogen gamma chain ; Symbol:FGG ; xref: GENATLAS:FGG ; xref: HGNC:3694 ; xref: OMIM:134850 ; xref: UNIPROTKB/SWISSPROT:P02679 ; xref: ENSEMBL:ENSG00000171557 ; xref: REACTOME:P02679]
Gene [OrphaNum:121788 ; Name:Fibrinogen beta chain ; Symbol:FGB ; xref: GENATLAS:FGB ; xref: HGNC:3662 ; xref: OMIM:134830 ; xref: UNIPROTKB/SWISSPROT:P02675 ; xref: ENSEMBL:ENSG00000171564 ; xref: REACTOME:P02675]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881
Gene [OrphaNum:119771 ; Name:Small nuclear ribonucleoprotein polypeptide N ; Symbol:SNRPN ; xref: GENATLAS:SNRPN ; xref: HGNC:11164 ; xref: OMIM:182279 ; xref: UNIPROTKB/SWISSPROT:P63162 ; xref: ENSEMBL:ENSG00000128739]
Gene [OrphaNum:159915 ; Name:Small nucleolar RNA, C/D box 115 cluster ; Symbol:SNORD115@ ; xref: GENATLAS:SNORD115
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739
Gene [OrphaNum:123710 ; Name:Necdin homolog (mouse) ; Symbol:NDN ; xref: GENATLAS:NDN ; xref: HGNC:7675 ; xref: OMIM:602117 ; xref: UNIPROTKB/SWISSPROT:Q99608 ; xref: ENSEMBL:ENSG00000182636]
Gene [OrphaNum:159122 ; Name:Small nucleolar RNA, C/D box 116 cluster ; Symbol:SNORD116@ ; xref: GENATLAS:SNORD116
Gene [OrphaNum:159559 ; Name:Small nucleolar RNA, C/D box 11 ; Symbol:SNORD11 ; xref: GENATLAS:SNORD11 ; xref: HGNC:32707 ; xref: ENSEMBL:ENSG00000238317]
Gene [OrphaNum:123324 ; Name:MAGE-like 2 ; Symbol:MAGEL2 ; xref: GENATLAS:MAGEL2 ; xref: HGNC:6814 ; xref: OMIM:605283 ; xref: UNIPROTKB/SWISSPROT:Q9UJ55 ; xref: ENSEMBL:ENSG00000254585]
Bleeding diathesis due to glycoprotein VI deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885
Gene [OrphaNum:225404 ; Name:Glycoprotein VI (platelet) ; Symbol:GP6 ; xref: REACTOME:Q9HCN6 ; xref: ENSEMBL:ENSG00000088053 ; xref: GENATLAS:GP6 ; xref: HGNC:14388 ; xref: OMIM:605546 ; xref: UNIPROTKB/SWISSPROT:Q9HCN6]
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98886
Complex X-linked hereditary spastic paraplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98888
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889
Gene [OrphaNum:119862 ; Name:Sushi-repeat-containing protein, X-linked 2 ; Symbol:SRPX2 ; xref: GENATLAS:SRPX2 ; xref: HGNC:30668 ; xref: OMIM:300642 ; xref: UNIPROTKB/SWISSPROT:O60687 ; xref: ENSEMBL:ENSG00000102359]
Non-Leber type optic atrophy with early-onset
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892
Gene [OrphaNum:121412 ; Name:ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ; Symbol:ARFGEF2 ; xref: GENATLAS:ARFGEF2 ; xref: HGNC:15853 ; xref: OMIM:605371 ; xref: UNIPROTKB/SWISSPROT:Q9Y6D5 ; xref: ENSEMBL:ENSG00000124198 ; xref: REACTOME:Q9Y6D5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98893
Gene [OrphaNum:122992 ; Name:Like-glycosyltransferase ; Symbol:LARGE ; xref: GENATLAS:LARGE ; xref: HGNC:6511 ; xref: OMIM:603590 ; xref: UNIPROTKB/SWISSPROT:O95461 ; xref: ENSEMBL:ENSG00000133424]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98894
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895
Gene [OrphaNum:121117 ; Name:Dystrophin (muscular dystrophy, Duchenne and Becker types) ; Symbol:DMD ; xref: GENATLAS:DMD ; xref: HGNC:2928 ; xref: OMIM:300377 ; xref: UNIPROTKB/SWISSPROT:P11532 ; xref: ENSEMBL:ENSG00000198947 ; xref: REACTOME:P11532]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897
Gene [OrphaNum:120188 ; Name:Troponin T type 1 (skeletal, slow) ; Symbol:TNNT1 ; xref: GENATLAS:TNNT1 ; xref: HGNC:11948 ; xref: OMIM:191041 ; xref: UNIPROTKB/SWISSPROT:P13805 ; xref: REACTOME:P13805 ; xref: ENSEMBL:ENSG00000105048]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902
Aortic arch anomaly - peculiar facies - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110
Congenital myopathy with excess of thin filaments
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904
Congenital multicore myopathy with external ophthalmoplegia
Gene [OrphaNum:118437 ; Name:Ryanodine receptor 1 (skeletal) ; Symbol:RYR1 ; xref: UNIPROTKB/SWISSPROT:P21817 ; xref: GENATLAS:RYR1 ; xref: HGNC:10483 ; xref: OMIM:180901 ; xref: ENSEMBL:ENSG00000196218]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905
Neutral lipid storage disease with ichthyosis
Gene [OrphaNum:117687 ; Name:Abhydrolase domain containing 5 ; Symbol:ABHD5 ; xref: GENATLAS:ABHD5 ; xref: HGNC:21396 ; xref: OMIM:604780 ; xref: UNIPROTKB/SWISSPROT:Q8WTS1 ; xref: ENSEMBL:ENSG00000011198 ; xref: REACTOME:Q8WTS1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907
Neutral lipid storage disease with myopathy without ichthyosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908
Gene [OrphaNum:138475 ; Name:Patatin-like phospholipase domain containing 2 ; Symbol:PNPLA2 ; xref: GENATLAS:PNPLA2 ; xref: HGNC:30802 ; xref: UNIPROTKB/SWISSPROT:Q96AD5 ; xref: OMIM:609059 ; xref: ENSEMBL:ENSG00000177666]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909
Gene [OrphaNum:120832 ; Name:Crystallin, alpha B ; Symbol:CRYAB ; xref: GENATLAS:CRYAB ; xref: HGNC:2389 ; xref: OMIM:123590 ; xref: UNIPROTKB/SWISSPROT:P02511 ; xref: ENSEMBL:ENSG00000109846]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98910
Myotilin-related myofibrillar myopathy without spheroid body
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911
Gene [OrphaNum:123664 ; Name:Myotilin ; Symbol:MYOT ; xref: GENATLAS:MYOT ; xref: HGNC:12399 ; xref: OMIM:604103 ; xref: UNIPROTKB/SWISSPROT:Q9UBF9 ; xref: ENSEMBL:ENSG00000120729]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912
Postsynaptic congenital myasthenic syndromes
Gene [OrphaNum:233062 ; Name:Agrin ; Symbol:AGRN ; xref: REACTOME:O00468 ; xref: ENSEMBL:ENSG00000188157 ; xref: GENATLAS:AGRN ; xref: HGNC:329 ; xref: UNIPROTKB/SWISSPROT:O00468 ; xref: OMIM:103320]
Gene [OrphaNum:160311 ; Name:Muscle, skeletal, receptor tyrosine kinase ; Symbol:MUSK ; xref: GENATLAS:MUSK ; xref: HGNC:7525 ; xref: OMIM:601296 ; xref: UNIPROTKB/SWISSPROT:O15146 ; xref: ENSEMBL:ENSG00000030304]
Gene [OrphaNum:119419 ; Name:Cholinergic receptor, nicotinic, beta 1 (muscle) ; Symbol:CHRNB1 ; xref: HGNC:1961 ; xref: OMIM:100710 ; xref: UNIPROTKB/SWISSPROT:P11230 ; xref: GENATLAS:CHRNB1 ; xref: ENSEMBL:ENSG00000170175 ; xref: IUPHAR:471]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913
Gene [OrphaNum:118507 ; Name:Sodium channel, voltage-gated, type IV, alpha subunit ; Symbol:SCN4A ; xref: ENSEMBL:ENSG00000007314 ; xref: REACTOME:P35499 ; xref: IUPHAR:581 ; xref: GENATLAS:SCN4A ; xref: HGNC:10591 ; xref: OMIM:603967 ; xref: UNIPROTKB/SWISSPROT:P35499]
Gene [OrphaNum:119425 ; Name:Cholinergic receptor, nicotinic, epsilon ; Symbol:CHRNE ; xref: GENATLAS:CHRNE ; xref: HGNC:1966 ; xref: OMIM:100725 ; xref: UNIPROTKB/SWISSPROT:Q04844 ; xref: IUPHAR:477 ; xref: ENSEMBL:ENSG00000108556 ; xref: REACTOME:Q04844]
Presynaptic congenital myasthenic syndromes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914
Gene [OrphaNum:119387 ; Name:Choline acetyltransferase ; Symbol:CHAT ; xref: GENATLAS:CHAT ; xref: HGNC:1912 ; xref: OMIM:118490 ; xref: UNIPROTKB/SWISSPROT:P28329 ; xref: ENSEMBL:ENSG00000070748 ; xref: REACTOME:P28329]
Synaptic congenital myasthenic syndromes
Gene [OrphaNum:122971 ; Name:Laminin, beta 2 (laminin S) ; Symbol:LAMB2 ; xref: GENATLAS:LAMB2 ; xref: HGNC:6487 ; xref: OMIM:150325 ; xref: UNIPROTKB/SWISSPROT:P55268 ; xref: REACTOME:P55268 ; xref: ENSEMBL:ENSG00000172037]
Gene [OrphaNum:120761 ; Name:Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase ; Symbol:COLQ ; xref: GENATLAS:COLQ ; xref: HGNC:2226 ; xref: OMIM:603033 ; xref: UNIPROTKB/SWISSPROT:Q9Y215 ; xref: ENSEMBL:ENSG00000206561]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915
Spinal muscular atrophy with respiratory distress
Autosomal recessive distal spinal muscular atrophy type 1
Distal hereditary motor neuropathy type 6
Severe infantile axonal neuropathy with respiratory failure
Gene [OrphaNum:122593 ; Name:Immunoglobulin mu binding protein 2 ; Symbol:IGHMBP2 ; xref: GENATLAS:IGHMBP2 ; xref: HGNC:5542 ; xref: OMIM:600502 ; xref: UNIPROTKB/SWISSPROT:P38935 ; xref: ENSEMBL:ENSG00000132740]
Gene [OrphaNum:292098 ; Name:Multiple EGF-like-domains 10 ; Symbol:MEGF10 ; xref: HGNC:29634 ; xref: OMIM:612453 ; xref: GENATLAS:MEGF10 ; xref: UNIPROTKB/SWISSPROT:Q96KG7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112
Multiple system atrophy - urinary dysfunction
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98932
prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113
Multiple system atrophy, parkinsonian type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934
Gene [OrphaNum:122737 ; Name:Junctophilin 3 ; Symbol:JPH3 ; xref: GENATLAS:JPH3 ; xref: HGNC:14203 ; xref: OMIM:605268 ; xref: UNIPROTKB/SWISSPROT:Q8WXH2 ; xref: ENSEMBL:ENSG00000154118]
Gene [OrphaNum:138526 ; Name:Stimulated by retinoic acid gene 6 homolog (mouse) ; Symbol:STRA6 ; xref: GENATLAS:STRA6 ; xref: HGNC:30650 ; xref: OMIM:610745 ; xref: UNIPROTKB/SWISSPROT:Q9BX79 ; xref: ENSEMBL:ENSG00000137868]
Gene [OrphaNum:250181 ; Name:Growth differentiation factor 3 ; Symbol:GDF3 ; xref: ENSEMBL:ENSG00000184344 ; xref: GENATLAS:GDF3 ; xref: HGNC:4218 ; xref: UNIPROTKB/SWISSPROT:Q9NR23 ; xref: OMIM:606522]
Gene [OrphaNum:291794 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 6 ; Symbol:ABCB6 ; xref: HGNC:47 ; xref: OMIM:605452 ; xref: GENATLAS:ABCB6 ; xref: UNIPROTKB/SWISSPROT:Q9NP58 ; xref: ENSEMBL:ENSG00000115657]
Gene [OrphaNum:209481 ; Name:Growth differentiation factor 6 ; Symbol:GDF6 ; xref: ENSEMBL:ENSG00000156466 ; xref: GENATLAS:GDF6 ; xref: HGNC:4221 ; xref: OMIM:601147 ; xref: UNIPROTKB/SWISSPROT:Q6KF10]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938
Gene [OrphaNum:159362 ; Name:Visual system homeobox 2 ; Symbol:VSX2 ; xref: GENATLAS:VSX2 ; xref: HGNC:1975 ; xref: OMIM:142993 ; xref: UNIPROTKB/SWISSPROT:P58304 ; xref: ENSEMBL:ENSG00000119614]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98941
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942
Recessive aplasia cutis congenita of limbs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1115
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951
Aplasia cutis congenita - intestinal lymphangiectasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116
Juvenile hereditary epithelial dystrophy of Meesmann
Gene [OrphaNum:122911 ; Name:Keratin 3 ; Symbol:KRT3 ; xref: GENATLAS:KRT3 ; xref: HGNC:6440 ; xref: OMIM:148043 ; xref: UNIPROTKB/SWISSPROT:P12035 ; xref: ENSEMBL:ENSG00000186442]
Gene [OrphaNum:122894 ; Name:Keratin 12 (Meesmann corneal dystrophy) ; Symbol:KRT12 ; xref: GENATLAS:KRT12 ; xref: HGNC:6414 ; xref: OMIM:601687 ; xref: UNIPROTKB/SWISSPROT:Q99456 ; xref: ENSEMBL:ENSG00000187242]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954
Band-shaped and whorled microcystic dystrophy of the corneal epithelium
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98955
Gene [OrphaNum:120056 ; Name:Transforming growth factor, beta-induced, 68kDa ; Symbol:TGFBI ; xref: GENATLAS:TGFBI ; xref: HGNC:11771 ; xref: OMIM:601692 ; xref: UNIPROTKB/SWISSPROT:Q15582 ; xref: ENSEMBL:ENSG00000120708 ; xref: REACTOME:Q15582]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98956
Primary familial amyloidosis of the cornea
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957
Gene [OrphaNum:119910 ; Name:Tumor-associated calcium signal transducer 2 ; Symbol:TACSTD2 ; xref: GENATLAS:TACSTD2 ; xref: HGNC:11530 ; xref: OMIM:137290 ; xref: UNIPROTKB/SWISSPROT:P09758 ; xref: ENSEMBL:ENSG00000184292]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98958
Subepithelial mucinous corneal dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98959
Anterior limiting membrane dystrophy type II
Corneal dystrophy of Bowman layer type II
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960
Anterior limiting membrane dystrophy type I
Corneal dystrophy of Bowman layer type I
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98965
Hereditary crystalline stromal dystrophy of Schnyder
Schnyder crystalline dystrophy sine crystals
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967
Gene [OrphaNum:159547 ; Name:UbiA prenyltransferase domain containing 1 ; Symbol:UBIAD1 ; xref: GENATLAS:UBIAD1 ; xref: HGNC:30791 ; xref: OMIM:611632 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Z9 ; xref: ENSEMBL:ENSG00000120942]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98968
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969
Gene [OrphaNum:119435 ; Name:Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 ; Symbol:CHST6 ; xref: GENATLAS:CHST6 ; xref: HGNC:6938 ; xref: OMIM:605294 ; xref: UNIPROTKB/SWISSPROT:Q9GZX3 ; xref: ENSEMBL:ENSG00000183196]
François-Neetens speckled corneal dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970
Gene [OrphaNum:117825 ; Name:Phosphoinositide kinase, FYVE finger containing ; Symbol:PIKFYVE ; xref: GENATLAS:PIP5K3 ; xref: HGNC:23785 ; xref: OMIM:609414 ; xref: UNIPROTKB/SWISSPROT:Q9Y2I7 ; xref: ENSEMBL:ENSG00000115020]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98971
Central cloudy corneal dystrophy of Francois
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98972
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118
Posterior polymorphous corneal dystrophy
Gene [OrphaNum:120743 ; Name:Collagen, type VIII, alpha 2 ; Symbol:COL8A2 ; xref: GENATLAS:COL8A2 ; xref: HGNC:2216 ; xref: OMIM:120252 ; xref: UNIPROTKB/SWISSPROT:P25067 ; xref: ENSEMBL:ENSG00000171812]
Gene [OrphaNum:120483 ; Name:Visual system homeobox 1 ; Symbol:VSX1 ; xref: GENATLAS:VSX1 ; xref: HGNC:12723 ; xref: OMIM:605020 ; xref: UNIPROTKB/SWISSPROT:Q9NZR4 ; xref: ENSEMBL:ENSG00000100987]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973
Gene [OrphaNum:120584 ; Name:Zinc finger E-box binding homeobox 1 ; Symbol:ZEB1 ; xref: GENATLAS:ZEB1 ; xref: HGNC:11642 ; xref: OMIM:189909 ; xref: UNIPROTKB/SWISSPROT:P37275 ; xref: ENSEMBL:ENSG00000148516]
Gene [OrphaNum:119680 ; Name:Solute carrier family 4, sodium bicarbonate transporter-like, member 11 ; Symbol:SLC4A11 ; xref: GENATLAS:SLC4A11 ; xref: HGNC:16438 ; xref: OMIM:610206 ; xref: UNIPROTKB/SWISSPROT:Q8NBS3 ; xref: ENSEMBL:ENSG00000088836]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Congenital hereditary endothelial dystrophy I
Autosomal dominant congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98975
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976
Gene [OrphaNum:189348 ; Name:Latent transforming growth factor beta binding protein 2 ; Symbol:LTBP2 ; xref: ENSEMBL:ENSG00000119681 ; xref: GENATLAS:LTBP2 ; xref: HGNC:6715 ; xref: OMIM:602091 ; xref: UNIPROTKB/SWISSPROT:Q14767]
Gene [OrphaNum:123659 ; Name:Myocilin, trabecular meshwork inducible glucocorticoid response ; Symbol:MYOC ; xref: GENATLAS:MYOC ; xref: HGNC:7610 ; xref: OMIM:601652 ; xref: UNIPROTKB/SWISSPROT:Q99972 ; xref: ENSEMBL:ENSG00000034971]
Gene [OrphaNum:120977 ; Name:Cytochrome P450, family 1, subfamily B, polypeptide 1 ; Symbol:CYP1B1 ; xref: GENATLAS:CYP1B1 ; xref: HGNC:2597 ; xref: OMIM:601771 ; xref: UNIPROTKB/SWISSPROT:Q16678 ; xref: ENSEMBL:ENSG00000138061 ; xref: REACTOME:Q16678]
Gene [OrphaNum:124021 ; Name:Optineurin ; Symbol:OPTN ; xref: GENATLAS:OPTN ; xref: HGNC:17142 ; xref: OMIM:602432 ; xref: UNIPROTKB/SWISSPROT:Q96CV9 ; xref: ENSEMBL:ENSG00000123240]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365
Gene [OrphaNum:121987 ; Name:Glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) ; Symbol:GAA ; xref: ENSEMBL:ENSG00000171298 ; xref: GENATLAS:GAA ; xref: HGNC:4065 ; xref: OMIM:606800 ; xref: UNIPROTKB/SWISSPROT:P10253]
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Lung agenesis - heart defect - thumb anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98983
Gene [OrphaNum:123359 ; Name:Crystallin, beta B1 ; Symbol:CRYBB1 ; xref: GENATLAS:CRYBB1 ; xref: HGNC:2397 ; xref: OMIM:600929 ; xref: UNIPROTKB/SWISSPROT:P53674 ; xref: ENSEMBL:ENSG00000100122]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984
Gene [OrphaNum:159976 ; Name:Lens intrinsic membrane protein 2, 19kDa ; Symbol:LIM2 ; xref: GENATLAS:LIM2 ; xref: HGNC:6610 ; xref: OMIM:154045 ; xref: UNIPROTKB/SWISSPROT:P55344 ; xref: ENSEMBL:ENSG00000105370]
Gene [OrphaNum:122114 ; Name:Gap junction protein, alpha 3, 46kDa ; Symbol:GJA3 ; xref: GENATLAS:GJA3 ; xref: HGNC:4277 ; xref: OMIM:121015 ; xref: UNIPROTKB/SWISSPROT:Q9Y6H8 ; xref: ENSEMBL:ENSG00000121743 ; xref: REACTOME:Q9Y6H8]
Gene [OrphaNum:122118 ; Name:Gap junction protein, alpha 8, 50kDa ; Symbol:GJA8 ; xref: GENATLAS:GJA8 ; xref: HGNC:4281 ; xref: OMIM:600897 ; xref: UNIPROTKB/SWISSPROT:P48165 ; xref: ENSEMBL:ENSG00000121634 ; xref: REACTOME:P48165]
Gene [OrphaNum:140567 ; Name:V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) ; Symbol:MAF ; xref: GENATLAS:MAF ; xref: HGNC:6776 ; xref: OMIM:177075 ; xref: UNIPROTKB/SWISSPROT:O75444 ; xref: ENSEMBL:ENSG00000178573]
Gene [OrphaNum:233060 ; Name:Vimentin ; Symbol:VIM ; xref: REACTOME:P08670 ; xref: ENSEMBL:ENSG00000026025 ; xref: HGNC:12692 ; xref: GENATLAS:VIM ; xref: OMIM:193060 ; xref: UNIPROTKB/SWISSPROT:P08670]
Gene [OrphaNum:120849 ; Name:Crystallin, gamma C ; Symbol:CRYGC ; xref: GENATLAS:CRYGC ; xref: HGNC:2410 ; xref: OMIM:123680 ; xref: UNIPROTKB/SWISSPROT:P07315 ; xref: ENSEMBL:ENSG00000163254]
Gene [OrphaNum:120836 ; Name:Crystallin, beta A1 ; Symbol:CRYBA1 ; xref: GENATLAS:CRYBA1 ; xref: HGNC:2394 ; xref: OMIM:123610 ; xref: UNIPROTKB/SWISSPROT:P05813 ; xref: ENSEMBL:ENSG00000108255]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985
Gene [OrphaNum:120841 ; Name:Crystallin, beta B2 ; Symbol:CRYBB2 ; xref: GENATLAS:CRYBB2 ; xref: HGNC:2398 ; xref: OMIM:123620 ; xref: UNIPROTKB/SWISSPROT:P43320 ; xref: ENSEMBL:ENSG00000244752]
Gene [OrphaNum:120852 ; Name:Crystallin, gamma D ; Symbol:CRYGD ; xref: GENATLAS:CRYGD ; xref: HGNC:2411 ; xref: OMIM:123690 ; xref: UNIPROTKB/SWISSPROT:P07320 ; xref: ENSEMBL:ENSG00000118231]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98986
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98987
Gene [OrphaNum:140565 ; Name:Cataract, anterior polar 1 gene ; Symbol:CTAA1 ; xref: GENATLAS:CTAA1 ; xref: HGNC:2489 ; xref: OMIM:115650]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990
Gene [OrphaNum:270347 ; Name:FYVE and coiled-coil domain containing 1 ; Symbol:FYCO1 ; xref: ENSEMBL:ENSG00000163820 ; xref: HGNC:14673 ; xref: OMIM:607182 ; xref: GENATLAS:FYCO1 ; xref: UNIPROTKB/SWISSPROT:Q9BQS8]
Gene [OrphaNum:120828 ; Name:Crystallin, alpha A ; Symbol:CRYAA ; xref: UNIPROTKB/SWISSPROT:P02489 ; xref: GENATLAS:CRYAA ; xref: HGNC:2388 ; xref: OMIM:123580 ; xref: ENSEMBL:ENSG00000160202]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991
Gene [OrphaNum:123783 ; Name:Nance-Horan syndrome (congenital cataracts and dental anomalies) ; Symbol:NHS ; xref: ENSEMBL:ENSG00000188158 ; xref: GENATLAS:NHS ; xref: HGNC:7820 ; xref: OMIM:300457 ; xref: UNIPROTKB/SWISSPROT:Q6T4R5]
Gene [OrphaNum:119034 ; Name:Beaded filament structural protein 2, phakinin ; Symbol:BFSP2 ; xref: GENATLAS:BFSP2 ; xref: HGNC:1041 ; xref: OMIM:603212 ; xref: UNIPROTKB/SWISSPROT:Q13515 ; xref: ENSEMBL:ENSG00000170819]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121
Gene [OrphaNum:209474 ; Name:EPH receptor A2 ; Symbol:EPHA2 ; xref: ENSEMBL:ENSG00000142627 ; xref: GENATLAS:EPHA2 ; xref: HGNC:3386 ; xref: OMIM:176946 ; xref: UNIPROTKB/SWISSPROT:P29317]
Gene [OrphaNum:139158 ; Name:Chromatin modifying protein 4B ; Symbol:CHMP4B ; xref: GENATLAS:CHMP4B ; xref: HGNC:16171 ; xref: OMIM:610897 ; xref: UNIPROTKB/SWISSPROT:Q9H444 ; xref: ENSEMBL:ENSG00000101421 ; xref: REACTOME:Q9H444]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994
Gene [OrphaNum:123238 ; Name:Major intrinsic protein of lens fiber ; Symbol:MIP ; xref: GENATLAS:MIP ; xref: HGNC:7103 ; xref: OMIM:154050 ; xref: UNIPROTKB/SWISSPROT:P30301 ; xref: ENSEMBL:ENSG00000135517 ; xref: REACTOME:P30301]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995
Gene [OrphaNum:122520 ; Name:Heat shock transcription factor 4 ; Symbol:HSF4 ; xref: GENATLAS:HSF4 ; xref: HGNC:5227 ; xref: OMIM:602438 ; xref: UNIPROTKB/SWISSPROT:Q9ULV5 ; xref: ENSEMBL:ENSG00000102878]
Gene [OrphaNum:120839 ; Name:Crystallin, beta A4 ; Symbol:CRYBA4 ; xref: GENATLAS:CRYBA4 ; xref: HGNC:2396 ; xref: OMIM:123631 ; xref: UNIPROTKB/SWISSPROT:P53673 ; xref: ENSEMBL:ENSG00000196431]
Adult-onset foveomacular vitelliform dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000
Gene [OrphaNum:119029 ; Name:Bestrophin 1 ; Symbol:BEST1 ; xref: OMIM:607854 ; xref: UNIPROTKB/SWISSPROT:O76090 ; xref: GENATLAS:BEST1 ; xref: HGNC:12703 ; xref: ENSEMBL:ENSG00000167995]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99001
Reticular dystrophy of the retinal pigment epithelium
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002
Ulnar hypoplasia - lobster-claw deformity of feet
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122
Multifocal pattern dystrophy simulating fundus flavimaculatus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99004
Autosomal recessive optic atrophy, OPA6 type
Congenital or early infantile optic atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99012
Autosomal recessive spastic paraplegia type 7
Gene [OrphaNum:119829 ; Name:Spastic paraplegia 7 (pure and complicated autosomal recessive) ; Symbol:SPG7 ; xref: GENATLAS:SPG7 ; xref: HGNC:11237 ; xref: OMIM:602783 ; xref: UNIPROTKB/SWISSPROT:Q9UQ90 ; xref: ENSEMBL:ENSG00000197912]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013
X-linked Charcot-Marie-Tooth disease type 5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99022
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125
Adult-onset autosomal dominant leukodystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027
Gene [OrphaNum:123095 ; Name:Lamin B1 ; Symbol:LMNB1 ; xref: GENATLAS:LMNB1 ; xref: HGNC:6637 ; xref: OMIM:150340 ; xref: UNIPROTKB/SWISSPROT:P20700 ; xref: ENSEMBL:ENSG00000113368 ; xref: REACTOME:P20700]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126
Congenitally uncorrected transposition of the great arteries with coarctation
Congenitally uncorrected transposition of the great vessels with coarctation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
Double outlet right ventricle, Fallot type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99043
Double outlet right ventricle with subaortic ventricular septal defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99044
Double outlet right ventricle with subpulmonary ventricular septal defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99045
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99046
Double outlet right ventricle with doubly committed ventricular septal defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99047
Mandibulofacial dysostosis, Toriello type
X-linked mandibulofacial dysostosis with limb anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131
Acrorenal defect - ectodermal dysplasia - diabetes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133
Atrial septal defect, ostium secundum type
Gene [OrphaNum:237462 ; Name:T-box 20 ; Symbol:TBX20 ; xref: ENSEMBL:ENSG00000164532 ; xref: OMIM:606061 ; xref: UNIPROTKB/SWISSPROT:Q9UMR3 ; xref: HGNC:11598 ; xref: GENATLAS:TBX20]
Gene [OrphaNum:122035 ; Name:GATA binding protein 4 ; Symbol:GATA4 ; xref: GENATLAS:GATA4 ; xref: HGNC:4173 ; xref: OMIM:600576 ; xref: UNIPROTKB/SWISSPROT:P43694 ; xref: ENSEMBL:ENSG00000136574 ; xref: REACTOME:P43694]
Gene [OrphaNum:123619 ; Name:Myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) ; Symbol:MYH6 ; xref: REACTOME:P13533 ; xref: GENATLAS:MYH6 ; xref: HGNC:7576 ; xref: OMIM:160710 ; xref: UNIPROTKB/SWISSPROT:P13533 ; xref: ENSEMBL:ENSG00000197616]
Gene [OrphaNum:291853 ; Name:GATA binding protein 6 ; Symbol:GATA6 ; xref: GENATLAS:GATA6 ; xref: HGNC:4174 ; xref: OMIM:601656 ; xref: ENSEMBL:ENSG00000141448 ; xref: UNIPROTKB/SWISSPROT:Q92908]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103
Gene [OrphaNum:240691 ; Name:Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ; Symbol:CITED2 ; xref: OMIM:602937 ; xref: UNIPROTKB/SWISSPROT:Q99967 ; xref: GENATLAS:CITED2 ; xref: HGNC:1987 ; xref: ENSEMBL:ENSG00000164442]
Gene [OrphaNum:237464 ; Name:Tolloid-like 1 ; Symbol:TLL1 ; xref: ENSEMBL:ENSG00000038295 ; xref: HGNC:11843 ; xref: GENATLAS:TLL1 ; xref: UNIPROTKB/SWISSPROT:O43897 ; xref: OMIM:606742]
Atrial septal defect, coronary sinus type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99104
Atrial septal defect, sinus venosus type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105
Atrial septal defect, ostium primum type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99108
Arthrogryposis-like hand anomaly - sensorineural deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144
X-linked distal arthrogryposis multiplex congenita
Spinal muscular atrophy with arthrogryposis
X-linked infantile spinal muscular atrophy
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive;
Gene [OrphaNum:140036 ; Name:Ubiquitin-like modifier activating enzyme 1 ; Symbol:UBA1 ; xref: GENATLAS:UBA1 ; xref: HGNC:12469 ; xref: OMIM:314370 ; xref: UNIPROTKB/SWISSPROT:P22314 ; xref: REACTOME:P22314 ; xref: ENSEMBL:ENSG00000130985]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145
Congenital partial pulmonary venous return anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124
Congenital total pulmonary venous return anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99134
6-phosphogluconate dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99135
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99139
Posterior choanal atresia - lymphedema syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149
Arthrogryposis multiplex congenita - whistling face
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99179
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Gene [OrphaNum:119094 ; Name:Bruton agammaglobulinemia tyrosine kinase ; Symbol:BTK ; xref: ENSEMBL:ENSG00000010671 ; xref: REACTOME:Q06187 ; xref: GENATLAS:BTK ; xref: HGNC:1133 ; xref: OMIM:300300 ; xref: UNIPROTKB/SWISSPROT:Q06187]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Paternal uniparental disomy of chromosome 13
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99324
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99408
Turner syndrome due to structural X chromosome anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Complete androgen insensitivity syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429
Spondyloepimetaphyseal dysplasia, Handigodu type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99645
Metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
Gene [OrphaNum:299152 ; Name:Isocitrate dehydrogenase 1 (NADP+), soluble ; Symbol:IDH1 ; xref: HGNC:5382 ; xref: OMIM:147700 ; xref: GENATLAS:IDH1 ; xref: UNIPROTKB/SWISSPROT:O75874]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99647
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda - progressive arthropathy
Gene [OrphaNum:120528 ; Name:WNT1 inducible signaling pathway protein 3 ; Symbol:WISP3 ; xref: GENATLAS:WISP3 ; xref: HGNC:12771 ; xref: OMIM:603400 ; xref: UNIPROTKB/SWISSPROT:O95389 ; xref: ENSEMBL:ENSG00000112761]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1160
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168
Gene [OrphaNum:121402 ; Name:Aprataxin ; Symbol:APTX ; xref: GENATLAS:APTX ; xref: HGNC:15984 ; xref: OMIM:606350 ; xref: UNIPROTKB/SWISSPROT:Q7Z2E3 ; xref: ENSEMBL:ENSG00000137074]
Mesial temporal lobe epilepsy with hippocampal sclerosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99706
Autosomal recessive cerebelloparenchymal disorder type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99723
Infantile and juvenile forms of acromegaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725
Gene [OrphaNum:119902 ; Name:Sulfite oxidase ; Symbol:SUOX ; xref: GENATLAS:SUOX ; xref: HGNC:11460 ; xref: OMIM:606887 ; xref: UNIPROTKB/SWISSPROT:P51687 ; xref: REACTOME:P51687 ; xref: ENSEMBL:ENSG00000139531]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732
Gene [OrphaNum:123455 ; Name:Molybdenum cofactor synthesis 2 ; Symbol:MOCS2 ; xref: GENATLAS:MOCS2 ; xref: HGNC:7193 ; xref: OMIM:603708 ; xref: UNIPROTKB/SWISSPROT:O96033 ; xref: REACTOME:O96033 ; xref: ENSEMBL:ENSG00000164172]
Gene [OrphaNum:122256 ; Name:Gephyrin ; Symbol:GPHN ; xref: GENATLAS:GPHN ; xref: HGNC:15465 ; xref: OMIM:603930 ; xref: UNIPROTKB/SWISSPROT:Q9NQX3 ; xref: REACTOME:Q9NQX3 ; xref: ENSEMBL:ENSG00000171723]
Gene [OrphaNum:285763 ; Name:Molybdenum cofactor synthesis 3 ; Symbol:MOCS3 ; xref: HGNC:15765 ; xref: GENATLAS:MOCS3 ; xref: GENATLAS:O95396 ; xref: OMIM:609277 ; xref: ENSEMBL:ENSG00000124217]
Gene [OrphaNum:123452 ; Name:Molybdenum cofactor synthesis 1 ; Symbol:MOCS1 ; xref: GENATLAS:MOCS1 ; xref: HGNC:7190 ; xref: OMIM:603707 ; xref: UNIPROTKB/SWISSPROT:Q9NZB8 ; xref: REACTOME:Q9NZB8 ; xref: ENSEMBL:ENSG00000124615]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735
Acetazolamide-responsive congenital myotonia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736
Cerebellar ataxia - ectodermal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99740
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741
Gene [OrphaNum:118794 ; Name:Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 ; Symbol:SLC25A19 ; xref: GENATLAS:SLC25A19 ; xref: HGNC:14409 ; xref: OMIM:606521 ; xref: UNIPROTKB/SWISSPROT:Q9HC21 ; xref: ENSEMBL:ENSG00000125454]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749
Gene [OrphaNum:122370 ; Name:HCLS1 associated protein X-1 ; Symbol:HAX1 ; xref: GENATLAS:HAX1 ; xref: HGNC:16915 ; xref: OMIM:605998 ; xref: UNIPROTKB/SWISSPROT:O00165 ; xref: ENSEMBL:ENSG00000143575]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175
Familial hyperreninemic hypoaldosteronism type 1
Corticosterone methyl-oxidase deficiency type I
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99763
Gene [OrphaNum:120955 ; Name:Cytochrome P450, family 11, subfamily B, polypeptide 2 ; Symbol:CYP11B2 ; xref: GENATLAS:CYP11B2 ; xref: HGNC:2592 ; xref: OMIM:124080 ; xref: UNIPROTKB/SWISSPROT:P19099 ; xref: REACTOME:P19099 ; xref: ENSEMBL:ENSG00000179142]
Familial hyperreninemic hypoaldosteronism type 2
Aldosterone synthase deficiency unlinked to CYP11B2
Aldosterone synthase deficiency unlinked to the aldosterone synthase gene
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99764
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99776
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99777
Familial articular chondrocalcinosis type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99781
Familial articular chondrocalcinosis type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99782
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99783
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99784
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99785
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99786
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99787
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99788
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99790
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99792
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796
Luteinizing hormone-releasing hormone deficiency with ataxia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99797
Gene [OrphaNum:123495 ; Name:Msh homeobox 1 ; Symbol:MSX1 ; xref: GENATLAS:MSX1 ; xref: HGNC:7391 ; xref: OMIM:142983 ; xref: UNIPROTKB/SWISSPROT:P28360 ; xref: ENSEMBL:ENSG00000163132]
Gene [OrphaNum:118954 ; Name:Axin 2 (conductin, axil) ; Symbol:AXIN2 ; xref: GENATLAS:AXIN2 ; xref: HGNC:904 ; xref: OMIM:604025 ; xref: UNIPROTKB/SWISSPROT:Q9Y2T1 ; xref: ENSEMBL:ENSG00000168646]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798
Gene [OrphaNum:189127 ; Name:Latent transforming growth factor beta binding protein 3 ; Symbol:LTBP3 ; xref: GENATLAS:LTBP3 ; xref: HGNC:6716 ; xref: OMIM:602090 ; xref: UNIPROTKB/SWISSPROT:Q9NS15 ; xref: ENSEMBL:ENSG00000168056]
Gene [OrphaNum:124105 ; Name:Paired box 9 ; Symbol:PAX9 ; xref: HGNC:8623 ; xref: OMIM:167416 ; xref: UNIPROTKB/SWISSPROT:P55771 ; xref: GENATLAS:PAX9 ; xref: ENSEMBL:ENSG00000198807]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802
Gene [OrphaNum:299660 ; Name:v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) ; Symbol:AKT3 ; xref: HGNC:393 ; xref: GENATLAS:AKT3 ; xref: UNIPROTKB/SWISSPROT:Q9Y243 ; xref: OMIM:611223]
Congenital central alveolar hypoventilation - Hirschsprung disease
Gene [OrphaNum:117805 ; Name:Paired-like homeobox 2b ; Symbol:PHOX2B ; xref: GENATLAS:PHOX2B ; xref: HGNC:9143 ; xref: OMIM:603851 ; xref: UNIPROTKB/SWISSPROT:Q99453 ; xref: ENSEMBL:ENSG00000109132]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial;
Gene [OrphaNum:159769 ; Name:Achaete-scute complex homolog 1 (Drosophila) ; Symbol:ASCL1 ; xref: GENATLAS:ASCL1 ; xref: HGNC:738 ; xref: OMIM:100790 ; xref: UNIPROTKB/SWISSPROT:P50553 ; xref: ENSEMBL:ENSG00000139352]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99805
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806
Ataxia - hypogonadism - choroidal dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99817
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99818
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819
Eczema-thrombocytopenia-immunodeficiency syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906
Gene [OrphaNum:292448 ; Name:WAS/WASL interacting protein family, member 1 ; Symbol:WIPF1 ; xref: HGNC:12736 ; xref: OMIM:602357 ; xref: UNIPROTKB/SWISSPROT:O43516 ; xref: GENATLAS:WIPF1]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182
Common variable immunodeficiency due to an intrinsic T cell defect
Gene [OrphaNum:235193 ; Name:Membrane-spanning 4-domains, subfamily A, member 1 ; Symbol:MS4A1 ; xref: ENSEMBL:ENSG00000156738 ; xref: HGNC:7315 ; xref: GENATLAS:MS4A1 ; xref: UNIPROTKB/SWISSPROT:P11836 ; xref: OMIM:112210]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99831
Gene [OrphaNum:122565 ; Name:Inducible T-cell co-stimulator ; Symbol:ICOS ; xref: GENATLAS:ICOS ; xref: HGNC:5351 ; xref: OMIM:604558 ; xref: UNIPROTKB/SWISSPROT:Q9Y6W8 ; xref: ENSEMBL:ENSG00000163600 ; xref: REACTOME:Q9Y6W8]
Resistance to thyrotropin-releasing hormone syndrome
Central hypothyroidism due to TRH receptor deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832
Gene [OrphaNum:120259 ; Name:Thyrotropin-releasing hormone ; Symbol:TRH ; xref: GENATLAS:TRH ; xref: HGNC:12298 ; xref: OMIM:275120 ; xref: UNIPROTKB/SWISSPROT:P20396 ; xref: ENSEMBL:ENSG00000170893 ; xref: REACTOME:P20396]
Gene [OrphaNum:120261 ; Name:Thyrotropin-releasing hormone receptor ; Symbol:TRHR ; xref: GENATLAS:TRHR ; xref: HGNC:12299 ; xref: OMIM:188545 ; xref: UNIPROTKB/SWISSPROT:P34981 ; xref: IUPHAR:363 ; xref: REACTOME:P34981 ; xref: ENSEMBL:ENSG00000174417]
Gene [OrphaNum:122698 ; Name:Integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) ; Symbol:ITGB2 ; xref: GENATLAS:ITGB2 ; xref: HGNC:6155 ; xref: OMIM:600065 ; xref: UNIPROTKB/SWISSPROT:P05107 ; xref: ENSEMBL:ENSG00000160255 ; xref: REACTOME:P05107]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842
Gene [OrphaNum:118838 ; Name:Solute carrier family 35, member C1 ; Symbol:SLC35C1 ; xref: GENATLAS:SLC35C1 ; xref: HGNC:20197 ; xref: OMIM:605881 ; xref: UNIPROTKB/SWISSPROT:Q96A29 ; xref: REACTOME:Q96A29 ; xref: ENSEMBL:ENSG00000181830]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843
Gene [OrphaNum:178806 ; Name:Fermitin family homolog 3 (Drosophila) ; Symbol:FERMT3 ; xref: GENATLAS:FERMT3 ; xref: HGNC:23151 ; xref: OMIM:607901 ; xref: UNIPROTKB/SWISSPROT:Q86UX7 ; xref: ENSEMBL:ENSG00000149781]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive;
Gene [OrphaNum:169944 ; Name:Lipin 1 ; Symbol:LPIN1 ; xref: GENATLAS:LPIN1 ; xref: HGNC:13345 ; xref: OMIM:605518 ; xref: UNIPROTKB/SWISSPROT:Q14693 ; xref: ENSEMBL:ENSG00000134324 ; xref: REACTOME:Q14693]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845
Gene [OrphaNum:123520 ; Name:Mitochondrially encoded cytochrome c oxidase III ; Symbol:MT-CO3 ; xref: GENATLAS:MT-CO3 ; xref: HGNC:7422 ; xref: OMIM:516050 ; xref: UNIPROTKB/SWISSPROT:P00414 ; xref: ENSEMBL:ENSG00000198938 ; xref: REACTOME:P00414]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185
Hemolytic anemia due to erythrocyte enolase deficiency
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- No data available;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99847
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Gene [OrphaNum:121551 ; Name:Enolase 3 (beta, muscle) ; Symbol:ENO3 ; xref: GENATLAS:ENO3 ; xref: HGNC:3354 ; xref: OMIM:131370 ; xref: UNIPROTKB/SWISSPROT:P13929 ; xref: ENSEMBL:ENSG00000108515 ; xref: REACTOME:P13929]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849
Reunion island - anorexia - vomiting which is irrepressible - neurological signs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852
Gene [OrphaNum:121330 ; Name:Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa ; Symbol:EIF2B3 ; xref: UNIPROTKB/SWISSPROT:Q9NR50 ; xref: GENATLAS:EIF2B3 ; xref: HGNC:3259 ; xref: OMIM:606273 ; xref: REACTOME:Q9NR50 ; xref: ENSEMBL:ENSG00000070785]
Gene [OrphaNum:121326 ; Name:Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa ; Symbol:EIF2B2 ; xref: GENATLAS:EIF2B2 ; xref: HGNC:3258 ; xref: OMIM:606454 ; xref: UNIPROTKB/SWISSPROT:P49770 ; xref: ENSEMBL:ENSG00000119718 ; xref: REACTOME:P49770]
Gene [OrphaNum:121340 ; Name:Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa ; Symbol:EIF2B5 ; xref: GENATLAS:EIF2B5 ; xref: HGNC:3261 ; xref: OMIM:603945 ; xref: UNIPROTKB/SWISSPROT:Q13144 ; xref: REACTOME:Q13144 ; xref: ENSEMBL:ENSG00000145191]
Gene [OrphaNum:121320 ; Name:Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa ; Symbol:EIF2B1 ; xref: GENATLAS:EIF2B1 ; xref: HGNC:3257 ; xref: OMIM:606686 ; xref: UNIPROTKB/SWISSPROT:Q14232 ; xref: ENSEMBL:ENSG00000111361 ; xref: REACTOME:Q14232]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853
Gene [OrphaNum:121334 ; Name:Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa ; Symbol:EIF2B4 ; xref: GENATLAS:EIF2B4 ; xref: HGNC:3260 ; xref: OMIM:606687 ; xref: UNIPROTKB/SWISSPROT:Q9UI10 ; xref: ENSEMBL:ENSG00000115211 ; xref: REACTOME:Q9UI10]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856
Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186
Gene [OrphaNum:159897 ; Name:Chromosome 10 open reading frame 2 ; Symbol:C10ORF2 ; xref: ENSEMBL:ENSG00000107815 ; xref: GENATLAS:C10orf2 ; xref: HGNC:1160 ; xref: OMIM:606075 ; xref: UNIPROTKB/SWISSPROT:Q96RR1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99857
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99859
Lethal ataxia with deafness and optic atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187
Acute and disseminated Langerhans cell histiocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99870
Chronic and localized Langerhans cell histiocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99871
Congenital Langerhans cell histiocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99872
Chronic and multifocal Langerhans cell histiocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99873
Adult pulmonary Langerhans cell histiocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99874
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99875
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99876
Gene [OrphaNum:120707 ; Name:Collagen, type I, alpha 2 ; Symbol:COL1A2 ; xref: GENATLAS:COL1A2 ; xref: HGNC:2198 ; xref: OMIM:120160 ; xref: UNIPROTKB/SWISSPROT:P08123 ; xref: ENSEMBL:ENSG00000164692 ; xref: REACTOME:P08123]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99877
Gene [OrphaNum:119271 ; Name:Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ; Symbol:CDC73 ; xref: GENATLAS:CDC73 ; xref: HGNC:16783 ; xref: OMIM:607393 ; xref: UNIPROTKB/SWISSPROT:Q6P1J9 ; xref: ENSEMBL:ENSG00000134371]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99878
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879
Gene [OrphaNum:159968 ; Name:Hyperparathyroidism 1 gene ; Symbol:HRPT1 ; xref: GENATLAS:HRPT1 ; xref: HGNC:5190 ; xref: OMIM:145000]
Hyperparathyroidism - jaw tumor syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880
Gene [OrphaNum:124173 ; Name:Pancreatic and duodenal homeobox 1 ; Symbol:PDX1 ; xref: OMIM:600733 ; xref: UNIPROTKB/SWISSPROT:P52945 ; xref: GENATLAS:PDX1 ; xref: HGNC:6107 ; xref: REACTOME:P52945 ; xref: ENSEMBL:ENSG00000139515]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885
Gene [OrphaNum:168345 ; Name:Insulin ; Symbol:INS ; xref: GENATLAS:INS ; xref: HGNC:6081 ; xref: OMIM:176730 ; xref: UNIPROTKB/SWISSPROT:P01308 ; xref: ENSEMBL:ENSG00000254647 ; xref: REACTOME:P01308]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886
Gene [OrphaNum:206724 ; Name:Zinc finger protein 57 homolog (mouse) ; Symbol:ZFP57 ; xref: HGNC:18791 ; xref: OMIM:612192 ; xref: UNIPROTKB/SWISSPROT:Q9NU63 ; xref: ENSEMBL:ENSG00000204644 ; xref: GENATLAS:ZFP57]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898
Genetic susceptibility to infections caused by BCG and atypical mycobacteria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99899
Long chain Acyl-CoA dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99900
Gene [OrphaNum:159889 ; Name:Acyl-Coenzyme A dehydrogenase, long chain ; Symbol:ACADL ; xref: GENATLAS:ACADL ; xref: HGNC:88 ; xref: OMIM:609576 ; xref: UNIPROTKB/SWISSPROT:P28330 ; xref: ENSEMBL:ENSG00000115361 ; xref: REACTOME:P28330]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901
Gene [OrphaNum:123334 ; Name:Acyl-Coenzyme A dehydrogenase family, member 9 ; Symbol:ACAD9 ; xref: GENATLAS:ACAD9 ; xref: HGNC:21497 ; xref: OMIM:611103 ; xref: UNIPROTKB/SWISSPROT:Q9H845 ; xref: ENSEMBL:ENSG00000177646]
X-linked intellectual deficit, Atkin type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926
Gene [OrphaNum:121506 ; Name:Eukaryotic translation initiation factor 4H ; Symbol:EIF4H ; xref: ENSEMBL:ENSG00000106682 ; xref: GENATLAS:EIF4H ; xref: HGNC:12741 ; xref: OMIM:603431 ; xref: UNIPROTKB/SWISSPROT:Q15056 ; xref: REACTOME:Q15056]
Gene [OrphaNum:122319 ; Name:GTF2I repeat domain containing 1 ; Symbol:GTF2IRD1 ; xref: GENATLAS:GTF2IRD1 ; xref: HGNC:4661 ; xref: OMIM:604318 ; xref: UNIPROTKB/SWISSPROT:Q9UHL9 ; xref: ENSEMBL:ENSG00000006704]
Gene [OrphaNum:122310 ; Name:General transcription factor II, i ; Symbol:GTF2I ; xref: GENATLAS:GTF2I ; xref: HGNC:4659 ; xref: OMIM:601679 ; xref: UNIPROTKB/SWISSPROT:P78347 ; xref: ENSEMBL:ENSG00000077809]
Gene [OrphaNum:122995 ; Name:Linker for activation of T cells family, member 2 ; Symbol:LAT2 ; xref: GENATLAS:LAT2 ; xref: HGNC:12749 ; xref: OMIM:605719 ; xref: UNIPROTKB/SWISSPROT:Q9GZY6 ; xref: ENSEMBL:ENSG00000086730]
Gene [OrphaNum:120497 ; Name:Williams Beuren syndrome chromosome region 22 ; Symbol:WBSCR22 ; xref: GENATLAS:WBSCR22 ; xref: HGNC:16405 ; xref: UNIPROTKB/SWISSPROT:O43709 ; xref: ENSEMBL:ENSG00000071462]
Gene [OrphaNum:159094 ; Name:Williams-Beuren syndrome chromosome region 2 ; Symbol:WBSCR2 ; xref: GENATLAS:WBSCR2 ; xref: HGNC:12746]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Gene [OrphaNum:119944 ; Name:Transducin (beta)-like 2 ; Symbol:TBL2 ; xref: GENATLAS:TBL2 ; xref: HGNC:11586 ; xref: OMIM:605842 ; xref: UNIPROTKB/SWISSPROT:Q9Y4P3 ; xref: ENSEMBL:ENSG00000106638]
Gene [OrphaNum:118283 ; Name:Replication factor C (activator 1) 2, 40kDa ; Symbol:RFC2 ; xref: GENATLAS:RFC2 ; xref: HGNC:9970 ; xref: OMIM:600404 ; xref: UNIPROTKB/SWISSPROT:P35250 ; xref: REACTOME:P35250 ; xref: ENSEMBL:ENSG00000049541]
Gene [OrphaNum:120495 ; Name:Williams-Beuren syndrome chromosome region 16 ; Symbol:WBSCR16 ; xref: ENSEMBL:ENSG00000174374 ; xref: GENATLAS:WBSCR16 ; xref: HGNC:14948 ; xref: UNIPROTKB/SWISSPROT:Q96I51]
Gene [OrphaNum:121833 ; Name:FK506 binding protein 6, 36kDa ; Symbol:FKBP6 ; xref: GENATLAS:FKBP6 ; xref: HGNC:3722 ; xref: OMIM:604839 ; xref: UNIPROTKB/SWISSPROT:O75344 ; xref: REACTOME:O75344 ; xref: ENSEMBL:ENSG00000077800]
Gene [OrphaNum:120507 ; Name:Williams Beuren syndrome chromosome region 27 ; Symbol:WBSCR27 ; xref: GENATLAS:WBSCR27 ; xref: HGNC:19068 ; xref: UNIPROTKB/SWISSPROT:Q8N6F8 ; xref: ENSEMBL:ENSG00000165171]
Gene [OrphaNum:120630 ; Name:CAP-GLY domain containing linker protein 2 ; Symbol:CLIP2 ; xref: ENSEMBL:ENSG00000106665 ; xref: GENATLAS:CLIP2 ; xref: HGNC:2586 ; xref: OMIM:603432 ; xref: UNIPROTKB/SWISSPROT:Q9UDT6]
Gene [OrphaNum:159194 ; Name:DnaJ (Hsp40) homolog, subfamily C, member 30 ; Symbol:DNAJC30 ; xref: GENATLAS:DNAJC30 ; xref: HGNC:16410 ; xref: UNIPROTKB/SWISSPROT:Q96LL9 ; xref: ENSEMBL:ENSG00000176410]
Gene [OrphaNum:118970 ; Name:Bromodomain adjacent to zinc finger domain, 1B ; Symbol:BAZ1B ; xref: ENSEMBL:ENSG00000009954 ; xref: GENATLAS:BAZ1B ; xref: HGNC:961 ; xref: OMIM:605681 ; xref: UNIPROTKB/SWISSPROT:Q9UIG0]
Gene [OrphaNum:123060 ; Name:LIM domain kinase 1 ; Symbol:LIMK1 ; xref: HGNC:6613 ; xref: OMIM:601329 ; xref: UNIPROTKB/SWISSPROT:P53667 ; xref: REACTOME:P53667 ; xref: GENATLAS:LIMK1 ; xref: ENSEMBL:ENSG00000106683]
Gene [OrphaNum:123286 ; Name:MLX interacting protein-like ; Symbol:MLXIPL ; xref: REACTOME:Q9NP71 ; xref: GENATLAS:MLXIPL ; xref: HGNC:12744 ; xref: OMIM:605678 ; xref: UNIPROTKB/SWISSPROT:Q9NP71 ; xref: ENSEMBL:ENSG00000009950]
Gene [OrphaNum:119010 ; Name:B-cell CLL/lymphoma 7B ; Symbol:BCL7B ; xref: ENSEMBL:ENSG00000106635 ; xref: GENATLAS:BCL7B ; xref: HGNC:1005 ; xref: OMIM:605846 ; xref: UNIPROTKB/SWISSPROT:Q9BQE9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Gene [OrphaNum:118205 ; Name:RAB7A, member RAS oncogene family ; Symbol:RAB7A ; xref: GENATLAS:RAB7A ; xref: HGNC:9788 ; xref: OMIM:602298 ; xref: UNIPROTKB/SWISSPROT:P51149 ; xref: ENSEMBL:ENSG00000075785]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936
prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Choanal atresia - deafness - cardiac defects - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99937
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Gene [OrphaNum:122022 ; Name:Glycyl-tRNA synthetase ; Symbol:GARS ; xref: GENATLAS:GARS ; xref: HGNC:4162 ; xref: OMIM:600287 ; xref: UNIPROTKB/SWISSPROT:P41250 ; xref: REACTOME:P41250 ; xref: ENSEMBL:ENSG00000106105]
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Gene [OrphaNum:123754 ; Name:Neurofilament, light polypeptide 68kDa ; Symbol:NEFL ; xref: GENATLAS:NEFL ; xref: HGNC:7739 ; xref: OMIM:162280 ; xref: UNIPROTKB/SWISSPROT:P07196 ; xref: ENSEMBL:ENSG00000104725 ; xref: REACTOME:P07196]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940
Gene [OrphaNum:122526 ; Name:Heat shock 27kDa protein 1 ; Symbol:HSPB1 ; xref: ENSEMBL:ENSG00000106211 ; xref: REACTOME:P04792 ; xref: GENATLAS:HSPB1 ; xref: HGNC:5246 ; xref: OMIM:602195 ; xref: UNIPROTKB/SWISSPROT:P04792]
Autosomal dominant Charcot-Marie-Tooth disease type 2G
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99941
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944
Gene [OrphaNum:122064 ; Name:Ganglioside-induced differentiation-associated protein 1 ; Symbol:GDAP1 ; xref: GENATLAS:GDAP1 ; xref: HGNC:15968 ; xref: OMIM:606598 ; xref: UNIPROTKB/SWISSPROT:Q8TB36 ; xref: ENSEMBL:ENSG00000104381]
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Gene [OrphaNum:122532 ; Name:Heat shock 22kDa protein 8 ; Symbol:HSPB8 ; xref: GENATLAS:HSPB8 ; xref: HGNC:30171 ; xref: OMIM:608014 ; xref: UNIPROTKB/SWISSPROT:Q9UJY1 ; xref: ENSEMBL:ENSG00000152137]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Gene [OrphaNum:122840 ; Name:Kinesin family member 1B ; Symbol:KIF1B ; xref: GENATLAS:KIF1B ; xref: HGNC:16636 ; xref: OMIM:605995 ; xref: UNIPROTKB/SWISSPROT:O60333 ; xref: ENSEMBL:ENSG00000054523]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948
Gene [OrphaNum:118693 ; Name:SH3 domain and tetratricopeptide repeats 2 ; Symbol:SH3TC2 ; xref: GENATLAS:SH3TC2 ; xref: HGNC:29427 ; xref: OMIM:608206 ; xref: UNIPROTKB/SWISSPROT:Q8TF17 ; xref: ENSEMBL:ENSG00000169247]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949
Hereditary motor and sensory neuropathy, Lom type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950
Gene [OrphaNum:123716 ; Name:N-myc downstream regulated gene 1 ; Symbol:NDRG1 ; xref: GENATLAS:NDRG1 ; xref: HGNC:7679 ; xref: OMIM:605262 ; xref: UNIPROTKB/SWISSPROT:Q92597 ; xref: ENSEMBL:ENSG00000104419]
Autosomal recessive congenital hypomyelinating neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99951
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952
Gene [OrphaNum:118092 ; Name:Periaxin ; Symbol:PRX ; xref: GENATLAS:PRX ; xref: HGNC:13797 ; xref: OMIM:605725 ; xref: UNIPROTKB/SWISSPROT:Q9BXM0 ; xref: ENSEMBL:ENSG00000105227]
Hereditary motor and sensory neuropathy, Russe Type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954
Gene [OrphaNum:138570 ; Name:FYVE, RhoGEF and PH domain containing 4 ; Symbol:FGD4 ; xref: GENATLAS:FGD4 ; xref: HGNC:19125 ; xref: OMIM:611104 ; xref: UNIPROTKB/SWISSPROT:Q96M96 ; xref: ENSEMBL:ENSG00000139132 ; xref: REACTOME:Q96M96]
Gene [OrphaNum:123533 ; Name:Myotubularin related protein 2 ; Symbol:MTMR2 ; xref: GENATLAS:MTMR2 ; xref: HGNC:7450 ; xref: OMIM:603557 ; xref: UNIPROTKB/SWISSPROT:Q13614 ; xref: ENSEMBL:ENSG00000087053]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955
Gene [OrphaNum:118482 ; Name:SET binding factor 2 ; Symbol:SBF2 ; xref: GENATLAS:SBF2 ; xref: HGNC:2135 ; xref: OMIM:607697 ; xref: UNIPROTKB/SWISSPROT:Q86WG5 ; xref: ENSEMBL:ENSG00000133812]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956
Benign recurrent intrahepatic cholestasis type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960
Benign recurrent intrahepatic cholestasis type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961
Familial restrictive cardiomyopathy type 1
Gene [OrphaNum:120184 ; Name:Troponin I type 3 (cardiac) ; Symbol:TNNI3 ; xref: GENATLAS:TNNI3 ; xref: HGNC:11947 ; xref: OMIM:191044 ; xref: UNIPROTKB/SWISSPROT:P19429 ; xref: REACTOME:P19429 ; xref: ENSEMBL:ENSG00000129991]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99985
Familial restrictive cardiomyopathy type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99986
Anophthalmia - esophageal-genital syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99987
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989
Hereditary cystatin C amyloid angiopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100005
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006
Gene [OrphaNum:121393 ; Name:Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease) ; Symbol:APP ; xref: GENATLAS:APP ; xref: HGNC:620 ; xref: OMIM:104760 ; xref: UNIPROTKB/SWISSPROT:P05067 ; xref: ENSEMBL:ENSG00000142192 ; xref: REACTOME:P05067]
Hereditary amyloid precursor protein angiopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100007
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008
Gene [OrphaNum:120865 ; Name:Cystatin C (amyloid angiopathy and cerebral hemorrhage) ; Symbol:CST3 ; xref: GENATLAS:CST3 ; xref: HGNC:2475 ; xref: OMIM:604312 ; xref: UNIPROTKB/SWISSPROT:P01034 ; xref: ENSEMBL:ENSG00000101439 ; xref: REACTOME:P01034]
Benign adult familial myoclonic epilepsy type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100009
Benign adult familial myoclonic epilepsy type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100010
Lissencephaly with cerebellar hypoplasia type A
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011
Lissencephaly with cerebellar hypoplasia type B
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012
Lissencephaly with cerebellar hypoplasia type C
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013
Lissencephaly with cerebellar hypoplasia type D
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014
Lissencephaly with cerebellar hypoplasia type E
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015
Lissencephaly with cerebellar hypoplasia type F
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant;
Gene [OrphaNum:121533 ; Name:Enamelin ; Symbol:ENAM ; xref: GENATLAS:ENAM ; xref: HGNC:3344 ; xref: OMIM:606585 ; xref: UNIPROTKB/SWISSPROT:Q9NRM1 ; xref: ENSEMBL:ENSG00000132464]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032
Gene [OrphaNum:139802 ; Name:Family with sequence similarity 83, member H ; Symbol:FAM83H ; xref: GENATLAS:FAM83H ; xref: HGNC:24797 ; xref: OMIM:611927 ; xref: UNIPROTKB/SWISSPROT:Q6ZRV2 ; xref: ENSEMBL:ENSG00000180921]
Gene [OrphaNum:119653 ; Name:Amelogenin (amelogenesis imperfecta 1, X-linked) ; Symbol:AMELX ; xref: GENATLAS:AMELX ; xref: HGNC:461 ; xref: OMIM:300391 ; xref: UNIPROTKB/SWISSPROT:Q99217 ; xref: ENSEMBL:ENSG00000125363]
Gene [OrphaNum:225293 ; Name:WD repeat domain 72 ; Symbol:WDR72 ; xref: ENSEMBL:ENSG00000166415 ; xref: HGNC:26790 ; xref: UNIPROTKB/SWISSPROT:Q3MJ13 ; xref: GENATLAS:WDR72 ; xref: OMIM:613214]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033
Gene [OrphaNum:139176 ; Name:Matrix metallopeptidase 20 (enamelysin) ; Symbol:MMP20 ; xref: GENATLAS:MMP20 ; xref: HGNC:7167 ; xref: OMIM:604629 ; xref: UNIPROTKB/SWISSPROT:O60882 ; xref: ENSEMBL:ENSG00000137674]
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Gene [OrphaNum:139168 ; Name:Kallikrein-related peptidase 4 ; Symbol:KLK4 ; xref: OMIM:603767 ; xref: UNIPROTKB/SWISSPROT:Q9Y5K2 ; xref: GENATLAS:KLK4 ; xref: HGNC:6365 ; xref: ENSEMBL:ENSG00000167749]
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034
Gene [OrphaNum:121113 ; Name:Distal-less homeobox 3 ; Symbol:DLX3 ; xref: GENATLAS:DLX3 ; xref: HGNC:2916 ; xref: OMIM:600525 ; xref: UNIPROTKB/SWISSPROT:O60479 ; xref: ENSEMBL:ENSG00000064195]
Autosomal dominant optic atrophy plus syndrome
Optic atrophy - deafness- polyneuropathy - myopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100039
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100040
Familial pseudohyperkalemia, Cardiff type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100041
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Gene [OrphaNum:121147 ; Name:Dynamin 2 ; Symbol:DNM2 ; xref: GENATLAS:DNM2 ; xref: HGNC:2974 ; xref: OMIM:602378 ; xref: UNIPROTKB/SWISSPROT:P50570 ; xref: REACTOME:P50570 ; xref: ENSEMBL:ENSG00000079805]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Gene [OrphaNum:139906 ; Name:Tyrosyl-tRNA synthetase ; Symbol:YARS ; xref: GENATLAS:YARS ; xref: HGNC:12840 ; xref: OMIM:603623 ; xref: UNIPROTKB/SWISSPROT:P54577 ; xref: ENSEMBL:ENSG00000134684 ; xref: REACTOME:P54577]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant benign distal spinal muscular atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100047
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100048
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049
Gene [OrphaNum:118618 ; Name:Serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) ; Symbol:SERPING1 ; xref: GENATLAS:SERPING1 ; xref: HGNC:1228 ; xref: OMIM:606860 ; xref: UNIPROTKB/SWISSPROT:P05155 ; xref: ENSEMBL:ENSG00000149131 ; xref: REACTOME:P05155]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-associated angioedema
Inherited estrogen-dependent angioneurotic edema
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054
Gene [OrphaNum:121663 ; Name:Coagulation factor XII (Hageman factor) ; Symbol:F12 ; xref: GENATLAS:F12 ; xref: HGNC:3530 ; xref: OMIM:610619 ; xref: UNIPROTKB/SWISSPROT:P00748 ; xref: REACTOME:P00748 ; xref: ENSEMBL:ENSG00000131187]
Gene [OrphaNum:118099 ; Name:Presenilin 1 ; Symbol:PSEN1 ; xref: GENATLAS:PSEN1 ; xref: HGNC:9508 ; xref: OMIM:104311 ; xref: UNIPROTKB/SWISSPROT:P49768 ; xref: REACTOME:P49768 ; xref: ENSEMBL:ENSG00000080815]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069
prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070
Gene [OrphaNum:168073 ; Name:Granulin ; Symbol:GRN ; xref: GENATLAS:GRN ; xref: HGNC:4601 ; xref: OMIM:138945 ; xref: UNIPROTKB/SWISSPROT:P28799 ; xref: ENSEMBL:ENSG00000030582]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1219
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094
Porphyria due to ALA dehydratase deficiency
Porphyria due to delta-Aminolevulinate dehydratase
Porphyria due to delta-aminolevulinate dehydratase (ALAD)
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924
Gene [OrphaNum:119569 ; Name:Aminolevulinate, delta-, dehydratase ; Symbol:ALAD ; xref: GENATLAS:ALAD ; xref: HGNC:395 ; xref: OMIM:125270 ; xref: UNIPROTKB/SWISSPROT:P13716 ; xref: ENSEMBL:ENSG00000148218 ; xref: REACTOME:P13716]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100932
Intellectual deficit associated with fragile site FRAXE
prevalence- 1-9 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973
Gene [OrphaNum:119509 ; Name:AF4/FMR2 family, member 2 ; Symbol:AFF2 ; xref: OMIM:300806 ; xref: UNIPROTKB/SWISSPROT:P51816 ; xref: GENATLAS:AFF2 ; xref: HGNC:3776 ; xref: ENSEMBL:ENSG00000155966]
Gene [OrphaNum:172996 ; Name:Transmembrane protein 185A ; Symbol:TMEM185A ; xref: HGNC:17125 ; xref: OMIM:300483 ; xref: UNIPROTKB/SWISSPROT:Q8NFB2 ; xref: GENATLAS:TMEM185A ; xref: ENSEMBL:ENSG00000155984]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976
Cloverleaf skull - asphyxiating thoracic dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225
Gene [OrphaNum:118257 ; Name:RecQ protein-like 4 ; Symbol:RECQL4 ; xref: GENATLAS:RECQL4 ; xref: HGNC:9949 ; xref: OMIM:603780 ; xref: UNIPROTKB/SWISSPROT:O94761 ; xref: ENSEMBL:ENSG00000160957]
Autosomal dominant complex spastic paraplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100979
Autosomal dominant pure spastic paraplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100980
Autosomal recessive complex spastic paraplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100981
Autosomal recessive pure spastic paraplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100982
Autosomal dominant spastic paraplegia type 3
Autosomal dominant familial spastic paraplegia type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984
Autosomal dominant spastic paraplegia type 4
Autosomal dominant familial spastic paraplegia type 2
Gene [OrphaNum:119801 ; Name:Spastin ; Symbol:SPAST ; xref: GENATLAS:SPAST ; xref: HGNC:11233 ; xref: OMIM:604277 ; xref: UNIPROTKB/SWISSPROT:Q9UBP0 ; xref: ENSEMBL:ENSG00000021574]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985
Autosomal recessive spastic paraplegia type 5A
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986
Autosomal dominant spastic paraplegia type 6
Autosomal dominant familial spastic paraplegia type 3
Gene [OrphaNum:123785 ; Name:Non imprinted in Prader-Willi/Angelman syndrome 1 ; Symbol:NIPA1 ; xref: GENATLAS:NIPA1 ; xref: HGNC:17043 ; xref: OMIM:608145 ; xref: UNIPROTKB/SWISSPROT:Q7RTP0 ; xref: ENSEMBL:ENSG00000170113]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988
Gene [OrphaNum:120525 ; Name:Wolf-Hirschhorn syndrome candidate 2 ; Symbol:WHSC2 ; xref: ENSEMBL:ENSG00000185049 ; xref: REACTOME:Q9H3P2 ; xref: GENATLAS:WHSC2 ; xref: HGNC:12768 ; xref: OMIM:606026 ; xref: UNIPROTKB/SWISSPROT:Q9H3P2]
Gene [OrphaNum:120521 ; Name:Wolf-Hirschhorn syndrome candidate 1 ; Symbol:WHSC1 ; xref: ENSEMBL:ENSG00000109685 ; xref: GENATLAS:WHSC1 ; xref: HGNC:12766 ; xref: OMIM:602952 ; xref: UNIPROTKB/SWISSPROT:O96028]
Gene [OrphaNum:293326 ; Name:Leucine zipper-EF-hand containing transmembrane protein 1 ; Symbol:LETM1 ; xref: HGNC:6556 ; xref: OMIM:604407 ; xref: GENATLAS:LETM1 ; xref: UNIPROTKB/SWISSPROT:O95202]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226
Autosomal dominant spastic paraplegia type 8
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989
Gene [OrphaNum:122831 ; Name:KIAA0196 ; Symbol:KIAA0196 ; xref: GENATLAS:KIAA0196 ; xref: HGNC:28984 ; xref: OMIM:610657 ; xref: UNIPROTKB/SWISSPROT:Q12768 ; xref: ENSEMBL:ENSG00000164961]
Autosomal dominant spastic paraplegia type 9
Cataracts motor neuropathy - short stature - skeletal anomalies
Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100990
Gene [OrphaNum:180224 ; Name:Spastic paraplegia 9 (autosomal dominant) ; Symbol:SPG9 ; xref: HGNC:11239 ; xref: OMIM:601162]
Autosomal dominant spastic paraplegia type 10
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991
Gene [OrphaNum:122851 ; Name:Kinesin family member 5A ; Symbol:KIF5A ; xref: GENATLAS:KIF5A ; xref: HGNC:6323 ; xref: OMIM:602821 ; xref: UNIPROTKB/SWISSPROT:Q12840 ; xref: ENSEMBL:ENSG00000155980 ; xref: REACTOME:Q12840]
Autosomal dominant spastic paraplegia type 12
Gene [OrphaNum:180211 ; Name:Reticulon 2 ; Symbol:RTN2 ; xref: GENATLAS:RTN2 ; xref: UNIPROTKB/SWISSPROT:O75298 ; xref: HGNC:10468 ; xref: OMIM:603183]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993
Autosomal dominant spastic paraplegia type 13
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994
Gene [OrphaNum:122542 ; Name:Heat shock 60kDa protein 1 (chaperonin) ; Symbol:HSPD1 ; xref: GENATLAS:HSPD1 ; xref: HGNC:5261 ; xref: OMIM:118190 ; xref: UNIPROTKB/SWISSPROT:P10809 ; xref: ENSEMBL:ENSG00000144381 ; xref: REACTOME:P10809]
Autosomal recessive spastic paraplegia type 14
Gene [OrphaNum:180294 ; Name:Spastic paraplegia 14 (autosomal recessive) ; Symbol:SPG14 ; xref: HGNC:13730 ; xref: GENATLAS:605229]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995
Autosomal recessive spastic paraplegia type 15
Spastic paraplegia - retinal degeneration
Gene [OrphaNum:159390 ; Name:Zinc finger, FYVE domain containing 26 ; Symbol:ZFYVE26 ; xref: GENATLAS:ZFYVE26 ; xref: HGNC:20761 ; xref: OMIM:612012 ; xref: UNIPROTKB/SWISSPROT:Q68DK2 ; xref: ENSEMBL:ENSG00000072121]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997
Gene [OrphaNum:180322 ; Name:Spastic paraplegia 16 (complicated, X-linked recessive) ; Symbol:SPG16 ; xref: HGNC:14260 ; xref: OMIM:300266]
Autosomal dominant spastic paraplegia type 17
Distal hereditary motor neuropathy type 5B
Spastic paraplegia-amyotrophy of hands and feet
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998
Ataxia - diabetes - goiter - gonadal insufficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227
Autosomal dominant spastic paraplegia type 19
Gene [OrphaNum:180213 ; Name:Spastic paraplegia 19 (autosomal dominant) ; Symbol:SPG19 ; xref: HGNC:16706 ; xref: OMIM:607152]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999
Autosomal recessive spastic paraplegia type 20
Childhood-onset spastic paraparesis - distal muscle wasting
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000
Gene [OrphaNum:119811 ; Name:Spastic paraplegia 20 (Troyer syndrome) ; Symbol:SPG20 ; xref: GENATLAS:SPG20 ; xref: HGNC:18514 ; xref: OMIM:607111 ; xref: UNIPROTKB/SWISSPROT:Q8N0X7 ; xref: ENSEMBL:ENSG00000133104]
Autosomal recessive spastic paraplegia type 21
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001
Gene [OrphaNum:119815 ; Name:Spastic paraplegia 21 (autosomal recessive, Mast syndrome) ; Symbol:SPG21 ; xref: GENATLAS:SPG21 ; xref: HGNC:20373 ; xref: OMIM:608181 ; xref: UNIPROTKB/SWISSPROT:Q9NZD8 ; xref: ENSEMBL:ENSG00000090487]
Autosomal recessive spastic paraplegia type 23
Spastic paraparesis - vitiligo - premature graying - characteristic facies
Gene [OrphaNum:180301 ; Name:Spastic paraplegia 23 (autosomal recessive) ; Symbol:SPG23 ; xref: HGNC:21340 ; xref: OMIM:270750]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003
Autosomal recessive spastic paraplegia type 24
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004
Gene [OrphaNum:180270 ; Name:Spastic paraplegia 24 (autosomal recessive) ; Symbol:SPG24 ; xref: HGNC:22993 ; xref: OMIM:607584]
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia - disc herniation
Gene [OrphaNum:180307 ; Name:Spastic paraplegia 25 (autosomal recessive, with disc herniation) ; Symbol:SPG25 ; xref: HGNC:25855 ; xref: OMIM:608220]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005
Autosomal recessive spastic paraplegia type 26
Gene [OrphaNum:180309 ; Name:Spastic paraplegia 26 ; Symbol:SPG26 ; xref: HGNC:22494 ; xref: OMIM:609195]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006
Autosomal recessive spastic paraplegia type 27
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007
Gene [OrphaNum:180316 ; Name:Spastic paraplegia 27 (autosomal recessive) ; Symbol:SPG27 ; xref: HGNC:26071 ; xref: OMIM:609041]
Autosomal recessive spastic paraplegia type 28
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008
Gene [OrphaNum:180273 ; Name:Spastic paraplegia 28 (autosomal recessive) ; Symbol:SPG28 ; xref: HGNC:13682 ; xref: OMIM:609340]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228
Autosomal dominant spastic paraplegia type 29
Gene [OrphaNum:180232 ; Name:Spastic paraplegia 29 (autosomal dominant) ; Symbol:SPG29 ; xref: HGNC:30161 ; xref: OMIM:609727]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009
Autosomal recessive spastic paraplegia type 30
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010
Autosomal dominant spastic paraplegia type 31
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011
Gene [OrphaNum:118260 ; Name:Receptor accessory protein 1 ; Symbol:REEP1 ; xref: GENATLAS:REEP1 ; xref: HGNC:25786 ; xref: OMIM:609139 ; xref: UNIPROTKB/SWISSPROT:Q9H902 ; xref: ENSEMBL:ENSG00000068615]
Gene [OrphaNum:160008 ; Name:A kinase (PRKA) anchor protein (yotiao) 9 ; Symbol:AKAP9 ; xref: GENATLAS:AKAP9 ; xref: HGNC:379 ; xref: OMIM:604001 ; xref: UNIPROTKB/SWISSPROT:Q9Y6Y2 ; xref: REACTOME:Q9Y6Y2 ; xref: ENSEMBL:ENSG00000127914]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016
Gene [OrphaNum:122770 ; Name:Potassium voltage-gated channel, Isk-related family, member 2 ; Symbol:KCNE2 ; xref: GENATLAS:KCNE2 ; xref: HGNC:6242 ; xref: OMIM:603796 ; xref: UNIPROTKB/SWISSPROT:Q9Y6J6 ; xref: ENSEMBL:ENSG00000159197]
Gene [OrphaNum:218358 ; Name:Syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) ; Symbol:SNTA1 ; xref: ENSEMBL:ENSG00000101400 ; xref: GENATLAS:SNTA1 ; xref: HGNC:11167 ; xref: OMIM:601017 ; xref: UNIPROTKB/SWISSPROT:Q13424]
Gene [OrphaNum:235181 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 5 ; Symbol:KCNJ5 ; xref: IUPHAR:437 ; xref: ENSEMBL:ENSG00000120457 ; xref: REACTOME:P48544 ; xref: HGNC:6266 ; xref: GENATLAS:KCNJ5 ; xref: OMIM:600734 ; xref: UNIPROTKB/SWISSPROT:P48544]
Gene [OrphaNum:121360 ; Name:Ankyrin 2, neuronal ; Symbol:ANK2 ; xref: GENATLAS:ANK2 ; xref: HGNC:493 ; xref: OMIM:106410 ; xref: UNIPROTKB/SWISSPROT:Q01484 ; xref: REACTOME:Q01484 ; xref: ENSEMBL:ENSG00000145362]
Gene [OrphaNum:301126 ; Name:Asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) ; Symbol:ALG10 ; xref: HGNC:23162 ; xref: OMIM:603313 ; xref: GENATLAS:ALG10 ; xref: UNIPROTKB/SWISSPROT:Q5BKT4]
Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524]
Gene [OrphaNum:160018 ; Name:Sodium channel, voltage-gated, type IV, beta ; Symbol:SCN4B ; xref: GENATLAS:SCN4B ; xref: HGNC:10592 ; xref: OMIM:608256 ; xref: UNIPROTKB/SWISSPROT:Q8IWT1 ; xref: ENSEMBL:ENSG00000177098]
Gene [OrphaNum:289008 ; Name:Nitric oxide synthase 1 (neuronal) adaptor protein ; Symbol:NOS1AP ; xref: HGNC:16859 ; xref: OMIM:605551 ; xref: GENATLAS:NOS1AP ; xref: UNIPROTKB/SWISSPROT:O75052 ; xref: ENSEMBL:ENSG00000198929]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101022
Gene [OrphaNum:183893 ; Name:Transaldolase 1 ; Symbol:TALDO1 ; xref: REACTOME:P37837 ; xref: ENSEMBL:ENSG00000177156 ; xref: GENATLAS:TALDO1 ; xref: HGNC:11559 ; xref: OMIM:602063 ; xref: UNIPROTKB/SWISSPROT:P37837]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028
Congenital intrauterine infection-like syndrome
Microcephaly - intracranial calcification - intellectual deficit
Gene [OrphaNum:239959 ; Name:Occludin ; Symbol:OCLN ; xref: ENSEMBL:ENSG00000197822 ; xref: REACTOME:Q16625 ; xref: GENATLAS:OCLN ; xref: HGNC:8104 ; xref: UNIPROTKB/SWISSPROT:Q16625 ; xref: OMIM:602876]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030
Leshima-Koeda-Inagaki syndrome - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101031
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101033
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101036
Female restricted epilepsy with intellectual deficit
Familial epilepsy and mental retardation limited to females
Gene [OrphaNum:168339 ; Name:Protocadherin 19 ; Symbol:PCDH19 ; xref: GENATLAS:PCDH19 ; xref: HGNC:14270 ; xref: OMIM:300460 ; xref: UNIPROTKB/SWISSPROT:Q8TAB3 ; xref: ENSEMBL:ENSG00000165194]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101042
Autosomal dominant lateral temporal lobe epilepsy
Gene [OrphaNum:123042 ; Name:Leucine-rich, glioma inactivated 1 ; Symbol:LGI1 ; xref: GENATLAS:LGI1 ; xref: HGNC:6572 ; xref: OMIM:604619 ; xref: UNIPROTKB/SWISSPROT:O95970 ; xref: ENSEMBL:ENSG00000108231]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046
Hypertrichosis - atrophic skin - ectropion - macrostomia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231
Familial hypocalciuric hypercalcemia type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049
Familial hypocalciuric hypercalcemia type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101052
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063
Gene [OrphaNum:121034 ; Name:Decorin ; Symbol:DCN ; xref: GENATLAS:DCN ; xref: HGNC:2705 ; xref: OMIM:125255 ; xref: UNIPROTKB/SWISSPROT:P07585 ; xref: ENSEMBL:ENSG00000011465]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Gene [OrphaNum:291802 ; Name:Receptor-interacting serine-threonine kinase 4 ; Symbol:RIPK4 ; xref: HGNC:496 ; xref: OMIM:605706 ; xref: GENATLAS:RIPK4 ; xref: UNIPROTKB/SWISSPROT:P57078 ; xref: ENSEMBL:ENSG00000183421]
Gene [OrphaNum:122266 ; Name:G protein-coupled receptor 56 ; Symbol:GPR56 ; xref: GENATLAS:GPR56 ; xref: HGNC:4512 ; xref: OMIM:604110 ; xref: UNIPROTKB/SWISSPROT:Q9Y653 ; xref: IUPHAR:186 ; xref: ENSEMBL:ENSG00000205336]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071
X-linked Charcot-Marie-Tooth disease type 1
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075
Gene [OrphaNum:122124 ; Name:Gap junction protein, beta 1, 32kDa ; Symbol:GJB1 ; xref: GENATLAS:GJB1 ; xref: HGNC:4283 ; xref: OMIM:304040 ; xref: UNIPROTKB/SWISSPROT:P08034 ; xref: ENSEMBL:ENSG00000169562 ; xref: REACTOME:P08034]
X-linked Charcot-Marie-Tooth disease type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076
X-linked Charcot-Marie-Tooth disease type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077
X-linked Charcot-Marie-Tooth disease type 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083
Gene [OrphaNum:123070 ; Name:Lipopolysaccharide-induced TNF factor ; Symbol:LITAF ; xref: GENATLAS:LITAF ; xref: HGNC:16841 ; xref: OMIM:603795 ; xref: UNIPROTKB/SWISSPROT:Q99732 ; xref: ENSEMBL:ENSG00000189067]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to CD40L deficiency
Gene [OrphaNum:119249 ; Name:CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome) ; Symbol:CD40LG ; xref: GENATLAS:CD40LG ; xref: HGNC:11935 ; xref: OMIM:300386 ; xref: UNIPROTKB/SWISSPROT:P29965 ; xref: ENSEMBL:ENSG00000102245 ; xref: REACTOME:P29965]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15
Activation-induced cytidine deaminase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089
Gene [OrphaNum:119554 ; Name:Activation-induced cytidine deaminase ; Symbol:AICDA ; xref: GENATLAS:AICDA ; xref: HGNC:13203 ; xref: OMIM:605257 ; xref: UNIPROTKB/SWISSPROT:Q9GZX7 ; xref: ENSEMBL:ENSG00000111732]
Hyper-IgM syndrome due to CD40 deficiency
Gene [OrphaNum:119244 ; Name:CD40 molecule, TNF receptor superfamily member 5 ; Symbol:CD40 ; xref: UNIPROTKB/SWISSPROT:P25942 ; xref: GENATLAS:CD40 ; xref: HGNC:11919 ; xref: OMIM:109535 ; xref: ENSEMBL:ENSG00000101017 ; xref: REACTOME:P25942]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N glycosylase
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092
Gene [OrphaNum:120421 ; Name:Uracil-DNA glycosylase ; Symbol:UNG ; xref: GENATLAS:UNG ; xref: HGNC:12572 ; xref: OMIM:191525 ; xref: UNIPROTKB/SWISSPROT:P13051 ; xref: ENSEMBL:ENSG00000076248]
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097
Gene [OrphaNum:121760 ; Name:Fibrillin 2 (congenital contractural arachnodactyly) ; Symbol:FBN2 ; xref: GENATLAS:FBN2 ; xref: HGNC:3604 ; xref: OMIM:612570 ; xref: UNIPROTKB/SWISSPROT:P35556 ; xref: ENSEMBL:ENSG00000138829]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101
Gene [OrphaNum:167742 ; Name:Mediator complex subunit 25 ; Symbol:MED25 ; xref: GENATLAS:MED25 ; xref: HGNC:28845 ; xref: OMIM:610197 ; xref: REACTOME:Q71SY5 ; xref: ENSEMBL:ENSG00000104973 ; xref: UNIPROTKB/SWISSPROT:Q71SY5]
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101107
Gene [OrphaNum:212592 ; Name:Spinocerebellar ataxia 22 ; Symbol:SCA22 ; xref: HGNC:17320]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108
Gene [OrphaNum:212594 ; Name:Prodynorphin ; Symbol:PDYN ; xref: ENSEMBL:ENSG00000101327 ; xref: REACTOME:P01213 ; xref: UNIPROTKB/SWISSPROT:P01213 ; xref: OMIM:131340 ; xref: GENATLAS:PDYN ; xref: HGNC:8820]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114
Gene [OrphaNum:212604 ; Name:AFG3 ATPase family gene 3-like 2 (yeast) ; Symbol:AFG3L2 ; xref: ENSEMBL:ENSG00000141385 ; xref: HGNC:315 ; xref: GENATLAS:AFG3L2 ; xref: OMIM:604581 ; xref: UNIPROTKB/SWISSPROT:Q9Y4W6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109
Gene [OrphaNum:212610 ; Name:Spinocerebellar ataxia 20 ; Symbol:SCA20 ; xref: HGNC:17204 ; xref: OMIM:608687]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110
Gene [OrphaNum:212612 ; Name:Spinocerebellar ataxia 25 ; Symbol:SCA25 ; xref: HGNC:20684 ; xref: OMIM:608703]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112
Gene [OrphaNum:212614 ; Name:Spinocerebellar ataxia 26 ; Symbol:SCA26 ; xref: OMIM:609306 ; xref: HGNC:31097]
Autosomal recessive dopa-responsive dystonia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150
Gene [OrphaNum:120086 ; Name:Tyrosine hydroxylase ; Symbol:TH ; xref: UNIPROTKB/SWISSPROT:P07101 ; xref: GENATLAS:TH ; xref: HGNC:11782 ; xref: OMIM:191290 ; xref: REACTOME:P07101 ; xref: ENSEMBL:ENSG00000180176]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101187
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351
Intellectual deficit - short stature - wedge shaped epiphyses of knees
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1240
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101435
Rare intellectual deficit without developmental anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101934
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101940
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101957
Genetic chronic primary adrenal insufficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101960
Friedreich-like ataxia with selective vitamin E deficiency
Gene [OrphaNum:120334 ; Name:Tocopherol (alpha) transfer protein ; Symbol:TTPA ; xref: ENSEMBL:ENSG00000137561 ; xref: GENATLAS:TTPA ; xref: HGNC:12404 ; xref: OMIM:600415 ; xref: UNIPROTKB/SWISSPROT:P49638]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101972
Immunodeficiency predominantly affecting antibody production
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101977
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101987
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101988
Immunodeficiency due to a complement cascade protein anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101992
Blepharonasofacial malformation syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101997
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102006
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009
Other syndrome with lissencephaly as a major feature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102012
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102013
Autosomal dominant limb-girdle muscular dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102014
Autosomal recessive limb-girdle muscular dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102015
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102020
Blepharophimosis - radioulnar synostosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1256
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102284
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102285
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102373
Blepharoptosis - myopia - ectopia lentis
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259
Chronic diarrhea due to glucoamylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907
Gene [OrphaNum:178801 ; Name:Serine peptidase inhibitor, Kunitz type, 2 ; Symbol:SPINT2 ; xref: GENATLAS:SPINT2 ; xref: HGNC:11247 ; xref: OMIM:605124 ; xref: UNIPROTKB/SWISSPROT:O43291 ; xref: ENSEMBL:ENSG00000167642]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908
Diarrhea-vomiting due to trehalase deficiency
Gene [OrphaNum:158077 ; Name:Trehalase (brush-border membrane glycoprotein) ; Symbol:TREH ; xref: GENATLAS:TREH ; xref: HGNC:12266 ; xref: OMIM:275360 ; xref: UNIPROTKB/SWISSPROT:O43280 ; xref: REACTOME:O43280 ; xref: ENSEMBL:ENSG00000118094]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909
Congenital enterocyte heparan sulfate deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910
Epithelio-exfoliative colitis - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103912
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103916
A rare autoimmune disorder that usually affects children. It is associated with the presence of circulating autoantibodies against the gut epithelial cells. It is manifested with malabsorption syndrome.
Encephalopathy - intracerebral calcification - retinal degeneration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103917
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003
Intestinal disease due to vitamin absorption anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104004
Intestinal disease due to fat malabsorption
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104005
Congenital intestinal disease due to an enzymatic defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104006
Congenital enteropathy involving intestinal mucosa development
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Gene [OrphaNum:119523 ; Name:Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) ; Symbol:AGL ; xref: ENSEMBL:ENSG00000162688 ; xref: GENATLAS:AGL ; xref: HGNC:321 ; xref: OMIM:610860 ; xref: UNIPROTKB/SWISSPROT:P35573 ; xref: REACTOME:P35573]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101
Gene [OrphaNum:121482 ; Name:Atrophin 1 ; Symbol:ATN1 ; xref: GENATLAS:ATN1 ; xref: HGNC:3033 ; xref: OMIM:607462 ; xref: UNIPROTKB/SWISSPROT:P54259 ; xref: ENSEMBL:ENSG00000111676]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010
Metabolic disease with intestinal involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104013
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077
Unclassified intestinal pseudoobstruction
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108959
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108961
Nonsyndromic gastroduodenal malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108963
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108965
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108971
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108973
Mental deficiency - epilepsy - endocrine disorders
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127
Gene [OrphaNum:117602 ; Name:PHD finger protein 6 ; Symbol:PHF6 ; xref: GENATLAS:PHF6 ; xref: HGNC:18145 ; xref: OMIM:300414 ; xref: UNIPROTKB/SWISSPROT:Q8IWS0 ; xref: ENSEMBL:ENSG00000156531]
External or internal nonsyndromic genital malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108981
External or internal syndromic genital malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108983
Nonsyndromic developmental defect of the eye
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108985
Syndromic developmental defect of the eye
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108987
Nonsyndromic respiratory or mediastinal malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108993
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109007
Syndrome with limb malformations as a major feature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109009
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109011
Dermato-cardio-skeletal syndrome, Borrone type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1266
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117573
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270
Gene [OrphaNum:201553 ; Name:EMG1 nucleolar protein homolog (S. cerevisiae) ; Symbol:EMG1 ; xref: ENSEMBL:ENSG00000126749 ; xref: GENATLAS:EMG1 ; xref: HGNC:16912 ; xref: OMIM:611531 ; xref: UNIPROTKB/SWISSPROT:Q92979]
Gene [OrphaNum:120814 ; Name:CREB binding protein (Rubinstein-Taybi syndrome) ; Symbol:CREBBP ; xref: ENSEMBL:ENSG00000005339 ; xref: REACTOME:Q92793 ; xref: GENATLAS:CREBBP ; xref: HGNC:2348 ; xref: OMIM:600140 ; xref: UNIPROTKB/SWISSPROT:Q92793]
Gene [OrphaNum:121560 ; Name:E1A binding protein p300 ; Symbol:EP300 ; xref: HGNC:3373 ; xref: OMIM:602700 ; xref: UNIPROTKB/SWISSPROT:Q09472 ; xref: ENSEMBL:ENSG00000100393 ; xref: REACTOME:Q09472 ; xref: GENATLAS:EP300]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278
Brachymorphism - onychodysplasia - dysphalangism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293
Brachytelephalangy - dysmorphism - Kallmann syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295
Branchial dysplasia - intellectual deficit - inguinal hernia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297
Gene [OrphaNum:159950 ; Name:Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) ; Symbol:TFAP2A ; xref: ENSEMBL:ENSG00000137203 ; xref: GENATLAS:TFAP2A ; xref: HGNC:11742 ; xref: OMIM:107580 ; xref: UNIPROTKB/SWISSPROT:P05549]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked dominant;
Autosomal dominant popliteal pterygium syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300
Gene [OrphaNum:122684 ; Name:Interferon regulatory factor 6 ; Symbol:IRF6 ; xref: REACTOME:O14896 ; xref: GENATLAS:IRF6 ; xref: HGNC:6121 ; xref: OMIM:607199 ; xref: UNIPROTKB/SWISSPROT:O14896 ; xref: ENSEMBL:ENSG00000117595]
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
Microcephaly - intellectual deficit - tracheoesophageal fistula
Microcephaly - oculo-digito-esophageal-duodenal syndrome
Oculo-digito-esophageal-duodenal syndrome
Gene [OrphaNum:123600 ; Name:V-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) ; Symbol:MYCN ; xref: GENATLAS:MYCN ; xref: HGNC:7559 ; xref: OMIM:164840 ; xref: UNIPROTKB/SWISSPROT:P04198 ; xref: ENSEMBL:ENSG00000134323]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Gene [OrphaNum:285348 ; Name:miR-17-92 Cluster Host Gene (non-protein coding) ; Symbol:MIR17HG ; xref: GENATLAS:MIR17HG ; xref: HGNC:23564 ; xref: UNIPROTKB/SWISSPROT:Q75NE6 ; xref: OMIM:609415 ; xref: ENSEMBL:ENSG00000215417]
Distal limb deficiencies - micrognathia syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321
Camptodactyly - joint contractures - facial skeletal defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323
Camptodactyly syndrome, Guadalajara type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Gene [OrphaNum:118411 ; Name:Retinoschisis (X-linked, juvenile) 1 ; Symbol:RS1 ; xref: GENATLAS:RS1 ; xref: HGNC:10457 ; xref: UNIPROTKB/SWISSPROT:O15537 ; xref: OMIM:300839 ; xref: ENSEMBL:ENSG00000102104]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792
Camptodactyly syndrome, Guadalajara type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328
Gene [OrphaNum:120047 ; Name:Transforming growth factor, beta 1 ; Symbol:TGFB1 ; xref: GENATLAS:TGFB1 ; xref: HGNC:11766 ; xref: OMIM:190180 ; xref: UNIPROTKB/SWISSPROT:P01137 ; xref: REACTOME:P01137 ; xref: ENSEMBL:ENSG00000105329]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856
Gene [OrphaNum:119660 ; Name:Anti-Mullerian hormone receptor, type II ; Symbol:AMHR2 ; xref: GENATLAS:AMHR2 ; xref: HGNC:465 ; xref: OMIM:600956 ; xref: UNIPROTKB/SWISSPROT:Q16671 ; xref: ENSEMBL:ENSG00000135409]
Gene [OrphaNum:119657 ; Name:Anti-Mullerian hormone ; Symbol:AMH ; xref: GENATLAS:AMH ; xref: HGNC:464 ; xref: OMIM:600957 ; xref: UNIPROTKB/SWISSPROT:P03971 ; xref: ENSEMBL:ENSG00000104899]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Inheritance- X-linked recessive;
Hyperkeratosis - hyperpigmentation syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336
Heart defect - tongue hamartoma - polysyndactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1339
Gene [OrphaNum:122879 ; Name:V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog ; Symbol:KRAS ; xref: GENATLAS:KRAS ; xref: HGNC:6407 ; xref: OMIM:190070 ; xref: UNIPROTKB/SWISSPROT:P01116 ; xref: ENSEMBL:ENSG00000133703 ; xref: REACTOME:P01116]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340
Gene [OrphaNum:123135 ; Name:Mitogen-activated protein kinase kinase 1 ; Symbol:MAP2K1 ; xref: REACTOME:Q02750 ; xref: GENATLAS:MAP2K1 ; xref: HGNC:6840 ; xref: OMIM:176872 ; xref: UNIPROTKB/SWISSPROT:Q02750 ; xref: ENSEMBL:ENSG00000169032]
Gene [OrphaNum:123140 ; Name:Mitogen-activated protein kinase kinase 2 ; Symbol:MAP2K2 ; xref: GENATLAS:MAP2K2 ; xref: HGNC:6842 ; xref: OMIM:601263 ; xref: UNIPROTKB/SWISSPROT:P36507 ; xref: REACTOME:P36507 ; xref: ENSEMBL:ENSG00000126934]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342
Cardiomyopathy - cataract - hip spine disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350
Atrioventricular defect - blepharophimosis -radial defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352
Heart defect - round face - congenital developmental delay
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361
X-linked deafness mixed with perilymph gusher
X-linked deafness mixed with perilymphatic gusher
X-linked mixed conductive and neurosensory deafness
X-linked mixed conductive and neurosensory hearing loss
X-linked mixed conductive and sensorineural deafness
X-linked mixed conductive and sensorineural hearing loss
Gene [OrphaNum:117952 ; Name:POU class 3 homeobox 4 ; Symbol:POU3F4 ; xref: HGNC:9217 ; xref: OMIM:300039 ; xref: UNIPROTKB/SWISSPROT:P49335 ; xref: GENATLAS:POU3F4 ; xref: ENSEMBL:ENSG00000196767]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=383
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Palmoplantar keratoderma and congenital alopecia, Wallis type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368
Cataract - aberrant oral frenula - growth delay
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373
Gene [OrphaNum:159821 ; Name:Prominin 1 ; Symbol:PROM1 ; xref: ENSEMBL:ENSG00000007062 ; xref: GENATLAS:PROM1 ; xref: HGNC:9454 ; xref: OMIM:604365 ; xref: UNIPROTKB/SWISSPROT:O43490]
Gene [OrphaNum:117623 ; Name:ATP-binding cassette, sub-family A (ABC1), member 4 ; Symbol:ABCA4 ; xref: GENATLAS:ABCA4 ; xref: HGNC:34 ; xref: OMIM:601691 ; xref: UNIPROTKB/SWISSPROT:P78363 ; xref: REACTOME:P78363 ; xref: ENSEMBL:ENSG00000198691]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:121522 ; Name:Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 ; Symbol:ELOVL4 ; xref: UNIPROTKB/SWISSPROT:Q9GZR5 ; xref: GENATLAS:ELOVL4 ; xref: HGNC:14415 ; xref: OMIM:605512 ; xref: REACTOME:Q9GZR5 ; xref: ENSEMBL:ENSG00000118402]
Hereditary hyperferritinemia with congenital cataracts
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Gene [OrphaNum:121953 ; Name:Ferritin, light polypeptide ; Symbol:FTL ; xref: GENATLAS:FTL ; xref: HGNC:3999 ; xref: OMIM:134790 ; xref: UNIPROTKB/SWISSPROT:P02792 ; xref: ENSEMBL:ENSG00000087086 ; xref: REACTOME:P02792]
Cataract - hypertrichosis - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1376
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380
Cataract - intellectual deficit - anal atresia - urinary defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381
Cataract - intellectual deficit - hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387
Gene [OrphaNum:118200 ; Name:RAB3 GTPase activating protein subunit 2 (non-catalytic) ; Symbol:RAB3GAP2 ; xref: GENATLAS:RAB3GAP2 ; xref: HGNC:17168 ; xref: OMIM:609275 ; xref: UNIPROTKB/SWISSPROT:Q9H2M9 ; xref: ENSEMBL:ENSG00000118873]
Palatodigital syndrome, type Catel-Manzke
Pierre robin sequence - hyperphalangy - clinodactyly
Pierre robin syndrome - hyperphalangy - clinodactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388
Cortical blindness - intellectual deficit - polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389
Night blindness - skeletal anomalies - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367
Gene [OrphaNum:122043 ; Name:Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) ; Symbol:GBE1 ; xref: GENATLAS:GBE1 ; xref: HGNC:4180 ; xref: OMIM:607839 ; xref: UNIPROTKB/SWISSPROT:Q04446 ; xref: REACTOME:Q04446 ; xref: ENSEMBL:ENSG00000114480]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1396
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397
Ketoaciduria - intellectual deficit - ataxia - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399
Curly hair - ankyloblepharon - nail dysplasia syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401
Hair defect - photosensitivity - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1408
Woolly hair - hypotrichosis - everted lower lip - outstanding ears
Wooly hair - hypotrichosis - everted lower lip - outstanding ears
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1409
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412
Gene [OrphaNum:123854 ; Name:Noggin ; Symbol:NOG ; xref: GENATLAS:NOG ; xref: HGNC:7866 ; xref: OMIM:602991 ; xref: UNIPROTKB/SWISSPROT:Q13253 ; xref: ENSEMBL:ENSG00000183691 ; xref: REACTOME:Q13253]
Calcium pyrophosphate deposition disease
Calcium pyrophosphate dihydrate crystal deposition disease
Gene [OrphaNum:121363 ; Name:Ankylosis, progressive homolog (mouse) ; Symbol:ANKH ; xref: GENATLAS:ANKH ; xref: HGNC:15492 ; xref: OMIM:605145 ; xref: UNIPROTKB/SWISSPROT:Q9HCJ1 ; xref: ENSEMBL:ENSG00000154122]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1420
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1421
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436
Metaphyseal chondrodysplasia, Schmid type
Gene [OrphaNum:120688 ; Name:Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia) ; Symbol:COL10A1 ; xref: GENATLAS:COL10A1 ; xref: HGNC:2185 ; xref: OMIM:120110 ; xref: UNIPROTKB/SWISSPROT:Q03692 ; xref: ENSEMBL:ENSG00000123500]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425
Gene [OrphaNum:218036 ; Name:Calcium activated nucleotidase 1 ; Symbol:CANT1 ; xref: ENSEMBL:ENSG00000171302 ; xref: HGNC:19721 ; xref: GENATLAS:CANT1 ; xref: OMIM:613165 ; xref: UNIPROTKB/SWISSPROT:Q8WVQ1]
Hydrops - ectopic calcification - motheaten
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426
Gene [OrphaNum:123003 ; Name:Lamin B receptor ; Symbol:LBR ; xref: GENATLAS:LBR ; xref: HGNC:6518 ; xref: OMIM:600024 ; xref: UNIPROTKB/SWISSPROT:Q14739 ; xref: ENSEMBL:ENSG00000143815 ; xref: REACTOME:Q14739]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435
Skeletal dysplasia - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436
Hydrocephalus with stenosis of aqueduct of Sylvius
Gene [OrphaNum:122948 ; Name:L1 cell adhesion molecule ; Symbol:L1CAM ; xref: GENATLAS:L1CAM ; xref: HGNC:6470 ; xref: OMIM:308840 ; xref: UNIPROTKB/SWISSPROT:P32004 ; xref: ENSEMBL:ENSG00000198910 ; xref: REACTOME:P32004]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453
Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
Joubert syndrome with congenital hepatic fibrosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454
Gene [OrphaNum:140541 ; Name:RPGRIP1-like ; Symbol:RPGRIP1L ; xref: UNIPROTKB/SWISSPROT:Q68CZ1 ; xref: GENATLAS:RPGRIP1L ; xref: HGNC:29168 ; xref: OMIM:610937 ; xref: ENSEMBL:ENSG00000103494]
Gene [OrphaNum:159539 ; Name:Coiled-coil and C2 domain containing 2A ; Symbol:CC2D2A ; xref: GENATLAS:CC2D2A ; xref: HGNC:29253 ; xref: OMIM:612013 ; xref: UNIPROTKB/SWISSPROT:Q9P2K1 ; xref: ENSEMBL:ENSG00000048342]
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190
Cerebro-oculo-dento-auriculo-skeletal syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458
Gene [OrphaNum:139163 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) ; Symbol:ERCC1 ; xref: GENATLAS:ERCC1 ; xref: HGNC:3433 ; xref: OMIM:126380 ; xref: UNIPROTKB/SWISSPROT:P07992 ; xref: REACTOME:P07992 ; xref: ENSEMBL:ENSG00000012061]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
Gene [OrphaNum:132271 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 5 ; Symbol:ERCC5 ; xref: GENATLAS:ERCC5 ; xref: HGNC:3437 ; xref: OMIM:133530 ; xref: UNIPROTKB/SWISSPROT:P28715 ; xref: ENSEMBL:ENSG00000134899 ; xref: REACTOME:P28715]
Gene [OrphaNum:121590 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) ; Symbol:ERCC2 ; xref: GENATLAS:ERCC2 ; xref: HGNC:3434 ; xref: OMIM:126340 ; xref: UNIPROTKB/SWISSPROT:P18074 ; xref: REACTOME:P18074 ; xref: ENSEMBL:ENSG00000104884]
Coloboma of macula - brachydactyly type B
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471
Contractures - ectodermal dysplasia - cleft lip/palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Lethal congenital contracture syndrome type 1
Multiple contracture syndrome, Finnish type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486
Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487
Corneal dystrophy with progressive deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490
Corpus callosum agenesis - cataract - immunodeficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493
Intellectual deficit - hypoplastic corpus callosum - preauricular tag
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495
X-linked complicated corpus callosum dysgenesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497
Gene [OrphaNum:159367 ; Name:Sprouty-related, EVH1 domain containing 1 ; Symbol:SPRED1 ; xref: GENATLAS:SPRED1 ; xref: HGNC:20249 ; xref: OMIM:609291 ; xref: UNIPROTKB/SWISSPROT:Q7Z699 ; xref: ENSEMBL:ENSG00000166068]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608
Intractable diarrhea - choanal atresia - eye anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622
Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency
Gene [OrphaNum:160283 ; Name:Glycogen synthase 1 (muscle) ; Symbol:GYS1 ; xref: GENATLAS:GYS1 ; xref: HGNC:4706 ; xref: OMIM:138570 ; xref: UNIPROTKB/SWISSPROT:P13807 ; xref: ENSEMBL:ENSG00000104812 ; xref: REACTOME:P13807]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628
Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631
Overgrowth - macrocephaly - facial dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634
Leukoencephalopathy - ataxia - hypodontia - hypomyelination
Ataxia - delayed dentition - hypomyelination
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639
Gene [OrphaNum:123547 ; Name:Mitochondrially encoded NADH dehydrogenase 3 ; Symbol:MT-ND3 ; xref: ENSEMBL:ENSG00000198840 ; xref: GENATLAS:MT-ND3 ; xref: HGNC:7458 ; xref: OMIM:516002 ; xref: UNIPROTKB/SWISSPROT:P03897 ; xref: REACTOME:P03897]
Gene [OrphaNum:123542 ; Name:Mitochondrially encoded NADH dehydrogenase 2 ; Symbol:MT-ND2 ; xref: ENSEMBL:ENSG00000198763 ; xref: GENATLAS:MT-ND2 ; xref: HGNC:7456 ; xref: OMIM:516001 ; xref: UNIPROTKB/SWISSPROT:P03891 ; xref: REACTOME:P03891]
Gene [OrphaNum:123557 ; Name:Mitochondrially encoded NADH dehydrogenase 4L ; Symbol:MT-ND4L ; xref: GENATLAS:MT-ND4L ; xref: HGNC:7460 ; xref: OMIM:516004 ; xref: UNIPROTKB/SWISSPROT:P03901 ; xref: ENSEMBL:ENSG00000212907 ; xref: REACTOME:P03901]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104
Gene [OrphaNum:123562 ; Name:Mitochondrially encoded NADH dehydrogenase 5 ; Symbol:MT-ND5 ; xref: GENATLAS:MT-ND5 ; xref: HGNC:7461 ; xref: OMIM:516005 ; xref: UNIPROTKB/SWISSPROT:P03915 ; xref: ENSEMBL:ENSG00000198786 ; xref: REACTOME:P03915]
Gene [OrphaNum:123508 ; Name:Mitochondrially encoded ATP synthase 6 ; Symbol:MT-ATP6 ; xref: GENATLAS:MT-ATP6 ; xref: HGNC:7414 ; xref: OMIM:516060 ; xref: UNIPROTKB/SWISSPROT:P00846 ; xref: ENSEMBL:ENSG00000198899 ; xref: REACTOME:P00846]
Gene [OrphaNum:123524 ; Name:Mitochondrially encoded cytochrome b ; Symbol:MT-CYB ; xref: REACTOME:P00156 ; xref: GENATLAS:MT-CYB ; xref: HGNC:7427 ; xref: OMIM:516020 ; xref: UNIPROTKB/SWISSPROT:P00156 ; xref: ENSEMBL:ENSG00000198727]
prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Mitochondrial inheritance;
Gene [OrphaNum:123552 ; Name:Mitochondrially encoded NADH dehydrogenase 4 ; Symbol:MT-ND4 ; xref: ENSEMBL:ENSG00000198886 ; xref: GENATLAS:MT-ND4 ; xref: HGNC:7459 ; xref: OMIM:516003 ; xref: UNIPROTKB/SWISSPROT:P03905 ; xref: REACTOME:P03905]
Gene [OrphaNum:123567 ; Name:Mitochondrially encoded NADH dehydrogenase 6 ; Symbol:MT-ND6 ; xref: GENATLAS:MT-ND6 ; xref: HGNC:7462 ; xref: OMIM:516006 ; xref: UNIPROTKB/SWISSPROT:P03923 ; xref: ENSEMBL:ENSG00000198695 ; xref: REACTOME:P03923]
Gene [OrphaNum:123537 ; Name:Mitochondrially encoded NADH dehydrogenase 1 ; Symbol:MT-ND1 ; xref: ENSEMBL:ENSG00000198888 ; xref: REACTOME:P03886 ; xref: GENATLAS:MT-ND1 ; xref: HGNC:7455 ; xref: OMIM:516000 ; xref: UNIPROTKB/SWISSPROT:P03886]
Microcephaly - digital anomalies - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137653
Microcephaly - intellectual deficit - phalangeal and neurological anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137658
Capillary malformation-arteriovenous malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Gene [OrphaNum:166715 ; Name:G elongation factor, mitochondrial 1 ; Symbol:GFM1 ; xref: GENATLAS:GFM1 ; xref: HGNC:13780 ; xref: OMIM:606639 ; xref: UNIPROTKB/SWISSPROT:Q96RP9 ; xref: ENSEMBL:ENSG00000168827]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681
Gene [OrphaNum:201252 ; Name:Growth hormone secretagogue receptor ; Symbol:GHSR ; xref: ENSEMBL:ENSG00000121853 ; xref: REACTOME:Q92847 ; xref: IUPHAR:246 ; xref: GENATLAS:GHSR ; xref: HGNC:4267 ; xref: OMIM:601898 ; xref: UNIPROTKB/SWISSPROT:Q92847]
Gene [OrphaNum:122095 ; Name:Growth hormone receptor ; Symbol:GHR ; xref: GENATLAS:GHR ; xref: HGNC:4263 ; xref: OMIM:600946 ; xref: UNIPROTKB/SWISSPROT:P10912 ; xref: ENSEMBL:ENSG00000112964 ; xref: REACTOME:P10912]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137693
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1502
Neurological conditions associated with aminoacylase 1 deficiency
N-acyl-L-amino acid amidohydrolase deficiency
Gene [OrphaNum:159895 ; Name:Aminoacylase 1 ; Symbol:ACY1 ; xref: GENATLAS:ACY1 ; xref: HGNC:177 ; xref: OMIM:104620 ; xref: UNIPROTKB/SWISSPROT:Q03154 ; xref: ENSEMBL:ENSG00000243989]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137763
Metabolic disease involving complex molecules
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137768
Lethal congenital contracture syndrome type 2
Multiple contracture syndrome, Israeli-Bedouin type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776
Gene [OrphaNum:160236 ; Name:v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 ; Symbol:ERBB3 ; xref: GENATLAS:ERBB3 ; xref: HGNC:3431 ; xref: OMIM:190151 ; xref: UNIPROTKB/SWISSPROT:P21860 ; xref: ENSEMBL:ENSG00000065361 ; xref: REACTOME:P21860]
Lethal congenital contracture syndrome type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783
Gene [OrphaNum:160322 ; Name:Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma ; Symbol:PIP5K1C ; xref: GENATLAS:PIP5K1C ; xref: HGNC:8996 ; xref: OMIM:606102 ; xref: UNIPROTKB/SWISSPROT:O60331 ; xref: ENSEMBL:ENSG00000186111 ; xref: REACTOME:O60331]
Intellectual deficit, X-linked - cerebellar hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831
Gene [OrphaNum:159936 ; Name:Oligophrenin 1 ; Symbol:OPHN1 ; xref: GENATLAS:OPHN1 ; xref: HGNC:8148 ; xref: OMIM:300127 ; xref: UNIPROTKB/SWISSPROT:O60890 ; xref: ENSEMBL:ENSG00000079482 ; xref: REACTOME:O60890]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834
Gene [OrphaNum:225343 ; Name:SH3 and PX domains 2B ; Symbol:SH3PXD2B ; xref: ENSEMBL:ENSG00000174705 ; xref: GENATLAS:SH3PXD2B ; xref: HGNC:29242 ; xref: OMIM:613293 ; xref: UNIPROTKB/SWISSPROT:A1X283]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867
Laminopathy with severe metabolic syndrome and myopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137871
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888
Gene [OrphaNum:302920 ; Name:Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 ; Symbol:GNAI3 ; xref: OMIM:139370 ; xref: HGNC:4387 ; xref: GENATLAS:GNAI3 ; xref: UNIPROTKB/SWISSPROT:P08754]
Gene [OrphaNum:302923 ; Name:Phospholipase C, beta 4 ; Symbol:PLCB4 ; xref: HGNC:9059 ; xref: OMIM:600810 ; xref: GENATLAS:PLCB4 ; xref: UNIPROTKB/SWISSPROT:Q15147]
Male infertility associated with large-headed multiflagellar polyploid spermatozoa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893
Gene [OrphaNum:160048 ; Name:Aurora kinase C ; Symbol:AURKC ; xref: GENATLAS:AURKC ; xref: HGNC:11391 ; xref: OMIM:603495 ; xref: UNIPROTKB/SWISSPROT:Q9UQB9 ; xref: ENSEMBL:ENSG00000105146]
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
Gene [OrphaNum:158065 ; Name:Aspartyl-tRNA synthetase 2, mitochondrial ; Symbol:DARS2 ; xref: GENATLAS:DARS2 ; xref: HGNC:25538 ; xref: OMIM:610956 ; xref: UNIPROTKB/SWISSPROT:Q6PI48 ; xref: REACTOME:Q6PI48 ; xref: ENSEMBL:ENSG00000117593]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898
Costovertebral segmentation defect - mesomelia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137902
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905
Hypotonia with lactic acidemia and hyperammonemia
Combined oxidative phosphorylation type 5
Gene [OrphaNum:140069 ; Name:Mitochondrial ribosomal protein S22 ; Symbol:MRPS22 ; xref: GENATLAS:MRPS22 ; xref: HGNC:14508 ; xref: OMIM:605810 ; xref: UNIPROTKB/SWISSPROT:P82650 ; xref: ENSEMBL:ENSG00000175110]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935
Pierre Robin syndrome associated with collagen disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138041
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509
Gene [OrphaNum:119966 ; Name:T-box 4 ; Symbol:TBX4 ; xref: GENATLAS:TBX4 ; xref: HGNC:11603 ; xref: OMIM:601719 ; xref: UNIPROTKB/SWISSPROT:P57082 ; xref: ENSEMBL:ENSG00000121075]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044
Pierre Robin syndrome associated with a chromosomal anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138047
Pierre Robin syndrome associated with branchial archs anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138050
Pierre Robin syndrome associated with bone disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138055
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059
Syndrome associated with Pierre Robin syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138063
Pierre Robin syndrome associated with miscellaneous anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138066
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512
Ornithine carbamoyltransferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664
Gene [OrphaNum:124033 ; Name:Ornithine carbamoyltransferase ; Symbol:OTC ; xref: REACTOME:P00480 ; xref: ENSEMBL:ENSG00000036473 ; xref: GENATLAS:OTC ; xref: HGNC:8512 ; xref: OMIM:300461 ; xref: UNIPROTKB/SWISSPROT:P00480]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513
Gene [OrphaNum:123431 ; Name:Sclerosteosis gene ; Symbol:SOST ; xref: GENATLAS:SOST ; xref: HGNC:13771 ; xref: OMIM:605740 ; xref: UNIPROTKB/SWISSPROT:Q9BQB4 ; xref: ENSEMBL:ENSG00000167941]
Craniodigital syndrome - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514
Gene [OrphaNum:270002 ; Name:intraflagellar transport 43 homolog (Chlamydomonas) ; Symbol:IFT43 ; xref: ENSEMBL:ENSG00000119650 ; xref: HGNC:29669 ; xref: OMIM:614068 ; xref: UNIPROTKB/SWISSPROT:Q96FT9]
Gene [OrphaNum:285468 ; Name:WD Repeat domain 19 ; Symbol:WDR19 ; xref: ENSEMBL:ENSG00000157796 ; xref: OMIM:608151 ; xref: UNIPROTKB/SWISSPROT:Q8NEZ3 ; xref: GENATLAS:WDR19 ; xref: HGNC:18340]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Gene [OrphaNum:235207 ; Name:Intraflagellar transport 122 homolog (Chlamydomonas) ; Symbol:IFT122 ; xref: ENSEMBL:ENSG00000163913 ; xref: GENATLAS:IFT122 ; xref: HGNC:13556 ; xref: OMIM:606045 ; xref: UNIPROTKB/SWISSPROT:Q9HBG6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517
Malformation syndrome of metabolic origin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139009
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139012
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139015
Non-chondrodysplastic malformation syndrome affecting bones
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139018
Malformation syndrome with connective tissue involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139030
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139033
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139039
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Gene [OrphaNum:121305 ; Name:Ephrin-B1 ; Symbol:EFNB1 ; xref: GENATLAS:EFNB1 ; xref: HGNC:3226 ; xref: OMIM:300035 ; xref: UNIPROTKB/SWISSPROT:P98172 ; xref: ENSEMBL:ENSG00000090776]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant;
Craniofrontonasal dysplasia - Poland anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521
Recessive hereditary methemoglobinemia type 1
NADH-cytochrome b5reductase deficiency type 1
Recessive congenital methemoglobinemia type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139373
Gene [OrphaNum:120932 ; Name:Cytochrome b5 reductase 3 ; Symbol:CYB5R3 ; xref: GENATLAS:CYB5R3 ; xref: HGNC:2873 ; xref: UNIPROTKB/SWISSPROT:P00387 ; xref: OMIM:613213 ; xref: REACTOME:P00387 ; xref: ENSEMBL:ENSG00000100243]
Recessive hereditary methemoglobinemia type 2
NADH-cytochrome b5reductase deficiency type 2
Recessive congenital methemoglobinemia type 2
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Young adult; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139380
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396
Gene [OrphaNum:117677 ; Name:ATP-binding cassette, sub-family D (ALD), member 1 ; Symbol:ABCD1 ; xref: HGNC:61 ; xref: OMIM:300371 ; xref: UNIPROTKB/SWISSPROT:P33897 ; xref: GENATLAS:ABCD1 ; xref: ENSEMBL:ENSG00000101986 ; xref: REACTOME:P33897]
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive;
prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399
Encephalopathy due to prosaposin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139426
Eyelid myoclonia with and without absences
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139431
Hypomyelination with atrophy of basal ganglia and cerebellum
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444
Progressive cavitating leukoencephalopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447
Microtia - eye coloboma - imperforation of the nasolacrimal duct
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455
Sex reversion - kidneys, adrenal and lung dysgenesis
Gene [OrphaNum:120540 ; Name:Wingless-type MMTV integration site family, member 4 ; Symbol:WNT4 ; xref: ENSEMBL:ENSG00000162552 ; xref: REACTOME:P56705 ; xref: GENATLAS:WNT4 ; xref: HGNC:12783 ; xref: OMIM:603490 ; xref: UNIPROTKB/SWISSPROT:P56705]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466
Microphthalmia with brain and digit anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471
Gene [OrphaNum:140047 ; Name:Bone morphogenetic protein 4 ; Symbol:BMP4 ; xref: GENATLAS:BMP4 ; xref: HGNC:1071 ; xref: OMIM:112262 ; xref: UNIPROTKB/SWISSPROT:P12644 ; xref: ENSEMBL:ENSG00000125378]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139477
Gene [OrphaNum:242919 ; Name:Steroid 5 alpha-reductase 3 ; Symbol:SRD5A3 ; xref: GENATLAS:SRD5A3 ; xref: ENSEMBL:ENSG00000128039 ; xref: REACTOME:Q9H8P0 ; xref: HGNC:25812 ; xref: OMIM:611715 ; xref: UNIPROTKB/SWISSPROT:Q9H8P0]
Autosomal recessive spastic paraplegia type 39
Spastic paraplegia due to neuropathy target esterase mutation
Gene [OrphaNum:158087 ; Name:Patatin-like phospholipase domain containing 6 ; Symbol:PNPLA6 ; xref: GENATLAS:PNPLA6 ; xref: HGNC:16268 ; xref: OMIM:603197 ; xref: UNIPROTKB/SWISSPROT:Q8IY17 ; xref: ENSEMBL:ENSG00000032444]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia due to coenzyme Q10 deficiency
Autosomal recessive spinocerebellar ataxia-9
Gene [OrphaNum:201526 ; Name:Coenzyme Q9 homolog (S. cerevisiae) ; Symbol:COQ9 ; xref: GENATLAS:COQ9 ; xref: HGNC:25302 ; xref: OMIM:612837 ; xref: UNIPROTKB/SWISSPROT:O75208 ; xref: ENSEMBL:ENSG00000088682]
Gene [OrphaNum:140053 ; Name:AarF domain containing kinase 3 ; Symbol:ADCK3 ; xref: ENSEMBL:ENSG00000163050 ; xref: GENATLAS:CABC1 ; xref: HGNC:16812 ; xref: OMIM:606980 ; xref: UNIPROTKB/SWISSPROT:Q8NI60]
Gene [OrphaNum:205928 ; Name:Prenyl (decaprenyl) diphosphate synthase, subunit 2 ; Symbol:PDSS2 ; xref: ENSEMBL:ENSG00000164494 ; xref: GENATLAS:PDSS2 ; xref: HGNC:23041 ; xref: OMIM:610564 ; xref: UNIPROTKB/SWISSPROT:Q86YH6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485
Gene [OrphaNum:120770 ; Name:Coenzyme Q2 homolog, prenyltransferase (yeast) ; Symbol:COQ2 ; xref: GENATLAS:COQ2 ; xref: HGNC:25223 ; xref: OMIM:609825 ; xref: UNIPROTKB/SWISSPROT:Q96H96 ; xref: ENSEMBL:ENSG00000173085 ; xref: REACTOME:Q96H96]
Autosomal dominant hereditary hemochromatosis
Hemochromatosis due to defect in ferroportin
Gene [OrphaNum:119486 ; Name:Solute carrier family 40 (iron-regulated transporter), member 1 ; Symbol:SLC40A1 ; xref: GENATLAS:SLC40A1 ; xref: HGNC:10909 ; xref: OMIM:604653 ; xref: UNIPROTKB/SWISSPROT:Q9NP59 ; xref: ENSEMBL:ENSG00000138449 ; xref: REACTOME:Q9NP59]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139491
Gene [OrphaNum:168077 ; Name:Hydroxyprostaglandin dehydrogenase 15-(NAD) ; Symbol:HPGD ; xref: GENATLAS:HPGD ; xref: HGNC:5154 ; xref: OMIM:601688 ; xref: UNIPROTKB/SWISSPROT:P15428 ; xref: ENSEMBL:ENSG00000164120]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515
Gene [OrphaNum:159207 ; Name:FIG4 homolog (S. cerevisiae) ; Symbol:FIG4 ; xref: GENATLAS:FIG4 ; xref: HGNC:16873 ; xref: OMIM:609390 ; xref: UNIPROTKB/SWISSPROT:Q92562 ; xref: ENSEMBL:ENSG00000112367]
Distal hereditary motor neuropathy type 1
Autosomal dominant distal juvenile spinal muscular atrophy type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518
Distal hereditary motor neuropathy type 2
Gene [OrphaNum:227387 ; Name:Heat shock 27kDa protein 3 ; Symbol:HSPB3 ; xref: GENATLAS:HSPB3 ; xref: HGNC:5248 ; xref: UNIPROTKB/SWISSPROT:Q12988 ; xref: OMIM:604624 ; xref: ENSEMBL:ENSG00000169271]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525
Distal hereditary motor neuropathy type 5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536
Autosomal recessive distal spinal muscular atrophy type 3
Distal hereditary motor neuropathy type 3 and type 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive;
Distal hereditary motor neuropathy, Jerash type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552
X-linked distal hereditary motor neuropathy
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive;
Gene [OrphaNum:118879 ; Name:ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) ; Symbol:ATP7A ; xref: GENATLAS:ATP7A ; xref: HGNC:869 ; xref: OMIM:300011 ; xref: UNIPROTKB/SWISSPROT:Q04656 ; xref: ENSEMBL:ENSG00000165240 ; xref: REACTOME:Q04656]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557
Craniosynostosis - synostoses - hypertensive nephropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1526
Hereditary sensory and autonomic neuropathy type 1B
HSAN with cough and gastroesophageal reflux
Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564
Hereditary sensory and autonomic neuropathy with deafness and global delay
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583
Gene [OrphaNum:178829 ; Name:Auditory neuropathy, X-linked recessive 1 ; Symbol:AUNX1 ; xref: HGNC:31916 ; xref: OMIM:300614]
Distal hereditary motor neuropathy type 7
Distal spinal muscular atrophy with vocal cord paralysis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589
Gene [OrphaNum:140067 ; Name:Dynactin 1 (p150, glued homolog, Drosophila) ; Symbol:DCTN1 ; xref: GENATLAS:DCTN1 ; xref: HGNC:2711 ; xref: OMIM:601143 ; xref: UNIPROTKB/SWISSPROT:Q14203 ; xref: ENSEMBL:ENSG00000204843 ; xref: REACTOME:Q14203]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140162
Gene [OrphaNum:124090 ; Name:Paired box 3 ; Symbol:PAX3 ; xref: GENATLAS:PAX3 ; xref: HGNC:8617 ; xref: OMIM:606597 ; xref: UNIPROTKB/SWISSPROT:P23760 ; xref: ENSEMBL:ENSG00000135903]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529
Craniosynostosis - alopecia - brain defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532
Primary intraosseous vascular malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140450
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140453
Autosomal dominant hereditary axonal motor and sensory neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140456
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140459
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1533
X-linked recessive hereditary axonal motor and sensory neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140462
Autosomal dominant hereditary distal motor neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465
Autosomal recessive hereditary distal motor neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468
Hereditary sensory and autonomic neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140471
Autosomal dominant hereditary sensory and autonomic neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140474
Autosomal recessive hereditary sensory and autonomic neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140477
Autosomal dominant slowed nerve conduction velocity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481
Craniosynostosis - dysmorphism - brachydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1535
Craniosynostosis - midfacial hypoplasia - foot abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140653
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Gene [OrphaNum:159980 ; Name:Lipase, hepatic ; Symbol:LIPC ; xref: GENATLAS:LIPC ; xref: HGNC:6619 ; xref: OMIM:151670 ; xref: UNIPROTKB/SWISSPROT:P11150 ; xref: ENSEMBL:ENSG00000166035 ; xref: REACTOME:P11150]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908
Stapes ankylosis with broad thumbs and toes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917
Autosomal recessive limb-girdle muscular dystrophy type 2J
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922
Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657]
Gene [OrphaNum:118182 ; Name:Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) ; Symbol:PYGM ; xref: GENATLAS:PYGM ; xref: HGNC:9726 ; xref: OMIM:608455 ; xref: UNIPROTKB/SWISSPROT:P11217 ; xref: REACTOME:P11217 ; xref: ENSEMBL:ENSG00000068976]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368
Severe combined immunodeficiency T- B+ due to gamma chain deficiency
Severe combined immunodeficiency T- B+, X-linked
Gene [OrphaNum:122641 ; Name:Interleukin 2 receptor, gamma (severe combined immunodeficiency) ; Symbol:IL2RG ; xref: GENATLAS:IL2RG ; xref: HGNC:6010 ; xref: OMIM:308380 ; xref: UNIPROTKB/SWISSPROT:P31785 ; xref: REACTOME:P31785 ; xref: ENSEMBL:ENSG00000147168]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276
Benign familial neonatal-infantile seizures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933
Ectodermal dysplasia - acanthosis nigricans
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936
Short stature due to primary acid-labile subunit deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941
Gene [OrphaNum:159982 ; Name:Insulin-like growth factor binding protein, acid labile subunit ; Symbol:IGFALS ; xref: GENATLAS:IGFALS ; xref: HGNC:5468 ; xref: OMIM:601489 ; xref: UNIPROTKB/SWISSPROT:P35858 ; xref: REACTOME:P35858 ; xref: ENSEMBL:ENSG00000099769]
Congenital lipomatous overgrowth - vascular malformation - epidermal nevi
Gene [OrphaNum:117820 ; Name:Phosphoinositide-3-kinase, catalytic, alpha polypeptide ; Symbol:PIK3CA ; xref: GENATLAS:PIK3CA ; xref: HGNC:8975 ; xref: OMIM:171834 ; xref: UNIPROTKB/SWISSPROT:P42336 ; xref: ENSEMBL:ENSG00000121879 ; xref: REACTOME:P42336]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944
Syndactyly - telecanthus - anogenital and renal malformations
Gene [OrphaNum:159514 ; Name:Family with sequence similarity 58, member A ; Symbol:FAM58A ; xref: GENATLAS:FAM58A ; xref: HGNC:28434 ; xref: OMIM:300708 ; xref: UNIPROTKB/SWISSPROT:Q8N1B3 ; xref: ENSEMBL:ENSG00000147382]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952
Autosomal dominant macrothrombocytopenia
Gene [OrphaNum:122704 ; Name:Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) ; Symbol:ITGB3 ; xref: GENATLAS:ITGB3 ; xref: HGNC:6156 ; xref: OMIM:173470 ; xref: UNIPROTKB/SWISSPROT:P05106 ; xref: ENSEMBL:ENSG00000259207 ; xref: REACTOME:P05106]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957
Gene [OrphaNum:280099 ; Name:Tubulin, beta 1 class VI ; Symbol:TUBB1 ; xref: ENSEMBL:ENSG00000101162 ; xref: REACTOME:Q9H4B7 ; xref: HGNC:16257 ; xref: OMIM:612901 ; xref: GENATLAS:TUBB1 ; xref: UNIPROTKB/SWISSPROT:Q9H4B7]
Gene [OrphaNum:123381 ; Name:cytokine receptor-like factor 1 ; Symbol:CRLF1 ; xref: GENATLAS:CRLF1 ; xref: HGNC:2364 ; xref: OMIM:604237 ; xref: UNIPROTKB/SWISSPROT:O75462 ; xref: ENSEMBL:ENSG00000006016]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545
Bilateral microtia - deafness - cleft palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966
Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969
Gene [OrphaNum:302892 ; Name:Intraflagellar transport 140 homolog (Chlamydomonas) ; Symbol:IFT140 ; xref: HGNC:29077 ; xref: OMIM:614620 ; xref: GENATLAS:IFT140 ; xref: UNIPROTKB/SWISSPROT:Q96RY7]
Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976
Primary angiitis of the central nervous system
Isolated angiitis of the central nervous system
Primary vasculitis of the central nervous system
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Oral-facial-digital syndrome, Gabrielli type
Orofaciodigital syndrome, Gabrielli type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Oral-facial-digital syndrome with retinal abnormalities
Orofaciodigital syndrome with retinal abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013
Cryptomicrotia - brachydactyly - excess fingertip arch
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067
Digestive duplication cyst of the tongue
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071
Cryptorchidism - arachnodactyly - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548
External auditory canal aplasia/hypoplasia
External auditory canal stenosis/atresia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077
Congenital nasolacrimal duct obstruction
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127
Unilateral or bilateral and asymmetric otomandibular dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141136
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148
Isolated congenital hypoglossia/aglossia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152
Corpus callosum agenesis - polysyndactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163
Cerebrofacial arteriovenous metameric syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189
Cerebrofacial arteriovenous metameric syndrome type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194
Cerebrofacial arteriovenous metameric syndrome type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141199
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253
Cutis gyrata - acanthosis nigricans - craniosynostosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555
Gene [OrphaNum:270468 ; Name:sperm antigen with calponin homology and coiled-coil domains 1-like ; Symbol:SPECC1L ; xref: ENSEMBL:ENSG00000100014 ; xref: HGNC:29022 ; xref: OMIM:614140 ; xref: GENATLAS:SPECC1L ; xref: UNIPROTKB/SWISSPROT:Q69YQ0]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141269
Gene [OrphaNum:118126 ; Name:Patched homolog 2 (Drosophila) ; Symbol:PTCH2 ; xref: GENATLAS:PTCH2 ; xref: HGNC:9586 ; xref: OMIM:603673 ; xref: UNIPROTKB/SWISSPROT:Q9Y6C5 ; xref: ENSEMBL:ENSG00000117425 ; xref: REACTOME:Q9Y6C5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Cysts and fistulae of the face and oral cavity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155835
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156005
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156071
Nonacquired isolated growth hormone deficiency
Congenital isolated growth hormone deficiency
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156156
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156159
Otomandibular dysplasia associated with monogenic syndromes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156207
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156212
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156215
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156224
Syndrome or malformation associated with head and neck malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156237
Pinnae and external auditory canal anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156243
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156246
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156249
Cutis verticis gyrata - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1557
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156252
Rare syndrome with cardiac malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156532
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156601
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156604
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156607
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156610
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156619
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156622
Genetic malformative disorder of sex development
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156625
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156629
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156638
Short ribs - craniosynostosis - polysyndactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156723
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728
Dyssegmental dysplasia, Rolland-Desbuquois type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731
Hereditary hypophosphatemic rickets with hypercalciuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215
Gene [OrphaNum:118834 ; Name:Solute carrier family 34 (sodium phosphate), member 3 ; Symbol:SLC34A3 ; xref: GENATLAS:SLC34A3 ; xref: HGNC:20305 ; xref: OMIM:609826 ; xref: UNIPROTKB/SWISSPROT:Q8N130 ; xref: REACTOME:Q8N130 ; xref: ENSEMBL:ENSG00000198569]
Congenital or early infantile CACH syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719
Gene [OrphaNum:159918 ; Name:Activin A receptor, type IIB ; Symbol:ACVR2B ; xref: GENATLAS:ACVR2B ; xref: HGNC:174 ; xref: OMIM:602730 ; xref: UNIPROTKB/SWISSPROT:Q13705 ; xref: REACTOME:Q13705 ; xref: ENSEMBL:ENSG00000114739]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769
Gene [OrphaNum:168165 ; Name:Left-right determination factor 2 ; Symbol:LEFTY2 ; xref: GENATLAS:LEFTY2 ; xref: HGNC:3122 ; xref: OMIM:601877 ; xref: UNIPROTKB/SWISSPROT:O00292 ; xref: ENSEMBL:ENSG00000143768 ; xref: REACTOME:O00292]
Gene [OrphaNum:119359 ; Name:Cripto, FRL-1, cryptic family 1 ; Symbol:CFC1 ; xref: GENATLAS:CFC1 ; xref: HGNC:18292 ; xref: OMIM:605194 ; xref: UNIPROTKB/SWISSPROT:Q9GZR3 ; xref: REACTOME:Q9GZR3 ; xref: ENSEMBL:ENSG00000136698]
Gene [OrphaNum:120613 ; Name:Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila) ; Symbol:ZIC3 ; xref: GENATLAS:ZIC3 ; xref: HGNC:12874 ; xref: OMIM:300265 ; xref: UNIPROTKB/SWISSPROT:O60481 ; xref: ENSEMBL:ENSG00000156925]
Hypospadias-hypertelorism-coloboma and deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157788
Gene [OrphaNum:303758 ; Name:Gremlin 1 ; Symbol:GREM1 ; xref: HGNC:2001 ; xref: OMIM:603054 ; xref: GENATLAS:GREM1 ; xref: UNIPROTKB/SWISSPROT:O60565]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798
Mesoaxial synostotic syndactyly with phalangeal reduction
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808
Gene [OrphaNum:159242 ; Name:Cardiotrophin-like cytokine factor 1 ; Symbol:CLCF1 ; xref: GENATLAS:CLCF1 ; xref: HGNC:17412 ; xref: OMIM:607672 ; xref: UNIPROTKB/SWISSPROT:Q9UBD9 ; xref: ENSEMBL:ENSG00000175505]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1562
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846
Pantothenate-kinase-associated neurodegeneration
Neurodegeneration with brain iron accumulation type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850
Early onset prion disease with prominent psychiatric features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941
Gene [OrphaNum:118023 ; Name:Prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) ; Symbol:PRNP ; xref: GENATLAS:PRNP ; xref: HGNC:9449 ; xref: OMIM:176640 ; xref: UNIPROTKB/SWISSPROT:P04156 ; xref: ENSEMBL:ENSG00000171867 ; xref: REACTOME:P04156]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946
Primary immunodeficiency with skin granulomas
Combined cellular and humoral deficiencies and multiple granulomas
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949
Alopecia - progressive neurological defect - endocrinopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954
Gene [OrphaNum:159449 ; Name:RNA binding motif protein 28 ; Symbol:RBM28 ; xref: GENATLAS:RBM28 ; xref: HGNC:21863 ; xref: OMIM:612074 ; xref: UNIPROTKB/SWISSPROT:Q9NW13 ; xref: ENSEMBL:ENSG00000106344]
Oculoauricular syndrome, Schorderet type
Gene [OrphaNum:159708 ; Name:H6 family homeobox 1 ; Symbol:HMX1 ; xref: GENATLAS:HMX1 ; xref: HGNC:5017 ; xref: OMIM:142992 ; xref: UNIPROTKB/SWISSPROT:Q9NP08 ; xref: ENSEMBL:ENSG00000215612]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962
Ehlers-Danlos syndrome, spondylocheiro dysplastic type
Gene [OrphaNum:159403 ; Name:Solute carrier family 39 (zinc transporter), member 13 ; Symbol:SLC39A13 ; xref: GENATLAS:SLC39A13 ; xref: HGNC:20859 ; xref: OMIM:608735 ; xref: UNIPROTKB/SWISSPROT:Q96H72 ; xref: ENSEMBL:ENSG00000165915]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965
Congenital muscular dystrophy due to LMNA mutation
LMNA-related congenital muscular dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158029
Gene [OrphaNum:121390 ; Name:Apolipoprotein E ; Symbol:APOE ; xref: GENATLAS:APOE ; xref: HGNC:613 ; xref: OMIM:107741 ; xref: UNIPROTKB/SWISSPROT:P02649 ; xref: ENSEMBL:ENSG00000130203 ; xref: REACTOME:P02649]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158032
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158124
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158266
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158300
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1569
Retinal detachment - occipital encephalocele
Gene [OrphaNum:285264 ; Name:ADAM Metallopeptidase with thrombospondin type 1 motif, 18 ; Symbol:ADAMTS18 ; xref: HGNC:17110 ; xref: GENATLAS:ADAMTS18 ; xref: OMIM:607512 ; xref: UNIPROTKB/SWISSPROT:Q8TE60 ; xref: ENSEMBL:ENSG00000140873]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571
Gene [OrphaNum:120702 ; Name:Collagen, type XVIII, alpha 1 ; Symbol:COL18A1 ; xref: HGNC:2195 ; xref: OMIM:120328 ; xref: UNIPROTKB/SWISSPROT:P39060 ; xref: GENATLAS:COL18A1 ; xref: ENSEMBL:ENSG00000182871]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551
Suprabasal epidermolysis bullosa simplex
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158661
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158665
Epidermolysis bullosa simplex due to plakophilin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673
Epidermolysis bullosa, dystrophic, nails only
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676
Epidermolysis bullosa simplex with migratory circinate erythema
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681
Epidermolysis bullosa simplex - pyloric atresia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684
Lethal acantholytic epidermolysis bullosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687
Lipodystrophy due to peptidic growth factors deficiency
Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
Werner-like syndrome due to combined growth factor deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979
Guanidinoacetate methyltransferase deficiency
Gene [OrphaNum:122011 ; Name:Guanidinoacetate N-methyltransferase ; Symbol:GAMT ; xref: GENATLAS:GAMT ; xref: HGNC:4136 ; xref: OMIM:601240 ; xref: UNIPROTKB/SWISSPROT:Q14353 ; xref: REACTOME:Q14353 ; xref: ENSEMBL:ENSG00000130005]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742
Gene [OrphaNum:124187 ; Name:Peptidase D ; Symbol:PEPD ; xref: GENATLAS:PEPD ; xref: HGNC:8840 ; xref: OMIM:613230 ; xref: UNIPROTKB/SWISSPROT:P12955 ; xref: ENSEMBL:ENSG00000124299]
Steroid dehydrogenase deficiency - dental anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196
Gene [OrphaNum:119999 ; Name:Transcobalamin II; macrocytic anemia ; Symbol:TCN2 ; xref: GENATLAS:TCN2 ; xref: HGNC:11653 ; xref: OMIM:613441 ; xref: UNIPROTKB/SWISSPROT:P20062 ; xref: ENSEMBL:ENSG00000185339]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859
Homocystinuria due to cystathionine beta-synthase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394
Gene [OrphaNum:119199 ; Name:Cystathionine-beta-synthase ; Symbol:CBS ; xref: ENSEMBL:ENSG00000160200 ; xref: REACTOME:P35520 ; xref: GENATLAS:CBS ; xref: HGNC:1550 ; xref: OMIM:613381 ; xref: UNIPROTKB/SWISSPROT:P35520]
Alpers progressive sclerosing poliodystrophy
Progressive neuronal degeneration of childhood with liver disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726
Hypotrichosis with juvenile macular degeneration
Hypotrichosis with juvenile macular dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573
Gene [OrphaNum:119285 ; Name:Cadherin 3, type 1, P-cadherin (placental) ; Symbol:CDH3 ; xref: GENATLAS:CDH3 ; xref: HGNC:1762 ; xref: OMIM:114021 ; xref: UNIPROTKB/SWISSPROT:P22223 ; xref: REACTOME:P22223 ; xref: ENSEMBL:ENSG00000062038]
Retinal degeneration - nanophthalmos - glaucoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617
Orbital cyst with cerebral and focal dermal malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653
Gene [OrphaNum:121202 ; Name:Dentin sialophosphoprotein ; Symbol:DSPP ; xref: GENATLAS:DSPP ; xref: HGNC:3054 ; xref: OMIM:125485 ; xref: UNIPROTKB/SWISSPROT:Q9NZW4 ; xref: ENSEMBL:ENSG00000152591]
Gene [OrphaNum:303024 ; Name:SPARC related modular calcium binding 2 ; Symbol:SMOC2 ; xref: HGNC:20323 ; xref: OMIM:607223 ; xref: GENATLAS:SMOC2 ; xref: UNIPROTKB/SWISSPROT:Q9H3U7]
Natal teeth - intestinal pseudoobstruction - patent ductus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1654
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148
Absence of fingerprints - congenital milia
Absence of dermatoglyphics - congenital milia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660
Isolated congenital nasal pyriform aperture stenosis
Isolated nasal pyriform aperture hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516
Congenital nasal pyriform aperture stenosis with holoprosencephaly
Apertura pyriformis with holoprosencephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162521
Isolated congenital auditory ossicle malformation
Congenital auditory ossicle malformation without external ear abnormality
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526
Nonsyndromic cerebral malformation due to abnormal neuronal migration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209
Corneal dystrophy epithelial - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596
Bile acid synthesis defect with cholestasis and malabsorption
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662
Spondyloepiphyseal dysplasia, Nishimura type
Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual deficit
Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - mental retardation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649
Spondyloepiphyseal dysplasia, Cantu type
Spondyloepiphyseal dysplasia - brachydactyly - speech disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654
Spondyloepiphyseal dysplasia, Reardon type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662
Spondyloepiphyseal dysplasia tarda, Kohn type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665
Spondyloepiphyseal dysplasia, MacDermot type
Spondyloepiphyseal dysplasia - myopia - sensorineural deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668
Unclassified spondylometaphyseal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163678
Cortical dysplasia - focal epilepsy syndrome
Gene [OrphaNum:165932 ; Name:Contactin associated protein-like 2 ; Symbol:CNTNAP2 ; xref: GENATLAS:CNTNAP2 ; xref: HGNC:13830 ; xref: OMIM:604569 ; xref: UNIPROTKB/SWISSPROT:Q9UHC6 ; xref: ENSEMBL:ENSG00000174469]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681
Leukoencephalopathy - dystonia - motor neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684
Gene [OrphaNum:165921 ; Name:Sterol carrier protein 2 ; Symbol:SCP2 ; xref: GENATLAS:SCP2 ; xref: HGNC:10606 ; xref: OMIM:184755 ; xref: UNIPROTKB/SWISSPROT:P22307 ; xref: ENSEMBL:ENSG00000116171 ; xref: REACTOME:P22307]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690
Gene [OrphaNum:165929 ; Name:Prolyl endopeptidase-like ; Symbol:PREPL ; xref: GENATLAS:PREPL ; xref: HGNC:30228 ; xref: OMIM:609557 ; xref: UNIPROTKB/SWISSPROT:Q4J6C6 ; xref: ENSEMBL:ENSG00000138078]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693
Gene [OrphaNum:244720 ; Name:Protein phosphatase, Mg2+/Mn2+ dependent, 1B ; Symbol:PPM1B ; xref: HGNC:9276 ; xref: UNIPROTKB/SWISSPROT:O75688 ; xref: GENATLAS:PPM1B ; xref: OMIM:603770 ; xref: ENSEMBL:ENSG00000138032 ; xref: REACTOME:O75688]
Gene [OrphaNum:244716 ; Name:calmodulin-lysine N-methyltransferase ; Symbol:CAMKMT ; xref: GENATLAS:C2orf34 ; xref: HGNC:26276 ; xref: UNIPROTKB/SWISSPROT:Q7Z624 ; xref: OMIM:609559 ; xref: ENSEMBL:ENSG00000143919]
Action myoclonus - renal failure syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696
Fever-induced resistant epilepsy in school-age children
Devastating Epileptic encephalopathy in School-age Children
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708
Benign familial mesial temporal lobe epilepsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Gene [OrphaNum:119786 ; Name:SRY (sex determining region Y)-box 10 ; Symbol:SOX10 ; xref: GENATLAS:SOX10 ; xref: HGNC:11190 ; xref: OMIM:602229 ; xref: UNIPROTKB/SWISSPROT:P56693 ; xref: ENSEMBL:ENSG00000100146]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667
Gene [OrphaNum:121317 ; Name:Eukaryotic translation initiation factor 2-alpha kinase 3 ; Symbol:EIF2AK3 ; xref: GENATLAS:EIF2AK3 ; xref: HGNC:3255 ; xref: OMIM:604032 ; xref: UNIPROTKB/SWISSPROT:Q9NZJ5 ; xref: REACTOME:Q9NZJ5 ; xref: ENSEMBL:ENSG00000172071]
X-linked intellectual deficit, Najm type
X-linked intellectual deficit - microcephaly - brainstem and cerebellum hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937
Gene [OrphaNum:165976 ; Name:Calcium/calmodulin-dependent serine protein kinase (MAGUK family) ; Symbol:CASK ; xref: GENATLAS:CASK ; xref: HGNC:1497 ; xref: OMIM:300172 ; xref: UNIPROTKB/SWISSPROT:Q5VT19 ; xref: REACTOME:Q5VT19 ; xref: ENSEMBL:ENSG00000147044]
Intellectual deficit, X-linked, Raymond type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163953
Gene [OrphaNum:159313 ; Name:Zinc finger, DHHC-type containing 9 ; Symbol:ZDHHC9 ; xref: GENATLAS:ZDHHC9 ; xref: HGNC:18475 ; xref: OMIM:300646 ; xref: UNIPROTKB/SWISSPROT:Q9Y397 ; xref: ENSEMBL:ENSG00000188706]
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive;
Intellectual deficit, X-linked, Nascimento type
X-linked intellectual deficit - nail dystrophy - seizures
Gene [OrphaNum:159080 ; Name:Ubiquitin-conjugating enzyme E2A (RAD6 homolog) ; Symbol:UBE2A ; xref: GENATLAS:UBE2A ; xref: HGNC:12472 ; xref: OMIM:312180 ; xref: UNIPROTKB/SWISSPROT:P49459 ; xref: ENSEMBL:ENSG00000077721 ; xref: REACTOME:P49459]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956
Intellectual deficit, X-linked, Kroes type
X-linked cerebral - cerebellar - coloboma syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia
Gene [OrphaNum:248481 ; Name:Histone deacetylase 6 ; Symbol:HDAC6 ; xref: ENSEMBL:ENSG00000094631 ; xref: REACTOME:Q9UBN7 ; xref: GENATLAS:HDAC6 ; xref: HGNC:14064 ; xref: OMIM:300272 ; xref: UNIPROTKB/SWISSPROT:Q9UBN7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966
Intellectual deficit, X-linked, Cilliers type
X-linked intellectual deficit - microcephaly - testicular failure
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971
Intellectual deficit, X-linked, Van Esch type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976
Intellectual deficit, X-linked - craniofacioskeletal syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979
Intellectual deficit, X-linked - spastic quadriparesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163982
Gene [OrphaNum:166055 ; Name:Cdc42 guanine nucleotide exchange factor (GEF) 9 ; Symbol:ARHGEF9 ; xref: GENATLAS:ARHGEF9 ; xref: HGNC:14561 ; xref: OMIM:300429 ; xref: UNIPROTKB/SWISSPROT:O43307 ; xref: REACTOME:O43307 ; xref: ENSEMBL:ENSG00000131089]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985
Developmental delay - deafness, Hildebrand type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163988
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164001
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736
Gene [OrphaNum:165845 ; Name:Casein kinase 1, delta ; Symbol:CSNK1D ; xref: GENATLAS:CSNK1D ; xref: HGNC:2452 ; xref: OMIM:600864 ; xref: UNIPROTKB/SWISSPROT:P48730 ; xref: REACTOME:P48730 ; xref: ENSEMBL:ENSG00000141551]
Gene [OrphaNum:167886 ; Name:Period homolog 2 (Drosophila) ; Symbol:PER2 ; xref: GENATLAS:PER2 ; xref: HGNC:8846 ; xref: OMIM:603426 ; xref: UNIPROTKB/SWISSPROT:O15055 ; xref: REACTOME:O15055 ; xref: ENSEMBL:ENSG00000132326]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671
Rare genetic gastroenterological disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165652
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165655
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165658
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165661
Familial mesial temporal lobe epilepsy with febrile seizures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805
Diazoxide-sensitive diffuse hyperinsulinism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985
Diazoxide-resistant diffuse hyperinsulinism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988
Exercise-induced hyperinsulinemic hypoglycemia
Hyperinsulinism due to SLC16A1 deficiency
Hyperinsulinism due to monocarboxylate transporter 1 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991
Gene [OrphaNum:168122 ; Name:Solute carrier family 16, member 1 (monocarboxylic acid transporter 1) ; Symbol:SLC16A1 ; xref: GENATLAS:SLC16A1 ; xref: HGNC:10922 ; xref: OMIM:600682 ; xref: UNIPROTKB/SWISSPROT:P53985 ; xref: ENSEMBL:ENSG00000155380 ; xref: REACTOME:P53985]
Selective pituitary resistance to thyroid hormone
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165994
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002
Gene [OrphaNum:120748 ; Name:Collagen, type IX, alpha 1 ; Symbol:COL9A1 ; xref: GENATLAS:COL9A1 ; xref: HGNC:2217 ; xref: OMIM:120210 ; xref: UNIPROTKB/SWISSPROT:P20849 ; xref: REACTOME:P20849 ; xref: ENSEMBL:ENSG00000112280]
Gene [OrphaNum:120750 ; Name:Collagen, type IX, alpha 2 ; Symbol:COL9A2 ; xref: GENATLAS:COL9A2 ; xref: HGNC:2218 ; xref: OMIM:120260 ; xref: UNIPROTKB/SWISSPROT:Q14055 ; xref: ENSEMBL:ENSG00000049089 ; xref: REACTOME:Q14055]
Gene [OrphaNum:120754 ; Name:Collagen, type IX, alpha 3 ; Symbol:COL9A3 ; xref: GENATLAS:COL9A3 ; xref: HGNC:2219 ; xref: OMIM:120270 ; xref: UNIPROTKB/SWISSPROT:Q14050 ; xref: ENSEMBL:ENSG00000092758 ; xref: REACTOME:Q14050]
Multiple epiphyseal dysplasia, Beighton type
Multiple epiphyseal dysplasia - myopia - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166011
Multiple epiphyseal dysplasia, Lowry type
Multiple epiphyseal dysplasia with Robin phenotype
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016
Gene [OrphaNum:123695 ; Name:Neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1) ; Symbol:NCF1 ; xref: REACTOME:P14598 ; xref: GENATLAS:NCF1 ; xref: HGNC:7660 ; xref: OMIM:608512 ; xref: UNIPROTKB/SWISSPROT:P14598 ; xref: ENSEMBL:ENSG00000158517]
Gene [OrphaNum:204415 ; Name:Neutrophil cytosolic factor 4, 40kDa ; Symbol:NCF4 ; xref: REACTOME:Q15080 ; xref: ENSEMBL:ENSG00000100365 ; xref: GENATLAS:NCF4 ; xref: HGNC:7662 ; xref: OMIM:601488 ; xref: UNIPROTKB/SWISSPROT:Q15080]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Gene [OrphaNum:138719 ; Name:Cytochrome b-245, alpha polypeptide ; Symbol:CYBA ; xref: GENATLAS:CYBA ; xref: HGNC:2577 ; xref: OMIM:608508 ; xref: UNIPROTKB/SWISSPROT:P13498 ; xref: REACTOME:P13498 ; xref: ENSEMBL:ENSG00000051523]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Gene [OrphaNum:120935 ; Name:Cytochrome b-245, beta polypeptide (chronic granulomatous disease) ; Symbol:CYBB ; xref: GENATLAS:CYBB ; xref: HGNC:2578 ; xref: OMIM:300481 ; xref: UNIPROTKB/SWISSPROT:P04839 ; xref: REACTOME:P04839 ; xref: ENSEMBL:ENSG00000165168]
Gene [OrphaNum:123701 ; Name:Neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) ; Symbol:NCF2 ; xref: ENSEMBL:ENSG00000116701 ; xref: REACTOME:P19878 ; xref: GENATLAS:NCF2 ; xref: HGNC:7661 ; xref: OMIM:608515 ; xref: UNIPROTKB/SWISSPROT:P19878]
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple epiphyseal dysplasia - macrocephaly - distinctive facies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029
Multiple epiphyseal dysplasia, with miniepiphyses
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032
Metaphyseal chondrodysplasia - retinitis pigmentosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035
Metaphyseal chondrodysplasia, Kaitila type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Gene [OrphaNum:168268 ; Name:tRNA splicing endonuclease 54 homolog (S. cerevisiae) ; Symbol:TSEN54 ; xref: GENATLAS:TSEN54 ; xref: HGNC:27561 ; xref: OMIM:608755 ; xref: UNIPROTKB/SWISSPROT:Q7Z6J9 ; xref: ENSEMBL:ENSG00000182173]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063
Fetal-onset olivopontocerebellar hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166068
Fatal infantile encephalopathy, with mitochondrial respiratory chain defects
Gene [OrphaNum:159426 ; Name:Arginyl-tRNA synthetase 2, mitochondrial ; Symbol:RARS2 ; xref: GENATLAS:RARS2 ; xref: HGNC:21406 ; xref: OMIM:611524 ; xref: UNIPROTKB/SWISSPROT:Q5T160 ; xref: REACTOME:Q5T160 ; xref: ENSEMBL:ENSG00000146282]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078
Gene [OrphaNum:120487 ; Name:Von Willebrand factor ; Symbol:VWF ; xref: GENATLAS:VWF ; xref: HGNC:12726 ; xref: UNIPROTKB/SWISSPROT:P04275 ; xref: OMIM:613160 ; xref: ENSEMBL:ENSG00000110799 ; xref: REACTOME:P04275]
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081
prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100
FASTKD2-related infantile mitochondrial encephalomyopathy
Gene [OrphaNum:168272 ; Name:FAST kinase domains 2 ; Symbol:FASTKD2 ; xref: GENATLAS:FASTKD2 ; xref: HGNC:29160 ; xref: OMIM:612322 ; xref: UNIPROTKB/SWISSPROT:Q9NYY8 ; xref: ENSEMBL:ENSG00000118246]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105
Intellectual deficit - hypotonia - facial dysmorphism
Gene [OrphaNum:166255 ; Name:Potassium channel, subfamily K, member 9 ; Symbol:KCNK9 ; xref: GENATLAS:KCNK9 ; xref: HGNC:6283 ; xref: OMIM:605874 ; xref: UNIPROTKB/SWISSPROT:Q9NPC2 ; xref: IUPHAR:520 ; xref: ENSEMBL:ENSG00000169427 ; xref: REACTOME:Q9NPC2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119
Dentinogenesis imperfecta , Shields type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260
Dentinogenesis imperfecta , Shields type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265
Chondrodysplasia - dentinogenesis imperfecta - joint laxity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272
Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282
Gene [OrphaNum:122381 ; Name:Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ; Symbol:HCN4 ; xref: GENATLAS:HCN4 ; xref: HGNC:16882 ; xref: OMIM:605206 ; xref: UNIPROTKB/SWISSPROT:Q9Y3Q4 ; xref: REACTOME:Q9Y3Q4 ; xref: ENSEMBL:ENSG00000138622 ; xref: IUPHAR:403]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166295
Benign partial epilepsy of infancy with complex partial seizures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166299
Benign partial epilepsy with secondarily generalized seizures in infancy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166302
Benign infantile seizures associated to mild gastroenteritis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166305
Benign infantile focal epilepsy with midline spikes and wave during sleep
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166311
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166409
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166415
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166418
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166421
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166427
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166430
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166463
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166466
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166472
Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166475
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166478
Cerebral diseases of vascular origin with epilepsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166487
Generalized papular and sclerodermoid lichen myxedematosus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167759
Rare disease with dentinogenesis imperfecta
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167762
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16
Gene [OrphaNum:124012 ; Name:Opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ; Symbol:OPN1MW ; xref: GENATLAS:OPN1MW ; xref: HGNC:4206 ; xref: OMIM:613523 ; xref: UNIPROTKB/SWISSPROT:P04001 ; xref: REACTOME:P04001 ; xref: ENSEMBL:ENSG00000147380]
Gene [OrphaNum:124007 ; Name:Opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) ; Symbol:OPN1LW ; xref: ENSEMBL:ENSG00000102076 ; xref: GENATLAS:OPN1LW ; xref: HGNC:9936 ; xref: UNIPROTKB/SWISSPROT:P04000 ; xref: OMIM:613524 ; xref: REACTOME:P04000]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive;
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765
Spondyloepimetaphyseal dysplasia - hypotrichosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443
Spondyloepimetaphyseal dysplasia, Bieganski type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168448
Spondyloepimetaphyseal dysplasia - abnormal dentition
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451
Spondyloepimetaphyseal dysplasia, Genevieve type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454
Congenital neuronal ceroid lipofuscinosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Late infantile neuronal ceroid lipofuscinosis
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Spondylometaphyseal dysplasia, Golden type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552
Non progressive cerebellar ataxia - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766
Gene [OrphaNum:120470 ; Name:Very low density lipoprotein receptor ; Symbol:VLDLR ; xref: GENATLAS:VLDLR ; xref: HGNC:12698 ; xref: OMIM:192977 ; xref: UNIPROTKB/SWISSPROT:P98155 ; xref: ENSEMBL:ENSG00000147852]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555
46,XY disorder of sex development - adrenal insufficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558
Gene [OrphaNum:120945 ; Name:Cytochrome P450, family 11, subfamily A, polypeptide 1 ; Symbol:CYP11A1 ; xref: GENATLAS:CYP11A1 ; xref: HGNC:2590 ; xref: OMIM:118485 ; xref: UNIPROTKB/SWISSPROT:P05108 ; xref: ENSEMBL:ENSG00000140459 ; xref: REACTOME:P05108]
46,XY gonadal dysgenesis - motor and sensory neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566
Gene [OrphaNum:173154 ; Name:Ts translation elongation factor, mitochondrial ; Symbol:TSFM ; xref: GENATLAS:TSFM ; xref: HGNC:12367 ; xref: OMIM:604723 ; xref: UNIPROTKB/SWISSPROT:P43897 ; xref: ENSEMBL:ENSG00000123297]
Gene [OrphaNum:173057 ; Name:Solute carrier family 29 (nucleoside transporters), member 3 ; Symbol:SLC29A3 ; xref: GENATLAS:SLC29A3 ; xref: HGNC:23096 ; xref: OMIM:612373 ; xref: UNIPROTKB/SWISSPROT:Q9BZD2 ; xref: ENSEMBL:ENSG00000198246 ; xref: REACTOME:Q9BZD2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569
Congenital myopathy - cleft palate - malignant hyperthermia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572
Hereditary cryohydrocytosis with reduced stomatin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577
Hereditary North American Indian childhood cirrhosis
Gene [OrphaNum:173184 ; Name:Cirrhosis, autosomal recessive 1A (cirhin) ; Symbol:CIRH1A ; xref: GENATLAS:CIRH1A ; xref: HGNC:1983 ; xref: OMIM:607456 ; xref: UNIPROTKB/SWISSPROT:Q969X6 ; xref: ENSEMBL:ENSG00000141076]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583
Hyperandrogenism due to cortisone reductase deficiency
11-beta-hydroxysteroid dehydrogenase deficiency type 1
Gene [OrphaNum:173206 ; Name:Hydroxysteroid (11-beta) dehydrogenase 1 ; Symbol:HSD11B1 ; xref: GENATLAS:HSD11B1 ; xref: HGNC:5208 ; xref: OMIM:600713 ; xref: UNIPROTKB/SWISSPROT:P28845 ; xref: ENSEMBL:ENSG00000117594 ; xref: REACTOME:P28845]
Gene [OrphaNum:173203 ; Name:Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ; Symbol:H6PD ; xref: GENATLAS:H6PD ; xref: HGNC:4795 ; xref: OMIM:138090 ; xref: UNIPROTKB/SWISSPROT:O95479 ; xref: ENSEMBL:ENSG00000049239]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588
Sudden infant death - dysgenesis of the testes
Gene [OrphaNum:173211 ; Name:TSPY-like 1 ; Symbol:TSPYL1 ; xref: GENATLAS:TSPYL1 ; xref: HGNC:12382 ; xref: OMIM:604714 ; xref: UNIPROTKB/SWISSPROT:Q9H0U9 ; xref: ENSEMBL:ENSG00000189241]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593
Brain demyelination due to methionine adenosyltransferase deficiency
Methionine adenosyltransferase deficiency
Gene [OrphaNum:173216 ; Name:Methionine adenosyltransferase I, alpha ; Symbol:MAT1A ; xref: GENATLAS:MAT1A ; xref: HGNC:6903 ; xref: OMIM:610550 ; xref: UNIPROTKB/SWISSPROT:Q00266 ; xref: ENSEMBL:ENSG00000151224 ; xref: REACTOME:Q00266]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598
Congenital enteropathy due to enteropeptidase deficiency
Gene [OrphaNum:173222 ; Name:Transmembrane protease, serine 15 ; Symbol:TMPRSS15 ; xref: GENATLAS:PRSS7 ; xref: HGNC:9490 ; xref: OMIM:606635 ; xref: UNIPROTKB/SWISSPROT:P98073 ; xref: ENSEMBL:ENSG00000154646]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601
Seborrhea-like dermatitis with psoriasiform elements
Gene [OrphaNum:173226 ; Name:Zinc finger protein 750 ; Symbol:ZNF750 ; xref: GENATLAS:ZNF750 ; xref: HGNC:25843 ; xref: OMIM:610226 ; xref: UNIPROTKB/SWISSPROT:Q32MQ0 ; xref: ENSEMBL:ENSG00000141579]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168609
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Congenital deficiency in alpha-fetoprotein
Gene [OrphaNum:173230 ; Name:Alpha-fetoprotein ; Symbol:AFP ; xref: GENATLAS:AFP ; xref: HGNC:317 ; xref: OMIM:104150 ; xref: UNIPROTKB/SWISSPROT:P02771 ; xref: ENSEMBL:ENSG00000081051]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612
Hereditary persistence of alpha-fetoprotein
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621
Familial scaphocephaly syndrome, McGillivray type
Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624
Autosomal thrombocytopenia with normal platelets
Gene [OrphaNum:260545 ; Name:ankyrin repeat domain 26 ; Symbol:ANKRD26 ; xref: ENSEMBL:ENSG00000107890 ; xref: GENATLAS:ANKRD26 ; xref: UNIPROTKB/SWISSPROT:Q9UPS8 ; xref: HGNC:29186 ; xref: OMIM:610855]
Gene [OrphaNum:173240 ; Name:Cytochrome c, somatic ; Symbol:CYCS ; xref: GENATLAS:CYCS ; xref: HGNC:19986 ; xref: OMIM:123970 ; xref: UNIPROTKB/SWISSPROT:P99999 ; xref: REACTOME:P99999 ; xref: ENSEMBL:ENSG00000172115]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629
Gene [OrphaNum:123154 ; Name:Microtubule associated serine/threonine kinase-like ; Symbol:MASTL ; xref: GENATLAS:MASTL ; xref: HGNC:19042 ; xref: OMIM:608221 ; xref: UNIPROTKB/SWISSPROT:Q96GX5 ; xref: ENSEMBL:ENSG00000120539]
Generalized basaloid follicular hamartoma syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632
Cardiac conduction disease - dilated cardiomyopathy - brachydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Sporadic;
Gene [OrphaNum:285739 ; Name:Testis specific protein, Y-linked 1 ; Symbol:TSPY1 ; xref: ENSEMBL:ENSG00000258992 ; xref: GENATLAS:TSPY1 ; xref: UNIPROTKB/SWISSPROT:Q01534 ; xref: HGNC:12381 ; xref: OMIM:480100]
Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency
Intellectual deficit - cataract - coloboma - kyphosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168972
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984
Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation
Gene [OrphaNum:159501 ; Name:Nonhomologous end-joining factor 1 ; Symbol:NHEJ1 ; xref: GENATLAS:NHEJ1 ; xref: HGNC:25737 ; xref: OMIM:611290 ; xref: UNIPROTKB/SWISSPROT:Q9H9Q4 ; xref: ENSEMBL:ENSG00000187736]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079
Combined immunodeficiency due to CD3gamma deficiency
Gene [OrphaNum:201284 ; Name:CD3g molecule, gamma (CD3-TCR complex) ; Symbol:CD3G ; xref: ENSEMBL:ENSG00000160654 ; xref: REACTOME:P09693 ; xref: HGNC:1675 ; xref: OMIM:186740 ; xref: GENATLAS:CD3G ; xref: UNIPROTKB/SWISSPROT:P09693]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Gene [OrphaNum:221184 ; Name:CD8a molecule ; Symbol:CD8A ; xref: REACTOME:P01732 ; xref: ENSEMBL:ENSG00000153563 ; xref: GENATLAS:CD8A ; xref: HGNC:1706 ; xref: OMIM:186910 ; xref: UNIPROTKB/SWISSPROT:P01732]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085
Severe combined immunodeficiency due to CRAC channel dysfunction
Immune dysfunction due to T-cell inactivation due to calcium entry defect
Gene [OrphaNum:201300 ; Name:Stromal interaction molecule 1 ; Symbol:STIM1 ; xref: REACTOME:Q13586 ; xref: ENSEMBL:ENSG00000167323 ; xref: GENATLAS:STIM1 ; xref: HGNC:11386 ; xref: OMIM:605921 ; xref: UNIPROTKB/SWISSPROT:Q13586]
Gene [OrphaNum:201295 ; Name:ORAI calcium release-activated calcium modulator 1 ; Symbol:ORAI1 ; xref: ENSEMBL:ENSG00000182500 ; xref: REACTOME:Q96D31 ; xref: HGNC:25896 ; xref: OMIM:610277 ; xref: GENATLAS:ORAI1 ; xref: UNIPROTKB/SWISSPROT:Q96D31]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090
Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095
Gene [OrphaNum:183879 ; Name:Forkhead box N1 ; Symbol:FOXN1 ; xref: GENATLAS:FOXN1 ; xref: HGNC:12765 ; xref: OMIM:600838 ; xref: UNIPROTKB/SWISSPROT:O15353 ; xref: ENSEMBL:ENSG00000109101]
Craniofacial dysmorphism - coloboma - corpus callosum agenesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777
Interleukin-2 receptor alpha chain deficiency
Gene [OrphaNum:160265 ; Name:Interleukin 2 receptor, alpha ; Symbol:IL2RA ; xref: GENATLAS:IL2RA ; xref: HGNC:6008 ; xref: OMIM:147730 ; xref: UNIPROTKB/SWISSPROT:P01589 ; xref: ENSEMBL:ENSG00000134460 ; xref: REACTOME:P01589]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169110
Transient hypogammaglobulinemia of infancy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169139
Recurrent infection due to specific granule deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142
Gene [OrphaNum:183890 ; Name:CCAAT/enhancer binding protein (C/EBP), epsilon ; Symbol:CEBPE ; xref: GENATLAS:CEBPE ; xref: HGNC:1836 ; xref: OMIM:600749 ; xref: UNIPROTKB/SWISSPROT:Q15744 ; xref: ENSEMBL:ENSG00000092067]
Immunodeficiency due to an early component of complement deficiency
Immunodeficiency due to a C1, C4, or C2 component complement deficiency
Gene [OrphaNum:119106 ; Name:Complement component 2 ; Symbol:C2 ; xref: GENATLAS:C2 ; xref: HGNC:1248 ; xref: OMIM:613927 ; xref: UNIPROTKB/SWISSPROT:P06681 ; xref: REACTOME:P06681 ; xref: ENSEMBL:ENSG00000166278]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147
Gene [OrphaNum:160082 ; Name:Complement component 4B (Childo blood group) ; Symbol:C4B ; xref: GENATLAS:C4B ; xref: HGNC:1324 ; xref: OMIM:120820 ; xref: UNIPROTKB/SWISSPROT:P0C0L5 ; xref: ENSEMBL:ENSG00000224389 ; xref: REACTOME:P0C0L5]
Gene [OrphaNum:221162 ; Name:Complement component 1, q subcomponent, A chain ; Symbol:C1QA ; xref: ENSEMBL:ENSG00000173372 ; xref: REACTOME:P02745 ; xref: GENATLAS:C1QA ; xref: HGNC:1241 ; xref: OMIM:120550 ; xref: UNIPROTKB/SWISSPROT:P02745]
Gene [OrphaNum:221168 ; Name:Complement component 1, q subcomponent, C chain ; Symbol:C1QC ; xref: ENSEMBL:ENSG00000159189 ; xref: REACTOME:P02747 ; xref: GENATLAS:C1QC ; xref: HGNC:1245 ; xref: OMIM:120575 ; xref: UNIPROTKB/SWISSPROT:P02747]
Gene [OrphaNum:221171 ; Name:Complement component 1, s subcomponent ; Symbol:C1S ; xref: ENSEMBL:ENSG00000182326 ; xref: REACTOME:P09871 ; xref: GENATLAS:C1S ; xref: HGNC:1247 ; xref: OMIM:120580 ; xref: UNIPROTKB/SWISSPROT:P09871]
Gene [OrphaNum:160067 ; Name:Complement component 4A (Rodgers blood group) ; Symbol:C4A ; xref: GENATLAS:C4A ; xref: HGNC:1323 ; xref: OMIM:120810 ; xref: UNIPROTKB/SWISSPROT:P0C0L4 ; xref: REACTOME:P0C0L4 ; xref: ENSEMBL:ENSG00000206340]
Gene [OrphaNum:221166 ; Name:Complement component 1, q subcomponent, B chain ; Symbol:C1QB ; xref: ENSEMBL:ENSG00000173369 ; xref: REACTOME:P02746 ; xref: GENATLAS:C1QB ; xref: HGNC:1242 ; xref: OMIM:120570 ; xref: UNIPROTKB/SWISSPROT:P02746]
Immunodeficiency due to a late component of complements deficiency
Deficiency of complement of terminal pathway
Immunodeficiency due to a C5 to C9 component complement deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150
Gene [OrphaNum:160093 ; Name:Complement component 5 ; Symbol:C5 ; xref: GENATLAS:C5 ; xref: HGNC:1331 ; xref: OMIM:120900 ; xref: UNIPROTKB/SWISSPROT:P01031 ; xref: ENSEMBL:ENSG00000106804 ; xref: REACTOME:P01031]
Gene [OrphaNum:160112 ; Name:Complement component 7 ; Symbol:C7 ; xref: GENATLAS:C7 ; xref: HGNC:1346 ; xref: OMIM:217070 ; xref: UNIPROTKB/SWISSPROT:P10643 ; xref: ENSEMBL:ENSG00000112936 ; xref: REACTOME:P10643]
Gene [OrphaNum:160126 ; Name:Complement component 9 ; Symbol:C9 ; xref: GENATLAS:C9 ; xref: HGNC:1358 ; xref: OMIM:120940 ; xref: UNIPROTKB/SWISSPROT:P02748 ; xref: ENSEMBL:ENSG00000113600 ; xref: REACTOME:P02748]
Gene [OrphaNum:160119 ; Name:Complement component 8, beta polypeptide ; Symbol:C8B ; xref: UNIPROTKB/SWISSPROT:P07358 ; xref: GENATLAS:C8B ; xref: HGNC:1353 ; xref: OMIM:120960 ; xref: ENSEMBL:ENSG00000021852 ; xref: REACTOME:P07358]
Gene [OrphaNum:160117 ; Name:Complement component 8, alpha polypeptide ; Symbol:C8A ; xref: GENATLAS:C8A ; xref: HGNC:1352 ; xref: OMIM:120950 ; xref: UNIPROTKB/SWISSPROT:P07357 ; xref: ENSEMBL:ENSG00000157131 ; xref: REACTOME:P07357]
Gene [OrphaNum:160121 ; Name:Complement component 8, gamma polypeptide ; Symbol:C8G ; xref: GENATLAS:C8G ; xref: HGNC:1354 ; xref: OMIM:120930 ; xref: UNIPROTKB/SWISSPROT:P07360 ; xref: ENSEMBL:ENSG00000176919 ; xref: REACTOME:P07360]
Gene [OrphaNum:160107 ; Name:Complement component 6 ; Symbol:C6 ; xref: GENATLAS:C6 ; xref: HGNC:1339 ; xref: OMIM:217050 ; xref: UNIPROTKB/SWISSPROT:P13671 ; xref: ENSEMBL:ENSG00000039537 ; xref: REACTOME:P13671]
Severe combined immunodeficiency T- B+ due to IL-7Ralpha deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154
Gene [OrphaNum:159734 ; Name:Interleukin 7 receptor ; Symbol:IL7R ; xref: GENATLAS:IL7R ; xref: HGNC:6024 ; xref: OMIM:146661 ; xref: UNIPROTKB/SWISSPROT:P16871 ; xref: ENSEMBL:ENSG00000168685 ; xref: REACTOME:P16871]
Severe combined immunodeficiency T- B+ due to CD45 deficiency
Gene [OrphaNum:118151 ; Name:Protein tyrosine phosphatase, receptor type, C ; Symbol:PTPRC ; xref: GENATLAS:PTPRC ; xref: HGNC:9666 ; xref: OMIM:151460 ; xref: UNIPROTKB/SWISSPROT:P08575 ; xref: ENSEMBL:ENSG00000081237 ; xref: REACTOME:P08575]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157
Severe combined immunodeficiency T- B+ due to CD3delta/CD3epsilon/CD3zeta
Gene [OrphaNum:159200 ; Name:CD3e molecule, epsilon (CD3-TCR complex) ; Symbol:CD3E ; xref: GENATLAS:CD3E ; xref: HGNC:1674 ; xref: OMIM:186830 ; xref: UNIPROTKB/SWISSPROT:P07766 ; xref: ENSEMBL:ENSG00000198851 ; xref: REACTOME:P07766]
Gene [OrphaNum:226144 ; Name:CD247 molecule ; Symbol:CD247 ; xref: GENATLAS:CD247 ; xref: HGNC:1677 ; xref: OMIM:186780 ; xref: UNIPROTKB/SWISSPROT:P20963 ; xref: ENSEMBL:ENSG00000198821 ; xref: REACTOME:P20963]
Gene [OrphaNum:159197 ; Name:CD3d molecule, delta (CD3-TCR complex) ; Symbol:CD3D ; xref: GENATLAS:CD3D ; xref: HGNC:1673 ; xref: OMIM:186790 ; xref: UNIPROTKB/SWISSPROT:P04234 ; xref: ENSEMBL:ENSG00000167286 ; xref: REACTOME:P04234]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163
Autosomal recessive centronuclear myopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186
Gene [OrphaNum:139150 ; Name:Bridging integrator 1 ; Symbol:BIN1 ; xref: GENATLAS:BIN1 ; xref: HGNC:1052 ; xref: OMIM:601248 ; xref: UNIPROTKB/SWISSPROT:O00499 ; xref: ENSEMBL:ENSG00000136717]
Autosomal dominant centronuclear myopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189
Gene [OrphaNum:123603 ; Name:Myogenic factor 6 (herculin) ; Symbol:MYF6 ; xref: GENATLAS:MYF6 ; xref: HGNC:7566 ; xref: OMIM:159991 ; xref: UNIPROTKB/SWISSPROT:P23409 ; xref: ENSEMBL:ENSG00000111046 ; xref: REACTOME:P23409]
Gene [OrphaNum:139178 ; Name:Myotubularin related protein 14 ; Symbol:MTMR14 ; xref: GENATLAS:MTMR14 ; xref: HGNC:26190 ; xref: OMIM:611089 ; xref: UNIPROTKB/SWISSPROT:Q8NCE2 ; xref: ENSEMBL:ENSG00000163719]
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169346
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169349
Immunodeficiency syndrome with autoimmunity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782
Immune dysregulation disease with immunodeficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169361
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169443
Gene [OrphaNum:159075 ; Name:Tyrosine kinase 2 ; Symbol:TYK2 ; xref: ENSEMBL:ENSG00000105397 ; xref: REACTOME:P29597 ; xref: GENATLAS:TYK2 ; xref: HGNC:12440 ; xref: OMIM:176941 ; xref: UNIPROTKB/SWISSPROT:P29597]
Gene [OrphaNum:220922 ; Name:Dedicator of cytokinesis 8 ; Symbol:DOCK8 ; xref: ENSEMBL:ENSG00000107099 ; xref: REACTOME:Q8NF50 ; xref: GENATLAS:DOCK8 ; xref: HGNC:19191 ; xref: OMIM:611432 ; xref: UNIPROTKB/SWISSPROT:Q8NF50]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169446
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784
Gene [OrphaNum:221173 ; Name:CD59 molecule, complement regulatory protein ; Symbol:CD59 ; xref: ENSEMBL:ENSG00000085063 ; xref: GENATLAS:CD59 ; xref: HGNC:1689 ; xref: OMIM:107271 ; xref: UNIPROTKB/SWISSPROT:P13987]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464
Recurrent Neisseria infections due to factor D deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467
Gene [OrphaNum:221187 ; Name:Complement factor D (adipsin) ; Symbol:CFD ; xref: REACTOME:P00746 ; xref: ENSEMBL:ENSG00000197766 ; xref: GENATLAS:CFD ; xref: HGNC:2771 ; xref: OMIM:134350 ; xref: UNIPROTKB/SWISSPROT:P00746]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169615
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169618
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793
Gene [OrphaNum:121683 ; Name:Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) ; Symbol:F9 ; xref: GENATLAS:F9 ; xref: HGNC:3551 ; xref: OMIM:300746 ; xref: UNIPROTKB/SWISSPROT:P00740 ; xref: ENSEMBL:ENSG00000101981 ; xref: REACTOME:P00740]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799
Gene [OrphaNum:121677 ; Name:Coagulation factor VIII, procoagulant component (hemophilia A) ; Symbol:F8 ; xref: GENATLAS:F8 ; xref: HGNC:3546 ; xref: UNIPROTKB/SWISSPROT:P00451 ; xref: OMIM:300841 ; xref: REACTOME:P00451 ; xref: ENSEMBL:ENSG00000185010]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802
Moderately severe factor VIII deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808
Congenital vitamin K-dependent coagulation factors deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169826
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171201
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171208
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171215
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220
Gene [OrphaNum:117750 ; Name:Actin, alpha 1, skeletal muscle ; Symbol:ACTA1 ; xref: GENATLAS:ACTA1 ; xref: HGNC:129 ; xref: OMIM:102610 ; xref: UNIPROTKB/SWISSPROT:P68133 ; xref: ENSEMBL:ENSG00000143632 ; xref: REACTOME:P68133]
Gene [OrphaNum:123749 ; Name:Nebulin ; Symbol:NEB ; xref: GENATLAS:NEB ; xref: HGNC:7720 ; xref: OMIM:161650 ; xref: UNIPROTKB/SWISSPROT:P20929 ; xref: ENSEMBL:ENSG00000183091 ; xref: REACTOME:P20929]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433
Gene [OrphaNum:120227 ; Name:Tropomyosin 3 ; Symbol:TPM3 ; xref: GENATLAS:TPM3 ; xref: HGNC:12012 ; xref: OMIM:191030 ; xref: UNIPROTKB/SWISSPROT:P06753 ; xref: REACTOME:P06753 ; xref: ENSEMBL:ENSG00000143549]
Gene [OrphaNum:120223 ; Name:Tropomyosin 2 (beta) ; Symbol:TPM2 ; xref: GENATLAS:TPM2 ; xref: HGNC:12011 ; xref: OMIM:190990 ; xref: UNIPROTKB/SWISSPROT:P07951 ; xref: ENSEMBL:ENSG00000198467 ; xref: REACTOME:P07951]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607
Gene [OrphaNum:180324 ; Name:Spastic paraplegia 34 (autosomal dominant) ; Symbol:SPG34 ; xref: HGNC:32944 ; xref: OMIM:300750]
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- X-linked recessive;
Autosomal dominant spastic paraplegia type 37
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612
Gene [OrphaNum:180240 ; Name:Spastic paraplegia 37 (autosomal dominant) ; Symbol:SPG37 ; xref: HGNC:33472 ; xref: OMIM:611945]
Autosomal dominant spastic paraplegia type 38
Gene [OrphaNum:180245 ; Name:Spastic paraplegia 38 (autosomal dominant, Silver syndrome) ; Symbol:SPG38 ; xref: HGNC:33485 ; xref: OMIM:612335]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617
Autosomal recessive spastic paraplegia type 32
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622
Gene [OrphaNum:180318 ; Name:Spastic paraplegia 32 (autosomal recessive) ; Symbol:SPG32 ; xref: HGNC:32314 ; xref: OMIM:611252]
Autosomal recessive spastic paraplegia type 35
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680
Gene [OrphaNum:159394 ; Name:Tubulin, alpha 1a ; Symbol:TUBA1A ; xref: GENATLAS:TUBA1A ; xref: HGNC:20766 ; xref: OMIM:602529 ; xref: UNIPROTKB/SWISSPROT:Q71U36 ; xref: REACTOME:Q71U36 ; xref: ENSEMBL:ENSG00000167552]
Metabolic myopathy due to lactate transporter defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690
Gene [OrphaNum:181111 ; Name:F-box protein 7 ; Symbol:FBXO7 ; xref: GENATLAS:FBXO7 ; xref: HGNC:13586 ; xref: OMIM:605648 ; xref: UNIPROTKB/SWISSPROT:Q9Y3I1 ; xref: ENSEMBL:ENSG00000100225]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794
Microcephaly - polymicrogyria - corpus callosum agenesis
Gene [OrphaNum:181116 ; Name:Eomesodermin homolog (Xenopus laevis) ; Symbol:EOMES ; xref: GENATLAS:EOMES ; xref: HGNC:3372 ; xref: OMIM:604615 ; xref: UNIPROTKB/SWISSPROT:O95936 ; xref: ENSEMBL:ENSG00000163508]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Gene [OrphaNum:181119 ; Name:SECIS binding protein 2 ; Symbol:SECISBP2 ; xref: GENATLAS:SECISBP2 ; xref: HGNC:30972 ; xref: OMIM:607693 ; xref: UNIPROTKB/SWISSPROT:Q96T21 ; xref: ENSEMBL:ENSG00000187742]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709
prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:265487 ; Name:dpy-19-like 2 (C. elegans) ; Symbol:DPY19L2 ; xref: ENSEMBL:ENSG00000177990 ; xref: OMIM:613893 ; xref: HGNC:19414 ; xref: GENATLAS:DPY19L2 ; xref: UNIPROTKB/SWISSPROT:Q6NUT2]
Gene [OrphaNum:181121 ; Name:Spermatogenesis associated 16 ; Symbol:SPATA16 ; xref: GENATLAS:SPATA16 ; xref: HGNC:29935 ; xref: OMIM:609856 ; xref: UNIPROTKB/SWISSPROT:Q0R2U2 ; xref: ENSEMBL:ENSG00000144962]
infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171714
Gene [OrphaNum:181124 ; Name:ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ; Symbol:ST3GAL5 ; xref: GENATLAS:ST3GAL5 ; xref: HGNC:10872 ; xref: OMIM:604402 ; xref: UNIPROTKB/SWISSPROT:Q9UNP4 ; xref: ENSEMBL:ENSG00000115525]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723
Gene [OrphaNum:181140 ; Name:Keratin 13 ; Symbol:KRT13 ; xref: ENSEMBL:ENSG00000171401 ; xref: GENATLAS:KRT13 ; xref: HGNC:6415 ; xref: OMIM:148065 ; xref: UNIPROTKB/SWISSPROT:P13646]
Gene [OrphaNum:181135 ; Name:Keratin 4 ; Symbol:KRT4 ; xref: ENSEMBL:ENSG00000170477 ; xref: GENATLAS:KRT4 ; xref: HGNC:6441 ; xref: OMIM:123940 ; xref: UNIPROTKB/SWISSPROT:P19013]
Prader-Willi-like syndrome due to deletion 6q16
Gene [OrphaNum:158398 ; Name:Single-minded homolog 1 (Drosophila) ; Symbol:SIM1 ; xref: GENATLAS:SIM1 ; xref: HGNC:10882 ; xref: OMIM:603128 ; xref: UNIPROTKB/SWISSPROT:P81133 ; xref: ENSEMBL:ENSG00000112246]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
Amelogenesis imperfecta and gingival hyperplasia syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171836
Gene [OrphaNum:269646 ; Name:family with sequence similarity 20, member A ; Symbol:FAM20A ; xref: ENSEMBL:ENSG00000108950 ; xref: HGNC:23015 ; xref: OMIM:611062 ; xref: GENATLAS:FAM20A ; xref: UNIPROTKB/SWISSPROT:Q96MK3]
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis
Familial scaphocephaly - radioulnar synostosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844
Autosomal dominant osteosclerosis, Stanescu type
Craniofacial dysostosis - diaphyseal hyperplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798
Peripheral neuropathy, Fiskerstrand type
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Gene [OrphaNum:239970 ; Name:Abhydrolase domain containing 12 ; Symbol:ABHD12 ; xref: OMIM:613599 ; xref: GENATLAS:ABHD12 ; xref: HGNC:15868 ; xref: UNIPROTKB/SWISSPROT:Q8N2K0 ; xref: ENSEMBL:ENSG00000100997]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848
Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia
Gene [OrphaNum:178120 ; Name:Adaptor-related protein complex 1, sigma 1 subunit ; Symbol:AP1S1 ; xref: GENATLAS:AP1S1 ; xref: HGNC:559 ; xref: REACTOME:P61966 ; xref: OMIM:603531 ; xref: UNIPROTKB/SWISSPROT:P61966 ; xref: ENSEMBL:ENSG00000106367]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851
Leukodystrophy - spastic paraplegia - dystonia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171857
Intellectual deficit - cataracts - kyphosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171860
Autosomal dominant spastic paraplegia type 42
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863
Gene [OrphaNum:180215 ; Name:Solute carrier family 33 (acetyl-CoA transporter), member 1 ; Symbol:SLC33A1 ; xref: ENSEMBL:ENSG00000169359 ; xref: GENATLAS:SLC33A1 ; xref: HGNC:95 ; xref: OMIM:603690 ; xref: UNIPROTKB/SWISSPROT:O00400 ; xref: REACTOME:O00400]
Spondyloepimetaphyseal dysplasia, aggrecan type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866
Autosomal dominant pseudohypoaldosteronism type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Generalized pseudohypoaldosteronism type 1
Autosomal recessive pseudohypoaldosteronism type 1
Gene [OrphaNum:118536 ; Name:Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) ; Symbol:SCNN1B ; xref: GENATLAS:SCNN1B ; xref: HGNC:10600 ; xref: OMIM:600760 ; xref: UNIPROTKB/SWISSPROT:P51168 ; xref: ENSEMBL:ENSG00000168447]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876
Gene [OrphaNum:118532 ; Name:Sodium channel, nonvoltage-gated 1 alpha ; Symbol:SCNN1A ; xref: UNIPROTKB/SWISSPROT:P37088 ; xref: GENATLAS:SCNN1A ; xref: HGNC:10599 ; xref: OMIM:600228 ; xref: ENSEMBL:ENSG00000111319]
Gene [OrphaNum:118539 ; Name:Sodium channel, nonvoltage-gated 1, gamma ; Symbol:SCNN1G ; xref: GENATLAS:SCNN1G ; xref: HGNC:10602 ; xref: OMIM:600761 ; xref: UNIPROTKB/SWISSPROT:P51170 ; xref: ENSEMBL:ENSG00000166828]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171886
Myopathy with hexagonally cross-linked tubular arrays
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171889
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172976
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801
Gene [OrphaNum:137959 ; Name:Thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) ; Symbol:TBXAS1 ; xref: GENATLAS:TBXAS1 ; xref: HGNC:11609 ; xref: OMIM:274180 ; xref: UNIPROTKB/SWISSPROT:P24557 ; xref: ENSEMBL:ENSG00000059377 ; xref: REACTOME:P24557]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802
Congenital hypogonadotropic hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177101
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to translocation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907
Prader-Willi syndrome due to imprinting mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910
Symptomatic form of hemophilia A in female carriers
prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926
Symptomatic form of hemophilia B in female carriers
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929
Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029
Hepatic glycogen phosphorylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369
Gene [OrphaNum:118180 ; Name:Phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI) ; Symbol:PYGL ; xref: GENATLAS:PYGL ; xref: HGNC:9725 ; xref: OMIM:613741 ; xref: UNIPROTKB/SWISSPROT:P06737 ; xref: REACTOME:P06737 ; xref: ENSEMBL:ENSG00000100504]
X-linked anhidrotic ectodermal dysplasia
X-linked hypohidrotic ectodermal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181
Gene [OrphaNum:121263 ; Name:Ectodysplasin A ; Symbol:EDA ; xref: HGNC:3157 ; xref: OMIM:300451 ; xref: UNIPROTKB/SWISSPROT:Q92838 ; xref: GENATLAS:EDA ; xref: ENSEMBL:ENSG00000158813]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1804
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178040
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178045
Moderate multiminicore disease with hand involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145
Antenatal multiminicore disease with congenital arthrogryposis multiplex
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178330
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333
Gene [OrphaNum:119148 ; Name:Calcium channel, voltage-dependent, L type, alpha 1F subunit ; Symbol:CACNA1F ; xref: GENATLAS:CACNA1F ; xref: HGNC:1393 ; xref: OMIM:300110 ; xref: UNIPROTKB/SWISSPROT:O60840 ; xref: IUPHAR:531 ; xref: ENSEMBL:ENSG00000102001 ; xref: REACTOME:O60840]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338
Gene [OrphaNum:302946 ; Name:UV-stimulated scaffold protein A ; Symbol:UVSSA ; xref: HGNC:29304 ; xref: OMIM:614632 ; xref: GENATLAS:KIAA1530 ; xref: UNIPROTKB/SWISSPROT:Q2YD98]
Gene [OrphaNum:120969 ; Name:Cytochrome P450, family 19, subfamily A, polypeptide 1 ; Symbol:CYP19A1 ; xref: GENATLAS:CYP19A1 ; xref: HGNC:2594 ; xref: OMIM:107910 ; xref: UNIPROTKB/SWISSPROT:P11511 ; xref: REACTOME:P11511 ; xref: ENSEMBL:ENSG00000137869]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345
Gene [OrphaNum:121241 ; Name:Dymeclin ; Symbol:DYM ; xref: ENSEMBL:ENSG00000141627 ; xref: GENATLAS:DYM ; xref: HGNC:21317 ; xref: OMIM:607461 ; xref: UNIPROTKB/SWISSPROT:Q7RTS9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808
Syndromic microphthalmia/anophthalmia due to OTX2 mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364
Osteosclerosis - developmental delay - craniosynostosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377
Gene [OrphaNum:123115 ; Name:Low density lipoprotein receptor-related protein 5 ; Symbol:LRP5 ; xref: UNIPROTKB/SWISSPROT:O75197 ; xref: GENATLAS:LRP5 ; xref: HGNC:6697 ; xref: OMIM:603506 ; xref: ENSEMBL:ENSG00000162337]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis type 7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389
Hemorrhagic disease due to alpha-1 antitrypsin Pittsburgh mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396
Gene [OrphaNum:118602 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 ; Symbol:SERPINA1 ; xref: GENATLAS:SERPINA1 ; xref: HGNC:8941 ; xref: OMIM:107400 ; xref: UNIPROTKB/SWISSPROT:P01009 ; xref: ENSEMBL:ENSG00000197249 ; xref: REACTOME:P01009]
Distal myopathy with anterior tibial onset
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400
X-linked myopathy with postural muscle atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461
Hereditary myopathy with early respiratory failure
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464
Autosomal dominant nonsyndromic intellectual deficit
Gene [OrphaNum:282786 ; Name:Glutamate receptor, ionotropic, N-methyl D-aspartate 1 ; Symbol:GRIN1 ; xref: REACTOME:Q05586 ; xref: ENSEMBL:ENSG00000176884 ; xref: HGNC:4584 ; xref: OMIM:138249 ; xref: GENATLAS:GRIN1 ; xref: UNIPROTKB/SWISSPROT:Q05586]
Gene [OrphaNum:270014 ; Name:dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A ; Symbol:DYRK1A ; xref: UNIPROTKB/SWISSPROT:Q13627 ; xref: ENSEMBL:ENSG00000157540 ; xref: REACTOME:Q13627 ; xref: HGNC:3091 ; xref: OMIM:600855 ; xref: GENATLAS:DYRK1A]
Gene [OrphaNum:293085 ; Name:Calcium channel, voltage-dependent, gamma subunit 2 ; Symbol:CACNG2 ; xref: HGNC:1406 ; xref: OMIM:602911 ; xref: GENATLAS:CACNG2 ; xref: UNIPROTKB/SWISSPROT:Q9Y698]
Gene [OrphaNum:188809 ; Name:Synaptic Ras GTPase activating protein 1 homolog (rat) ; Symbol:SYNGAP1 ; xref: OMIM:603384 ; xref: UNIPROTKB/SWISSPROT:Q96PV0 ; xref: GENATLAS:SYNGAP1 ; xref: HGNC:11497 ; xref: ENSEMBL:ENSG00000197283]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469
Gene [OrphaNum:266126 ; Name:glutamate receptor, ionotropic, N-methyl D-aspartate 2B ; Symbol:GRIN2B ; xref: ENSEMBL:ENSG00000150086 ; xref: OMIM:138252 ; xref: UNIPROTKB/SWISSPROT:Q13224 ; xref: REACTOME:Q13224 ; xref: IUPHAR:457 ; xref: HGNC:4586 ; xref: GENATLAS:GRIN2B]
Gene [OrphaNum:244206 ; Name:Methyl-CpG binding domain protein 5 ; Symbol:MBD5 ; xref: UNIPROTKB/SWISSPROT:Q9P267 ; xref: ENSEMBL:ENSG00000204406 ; xref: HGNC:20444 ; xref: GENATLAS:MBD5 ; xref: OMIM:611472]
Gene [OrphaNum:284237 ; Name:Dynein, cytoplasmic 1, heavy chain 1 ; Symbol:DYNC1H1 ; xref: ENSEMBL:ENSG00000197102 ; xref: REACTOME:Q14204 ; xref: HGNC:2961 ; xref: OMIM:600112 ; xref: GENATLAS:DYNC1H1 ; xref: UNIPROTKB/SWISSPROT:Q14204]
Gene [OrphaNum:199894 ; Name:Cadherin 15, type 1, M-cadherin (myotubule) ; Symbol:CDH15 ; xref: GENATLAS:CDH15 ; xref: HGNC:1754 ; xref: OMIM:114019 ; xref: UNIPROTKB/SWISSPROT:P55291 ; xref: ENSEMBL:ENSG00000129910 ; xref: REACTOME:P55291]
Gene [OrphaNum:199900 ; Name:Kin of IRRE like 3 (Drosophila) ; Symbol:KIRREL3 ; xref: GENATLAS:KIRREL3 ; xref: HGNC:23204 ; xref: OMIM:607761 ; xref: UNIPROTKB/SWISSPROT:Q8IZU9 ; xref: ENSEMBL:ENSG00000149571 ; xref: REACTOME:Q8IZU9]
Gene [OrphaNum:293091 ; Name:Erythrocyte membrane protein band 4.1-like 1 ; Symbol:EPB41L1 ; xref: HGNC:3378 ; xref: OMIM:602879 ; xref: GENATLAS:EPB41L1 ; xref: UNIPROTKB/SWISSPROT:Q9H4G0]
Hidrotic ectodermal dysplasia, Halal type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178493
Gene [OrphaNum:117605 ; Name:Septin 9 ; Symbol:SEPT9 ; xref: GENATLAS:SEPT9 ; xref: HGNC:7323 ; xref: OMIM:604061 ; xref: UNIPROTKB/SWISSPROT:Q9UHD8 ; xref: ENSEMBL:ENSG00000184640]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178498
Pulmonary arterial hypertension - leukopenia - atrial septal defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178503
Gene [OrphaNum:171034 ; Name:Glucose 6 phosphatase, catalytic, 3 ; Symbol:G6PC3 ; xref: GENATLAS:G6PC3 ; xref: HGNC:24861 ; xref: OMIM:611045 ; xref: UNIPROTKB/SWISSPROT:Q9BUM1 ; xref: ENSEMBL:ENSG00000141349 ; xref: REACTOME:Q9BUM1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811
Ectodermal dysplasia - intellectual deficit - central nervous system malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179006
Obesity due to congenital leptin resistance
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490
Obesity due to leptin receptor gene deficiency
Gene [OrphaNum:123038 ; Name:Leptin receptor ; Symbol:LEPR ; xref: GENATLAS:LEPR ; xref: HGNC:6554 ; xref: OMIM:601007 ; xref: UNIPROTKB/SWISSPROT:P48357 ; xref: ENSEMBL:ENSG00000116678]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494
Partial bilateral aplasia of the Müllerian duct
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068
Unilateral aplasia of the Müllerian duct
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071
Complete unilateral aplasia of the Müllerian duct
Unicornuate uterus without rudimentary horn
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074
Incomplete unilateral aplasia of the Müllerian duct
Unicornuate uterus with rudimentary horn
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251
Spondyloepiphyseal dysplasia - nephrotic syndrome
Gene [OrphaNum:119731 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ; Symbol:SMARCAL1 ; xref: GENATLAS:SMARCAL1 ; xref: HGNC:11102 ; xref: OMIM:606622 ; xref: UNIPROTKB/SWISSPROT:Q9NZC9 ; xref: ENSEMBL:ENSG00000138375]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830
Iris dysplasia - hypertelorism - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1831
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836
Malformative syndrome with dentinogenesis imperfecta
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180766
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181368
Metaphyseal dysplasia without hypotrichosis
Cartilage-hair hypoplasia-like - skeletal dysplasia without hypotrichosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1838
Syndrome with hypogonadotropic hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387
Hypogonadotropic hypogonadism associated with other endocrinopathies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181393
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181396
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181399
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181402
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181412
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181419
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181425
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431
Gene [OrphaNum:247151 ; Name:Angiopoietin-like 3 ; Symbol:ANGPTL3 ; xref: ENSEMBL:ENSG00000132855 ; xref: GENATLAS:ANGPTL3 ; xref: HGNC:491 ; xref: UNIPROTKB/SWISSPROT:Q9Y5C1 ; xref: OMIM:604774]
Gene [OrphaNum:121386 ; Name:Apolipoprotein B (including Ag(x) antigen) ; Symbol:APOB ; xref: ENSEMBL:ENSG00000084674 ; xref: REACTOME:P04114 ; xref: GENATLAS:APOB ; xref: HGNC:603 ; xref: OMIM:107730 ; xref: UNIPROTKB/SWISSPROT:P04114]
Gene [OrphaNum:124137 ; Name:Proprotein convertase subtilisin/kexin type 9 ; Symbol:PCSK9 ; xref: GENATLAS:PCSK9 ; xref: HGNC:20001 ; xref: OMIM:607786 ; xref: UNIPROTKB/SWISSPROT:Q8NBP7 ; xref: ENSEMBL:ENSG00000169174]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181434
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181441
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182040
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182043
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050
Neuropathy - ataxia - retinitis pigmentosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644
prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Syndromic neurometabolic disease with non-X-linked intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182073
Syndromic neurometabolic disease with X-linked intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182076
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182079
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182083
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182734
Polymalformative genetic syndrome with increased risk of develop cancer
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183426
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183435
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183438
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183441
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183444
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183447
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183450
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183454
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183460
Genetic pigmentation anomaly of the skin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183463
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183466
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183469
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183472
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183478
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183481
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183484
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183487
Renal dysplasia - megalocystis - sirenomelia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1850
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183490
Genetic immune deficiency with skin involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183494
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183497
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183500
Genetic central nervous system and retinal vascular disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183503
Genetic central nervous system malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183506
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183509
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183512
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183515
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183518
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1852
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183521
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183524
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183527
Rare genetic developmental defect during embryogenesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183530
Genetic multiple congenital anomalies/dysmorphic syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183533
Genetic renal or urinary tract malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183539
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183542
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183545
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183548
Genetic external or internal genital malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183551
Genetic respiratory or mediastinal malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183554
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183557
Genetic malformation syndrome with short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183570
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183573
Genetic branchial arch or oral-acral syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183576
Genetic malformation syndrome with odontal and/or periodontal component
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183580
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183583
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183586
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183589
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183592
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183595
Rare genetic palpebral, lacrimal system and conjunctival disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183598
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183601
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183604
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183607
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183616
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183619
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183622
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183625
Rare genetic hypothalamic or pituitary disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183628
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183631
Rare genetic parathyroid disease and phosphocalcic metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183634
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183637
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183640
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183643
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637
Genetic disorder of sex development of endocrine origin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183648
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183651
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183654
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660
Hyper-IgM syndrome with susceptibility to opportunistic infections
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663
Hyper-IgM syndrome without susceptibility to opportunistic infections
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183666
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183669
Common variable immunodeficiency due to TNFR deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183672
Gene [OrphaNum:120169 ; Name:Tumor necrosis factor receptor superfamily, member 13B ; Symbol:TNFRSF13B ; xref: GENATLAS:TNFRSF13B ; xref: HGNC:18153 ; xref: OMIM:604907 ; xref: UNIPROTKB/SWISSPROT:O14836 ; xref: ENSEMBL:ENSG00000240505]
Gene [OrphaNum:231494 ; Name:Tumor necrosis factor receptor superfamily, member 13C ; Symbol:TNFRSF13C ; xref: HGNC:17755 ; xref: UNIPROTKB/SWISSPROT:Q96RJ3 ; xref: OMIM:606269 ; xref: ENSEMBL:ENSG00000159958 ; xref: GENATLAS:TNFRSF13C]
Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675
Gene [OrphaNum:270009 ; Name:immunoglobulin kappa constant ; Symbol:IGKC ; xref: HGNC:5716 ; xref: OMIM:147200 ; xref: UNIPROTKB/SWISSPROT:P01834 ; xref: ENSEMBL:ENSG00000211592 ; xref: REACTOME:P01834 ; xref: GENATLAS:IGKC]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Unknown;
Gene [OrphaNum:221192 ; Name:Immunoglobulin heavy constant gamma 2 (G2m marker) ; Symbol:IGHG2 ; xref: REACTOME:P01859 ; xref: ENSEMBL:ENSG00000211893 ; xref: GENATLAS:IGHG2 ; xref: HGNC:5526 ; xref: OMIM:147110 ; xref: UNIPROTKB/SWISSPROT:P01859]
Hermansky-Pudlak syndrome with neutropenia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678
Gene [OrphaNum:121374 ; Name:Adaptor-related protein complex 3, beta 1 subunit ; Symbol:AP3B1 ; xref: GENATLAS:AP3B1 ; xref: HGNC:566 ; xref: OMIM:603401 ; xref: UNIPROTKB/SWISSPROT:O00203 ; xref: REACTOME:O00203 ; xref: ENSEMBL:ENSG00000132842]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183681
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707
Gene [OrphaNum:204411 ; Name:Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) ; Symbol:RAC2 ; xref: REACTOME:P15153 ; xref: GENATLAS:RAC2 ; xref: HGNC:9802 ; xref: OMIM:602049 ; xref: UNIPROTKB/SWISSPROT:P15153 ; xref: ENSEMBL:ENSG00000128340]
Predisposition to invasive bacterial infections
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183710
Pyogenic bacterial infections due to MyD88 deficiency
Gene [OrphaNum:201114 ; Name:Myeloid differentiation primary response gene (88) ; Symbol:MYD88 ; xref: GENATLAS:MYD88 ; xref: HGNC:7562 ; xref: OMIM:602170 ; xref: UNIPROTKB/SWISSPROT:Q99836 ; xref: ENSEMBL:ENSG00000172936 ; xref: REACTOME:Q99836]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183713
Other complex syndrome of primary immunodeficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183716
Rare genetic gynecological and obstetrical diseases
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183731
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183734
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183757
Rare genetic intellectual deficit with developmental anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183763
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183770
Skeletal dysplasia - epilepsy - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860
Primary pigmented nodular adrenocortical disease
Gene [OrphaNum:169910 ; Name:Phosphodiesterase 11A ; Symbol:PDE11A ; xref: GENATLAS:PDE11A ; xref: HGNC:8773 ; xref: OMIM:604961 ; xref: UNIPROTKB/SWISSPROT:Q9HCR9 ; xref: REACTOME:Q9HCR9 ; xref: ENSEMBL:ENSG00000128655]
Gene [OrphaNum:226016 ; Name:Phosphodiesterase 8B ; Symbol:PDE8B ; xref: HGNC:8794 ; xref: GENATLAS:PDE8B ; xref: OMIM:603390 ; xref: UNIPROTKB/SWISSPROT:O95263 ; xref: ENSEMBL:ENSG00000113231 ; xref: REACTOME:O95263]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189439
Familial isolated hypoparathyroidism due to impaired PTH secretion
Gene [OrphaNum:118138 ; Name:Parathyroid hormone ; Symbol:PTH ; xref: GENATLAS:PTH ; xref: HGNC:9606 ; xref: OMIM:168450 ; xref: UNIPROTKB/SWISSPROT:P01270 ; xref: REACTOME:P01270 ; xref: ENSEMBL:ENSG00000152266]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466
prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199237
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199244
Corticosteroid-binding globulin deficiency
Gene [OrphaNum:201291 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 ; Symbol:SERPINA6 ; xref: ENSEMBL:ENSG00000170099 ; xref: GENATLAS:SERPINA6 ; xref: HGNC:1540 ; xref: OMIM:122500 ; xref: UNIPROTKB/SWISSPROT:P08185]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199279
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282
Hereditary hypercarotenemia and vitamin A deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285
Gene [OrphaNum:204452 ; Name:Beta-carotene 15,15'-monooxygenase 1 ; Symbol:BCMO1 ; xref: ENSEMBL:ENSG00000135697 ; xref: REACTOME:Q9HAY6 ; xref: GENATLAS:BCMO1 ; xref: HGNC:13815 ; xref: OMIM:605748 ; xref: UNIPROTKB/SWISSPROT:Q9HAY6]
Dyssegmental dysplasia, Silverman-Handmaker type
Gene [OrphaNum:122547 ; Name:Heparan sulfate proteoglycan 2 ; Symbol:HSPG2 ; xref: GENATLAS:HSPG2 ; xref: HGNC:5273 ; xref: OMIM:142461 ; xref: UNIPROTKB/SWISSPROT:P98160 ; xref: ENSEMBL:ENSG00000142798 ; xref: REACTOME:P98160]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296
Gene [OrphaNum:119955 ; Name:T-box 19 ; Symbol:TBX19 ; xref: GENATLAS:TBX19 ; xref: HGNC:11596 ; xref: OMIM:604614 ; xref: UNIPROTKB/SWISSPROT:O60806 ; xref: ENSEMBL:ENSG00000143178]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310
Familial clubfoot with or without associated lower limb anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318
Gene [OrphaNum:264663 ; Name:cholinergic receptor, nicotinic, alpha 7 ; Symbol:CHRNA7 ; xref: IUPHAR:468 ; xref: ENSEMBL:ENSG00000175344 ; xref: REACTOME:P36544 ; xref: HGNC:1960 ; xref: OMIM:118511 ; xref: GENATLAS:CHRNA7 ; xref: UNIPROTKB/SWISSPROT:P36544]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329
Endocrine-cerebro-osteodysplasia syndrome
Gene [OrphaNum:201496 ; Name:Intestinal cell (MAK-like) kinase ; Symbol:ICK ; xref: GENATLAS:ICK ; xref: HGNC:21219 ; xref: OMIM:612325 ; xref: UNIPROTKB/SWISSPROT:Q9UPZ9 ; xref: ENSEMBL:ENSG00000112144]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332
Pancreatic insufficiency - anemia - hyperostosis
Gene [OrphaNum:201488 ; Name:Cytochrome c oxidase subunit IV isoform 2 (lung) ; Symbol:COX4I2 ; xref: GENATLAS:COX4I2 ; xref: HGNC:16232 ; xref: OMIM:607976 ; xref: UNIPROTKB/SWISSPROT:Q96KJ9 ; xref: ENSEMBL:ENSG00000131055]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340
Gene [OrphaNum:201494 ; Name:BCL2-associated athanogene 3 ; Symbol:BAG3 ; xref: ENSEMBL:ENSG00000151929 ; xref: GENATLAS:BAG3 ; xref: HGNC:939 ; xref: OMIM:603883 ; xref: UNIPROTKB/SWISSPROT:O95817]
Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354
Gene [OrphaNum:138706 ; Name:HtrA serine peptidase 1 ; Symbol:HTRA1 ; xref: GENATLAS:HTRA1 ; xref: HGNC:9476 ; xref: OMIM:602194 ; xref: UNIPROTKB/SWISSPROT:Q92743 ; xref: ENSEMBL:ENSG00000166033]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871
Gene [OrphaNum:122333 ; Name:Guanylate cyclase activator 1A (retina) ; Symbol:GUCA1A ; xref: GENATLAS:GUCA1A ; xref: HGNC:4678 ; xref: OMIM:600364 ; xref: UNIPROTKB/SWISSPROT:P43080 ; xref: ENSEMBL:ENSG00000048545]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872
Gene [OrphaNum:244385 ; Name:Cadherin-related family member 1 ; Symbol:CDHR1 ; xref: HGNC:14550 ; xref: GENATLAS:CDHR1 ; xref: OMIM:609502 ; xref: UNIPROTKB/SWISSPROT:Q96JP9 ; xref: ENSEMBL:ENSG00000148600]
Gene [OrphaNum:122340 ; Name:Guanylate cyclase 2D, membrane (retina-specific) ; Symbol:GUCY2D ; xref: GENATLAS:GUCY2D ; xref: HGNC:4689 ; xref: OMIM:600179 ; xref: UNIPROTKB/SWISSPROT:Q02846 ; xref: ENSEMBL:ENSG00000132518]
Gene [OrphaNum:118319 ; Name:Regulating synaptic membrane exocytosis 1 ; Symbol:RIMS1 ; xref: GENATLAS:RIMS1 ; xref: HGNC:17282 ; xref: OMIM:606629 ; xref: UNIPROTKB/SWISSPROT:Q86UR5 ; xref: ENSEMBL:ENSG00000079841 ; xref: REACTOME:Q86UR5]
Gene [OrphaNum:138702 ; Name:Retina and anterior neural fold homeobox 2 ; Symbol:RAX2 ; xref: GENATLAS:RAX2 ; xref: HGNC:18286 ; xref: OMIM:610362 ; xref: UNIPROTKB/SWISSPROT:Q96IS3 ; xref: ENSEMBL:ENSG00000173976]
Gene [OrphaNum:160327 ; Name:PITPNM family member 3 ; Symbol:PITPNM3 ; xref: ENSEMBL:ENSG00000091622 ; xref: GENATLAS:PITPNM3 ; xref: HGNC:21043 ; xref: OMIM:608921 ; xref: UNIPROTKB/SWISSPROT:Q9BZ71]
Gene [OrphaNum:201516 ; Name:ADAM metallopeptidase domain 9 (meltrin gamma) ; Symbol:ADAM9 ; xref: ENSEMBL:ENSG00000168615 ; xref: GENATLAS:ADAM9 ; xref: HGNC:216 ; xref: OMIM:602713 ; xref: UNIPROTKB/SWISSPROT:Q13443]
Gene [OrphaNum:119559 ; Name:Aryl hydrocarbon receptor interacting protein-like 1 ; Symbol:AIPL1 ; xref: GENATLAS:AIPL1 ; xref: HGNC:359 ; xref: OMIM:604392 ; xref: UNIPROTKB/SWISSPROT:Q9NZN9 ; xref: ENSEMBL:ENSG00000129221]
Gene [OrphaNum:227401 ; Name:Unc-119 homolog (C. elegans) ; Symbol:UNC119 ; xref: HGNC:12565 ; xref: OMIM:604011 ; xref: UNIPROTKB/SWISSPROT:Q13432 ; xref: GENATLAS:UNC119 ; xref: ENSEMBL:ENSG00000109103]
Gene [OrphaNum:160128 ; Name:Calcium channel, voltage-dependent, alpha 2/delta subunit 4 ; Symbol:CACNA2D4 ; xref: ENSEMBL:ENSG00000151062 ; xref: GENATLAS:CACNA2D4 ; xref: HGNC:20202 ; xref: OMIM:608171 ; xref: UNIPROTKB/SWISSPROT:Q7Z3S7]
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Gene [OrphaNum:120822 ; Name:Cone-rod homeobox ; Symbol:CRX ; xref: GENATLAS:CRX ; xref: HGNC:2383 ; xref: OMIM:602225 ; xref: UNIPROTKB/SWISSPROT:O43186 ; xref: ENSEMBL:ENSG00000105392]
Gene [OrphaNum:288971 ; Name:Chromosome 8 open reading frame 37 ; Symbol:C8ORF37 ; xref: ENSEMBL:ENSG00000156172 ; xref: UNIPROTKB/SWISSPROT:Q96NL8 ; xref: HGNC:27232 ; xref: OMIM:614477 ; xref: GENATLAS:C8orf37]
Gene [OrphaNum:118388 ; Name:Retinitis pigmentosa GTPase regulator interacting protein 1 ; Symbol:RPGRIP1 ; xref: GENATLAS:RPGRIP1 ; xref: HGNC:13436 ; xref: OMIM:605446 ; xref: UNIPROTKB/SWISSPROT:Q96KN7 ; xref: ENSEMBL:ENSG00000092200]
Gene [OrphaNum:158388 ; Name:Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ; Symbol:SEMA4A ; xref: REACTOME:Q9H3S1 ; xref: GENATLAS:SEMA4A ; xref: HGNC:10729 ; xref: OMIM:607292 ; xref: UNIPROTKB/SWISSPROT:Q9H3S1 ; xref: ENSEMBL:ENSG00000196189]
Cone rod dystrophy - amelogenesis imperfecta
Gene [OrphaNum:178795 ; Name:Cyclin M4 ; Symbol:CNNM4 ; xref: GENATLAS:CNNM4 ; xref: HGNC:105 ; xref: OMIM:607805 ; xref: UNIPROTKB/SWISSPROT:Q6P4Q7 ; xref: ENSEMBL:ENSG00000158158]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873
Congenital muscular dystrophy - infantile cataract - hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879
Anomaly of puberty or/and menstrual cycle of genetic origin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202940
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202948
Ectodermal dysplasia - arthrogryposis - diabetes mellitus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1881
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428
Gene [OrphaNum:121995 ; Name:Galactosylceramidase ; Symbol:GALC ; xref: GENATLAS:GALC ; xref: HGNC:4115 ; xref: OMIM:606890 ; xref: UNIPROTKB/SWISSPROT:P54803 ; xref: ENSEMBL:ENSG00000054983 ; xref: REACTOME:P54803]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436
Late-infantile or juvenile Krabbe disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882
Ectodermal dysplasia - sensorineural deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive;
Autosomal recessive limb-girdle muscular dystrophy type 2L
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549
Autosomal recessive limb-girdle muscular dystrophy type 2M
Gene [OrphaNum:121775 ; Name:Fukutin ; Symbol:FKTN ; xref: GENATLAS:FKTN ; xref: HGNC:3622 ; xref: OMIM:607440 ; xref: UNIPROTKB/SWISSPROT:O75072 ; xref: ENSEMBL:ENSG00000106692]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554
Autosomal recessive limb-girdle muscular dystrophy type 2N
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559
Gene [OrphaNum:117942 ; Name:Protein-O-mannosyltransferase 2 ; Symbol:POMT2 ; xref: GENATLAS:POMT2 ; xref: HGNC:19743 ; xref: OMIM:607439 ; xref: UNIPROTKB/SWISSPROT:Q9UKY4 ; xref: ENSEMBL:ENSG00000009830]
Autosomal recessive limb-girdle muscular dystrophy type 2O
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive distal spinal muscular atrophy type 4
Gene [OrphaNum:167889 ; Name:Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 ; Symbol:PLEKHG5 ; xref: OMIM:611101 ; xref: UNIPROTKB/SWISSPROT:O94827 ; xref: GENATLAS:PLEKHG5 ; xref: HGNC:29105 ; xref: ENSEMBL:ENSG00000171680 ; xref: REACTOME:O94827]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583
Leukomelanoderma - intellectual deficit - hypotrichosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206634
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206644
Ectodermal dysplasia, tricho-odonto-onychial type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206650
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206653
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206656
Non-dystrophic myopathy with collagen 6 anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206659
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206662
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206701
Bulbospinal muscular atrophy of children
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206704
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206707
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807
Gene [OrphaNum:239021 ; Name:Twist homolog 2 (Drosophila) ; Symbol:TWIST2 ; xref: GENATLAS:TWIST2 ; xref: HGNC:20670 ; xref: UNIPROTKB/SWISSPROT:Q8WVJ9 ; xref: OMIM:607556 ; xref: ENSEMBL:ENSG00000233608]
Generalized bulbospinal muscular atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206710
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206713
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206953
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206959
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206966
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206970
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206973
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206976
Spinal muscular atrophy associated with central nervous system anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207012
Rare hereditary disease with peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207015
Rare hereditary metabolic disease with peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207018
Rare hereditary systemic disease with peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207021
Rare hereditary neurologic disease with peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207025
Cerebellar ataxia with peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207028
Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207031
Intellectual deficit - spasticity - ectrodactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891
Bilateral parasagittal parieto-occipital polymicrogyria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447
Autosomal dominant cerebellar ataxia type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513
Gene [OrphaNum:212616 ; Name:Spinocerebellar ataxia 29 ; Symbol:SCA29 ; xref: OMIM:117360 ; xref: HGNC:33444]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208593
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208596
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650
Ectrodactyly - ectodermal dysplasia - cleft lip/palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
Ectodermal dysplasia - ectrodactyly - macular dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335
Gene [OrphaNum:120453 ; Name:VAMP (vesicle-associated membrane protein)-associated protein B and C ; Symbol:VAPB ; xref: GENATLAS:VAPB ; xref: HGNC:12649 ; xref: OMIM:605704 ; xref: UNIPROTKB/SWISSPROT:O95292 ; xref: ENSEMBL:ENSG00000124164 ; xref: REACTOME:O95292]
Childhood-onset proximal spinal muscular atrophy, autosomal dominant
Juvenile spinal muscular atrophy, autosomal dominant
Kugelberg-Welander disease, autosomal dominant
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal dominant;
Severe neonatal-onset encephalopathy with microcephaly
Severe congenital encephalopathy due to MECP2 mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370
Autosomal dominant rhegmatogenous retinal detachment
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867
Familial juvenile hyperuricemic nephropathy type 1
UMOD-associated familial juvenile hyperuricemic nephropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209886
Congenital isolated thyroxine-binding globulin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209893
Gene [OrphaNum:212874 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 ; Symbol:SERPINA7 ; xref: ENSEMBL:ENSG00000123561 ; xref: HGNC:11583 ; xref: OMIM:314200 ; xref: GENATLAS:SERPINA7 ; xref: UNIPROTKB/SWISSPROT:P05543]
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902
Gene [OrphaNum:212882 ; Name:Cytochrome P450, family 7, subfamily A, polypeptide 1 ; Symbol:CYP7A1 ; xref: REACTOME:P22680 ; xref: ENSEMBL:ENSG00000167910 ; xref: GENATLAS:CYP7A1 ; xref: HGNC:2651 ; xref: OMIM:118455 ; xref: UNIPROTKB/SWISSPROT:P22680]
Choreoathetosis - hypothyroidism - neonatal respiratory distress
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905
Speech and language disorder with orofacial dyspraxia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908
Gene [OrphaNum:212885 ; Name:Forkhead box P2 ; Symbol:FOXP2 ; xref: ENSEMBL:ENSG00000128573 ; xref: GENATLAS:FOXP2 ; xref: HGNC:13875 ; xref: OMIM:605317 ; xref: UNIPROTKB/SWISSPROT:O15409]
Cone dystrophy with supernormal rod response
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal scotopic electroretinogram
Gene [OrphaNum:159360 ; Name:Potassium channel, subfamily V, member 2 ; Symbol:KCNV2 ; xref: GENATLAS:KCNV2 ; xref: HGNC:19698 ; xref: OMIM:607604 ; xref: UNIPROTKB/SWISSPROT:Q8TDN2 ; xref: IUPHAR:566 ; xref: ENSEMBL:ENSG00000168263 ; xref: REACTOME:Q8TDN2]
Gene [OrphaNum:160320 ; Name:Phosphodiesterase 6H, cGMP-specific, cone, gamma ; Symbol:PDE6H ; xref: GENATLAS:PDE6H ; xref: HGNC:8790 ; xref: OMIM:601190 ; xref: UNIPROTKB/SWISSPROT:Q13956 ; xref: ENSEMBL:ENSG00000139053]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932
Idiopathic retinal-aneurysms-neuroretinitis syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943
Autosomal recessive spastic paraplegia type 18
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951
Gene [OrphaNum:280390 ; Name:ER lipid raft associated 2 ; Symbol:ERLIN2 ; xref: ENSEMBL:ENSG00000147475 ; xref: HGNC:1356 ; xref: OMIM:611605 ; xref: GENATLAS:ERLIN2 ; xref: UNIPROTKB/SWISSPROT:O94905]
Gene [OrphaNum:212892 ; Name:Solute carrier family 1 (glial high affinity glutamate transporter), member 3 ; Symbol:SLC1A3 ; xref: ENSEMBL:ENSG00000079215 ; xref: REACTOME:P43003 ; xref: GENATLAS:SLC1A3 ; xref: HGNC:10941 ; xref: OMIM:600111 ; xref: UNIPROTKB/SWISSPROT:P43003]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970
Benign familial nocturnal alternating hemiplegia of childhood
Benign familial nocturnal alternating hemiplegia in childhood
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209978
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981
Gene [OrphaNum:139780 ; Name:Transmembrane protease, serine 6 ; Symbol:TMPRSS6 ; xref: GENATLAS:TMPRSS6 ; xref: HGNC:16517 ; xref: OMIM:609862 ; xref: UNIPROTKB/SWISSPROT:Q8IU80 ; xref: ENSEMBL:ENSG00000187045]
Autosomal recessive intermediate osteopetrosis
Gene [OrphaNum:212898 ; Name:Pleckstrin homology domain containing, family M (with RUN domain) member 1 ; Symbol:PLEKHM1 ; xref: ENSEMBL:ENSG00000225190 ; xref: GENATLAS:PLEKHM1 ; xref: HGNC:29017 ; xref: OMIM:611466 ; xref: UNIPROTKB/SWISSPROT:Q9Y4G2]
Gene [OrphaNum:119462 ; Name:Chloride channel 7 ; Symbol:CLCN7 ; xref: GENATLAS:CLCN7 ; xref: HGNC:2025 ; xref: OMIM:602727 ; xref: UNIPROTKB/SWISSPROT:P51798 ; xref: ENSEMBL:ENSG00000103249]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110
Sterile multifocal osteomyelitis with periostitis and pustulosis
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
Interleukin-1 receptor antagonist deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115
Gene [OrphaNum:212902 ; Name:Interleukin 1 receptor antagonist ; Symbol:IL1RN ; xref: ENSEMBL:ENSG00000136689 ; xref: REACTOME:P18510 ; xref: HGNC:6000 ; xref: GENATLAS:IL1RN ; xref: OMIM:147679 ; xref: UNIPROTKB/SWISSPROT:P18510]
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
Gene [OrphaNum:212909 ; Name:Forkhead box F1 ; Symbol:FOXF1 ; xref: ENSEMBL:ENSG00000103241 ; xref: GENATLAS:FOXF1 ; xref: HGNC:3809 ; xref: OMIM:601089 ; xref: UNIPROTKB/SWISSPROT:Q12946]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122
Encephalopathy due to urocanase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128
Gene [OrphaNum:212917 ; Name:Urocanase domain containing 1 ; Symbol:UROC1 ; xref: ENSEMBL:ENSG00000159650 ; xref: REACTOME:Q96N76 ; xref: GENATLAS:UROC1 ; xref: HGNC:26444 ; xref: OMIM:613012 ; xref: UNIPROTKB/SWISSPROT:Q96N76]
Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133
Inherited congenital spastic tetraplegia
Gene [OrphaNum:270043 ; Name:glutamate decarboxylase 1 (brain, 67kDa) ; Symbol:GAD1 ; xref: REACTOME:Q99259 ; xref: ENSEMBL:ENSG00000128683 ; xref: HGNC:4092 ; xref: OMIM:605363 ; xref: UNIPROTKB/SWISSPROT:Q99259 ; xref: GENATLAS:GAD1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141
Lethal polymalformative syndrome, Boissel type
Gene [OrphaNum:212927 ; Name:Fat mass and obesity associated ; Symbol:FTO ; xref: ENSEMBL:ENSG00000140718 ; xref: GENATLAS:FTO ; xref: HGNC:24678 ; xref: OMIM:610966 ; xref: UNIPROTKB/SWISSPROT:Q9C0B1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144
Congenital lethal myopathy, Compton-North type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163
Gene [OrphaNum:212878 ; Name:Contactin 1 ; Symbol:CNTN1 ; xref: GENATLAS:CNTN1 ; xref: HGNC:2171 ; xref: OMIM:600016 ; xref: UNIPROTKB/SWISSPROT:Q12860 ; xref: ENSEMBL:ENSG00000018236 ; xref: REACTOME:Q12860]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210566
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571
Gene [OrphaNum:213048 ; Name:Protein kinase, interferon-inducible double stranded RNA dependent activator ; Symbol:PRKRA ; xref: OMIM:603424 ; xref: UNIPROTKB/SWISSPROT:O75569 ; xref: ENSEMBL:ENSG00000180228 ; xref: GENATLAS:PRKRA ; xref: HGNC:9438]
Aminopterin/methotrexate embryofetopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017
Gene [OrphaNum:212618 ; Name:Spinocerebellar ataxia 30 ; Symbol:SCA30 ; xref: HGNC:33445]
Autosomal dominant proximal spinal muscular atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211037
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211062
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211240
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213517
Hereditary site-specific ovarian cancer syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213524
Gene [OrphaNum:121574 ; Name:Epoxide hydrolase 1, microsomal (xenobiotic) ; Symbol:EPHX1 ; xref: GENATLAS:EPHX1 ; xref: HGNC:3401 ; xref: OMIM:132810 ; xref: UNIPROTKB/SWISSPROT:P07099 ; xref: ENSEMBL:ENSG00000143819]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913
Embryofetopathy due to oral anticoagulant therapy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914
Prelingual nonsyndromic genetic deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216445
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive;
Postlingual nonsyndromic genetic deafness
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216452
Isolated congenitally uncorrected transposition of the great arteries
Isolated congenitally uncorrected transposition of the great vessels
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Congenitally uncorrected transposition of the great vessels with cardiac malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804
Gene [OrphaNum:138843 ; Name:Leucine proline-enriched proteoglycan (leprecan) 1 ; Symbol:LEPRE1 ; xref: GENATLAS:LEPRE1 ; xref: HGNC:19316 ; xref: OMIM:610339 ; xref: UNIPROTKB/SWISSPROT:Q32P28 ; xref: ENSEMBL:ENSG00000117385]
Gene [OrphaNum:138847 ; Name:Cartilage associated protein ; Symbol:CRTAP ; xref: GENATLAS:CRTAP ; xref: HGNC:2379 ; xref: OMIM:605497 ; xref: UNIPROTKB/SWISSPROT:O75718 ; xref: ENSEMBL:ENSG00000170275]
Gene [OrphaNum:217124 ; Name:Peptidylprolyl isomerase B (cyclophilin B) ; Symbol:PPIB ; xref: ENSEMBL:ENSG00000166794 ; xref: GENATLAS:PPIB ; xref: HGNC:9255 ; xref: OMIM:123841 ; xref: UNIPROTKB/SWISSPROT:P23284]
Gene [OrphaNum:265490 ; Name:serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 ; Symbol:SERPINF1 ; xref: GENATLAS:SERPINF1 ; xref: GENATLAS:P36955 ; xref: ENSEMBL:ENSG00000132386 ; xref: HGNC:8824 ; xref: OMIM:172860]
Gene [OrphaNum:227095 ; Name:Serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) ; Symbol:SERPINH1 ; xref: GENATLAS:SERPINH1 ; xref: HGNC:1546 ; xref: OMIM:600943 ; xref: UNIPROTKB/SWISSPROT:P50454 ; xref: ENSEMBL:ENSG00000149257]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812
Gene [OrphaNum:287069 ; Name:Bone morphogenetic protein 1 ; Symbol:BMP1 ; xref: HGNC:1067 ; xref: OMIM:112264 ; xref: GENATLAS:BMP1 ; xref: UNIPROTKB/SWISSPROT:P13497 ; xref: REACTOME:P13497 ; xref: ENSEMBL:ENSG00000168487]
Gene [OrphaNum:236638 ; Name:Sp7 transcription factor ; Symbol:SP7 ; xref: HGNC:17321 ; xref: GENATLAS:SP7 ; xref: OMIM:606633 ; xref: UNIPROTKB/SWISSPROT:Q8TDD2 ; xref: ENSEMBL:ENSG00000170374]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828
Gene [OrphaNum:233035 ; Name:FK506 binding protein 10, 65 kDa ; Symbol:FKBP10 ; xref: ENSEMBL:ENSG00000141756 ; xref: HGNC:18169 ; xref: GENATLAS:FKBP10 ; xref: UNIPROTKB/SWISSPROT:Q96AY3 ; xref: OMIM:607063]
Classic pantothenate kinase associated neurodegeneration
Neurodegeneration with brain iron accumulation type 1, classic form
Gene [OrphaNum:124070 ; Name:Pantothenate kinase 2 (Hallervorden-Spatz syndrome) ; Symbol:PANK2 ; xref: GENATLAS:PANK2 ; xref: HGNC:15894 ; xref: OMIM:606157 ; xref: UNIPROTKB/SWISSPROT:Q9BZ23 ; xref: REACTOME:Q9BZ23 ; xref: ENSEMBL:ENSG00000125779]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866
Atypical pantothenate kinase associated neurodegeneration
Neurodegeneration with brain iron accumulation type 1, atypical form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917
Niemann-Pick disease type C, severe perinatal
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972
Gene [OrphaNum:123870 ; Name:Niemann-Pick disease, type C2 ; Symbol:NPC2 ; xref: OMIM:601015 ; xref: UNIPROTKB/SWISSPROT:P61916 ; xref: GENATLAS:NPC2 ; xref: HGNC:14537 ; xref: ENSEMBL:ENSG00000119655]
Gene [OrphaNum:123868 ; Name:Niemann-Pick disease, type C1 ; Symbol:NPC1 ; xref: GENATLAS:NPC1 ; xref: HGNC:7897 ; xref: OMIM:607623 ; xref: UNIPROTKB/SWISSPROT:O15118 ; xref: ENSEMBL:ENSG00000141458]
Niemann-Pick disease type C, severe early infantile neurologic onset
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975
Niemann-Pick disease type C, late infantile neurologic onset
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, classic form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981
Niemann-Pick disease type C, adult neurologic onset
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986
Autosomal dominant dystrophic epidermolysis bullosa, Pasini type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216989
Gene [OrphaNum:236636 ; Name:Spinocerebellar ataxia 31 ; Symbol:SCA31 ; xref: HGNC:35432 ; xref: OMIM:117210]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012
Occipital atretic cephalocele - unusual facies - large feet
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919
Atypical hemolytic uremic syndrome with thrombomodulin anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217023
Gene [OrphaNum:120088 ; Name:Thrombomodulin ; Symbol:THBD ; xref: GENATLAS:THBD ; xref: HGNC:11784 ; xref: OMIM:188040 ; xref: UNIPROTKB/SWISSPROT:P07204 ; xref: REACTOME:P07204 ; xref: ENSEMBL:ENSG00000178726]
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217031
Gene [OrphaNum:220900 ; Name:Melanocortin 3 receptor ; Symbol:MC3R ; xref: REACTOME:P41968 ; xref: IUPHAR:284 ; xref: ENSEMBL:ENSG00000124089 ; xref: GENATLAS:MC3R ; xref: HGNC:6931 ; xref: OMIM:155540 ; xref: UNIPROTKB/SWISSPROT:P41968]
Male infertility with normal virilization due to meiosis defect
Male infertility with normal virilization due to maturation arrest
prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Unknown;
Gene [OrphaNum:220903 ; Name:Synaptonemal complex protein 3 ; Symbol:SYCP3 ; xref: REACTOME:Q8IZU3 ; xref: ENSEMBL:ENSG00000139351 ; xref: GENATLAS:SYCP3 ; xref: HGNC:18130 ; xref: OMIM:604759 ; xref: UNIPROTKB/SWISSPROT:Q8IZU3]
Gene [OrphaNum:304764 ; Name:Spermatogenesis and oogenesis specific basic helix-loop-helix 1 ; Symbol:SOHLH1 ; xref: HGNC:27845 ; xref: OMIM:610224 ; xref: GENATLAS:SOHLH1 ; xref: UNIPROTKB/SWISSPROT:Q5JUK2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217034
Gene [OrphaNum:235204 ; Name:Crystallin, gamma S ; Symbol:CRYGS ; xref: ENSEMBL:ENSG00000213139 ; xref: GENATLAS:CRYGS ; xref: HGNC:2417 ; xref: UNIPROTKB/SWISSPROT:P22914 ; xref: OMIM:123730]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217046
Gene [OrphaNum:160055 ; Name:Beaded filament structural protein 1, filensin ; Symbol:BFSP1 ; xref: GENATLAS:BFSP1 ; xref: HGNC:1040 ; xref: OMIM:603307 ; xref: UNIPROTKB/SWISSPROT:Q12934 ; xref: ENSEMBL:ENSG00000125864]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217049
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217052
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920
Gene [OrphaNum:122569 ; Name:Iduronate 2-sulfatase (Hunter syndrome) ; Symbol:IDS ; xref: GENATLAS:IDS ; xref: HGNC:5389 ; xref: UNIPROTKB/SWISSPROT:P22304 ; xref: OMIM:300823 ; xref: ENSEMBL:ENSG00000010404]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Bifid nose with or without anorectal and renal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266
Gene [OrphaNum:220909 ; Name:FRAS1 related extracellular matrix 1 ; Symbol:FREM1 ; xref: ENSEMBL:ENSG00000164946 ; xref: GENATLAS:FREM1 ; xref: HGNC:23399 ; xref: OMIM:608944 ; xref: UNIPROTKB/SWISSPROT:Q5H8C1]
Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness
Cutis verticis gyrata - retinitis pigmentosa - neurosensory deafness
Cutis verticis gyrata - retinitis pigmentosa - neurosensory hearing loss
Cutis verticis gyrata - retinitis pigmentosa - sensorineural hearing loss
Gene [OrphaNum:120476 ; Name:Vacuolar protein sorting 13 homolog B (yeast) ; Symbol:VPS13B ; xref: ENSEMBL:ENSG00000132549 ; xref: GENATLAS:VPS13B ; xref: HGNC:2183 ; xref: OMIM:607817 ; xref: UNIPROTKB/SWISSPROT:Q7Z7G8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217315
Familial juvenile hyperuricemic nephropathy type 2
REN-associated familial juvenile hyperuricemic nephropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330
Macrocephaly - alopecia - cutis laxa - scoliosis
Gene [OrphaNum:220916 ; Name:Ras and Rab interactor 2 ; Symbol:RIN2 ; xref: ENSEMBL:ENSG00000132669 ; xref: GENATLAS:RIN2 ; xref: HGNC:18750 ; xref: OMIM:610222 ; xref: UNIPROTKB/SWISSPROT:Q8WYP3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346
Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect
Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923
Microduplication Xp11.22-p11.23 syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Inheritance- X-linked dominant;
Neurodegenerative syndrome due to cerebral folate transport deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382
Gene [OrphaNum:220919 ; Name:Folate receptor 1 (adult) ; Symbol:FOLR1 ; xref: ENSEMBL:ENSG00000110195 ; xref: GENATLAS:FOLR1 ; xref: HGNC:3791 ; xref: OMIM:136430 ; xref: UNIPROTKB/SWISSPROT:P15328]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385
Gene [OrphaNum:269928 ; Name:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide ; Symbol:YWHAE ; xref: REACTOME:P62258 ; xref: ENSEMBL:ENSG00000108953 ; xref: UNIPROTKB/SWISSPROT:P62258 ; xref: HGNC:12851 ; xref: OMIM:605066 ; xref: GENATLAS:YWHAE]
Severe combined immunodeficiency due to DOCK8 deficiency
Severe combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390
Progressive demyelinating neuropathy with bilateral striatal necrosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396
Hereditary hypotrichosis with recurrent skin vesicles
Gene [OrphaNum:220928 ; Name:Desmocollin 3 ; Symbol:DSC3 ; xref: ENSEMBL:ENSG00000134762 ; xref: HGNC:3037 ; xref: OMIM:600271 ; xref: UNIPROTKB/SWISSPROT:Q14574 ; xref: GENATLAS:DSC3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Hereditary thrombophilia due to congenital HRG deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467
Gene [OrphaNum:220905 ; Name:Histidine-rich glycoprotein ; Symbol:HRG ; xref: ENSEMBL:ENSG00000113905 ; xref: REACTOME:P04196 ; xref: GENATLAS:HRG ; xref: HGNC:5181 ; xref: OMIM:142640 ; xref: UNIPROTKB/SWISSPROT:P04196]
Neonatal acute respiratory distress with surfactant metabolism deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563
Gene [OrphaNum:118643 ; Name:Surfactant, pulmonary-associated protein C ; Symbol:SFTPC ; xref: GENATLAS:SFTPC ; xref: HGNC:10802 ; xref: OMIM:178620 ; xref: UNIPROTKB/SWISSPROT:P11686 ; xref: ENSEMBL:ENSG00000168484]
Gene [OrphaNum:118639 ; Name:Surfactant, pulmonary-associated protein B ; Symbol:SFTPB ; xref: GENATLAS:SFTPB ; xref: HGNC:10801 ; xref: OMIM:178640 ; xref: UNIPROTKB/SWISSPROT:P07988 ; xref: ENSEMBL:ENSG00000168878]
Chronic respiratory distress with surfactant metabolism deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566
Glycogen storage disease with hypertrophic cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572
Lysosomal disease with hypertrophic cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581
Mitochondrial disease with hypertrophic cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591
Syndrome associated with hypertrophic cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217607
Neuromuscular disease with dilated cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610
Mitochondrial disease with dilated cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616
Syndrome associated with dilated cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619
Sensorineural deafness with dilated cardiomyopathy
Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Sensorineural hearing loss with dilated cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217635
Lysosomal disease with restrictive cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638
Familial isolated arrhythmogenic right ventricular dysplasia
Familial isolated arrhythmogenic right ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209
Familial restrictive cardiomyopathy type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218432
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927
Xeroderma pigmentosum/Cockayne syndrome complex
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Gene [OrphaNum:132264 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 3 ; Symbol:ERCC3 ; xref: GENATLAS:ERCC3 ; xref: HGNC:3435 ; xref: OMIM:133510 ; xref: UNIPROTKB/SWISSPROT:P19447 ; xref: ENSEMBL:ENSG00000163161 ; xref: REACTOME:P19447]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436
Gene [OrphaNum:223447 ; Name:Plasminogen activator, urokinase ; Symbol:PLAU ; xref: GENATLAS:PLAU ; xref: HGNC:9052 ; xref: OMIM:191840 ; xref: UNIPROTKB/SWISSPROT:P00749 ; xref: ENSEMBL:ENSG00000122861 ; xref: REACTOME:P00749]
Bleeding diathesis due to thromboxane synthesis deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443
Gene [OrphaNum:293114 ; Name:Thromboxane A2 receptor ; Symbol:TBXA2R ; xref: HGNC:11608 ; xref: OMIM:188070 ; xref: GENATLAS:TBXA2R ; xref: UNIPROTKB/SWISSPROT:P21731]
Macrothrombocytopenia with mitral valve insufficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220452
Attenuated familial adenomatous polyposis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460
prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465
Gene [OrphaNum:119882 ; Name:Signal transducer and activator of transcription 5B ; Symbol:STAT5B ; xref: GENATLAS:STAT5B ; xref: HGNC:11367 ; xref: OMIM:604260 ; xref: UNIPROTKB/SWISSPROT:P51692 ; xref: REACTOME:P51692 ; xref: ENSEMBL:ENSG00000173757]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493
Gene [OrphaNum:119549 ; Name:Abelson helper integration site 1 ; Symbol:AHI1 ; xref: GENATLAS:AHI1 ; xref: HGNC:21575 ; xref: OMIM:608894 ; xref: UNIPROTKB/SWISSPROT:Q8N157 ; xref: ENSEMBL:ENSG00000135541]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497
Gene [OrphaNum:260361 ; Name:Tectonic family member 2 ; Symbol:TCTN2 ; xref: GENATLAS:TCTN2 ; xref: HGNC:25774 ; xref: OMIM:613846 ; xref: UNIPROTKB/SWISSPROT:Q96GX1 ; xref: ENSEMBL:ENSG00000168778]
Gene [OrphaNum:123874 ; Name:Nephronophthisis 1 (juvenile) ; Symbol:NPHP1 ; xref: GENATLAS:NPHP1 ; xref: HGNC:7905 ; xref: OMIM:607100 ; xref: UNIPROTKB/SWISSPROT:O15259 ; xref: ENSEMBL:ENSG00000144061]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008
Shoulder and thorax deformity - congenital heart disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1940
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016
Hereditary sclerosing poikiloderma Weary type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043
Poikiloderma with neutropenia, Clericuzio type
Gene [OrphaNum:225243 ; Name:Chromosome 16 open reading frame 57 ; Symbol:C16ORF57 ; xref: GENATLAS:HVSL1 ; xref: HGNC:25792 ; xref: OMIM:613276 ; xref: UNIPROTKB/SWISSPROT:Q9BQ65 ; xref: ENSEMBL:ENSG00000103005]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054
Hereditary cerebral cavernous malformation
Familial cerebral cavernous malformation
Gene [OrphaNum:124142 ; Name:Programmed cell death 10 ; Symbol:PDCD10 ; xref: GENATLAS:PDCD10 ; xref: HGNC:8761 ; xref: OMIM:609118 ; xref: UNIPROTKB/SWISSPROT:Q9BUL8 ; xref: ENSEMBL:ENSG00000114209]
Gene [OrphaNum:122883 ; Name:KRIT1, ankyrin repeat containing ; Symbol:KRIT1 ; xref: GENATLAS:KRIT1 ; xref: HGNC:1573 ; xref: OMIM:604214 ; xref: UNIPROTKB/SWISSPROT:O00522 ; xref: ENSEMBL:ENSG00000001631]
Gene [OrphaNum:119213 ; Name:Cerebral cavernous malformation 2 ; Symbol:CCM2 ; xref: GENATLAS:CCM2 ; xref: HGNC:21708 ; xref: OMIM:607929 ; xref: UNIPROTKB/SWISSPROT:Q9BSQ5 ; xref: ENSEMBL:ENSG00000136280]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061
Aminopterin syndrome-like sine aminopterin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120
Cerebral proliferative glomeruloid vasculopathy
Encephaloclastic proliferative vasculopathy
Hydrocephaly/hydranencephaly due to cerebral vasculopathy
Proliferative vasculopathy and hydranencephaly/hydrocephaly
Gene [OrphaNum:227058 ; Name:Feline leukemia virus subgroup C cellular receptor family, member 2 ; Symbol:FLVCR2 ; xref: OMIM:610865 ; xref: UNIPROTKB/SWISSPROT:Q9UPI3 ; xref: HGNC:20105 ; xref: GENATLAS:FLVCR2 ; xref: ENSEMBL:ENSG00000224721]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126
Combined immunodeficiency with facio-oculo-skeletal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Gene [OrphaNum:225264 ; Name:Latent transforming growth factor beta binding protein 4 ; Symbol:LTBP4 ; xref: ENSEMBL:ENSG00000090006 ; xref: GENATLAS:LTBP4 ; xref: HGNC:6717 ; xref: OMIM:604710 ; xref: UNIPROTKB/SWISSPROT:Q8N2S1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145
Gene [OrphaNum:201091 ; Name:Neurexin 1 ; Symbol:NRXN1 ; xref: HGNC:8008 ; xref: OMIM:600565 ; xref: GENATLAS:NRXN1 ; xref: UNIPROTKB/SWISSPROT:Q9ULB1 ; xref: ENSEMBL:ENSG00000179915]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221150
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222628
Epiphyseal dysplasia - microcephaly - nystagmus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824
Mitochondrial oxidative phosphorylation disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223713
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123
Gene [OrphaNum:120043 ; Name:Transferrin receptor 2 ; Symbol:TFR2 ; xref: GENATLAS:TFR2 ; xref: HGNC:11762 ; xref: OMIM:604720 ; xref: UNIPROTKB/SWISSPROT:Q9UP52 ; xref: ENSEMBL:ENSG00000106327]
Sporadic infantile bilateral striatal necrosis
Sporadic infantile striatonigral necrosis
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147
Familial infantile bilateral striatal necrosis
Familial infantile striatonigral necrosis
Gene [OrphaNum:138467 ; Name:Nucleoporin 62 KDa ; Symbol:NUP62 ; xref: GENATLAS:NUP62 ; xref: HGNC:8066 ; xref: OMIM:605815 ; xref: UNIPROTKB/SWISSPROT:P37198 ; xref: ENSEMBL:ENSG00000213024 ; xref: REACTOME:P37198]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154
Epiphyseal stippling syndrome - osteoclastic hyperplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371
Gene [OrphaNum:124223 ; Name:Phosphofructokinase, muscle ; Symbol:PFKM ; xref: GENATLAS:PFKM ; xref: HGNC:8877 ; xref: OMIM:610681 ; xref: UNIPROTKB/SWISSPROT:P08237 ; xref: ENSEMBL:ENSG00000152556 ; xref: REACTOME:P08237]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954
Mitochondrial disease with peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225703
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1956
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307
Gene [OrphaNum:123053 ; Name:LIM homeobox 3 ; Symbol:LHX3 ; xref: GENATLAS:LHX3 ; xref: HGNC:6595 ; xref: OMIM:600577 ; xref: UNIPROTKB/SWISSPROT:Q9UBR4 ; xref: ENSEMBL:ENSG00000107187]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226310
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226313
Genetic transient congenital hypothyroidism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316
Multiple system atrophy, cerebellar type
Sporadic olivopontocerebellar atrophy type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535
Gene [OrphaNum:299649 ; Name:X-ray repair complementing defective repair in Chinese hamster cells 2 ; Symbol:XRCC2 ; xref: HGNC:12829 ; xref: OMIM:600375 ; xref: GENATLAS:XRCC2 ; xref: UNIPROTKB/SWISSPROT:O43543]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227786
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796
Autosomal recessive optic atrophy, OPA7 type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976
Gene [OrphaNum:232171 ; Name:Transmembrane protein 126A ; Symbol:TMEM126A ; xref: ENSEMBL:ENSG00000171202 ; xref: HGNC:25382 ; xref: GENATLAS:TMEM126A ; xref: UNIPROTKB/SWISSPROT:Q9H061 ; xref: OMIM:612988]
Autoimmune polyendocrine syndrome type 3
Autoimmune polyglandular syndrome type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to coronin-1A deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003
Gene [OrphaNum:179462 ; Name:Coronin, actin binding protein, 1A ; Symbol:CORO1A ; xref: OMIM:605000 ; xref: HGNC:2252 ; xref: UNIPROTKB/SWISSPROT:P31146 ; xref: GENATLAS:CORO1A ; xref: ENSEMBL:ENSG00000102879]
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Progressive neurosensory deafness - hypertrophic cardiomyopathy
Progressive neurosensory hearing loss - hypertrophic cardiomyopathy
Progressive sensorineural deafness - hypertrophic cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012
Exostoses - anetodermia - brachydactyly type E
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962
Idiopathic ventricular fibrillation, not Brugada type
Familial paroxysmal ventricular fibrillation, not Brugada type
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140
Gene [OrphaNum:232182 ; Name:Dipeptidyl-peptidase 6 ; Symbol:DPP6 ; xref: OMIM:126141 ; xref: UNIPROTKB/SWISSPROT:P42658 ; xref: ENSEMBL:ENSG00000130226 ; xref: GENATLAS:DPP6 ; xref: HGNC:3010]
Autosomal dominant striatal neurodegeneration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174
Gene [OrphaNum:232194 ; Name:Alanyl-tRNA synthetase ; Symbol:AARS ; xref: ENSEMBL:ENSG00000090861 ; xref: REACTOME:P49588 ; xref: GENATLAS:AARS ; xref: HGNC:20 ; xref: UNIPROTKB/SWISSPROT:P49588 ; xref: OMIM:601065]
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Patent arterial duct - bicuspid aortic valve - hand anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228215
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302
Gene [OrphaNum:120795 ; Name:Carnitine palmitoyltransferase II ; Symbol:CPT2 ; xref: GENATLAS:CPT2 ; xref: HGNC:2330 ; xref: OMIM:600650 ; xref: UNIPROTKB/SWISSPROT:P23786 ; xref: REACTOME:P23786 ; xref: ENSEMBL:ENSG00000157184]
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329
Gene [OrphaNum:117978 ; Name:Palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) ; Symbol:PPT1 ; xref: GENATLAS:PPT1 ; xref: HGNC:9325 ; xref: OMIM:600722 ; xref: UNIPROTKB/SWISSPROT:P50897 ; xref: ENSEMBL:ENSG00000131238]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337
Gene [OrphaNum:159489 ; Name:Cathepsin D ; Symbol:CTSD ; xref: GENATLAS:CTSD ; xref: HGNC:2529 ; xref: OMIM:116840 ; xref: UNIPROTKB/SWISSPROT:P07339 ; xref: ENSEMBL:ENSG00000117984]
Gene [OrphaNum:120643 ; Name:Ceroid-lipofuscinosis, neuronal 6, late infantile, variant ; Symbol:CLN6 ; xref: GENATLAS:CLN6 ; xref: HGNC:2077 ; xref: OMIM:606725 ; xref: UNIPROTKB/SWISSPROT:Q9NWW5 ; xref: ENSEMBL:ENSG00000128973]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228340
Gene [OrphaNum:279781 ; Name:DnaJ (Hsp40) homolog, subfamily C, member 5 ; Symbol:DNAJC5 ; xref: ENSEMBL:ENSG00000101152 ; xref: REACTOME:Q9H3Z4 ; xref: HGNC:16235 ; xref: OMIM:611203 ; xref: UNIPROTKB/SWISSPROT:Q9H3Z4 ; xref: GENATLAS:DNAJC5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346
Gene [OrphaNum:120638 ; Name:Ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) ; Symbol:CLN3 ; xref: GENATLAS:CLN3 ; xref: HGNC:2074 ; xref: OMIM:607042 ; xref: UNIPROTKB/SWISSPROT:Q13286 ; xref: ENSEMBL:ENSG00000188603]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349
Gene [OrphaNum:120236 ; Name:Tripeptidyl peptidase I ; Symbol:TPP1 ; xref: GENATLAS:TPP1 ; xref: HGNC:2073 ; xref: OMIM:607998 ; xref: UNIPROTKB/SWISSPROT:O14773 ; xref: REACTOME:O14773 ; xref: ENSEMBL:ENSG00000166340]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354
Gene [OrphaNum:120648 ; Name:Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) ; Symbol:CLN8 ; xref: ENSEMBL:ENSG00000182372 ; xref: GENATLAS:CLN8 ; xref: HGNC:2079 ; xref: OMIM:607837 ; xref: UNIPROTKB/SWISSPROT:Q9UBY8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228357
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360
Gene [OrphaNum:120641 ; Name:Ceroid-lipofuscinosis, neuronal 5 ; Symbol:CLN5 ; xref: GENATLAS:CLN5 ; xref: HGNC:2076 ; xref: OMIM:608102 ; xref: UNIPROTKB/SWISSPROT:O75503 ; xref: ENSEMBL:ENSG00000102805]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366
Gene [OrphaNum:159521 ; Name:Major facilitator superfamily domain containing 8 ; Symbol:MFSD8 ; xref: GENATLAS:MFSD8 ; xref: HGNC:28486 ; xref: OMIM:611124 ; xref: UNIPROTKB/SWISSPROT:Q8NHS3 ; xref: ENSEMBL:ENSG00000164073]
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374
Gene [OrphaNum:232232 ; Name:Myocyte enhancer factor 2C ; Symbol:MEF2C ; xref: ENSEMBL:ENSG00000081189 ; xref: REACTOME:Q06413 ; xref: GENATLAS:MEF2C ; xref: HGNC:6996 ; xref: UNIPROTKB/SWISSPROT:Q06413 ; xref: OMIM:600662]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384
Spondylo-megaepiphyseal-metaphyseal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387
Gene [OrphaNum:232223 ; Name:NK3 homeobox 2 ; Symbol:NKX3-2 ; xref: ENSEMBL:ENSG00000109705 ; xref: OMIM:602183 ; xref: GENATLAS:NKX3-2 ; xref: HGNC:951 ; xref: UNIPROTKB/SWISSPROT:P78367]
Frontonasal dysplasia with alopecia and genital anomaly
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia with alopecia and genital abnomality
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390
Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228407
Gene [OrphaNum:232228 ; Name:Transmembrane and coiled-coil domains 1 ; Symbol:TMCO1 ; xref: ENSEMBL:ENSG00000143183 ; xref: HGNC:18188 ; xref: GENATLAS:TMCO1 ; xref: UNIPROTKB/SWISSPROT:Q9UM00 ; xref: OMIM:614123]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410
Gene [OrphaNum:123937 ; Name:Nuclear receptor binding SET domain protein 1 ; Symbol:NSD1 ; xref: GENATLAS:NSD1 ; xref: HGNC:14234 ; xref: OMIM:606681 ; xref: UNIPROTKB/SWISSPROT:Q96L73 ; xref: ENSEMBL:ENSG00000165671]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415
Microcephaly - seizures - developmental delay
Gene [OrphaNum:229787 ; Name:Polynucleotide kinase 3'-phosphatase ; Symbol:PNKP ; xref: OMIM:605610 ; xref: UNIPROTKB/SWISSPROT:Q96T60 ; xref: ENSEMBL:ENSG00000039650 ; xref: HGNC:9154 ; xref: GENATLAS:PNKP]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228418
Monocytopenia with susceptibility to infections
Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
Dentritic cell, monocyte, B and NK lymphoid deficiency
Monocyte - B - natural killer - dendritic cell deficiency
Monocytopenia and mycobacterial infection syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:274222 ; Name:GATA binding protein 2 ; Symbol:GATA2 ; xref: ENSEMBL:ENSG00000179348 ; xref: GENATLAS:GATA2 ; xref: HGNC:4171 ; xref: OMIM:137295 ; xref: UNIPROTKB/SWISSPROT:P23769 ; xref: REACTOME:P23769]
Syndromic multisystem autoimmune disease due to Itch deficiency
Gene [OrphaNum:232245 ; Name:Itchy E3 ubiquitin protein ligase homolog (mouse) ; Symbol:ITCH ; xref: ENSEMBL:ENSG00000078747 ; xref: REACTOME:Q96J02 ; xref: GENATLAS:ITCH ; xref: HGNC:13890 ; xref: OMIM:606409 ; xref: UNIPROTKB/SWISSPROT:Q96J02]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426
Generalized congenital lipodystrophy with myopathy
Gene [OrphaNum:227086 ; Name:Polymerase I and transcript release factor ; Symbol:PTRF ; xref: REACTOME:Q6NZI2 ; xref: HGNC:9688 ; xref: GENATLAS:PTRF ; xref: OMIM:603198 ; xref: UNIPROTKB/SWISSPROT:Q6NZI2 ; xref: ENSEMBL:ENSG00000177469]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229717
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229720
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970
Ehlers-Danlos syndrome, classic-like type
Gene [OrphaNum:120194 ; Name:Tenascin XB ; Symbol:TNXB ; xref: GENATLAS:TNXB ; xref: HGNC:11976 ; xref: OMIM:600985 ; xref: UNIPROTKB/SWISSPROT:P22105 ; xref: ENSEMBL:ENSG00000168477]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839
Ehlers-Danlos syndrome, vascular-like type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230845
Ehlers-Danlos syndrome, cardiac valvular type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851
Ehlers-Danlos/osteogenesis imperfecta syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031
Familial multiple lentigines syndrome without systemic involvement
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040
Severe combined immunodeficiency with sensitivity to ionizing radiation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231053
Gene [OrphaNum:225351 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ; Symbol:SMARCA4 ; xref: ENSEMBL:ENSG00000127616 ; xref: HGNC:11100 ; xref: OMIM:603254 ; xref: GENATLAS:SMARCA4 ; xref: UNIPROTKB/SWISSPROT:P51532]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Gene [OrphaNum:159729 ; Name:Insulin-like growth factor 2 (somatomedin A) ; Symbol:IGF2 ; xref: HGNC:5466 ; xref: OMIM:147470 ; xref: UNIPROTKB/SWISSPROT:P01344 ; xref: GENATLAS:IGF2 ; xref: ENSEMBL:ENSG00000167244 ; xref: REACTOME:P01344]
Gene [OrphaNum:138711 ; Name:KCNQ1 overlapping transcript 1 (non-protein coding) ; Symbol:KCNQ1OT1 ; xref: GENATLAS:KCNQ1OT1 ; xref: HGNC:6295 ; xref: OMIM:604115 ; xref: ENSEMBL:ENSG00000258492]
Gene [OrphaNum:123340 ; Name:H19, imprinted maternally expressed untranslated mRNA ; Symbol:H19 ; xref: GENATLAS:H19 ; xref: HGNC:4713 ; xref: OMIM:103280 ; xref: ENSEMBL:ENSG00000130600]
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Gene [OrphaNum:119300 ; Name:Cyclin-dependent kinase inhibitor 1C (p57, Kip2) ; Symbol:CDKN1C ; xref: GENATLAS:CDKN1C ; xref: HGNC:1786 ; xref: OMIM:600856 ; xref: UNIPROTKB/SWISSPROT:P49918 ; xref: ENSEMBL:ENSG00000129757]
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to 7p11.2-p13 microduplication
Silver-Russell syndrome due to dup(7)(p11.2p13)
Silver-Russell syndrome due to trisomy 7p11.2-p13
Silver-Russell syndrome due to trisomy 7p11.2p13
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137
Silver-Russell syndrome due to imprinting defect of 11p15
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140
Silver-Russell syndrome due to 11p15 microduplication
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147
Severe combined immunodeficiency T+ B+ due to partial RAG1 deficiency
SCID T+ B+ due to partial RAG1 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160
Gene [OrphaNum:120442 ; Name:Usher syndrome 1G (autosomal recessive) ; Symbol:USH1G ; xref: GENATLAS:USH1G ; xref: HGNC:16356 ; xref: OMIM:607696 ; xref: UNIPROTKB/SWISSPROT:Q495M9 ; xref: ENSEMBL:ENSG00000182040]
Gene [OrphaNum:139795 ; Name:Usher syndrome 1E (autosomal recessive, severe) ; Symbol:USH1E ; xref: GENATLAS:USH1E ; xref: HGNC:12599 ; xref: OMIM:602097]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169
Gene [OrphaNum:122270 ; Name:G protein-coupled receptor 98 ; Symbol:GPR98 ; xref: OMIM:602851 ; xref: UNIPROTKB/SWISSPROT:Q8WXG9 ; xref: GENATLAS:GPR98 ; xref: HGNC:17416 ; xref: IUPHAR:189 ; xref: ENSEMBL:ENSG00000164199]
Gene [OrphaNum:239898 ; Name:PDZ domain containing 7 ; Symbol:PDZD7 ; xref: GENATLAS:PDZD7 ; xref: HGNC:26257 ; xref: OMIM:612971 ; xref: UNIPROTKB/SWISSPROT:Q9H5P4 ; xref: ENSEMBL:ENSG00000186862]
Gene [OrphaNum:120447 ; Name:Usher syndrome 2A (autosomal recessive, mild) ; Symbol:USH2A ; xref: GENATLAS:USH2A ; xref: HGNC:12601 ; xref: OMIM:608400 ; xref: UNIPROTKB/SWISSPROT:O75445 ; xref: ENSEMBL:ENSG00000042781]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178
Gene [OrphaNum:167905 ; Name:Mitochondrially encoded tRNA serine 2 (AGU/C) ; Symbol:MT-TS2 ; xref: GENATLAS:MT-TS2 ; xref: HGNC:7498 ; xref: OMIM:590085]
Gene [OrphaNum:303807 ; Name:Histidyl-tRNA synthetase ; Symbol:HARS ; xref: HGNC:4816 ; xref: OMIM:142810 ; xref: GENATLAS:HARS ; xref: UNIPROTKB/SWISSPROT:P12081]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183
Gene [OrphaNum:120653 ; Name:Clarin 1 ; Symbol:CLRN1 ; xref: GENATLAS:CLRN1 ; xref: HGNC:12605 ; xref: OMIM:606397 ; xref: UNIPROTKB/SWISSPROT:P58418 ; xref: ENSEMBL:ENSG00000163646]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973
Common variable immunodeficiency without known genetic defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231205
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226
Beta-thalassemia associated with another hemoglobin anomaly
Beta-thalassemia associated with another Hb anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230
Gene [OrphaNum:281857 ; Name:Hemoglobin, delta ; Symbol:HBD ; xref: ENSEMBL:ENSG00000223609 ; xref: REACTOME:P02042 ; xref: HGNC:4829 ; xref: OMIM:142000 ; xref: GENATLAS:HBD ; xref: UNIPROTKB/SWISSPROT:P02042]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231256
Autosomal recessive facio-digito-genital syndrome
Facio-digito-genital syndrome, Kuwait type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974
Beta-thalassemia with other manifestations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386
Beta-thalassemia - X-linked thrombocytopenia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393
Alpha-thalassemia - myelodysplastic syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401
Hermansky-Pudlak syndrome with pulmonary fibrosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500
Gene [OrphaNum:122480 ; Name:Hermansky-Pudlak syndrome 1 ; Symbol:HPS1 ; xref: GENATLAS:HPS1 ; xref: HGNC:5163 ; xref: OMIM:604982 ; xref: UNIPROTKB/SWISSPROT:Q92902 ; xref: ENSEMBL:ENSG00000107521]
Gene [OrphaNum:122486 ; Name:Hermansky-Pudlak syndrome 4 ; Symbol:HPS4 ; xref: GENATLAS:HPS4 ; xref: HGNC:15844 ; xref: OMIM:606682 ; xref: UNIPROTKB/SWISSPROT:Q9NQG7 ; xref: ENSEMBL:ENSG00000100099]
Hermansky-Pudlak syndrome without pulmonary fibrosis
Gene [OrphaNum:122490 ; Name:Hermansky-Pudlak syndrome 5 ; Symbol:HPS5 ; xref: GENATLAS:HPS5 ; xref: HGNC:17022 ; xref: OMIM:607521 ; xref: UNIPROTKB/SWISSPROT:Q9UPZ3 ; xref: ENSEMBL:ENSG00000110756]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512
Gene [OrphaNum:122492 ; Name:Hermansky-Pudlak syndrome 6 ; Symbol:HPS6 ; xref: GENATLAS:HPS6 ; xref: HGNC:18817 ; xref: OMIM:607522 ; xref: UNIPROTKB/SWISSPROT:Q86YV9 ; xref: ENSEMBL:ENSG00000166189]
Gene [OrphaNum:122483 ; Name:Hermansky-Pudlak syndrome 3 ; Symbol:HPS3 ; xref: GENATLAS:HPS3 ; xref: HGNC:15597 ; xref: OMIM:606118 ; xref: UNIPROTKB/SWISSPROT:Q969F9 ; xref: ENSEMBL:ENSG00000163755]
Gene [OrphaNum:121227 ; Name:Dystrobrevin binding protein 1 ; Symbol:DTNBP1 ; xref: GENATLAS:DTNBP1 ; xref: HGNC:17328 ; xref: OMIM:607145 ; xref: UNIPROTKB/SWISSPROT:Q96EV8 ; xref: ENSEMBL:ENSG00000047579 ; xref: REACTOME:Q96EV8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531
Gene [OrphaNum:119045 ; Name:Biogenesis of lysosome-related organelles complex-1, subunit 3 ; Symbol:BLOC1S3 ; xref: GENATLAS:BLOC1S3 ; xref: HGNC:20914 ; xref: OMIM:609762 ; xref: UNIPROTKB/SWISSPROT:Q6QNY0 ; xref: REACTOME:Q6QNY0 ; xref: ENSEMBL:ENSG00000189114]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231537
Hereditary neuropathy with liability to pressure palsies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Late-onset localized junctional epidermolysis bullosa - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
DDEB, Pasini and Cockayne-Touraine types
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568
Isolated growth hormone deficiency type IA
Congenital isolated GH deficiency type IA
Congenital isolated growth hormone deficiency type IA
Gene [OrphaNum:122092 ; Name:Growth hormone 1 ; Symbol:GH1 ; xref: GENATLAS:GH1 ; xref: HGNC:4261 ; xref: OMIM:139250 ; xref: UNIPROTKB/SWISSPROT:P01241 ; xref: ENSEMBL:ENSG00000259384 ; xref: REACTOME:P01241]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662
Isolated growth hormone deficiency type IB
Congenital isolated GH deficiency type IB
Congenital isolated growth hormone deficiency type IB
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671
Gene [OrphaNum:122097 ; Name:Growth hormone releasing hormone receptor ; Symbol:GHRHR ; xref: GENATLAS:GHRHR ; xref: HGNC:4266 ; xref: OMIM:139191 ; xref: UNIPROTKB/SWISSPROT:Q02643 ; xref: IUPHAR:247 ; xref: ENSEMBL:ENSG00000106128 ; xref: REACTOME:Q02643]
Isolated growth hormone deficiency type II
Congenital isolated GH deficiency type II
Congenital isolated growth hormone deficiency type II
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679
Isolated growth hormone deficiency type III
Congenital isolated GH deficiency type III
Congenital isolated growth hormone deficiency type III
X-linked isolated growth hormone deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692
Nonacquired combined pituitary hormone deficiency with spine abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720
Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736
Epibulbar lipodermoid - preauricular appendage - polythelia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288
Bilateral striopallidodentate calcinosis
Gene [OrphaNum:293028 ; Name:Solute carrier family 20 (phosphate transporter), member 2 ; Symbol:SLC20A2 ; xref: HGNC:10947 ; xref: GENATLAS:SLC20A2 ; xref: OMIM:158378 ; xref: UNIPROTKB/SWISSPROT:Q08357]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233655
Alport syndrome with leukocyte inclusions and macrothrombocytopenia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1984
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936
Bifid femur - monodactylous ectrodactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Familial renal amyloidosis due to Apolipoprotein AII variant
Familial amyloid nephropathy due to Apolipoprotein AII variant
Hereditary amyloid nephropathy due to Apolipoprotein AII variant
Hereditary renal amyloidosis due to Apolipoprotein AII variant
Gene [OrphaNum:188814 ; Name:Apolipoprotein A-II ; Symbol:APOA2 ; xref: ENSEMBL:ENSG00000158874 ; xref: GENATLAS:APOA2 ; xref: HGNC:601 ; xref: OMIM:107670 ; xref: UNIPROTKB/SWISSPROT:P02652 ; xref: REACTOME:P02652]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238305
Severe X-linked mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
Gene [OrphaNum:244686 ; Name:Apoptosis-inducing factor, mitochondrion-associated, 1 ; Symbol:AIFM1 ; xref: HGNC:8768 ; xref: GENATLAS:AIFM1 ; xref: OMIM:300169 ; xref: ENSEMBL:ENSG00000156709 ; xref: UNIPROTKB/SWISSPROT:O95831]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455
Gene [OrphaNum:244693 ; Name:Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 ; Symbol:SLC6A3 ; xref: HGNC:11049 ; xref: GENATLAS:SLC6A3 ; xref: OMIM:126455 ; xref: UNIPROTKB/SWISSPROT:Q01959 ; xref: ENSEMBL:ENSG00000142319 ; xref: REACTOME:Q01959]
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf
Gene [OrphaNum:139197 ; Name:Solute carrier family 35 (CMP-sialic acid transporter), member A1 ; Symbol:SLC35A1 ; xref: GENATLAS:SLC35A1 ; xref: HGNC:11021 ; xref: OMIM:605634 ; xref: UNIPROTKB/SWISSPROT:P78382 ; xref: ENSEMBL:ENSG00000164414 ; xref: REACTOME:P78382]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- No data available;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475
Gene [OrphaNum:244706 ; Name:Bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) ; Symbol:BAAT ; xref: HGNC:932 ; xref: GENATLAS:BAAT ; xref: UNIPROTKB/SWISSPROT:Q14032 ; xref: OMIM:602938 ; xref: ENSEMBL:ENSG00000136881 ; xref: REACTOME:Q14032]
Autosomal recessive lymphoproliferative disease
Gene [OrphaNum:244711 ; Name:IL2-inducible T-cell kinase ; Symbol:ITK ; xref: GENATLAS:ITK ; xref: HGNC:6171 ; xref: UNIPROTKB/SWISSPROT:Q08881 ; xref: OMIM:186973 ; xref: ENSEMBL:ENSG00000113263 ; xref: REACTOME:Q08881]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987
Lymphoproliferative disorder with immunodeficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238510
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517
Atypical hypotonia - cystinuria syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238547
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic;
Von Hippel-Lindau-dependent polycythemia
Gene [OrphaNum:120467 ; Name:Von Hippel-Lindau tumor suppressor ; Symbol:VHL ; xref: GENATLAS:VHL ; xref: HGNC:12687 ; xref: OMIM:608537 ; xref: UNIPROTKB/SWISSPROT:P40337 ; xref: ENSEMBL:ENSG00000134086 ; xref: REACTOME:P40337]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557
Autosomal recessive early-onset inflammatory bowel disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569
Gene [OrphaNum:244742 ; Name:Interleukin 10 receptor, beta ; Symbol:IL10RB ; xref: HGNC:5965 ; xref: GENATLAS:IL10RB ; xref: OMIM:123889 ; xref: UNIPROTKB/SWISSPROT:Q08334 ; xref: ENSEMBL:ENSG00000243646]
Gene [OrphaNum:244737 ; Name:Interleukin 10 receptor, alpha ; Symbol:IL10RA ; xref: OMIM:146933 ; xref: UNIPROTKB/SWISSPROT:Q13651 ; xref: HGNC:5964 ; xref: GENATLAS:IL10RA ; xref: ENSEMBL:ENSG00000110324]
Familial clubfoot due to 17q23.1q23.2 microduplication
Hereditary clubfoot due to 17q23.1-q23.2 microduplication
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578
Hyperphenylalaninemia due to BH4 deficiency
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Nonphenylketonuric hyperphenylalaninemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583
Femoral hypoplasia - unusual facies syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988
Beckwith-Wiedemann syndrome due to NSD1 mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Unknown;
Congenital primary megaureter, obstructed form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646
Congenital primary megaureter, refluxing form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650
Congenital primary megaureter, nonrefluxing and unobstructed form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654
Isolated congenital hypogonadotropic hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666
Isolated thyrotropin-releasing hormone deficiency
Isolated TSH-releasing factor deficiency
Isolated thyrotropin-releasing factor deficiency
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238688
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238691
Transient congenital hypothyroidism due to maternal factor
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238696
Transient congenital hypothyroidism due to neonatal factor
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238699
Familial congenital controlateral synkinesia
Hereditary congenital controlateral synkinesia
Isolated congenital controlateral synkinesia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722
Gene [OrphaNum:118208 ; Name:RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) ; Symbol:RAD51 ; xref: GENATLAS:RAD51 ; xref: HGNC:9817 ; xref: OMIM:179617 ; xref: UNIPROTKB/SWISSPROT:Q06609 ; xref: REACTOME:Q06609 ; xref: ENSEMBL:ENSG00000051180]
Gene [OrphaNum:244810 ; Name:Deleted in colorectal carcinoma ; Symbol:DCC ; xref: OMIM:120470 ; xref: REACTOME:P43146 ; xref: GENATLAS:DCC ; xref: HGNC:2701 ; xref: UNIPROTKB/SWISSPROT:P43146 ; xref: ENSEMBL:ENSG00000187323]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750
Autosomal dominant limb-girdle muscular dystrophy type 1H
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238755
Megalocornea - spherophakia - secondary glaucoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763
Ptosis - syndactyly - learning difficulties
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238766
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769
Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995
Classical progressive supranuclear palsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic;
Progressive supranuclear palsy - parkinsonism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic;
Progressive supranuclear palsy - pure akinesia with gait freezing
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094
Progressive supranuclear palsy - corticobasal syndrome
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - apraxia of speech
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240371
Ectropion inferior - cleft lip and or palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997
Nijmegen breakage syndrome-like disorder
Microcephaly and chromosomal instability without immunodeficiency
Gene [OrphaNum:242004 ; Name:RAD50 homolog (S. cerevisiae) ; Symbol:RAD50 ; xref: GENATLAS:RAD50 ; xref: HGNC:9816 ; xref: UNIPROTKB/SWISSPROT:Q92878 ; xref: GENATLAS:604040 ; xref: REACTOME:Q92878 ; xref: ENSEMBL:ENSG00000113522]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760
Cleft lip/palate - intestinal malrotation - cardiopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive;
Cleft lip/palate - deafness - sacral lipoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004
Alar cartilages hypoplasia - coloboma - telecanthus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007
Cleft palate - cardiac defect - genital anomalies - ectrodactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008
Cleft palate - stapes fixation - oligodontia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010
Dimethylglycine dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343
Gene [OrphaNum:244279 ; Name:Dimethylglycine dehydrogenase ; Symbol:DMGDH ; xref: ENSEMBL:ENSG00000132837 ; xref: HGNC:24475 ; xref: GENATLAS:DMGDH ; xref: OMIM:605849 ; xref: UNIPROTKB/SWISSPROT:Q9UI17]
Biliary atresia with splenic malformation syndrome
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305
Gene [OrphaNum:244322 ; Name:Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 ; Symbol:SLC9A3R1 ; xref: ENSEMBL:ENSG00000109062 ; xref: GENATLAS:SLC9A3R1 ; xref: HGNC:11075 ; xref: OMIM:604990 ; xref: UNIPROTKB/SWISSPROT:O14745]
Gene [OrphaNum:227390 ; Name:Solute carrier family 34 (sodium phosphate), member 1 ; Symbol:SLC34A1 ; xref: GENATLAS:SLC34A1 ; xref: HGNC:11019 ; xref: UNIPROTKB/SWISSPROT:Q06495 ; xref: OMIM:182309 ; xref: ENSEMBL:ENSG00000131183 ; xref: REACTOME:Q06495]
Carbohydrate deficient glycoprotein syndrome type In
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type In
Gene [OrphaNum:244547 ; Name:RFT1 homolog (S. cerevisiae) ; Symbol:RFT1 ; xref: GENATLAS:RFT1 ; xref: HGNC:30220 ; xref: OMIM:611908 ; xref: UNIPROTKB/SWISSPROT:Q96AA3 ; xref: ENSEMBL:ENSG00000163933 ; xref: REACTOME:Q96AA3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198
Gene [OrphaNum:251270 ; Name:Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ; Symbol:SEPSECS ; xref: GENATLAS:SEPSECS ; xref: HGNC:30605 ; xref: OMIM:613009 ; xref: UNIPROTKB/SWISSPROT:Q9HD40 ; xref: ENSEMBL:ENSG00000109618]
Hyperphosphatasia intellectual deficiency syndrome
Gene [OrphaNum:304648 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class O ; Symbol:PIGO ; xref: HGNC:23215 ; xref: OMIM:614730 ; xref: UNIPROTKB/SWISSPROT:Q8TEQ8 ; xref: GENATLAS:PIGO]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262
Gene [OrphaNum:251503 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class V ; Symbol:PIGV ; xref: ENSEMBL:ENSG00000060642 ; xref: REACTOME:Q9NUD9 ; xref: GENATLAS:PIGV ; xref: HGNC:26031 ; xref: OMIM:610274 ; xref: UNIPROTKB/SWISSPROT:Q9NUD9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019
Autosomal recessive secondary polycythemia not associated with VHL gene
Autosomal recessive secondary erythrocytosis not associated with VHL gene
Autosomal recessive secondary erythrocytosis, non Chuvash type
Autosomal recessive secondary polycythemia, non Chuvash type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378
Autosomal dominant secondary polycythemia
Autosomal dominant secondary erythrocytosis
Gene [OrphaNum:183913 ; Name:Endothelial PAS domain protein 1 ; Symbol:EPAS1 ; xref: GENATLAS:EPAS1 ; xref: HGNC:3374 ; xref: OMIM:603349 ; xref: UNIPROTKB/SWISSPROT:Q99814 ; xref: ENSEMBL:ENSG00000116016]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511
Gene [OrphaNum:171073 ; Name:Egl nine homolog 1 (C. elegans) ; Symbol:EGLN1 ; xref: GENATLAS:EGLN1 ; xref: HGNC:1232 ; xref: OMIM:606425 ; xref: UNIPROTKB/SWISSPROT:Q9GZT9 ; xref: ENSEMBL:ENSG00000135766]
Primary ciliary dyskinesia - retinitis pigmentosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522
Argininosuccinic acid synthase deficiency
Argininosuccinic acid synthetase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546
Gene [OrphaNum:121468 ; Name:Argininosuccinate synthetase 1 ; Symbol:ASS1 ; xref: GENATLAS:ASS1 ; xref: HGNC:758 ; xref: OMIM:603470 ; xref: UNIPROTKB/SWISSPROT:P00966 ; xref: ENSEMBL:ENSG00000130707 ; xref: REACTOME:P00966]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582
Gene [OrphaNum:118786 ; Name:Solute carrier family 25, member 13 (citrin) ; Symbol:SLC25A13 ; xref: UNIPROTKB/SWISSPROT:Q9UJS0 ; xref: GENATLAS:SLC25A13 ; xref: HGNC:10983 ; xref: OMIM:603859 ; xref: ENSEMBL:ENSG00000004864 ; xref: REACTOME:Q9UJS0]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585
Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal intrahepatic cholestasis caused by citrin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021
Gene [OrphaNum:119644 ; Name:Amyotrophic lateral sclerosis 2 (juvenile) ; Symbol:ALS2 ; xref: ENSEMBL:ENSG00000003393 ; xref: GENATLAS:ALS2 ; xref: HGNC:443 ; xref: OMIM:606352 ; xref: UNIPROTKB/SWISSPROT:Q96Q42]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604
Gene [OrphaNum:119640 ; Name:Alkaline phosphatase, liver/bone/kidney ; Symbol:ALPL ; xref: GENATLAS:ALPL ; xref: HGNC:438 ; xref: OMIM:171760 ; xref: UNIPROTKB/SWISSPROT:P05186 ; xref: ENSEMBL:ENSG00000162551]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685
Retinal vasculopathy and cerebral leukodystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022
Gene [OrphaNum:183924 ; Name:Mitochondrially encoded tRNA leucine 2 (CUN) ; Symbol:MT-TL2 ; xref: GENATLAS:MT-TL2 ; xref: OMIM:590055 ; xref: HGNC:7491]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247765
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775
Gene [OrphaNum:159608 ; Name:Ferritin, heavy polypeptide 1 ; Symbol:FTH1 ; xref: GENATLAS:FTH1 ; xref: HGNC:3976 ; xref: OMIM:134770 ; xref: UNIPROTKB/SWISSPROT:P02794 ; xref: ENSEMBL:ENSG00000167996 ; xref: REACTOME:P02794]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790
Juvenile cataract - microcornea - renal glucosuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794
Gene [OrphaNum:140058 ; Name:Solute carrier family 16, member 12 (monocarboxylic acid transporter 12) ; Symbol:SLC16A12 ; xref: GENATLAS:SLC16A12 ; xref: OMIM:611910 ; xref: UNIPROTKB/SWISSPROT:Q6ZSM3 ; xref: HGNC:23094 ; xref: ENSEMBL:ENSG00000152779]
MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related attenuated familial polyposis coli
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798
Autosomal dominant gingival fibromatosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024
Gene [OrphaNum:119781 ; Name:Son of sevenless homolog 1 (Drosophila) ; Symbol:SOS1 ; xref: GENATLAS:SOS1 ; xref: HGNC:11187 ; xref: OMIM:182530 ; xref: UNIPROTKB/SWISSPROT:Q07889 ; xref: ENSEMBL:ENSG00000115904 ; xref: REACTOME:Q07889]
APC-related attenuated familial adenomatous polyposis
APC-related attenuated familial polyposis coli
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247806
Autosomal recessive ataxia due to PEX10 deficiency
Mild peroxismal disorder due to PEX10 deficiency
Gene [OrphaNum:124191 ; Name:Peroxisome biogenesis factor 10 ; Symbol:PEX10 ; xref: GENATLAS:PEX10 ; xref: HGNC:8851 ; xref: OMIM:602859 ; xref: UNIPROTKB/SWISSPROT:O60683 ; xref: ENSEMBL:ENSG00000157911]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815
Ectodermal dysplasia - syndactyly syndrome
Gene [OrphaNum:251683 ; Name:Poliovirus receptor-related 4 ; Symbol:PVRL4 ; xref: ENSEMBL:ENSG00000143217 ; xref: REACTOME:Q96NY8 ; xref: GENATLAS:PVRL4 ; xref: HGNC:19688 ; xref: OMIM:609607 ; xref: UNIPROTKB/SWISSPROT:Q96NY8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820
Ectodermal dysplasia - cutaneous syndactyly syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834
Gene [OrphaNum:251688 ; Name:Retinitis pigmentosa 1-like 1 ; Symbol:RP1L1 ; xref: ENSEMBL:ENSG00000183638 ; xref: GENATLAS:RP1L1 ; xref: HGNC:15946 ; xref: UNIPROTKB/SWISSPROT:Q8IWN7 ; xref: OMIM:608581]
NALP12-associated hereditary periodic fever syndrome
Familial cold autoinflammatory syndrome 2
Gene [OrphaNum:138361 ; Name:NLR family, pyrin domain containing 12 ; Symbol:NLRP12 ; xref: GENATLAS:NLRP12 ; xref: HGNC:22938 ; xref: OMIM:609648 ; xref: UNIPROTKB/SWISSPROT:P59046 ; xref: ENSEMBL:ENSG00000142405]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868
Gingival fibromatosis - facial dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248296
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248305
Hirsutism - congenital gingival hyperplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340
Rare thrombotic disorder due to a constitutional coagulation factors defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248361
Rare thrombotic disorder due to a constitutional platelet anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248401
Gingival fibromatosis - progressive deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250165
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028
Gene [OrphaNum:121369 ; Name:Anthrax toxin receptor 2 ; Symbol:ANTXR2 ; xref: HGNC:21732 ; xref: OMIM:608041 ; xref: UNIPROTKB/SWISSPROT:P58335 ; xref: GENATLAS:ANTXR2 ; xref: ENSEMBL:ENSG00000163297]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Autosomal dominant optic atrophy and peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932
Polymicrogyria with optic nerve hypoplasia
Gene [OrphaNum:260889 ; Name:tubulin, alpha 8 ; Symbol:TUBA8 ; xref: ENSEMBL:ENSG00000183785 ; xref: OMIM:605742 ; xref: UNIPROTKB/SWISSPROT:Q9NY65 ; xref: HGNC:12410 ; xref: GENATLAS:TUBA8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972
5-amino-4-imidazolecarboxamide ribosiduria
Gene [OrphaNum:260894 ; Name:5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ; Symbol:ATIC ; xref: REACTOME:P31939 ; xref: HGNC:794 ; xref: OMIM:601731 ; xref: GENATLAS:ATIC ; xref: UNIPROTKB/SWISSPROT:P31939 ; xref: ENSEMBL:ENSG00000138363]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994
Gene [OrphaNum:120204 ; Name:Tumor protein p53 (Li-Fraumeni syndrome) ; Symbol:TP53 ; xref: ENSEMBL:ENSG00000141510 ; xref: REACTOME:P04637 ; xref: GENATLAS:TP53 ; xref: HGNC:11998 ; xref: OMIM:191170 ; xref: UNIPROTKB/SWISSPROT:P04637]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524
Gene [OrphaNum:119394 ; Name:CHK2 checkpoint homolog (S. pombe) ; Symbol:CHEK2 ; xref: OMIM:604373 ; xref: UNIPROTKB/SWISSPROT:O96017 ; xref: GENATLAS:CHEK2 ; xref: HGNC:16627 ; xref: REACTOME:O96017 ; xref: ENSEMBL:ENSG00000183765]
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2029
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999
Paternal uniparental disomy of chromosome 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004
Maternal uniparental disomy of chromosome 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014
Gene [OrphaNum:138514 ; Name:SATB homeobox 2 ; Symbol:SATB2 ; xref: GENATLAS:SATB2 ; xref: HGNC:21637 ; xref: OMIM:608148 ; xref: UNIPROTKB/SWISSPROT:Q9UPW6 ; xref: ENSEMBL:ENSG00000119042]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046
Gene [OrphaNum:293095 ; Name:AT rich interactive domain 1B (SWI1-like) ; Symbol:ARID1B ; xref: HGNC:18040 ; xref: OMIM:614556 ; xref: GENATLAS:ARID1B ; xref: UNIPROTKB/SWISSPROT:Q8NFD5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061
Gene [OrphaNum:121356 ; Name:Ankyrin 1, erythrocytic ; Symbol:ANK1 ; xref: GENATLAS:ANK1 ; xref: HGNC:492 ; xref: OMIM:612641 ; xref: UNIPROTKB/SWISSPROT:P16157 ; xref: ENSEMBL:ENSG00000029534 ; xref: REACTOME:P16157]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076
Osteochondritis dissecans and short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282
Benign concentric annular macular dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287
Parietal foramina with cleidocranial dysplasia
Parietal foramina with cleidocranial dysostosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290
Pigmented paravenous retinochoroidal atrophy
Gene [OrphaNum:120803 ; Name:Crumbs homolog 1 (Drosophila) ; Symbol:CRB1 ; xref: GENATLAS:CRB1 ; xref: HGNC:2343 ; xref: OMIM:604210 ; xref: UNIPROTKB/SWISSPROT:P82279 ; xref: ENSEMBL:ENSG00000134376]
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295
Tracheo-esophageal fistula - hypospadias
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2042
Gene [OrphaNum:123483 ; Name:MRE11 meiotic recombination 11 homolog A (S. cerevisiae) ; Symbol:MRE11A ; xref: GENATLAS:MRE11A ; xref: HGNC:7230 ; xref: OMIM:600814 ; xref: UNIPROTKB/SWISSPROT:P49959 ; xref: ENSEMBL:ENSG00000020922 ; xref: REACTOME:P49959]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347
Sickle cell disease associated with an other hemoglobin anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251355
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375
Hereditary persistence of fetal hemoglobin - sickle cell disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380
X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus
Gene [OrphaNum:123942 ; Name:NAD(P) dependent steroid dehydrogenase-like ; Symbol:NSDHL ; xref: GENATLAS:NSDHL ; xref: HGNC:13398 ; xref: OMIM:300275 ; xref: UNIPROTKB/SWISSPROT:Q15738 ; xref: ENSEMBL:ENSG00000147383 ; xref: REACTOME:Q15738]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383
Localized junctional epidermolysis bullosa, non-Herlitz type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393
Gene [OrphaNum:120554 ; Name:WW domain containing oxidoreductase ; Symbol:WWOX ; xref: REACTOME:Q9NZC7 ; xref: UNIPROTKB/SWISSPROT:Q9NZC7 ; xref: GENATLAS:WWOX ; xref: HGNC:12799 ; xref: OMIM:605131 ; xref: ENSEMBL:ENSG00000186153]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523
Paraplegia - intellectual deficit - hyperkeratosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- X-linked recessive;
Gene [OrphaNum:292309 ; Name:Snf2-related CREBBP activator protein ; Symbol:SRCAP ; xref: HGNC:16974 ; xref: OMIM:611421 ; xref: GENATLAS:SRCAP ; xref: UNIPROTKB/SWISSPROT:Q6ZRS2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044
Leukonychia totalis - trichilemmal cysts - ciliary dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047
Hypoxanthine guanine phosphoribosyltransferase complete deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510
Bone fragility - craniosynostosis - proptosis - hydrocephalus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050
Growth deficiency - brachydactyly - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2055
Constitutional mismatch repair deficiency syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Gene [OrphaNum:266184 ; Name:lysyl-tRNA synthetase ; Symbol:KARS ; xref: REACTOME:Q15046 ; xref: ENSEMBL:ENSG00000065427 ; xref: HGNC:6215 ; xref: OMIM:601421 ; xref: GENATLAS:KARS ; xref: UNIPROTKB/SWISSPROT:Q15046]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334
Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351
Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826
Motor developmental delay due to 14q32.2 paternally expressed gene defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516
Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
MCA due to 14q32.2 maternally expressed gene defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250
Gene [OrphaNum:189330 ; Name:ALX homeobox 3 ; Symbol:ALX3 ; xref: ENSEMBL:ENSG00000156150 ; xref: GENATLAS:ALX3 ; xref: HGNC:449 ; xref: OMIM:606014 ; xref: UNIPROTKB/SWISSPROT:O95076]
Paternal 14q32.2 hypomethylation syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531
Maternal 14q32.2 hypermethylation syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698
Genetic hyperferritinemia without iron overload
prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254707
Familial sinus histiocytosis with massive lymphadenopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254712
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254723
Frontonasal dysplasia - Klippel-Feil syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1828
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254746
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254749
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254758
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254767
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254776
Maternally-inherited mitochondrial myopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254793
Mitochondrial DNA depletion syndrome, encephalomyopathic form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803
Multiple mitochondrial DNA deletion syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254807
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254818
Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254822
Mitochondrial membrane transport disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254827
Mitochondrial substrate carrier disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254830
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254834
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837
Exercise intolerance with lactic acidosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254843
Isolated oxidative phosphorylation complex disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254846
Maternally-inherited mitochondrial dystonia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851
prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Diaphragmatic hernia - abnormal face - distal limb anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Infantile reversible cytochrome c oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome c oxidase deficiency
Reversible infantile respiratory chain deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Mitochondrial inheritance;
Gene [OrphaNum:140514 ; Name:Mitochondrially encoded tRNA glutamic acid ; Symbol:MT-TE ; xref: GENATLAS:MT-TE ; xref: HGNC:7479 ; xref: OMIM:590025]
Mitochondrial DNA depletion syndrome, hepatocerebral form
mtDNA depletion syndrome, hepatocerebral form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871
Mitochondrial DNA depletion syndrome, myopathic form
mtDNA depletion syndrome, myopathic form
Gene [OrphaNum:120120 ; Name:Thymidine kinase 2, mitochondrial ; Symbol:TK2 ; xref: GENATLAS:TK2 ; xref: HGNC:11831 ; xref: OMIM:188250 ; xref: UNIPROTKB/SWISSPROT:O00142 ; xref: ENSEMBL:ENSG00000166548 ; xref: REACTOME:O00142]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881
Autosomal recessive progressive external ophthalmoplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886
Autosomal dominant progressive external ophthalmoplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892
Gene [OrphaNum:117927 ; Name:Polymerase (DNA directed), gamma 2, accessory subunit ; Symbol:POLG2 ; xref: GENATLAS:POLG2 ; xref: HGNC:9180 ; xref: OMIM:604983 ; xref: UNIPROTKB/SWISSPROT:Q9UHN1 ; xref: ENSEMBL:ENSG00000256525]
Gene [OrphaNum:168101 ; Name:Ribonucleotide reductase M2 B (TP53 inducible) ; Symbol:RRM2B ; xref: OMIM:604712 ; xref: UNIPROTKB/SWISSPROT:Q9NTD8 ; xref: GENATLAS:RRM2B ; xref: HGNC:17296 ; xref: ENSEMBL:ENSG00000048392 ; xref: REACTOME:Q9NTD8]
Gene [OrphaNum:118807 ; Name:Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 ; Symbol:SLC25A4 ; xref: GENATLAS:SLC25A4 ; xref: HGNC:10990 ; xref: OMIM:103220 ; xref: UNIPROTKB/SWISSPROT:P12235 ; xref: ENSEMBL:ENSG00000151729 ; xref: REACTOME:P12235]
Deafness - encephaloneuropathy - obesity - valvulopathy
Hearing loss - encephaloneuropathy - obesity - valvulopathy
Gene [OrphaNum:252458 ; Name:Prenyl (decaprenyl) diphosphate synthase, subunit 1 ; Symbol:PDSS1 ; xref: ENSEMBL:ENSG00000148459 ; xref: GENATLAS:PDSS1 ; xref: HGNC:17759 ; xref: OMIM:607429 ; xref: UNIPROTKB/SWISSPROT:Q5T2R2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898
Renal tubulopathy - encephalopathy - liver failure
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902
Isolated cytochrome C oxidase deficiency
Isolated mitochondrial respiratory chain complex IV deficiency
Gene [OrphaNum:123516 ; Name:Mitochondrially encoded cytochrome c oxidase II ; Symbol:MT-CO2 ; xref: GENATLAS:MT-CO2 ; xref: HGNC:7421 ; xref: OMIM:516040 ; xref: UNIPROTKB/SWISSPROT:P00403 ; xref: ENSEMBL:ENSG00000198712 ; xref: REACTOME:P00403]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905
Gene [OrphaNum:291843 ; Name:COX14 cytochrome c oxidase assembly homolog (S. cerevisiae) ; Symbol:COX14 ; xref: HGNC:28216 ; xref: OMIM:614478 ; xref: UNIPROTKB/SWISSPROT:Q96I36 ; xref: GENATLAS:C12orf62 ; xref: ENSEMBL:ENSG00000178449]
Isolated mitochondrial respiratory chain complex V deficiency
Gene [OrphaNum:267365 ; Name:ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit ; Symbol:ATP5E ; xref: REACTOME:P56381 ; xref: ENSEMBL:ENSG00000124172 ; xref: HGNC:838 ; xref: OMIM:606153 ; xref: GENATLAS:ATP5E ; xref: UNIPROTKB/SWISSPROT:P56381]
Gene [OrphaNum:169415 ; Name:Transmembrane protein 70 ; Symbol:TMEM70 ; xref: GENATLAS:TMEM70 ; xref: HGNC:26050 ; xref: OMIM:612418 ; xref: UNIPROTKB/SWISSPROT:Q9BUB7 ; xref: ENSEMBL:ENSG00000175606]
Gene [OrphaNum:118892 ; Name:ATP synthase mitochondrial F1 complex assembly factor 2 ; Symbol:ATPAF2 ; xref: GENATLAS:ATPAF2 ; xref: HGNC:18802 ; xref: OMIM:608918 ; xref: UNIPROTKB/SWISSPROT:Q8N5M1 ; xref: ENSEMBL:ENSG00000171953]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913
Combined oxidative phosphorylation defect type 2
Gene [OrphaNum:267232 ; Name:mitochondrial ribosomal protein S16 ; Symbol:MRPS16 ; xref: GENATLAS:MRPS16 ; xref: ENSEMBL:ENSG00000182180 ; xref: OMIM:609204 ; xref: UNIPROTKB/SWISSPROT:Q9Y3D3 ; xref: HGNC:14048]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920
Combined oxidative phosphorylation defect type 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925
Gene [OrphaNum:267235 ; Name:Tu translation elongation factor, mitochondrial ; Symbol:TUFM ; xref: ENSEMBL:ENSG00000178952 ; xref: HGNC:12420 ; xref: OMIM:602389 ; xref: GENATLAS:TUFM ; xref: UNIPROTKB/SWISSPROT:P49411]
Combined oxidative phosphorylation defect type 7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930
Autosomal dominant optic atrophy and late-onset deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255117
Autosomal recessive pyridoxine-refractory sideroblastic anemia
Gene [OrphaNum:200717 ; Name:Solute carrier family 25, member 38 ; Symbol:SLC25A38 ; xref: UNIPROTKB/SWISSPROT:Q96DW6 ; xref: ENSEMBL:ENSG00000144659 ; xref: GENATLAS:SLC25A38 ; xref: OMIM:610819 ; xref: HGNC:26054]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132
Gene [OrphaNum:169900 ; Name:Glutaredoxin 5 ; Symbol:GLRX5 ; xref: GENATLAS:GLRX5 ; xref: HGNC:20134 ; xref: OMIM:609588 ; xref: UNIPROTKB/SWISSPROT:Q86SX6 ; xref: ENSEMBL:ENSG00000182512]
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase complex E1 component subunit beta deficiency
Gene [OrphaNum:124164 ; Name:Pyruvate dehydrogenase (lipoamide) beta ; Symbol:PDHB ; xref: GENATLAS:PDHB ; xref: HGNC:8808 ; xref: OMIM:179060 ; xref: UNIPROTKB/SWISSPROT:P11177 ; xref: REACTOME:P11177 ; xref: ENSEMBL:ENSG00000168291]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138
Pyruvate dehydrogenase E3-binding protein deficiency
Branched chain keto acid dehydrogenase complex deficiency
Glycine cleavage system L protein deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency
Gene [OrphaNum:124166 ; Name:Pyruvate dehydrogenase complex, component X ; Symbol:PDHX ; xref: GENATLAS:PDHX ; xref: HGNC:21350 ; xref: OMIM:608769 ; xref: UNIPROTKB/SWISSPROT:O00330 ; xref: ENSEMBL:ENSG00000110435 ; xref: REACTOME:O00330]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182
Sporadic infantile subacute necrotizing encephalopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255199
Maternally-inherited infantile subacute necrotizing encephalopathy
Gene [OrphaNum:160307 ; Name:Mitochondrially encoded tRNA tryptophan ; Symbol:MT-TW ; xref: GENATLAS:MT-TW ; xref: HGNC:7501 ; xref: OMIM:590095]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210
Gene [OrphaNum:138895 ; Name:Mitochondrially encoded tRNA leucine 1 (UUA/G) ; Symbol:MT-TL1 ; xref: GENATLAS:MT-TL1 ; xref: HGNC:7490 ; xref: OMIM:590050]
Gene [OrphaNum:267449 ; Name:mitochondrially encoded tRNA valine ; Symbol:MT-TV ; xref: GENATLAS:MT-TV ; xref: HGNC:7500 ; xref: OMIM:590105]
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Gene [OrphaNum:138900 ; Name:Mitochondrially encoded tRNA lysine ; Symbol:MT-TK ; xref: GENATLAS:MT-TK ; xref: HGNC:7489 ; xref: OMIM:590060]
Ambiguous genitalia - normal Mullerian development
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2061
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Unknown;
Maternally-inherited mitochondrial dilated cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255222
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Maternally-inherited mitochondrial hypertrophic cardiomyopathy
Gene [OrphaNum:188805 ; Name:Mitochondrially encoded tRNA glycine ; Symbol:MT-TG ; xref: HGNC:7486 ; xref: OMIM:590035 ; xref: GENATLAS:MT-TG]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255225
Gene [OrphaNum:160303 ; Name:Mitochondrially encoded tRNA isoleucine ; Symbol:MT-TI ; xref: GENATLAS:MT-TI ; xref: HGNC:7488 ; xref: OMIM:590045]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229
Gene [OrphaNum:123470 ; Name:MpV17 mitochondrial inner membrane protein ; Symbol:MPV17 ; xref: GENATLAS:MPV17 ; xref: HGNC:7224 ; xref: OMIM:137960 ; xref: UNIPROTKB/SWISSPROT:P39210 ; xref: ENSEMBL:ENSG00000115204]
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235
Infantile subacute necrotizing encephalopathy with leukodystrophy
Gene [OrphaNum:252455 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa ; Symbol:NDUFA2 ; xref: UNIPROTKB/SWISSPROT:O43678 ; xref: OMIM:602137 ; xref: REACTOME:O43678 ; xref: ENSEMBL:ENSG00000131495 ; xref: GENATLAS:NDUFA2 ; xref: HGNC:7685]
Gene [OrphaNum:123743 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS8 ; xref: ENSEMBL:ENSG00000110717 ; xref: GENATLAS:NDUFS8 ; xref: HGNC:7715 ; xref: OMIM:602141 ; xref: UNIPROTKB/SWISSPROT:O00217 ; xref: REACTOME:O00217]
Gene [OrphaNum:265457 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa ; Symbol:NDUFA10 ; xref: OMIM:603835 ; xref: HGNC:7684 ; xref: REACTOME:O95299 ; xref: ENSEMBL:ENSG00000130414 ; xref: GENATLAS:NDUFA10 ; xref: UNIPROTKB/SWISSPROT:O95299]
Gene [OrphaNum:169399 ; Name:Chromosome 8 open reading frame 38 ; Symbol:C8ORF38 ; xref: GENATLAS:C8ORF38 ; xref: HGNC:28625 ; xref: OMIM:612392 ; xref: UNIPROTKB/SWISSPROT:Q330K2 ; xref: ENSEMBL:ENSG00000156170]
Gene [OrphaNum:123738 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS7 ; xref: GENATLAS:NDUFS7 ; xref: HGNC:7714 ; xref: OMIM:601825 ; xref: UNIPROTKB/SWISSPROT:O75251 ; xref: REACTOME:O75251 ; xref: ENSEMBL:ENSG00000115286]
Gene [OrphaNum:123727 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS1 ; xref: GENATLAS:NDUFS1 ; xref: HGNC:7707 ; xref: OMIM:157655 ; xref: UNIPROTKB/SWISSPROT:P28331 ; xref: REACTOME:P28331 ; xref: ENSEMBL:ENSG00000023228]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255241
Gene [OrphaNum:123745 ; Name:NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa ; Symbol:NDUFV1 ; xref: GENATLAS:NDUFV1 ; xref: HGNC:7716 ; xref: OMIM:161015 ; xref: UNIPROTKB/SWISSPROT:P49821 ; xref: ENSEMBL:ENSG00000167792 ; xref: REACTOME:P49821]
Gene [OrphaNum:123733 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS4 ; xref: GENATLAS:NDUFS4 ; xref: HGNC:7711 ; xref: OMIM:602694 ; xref: UNIPROTKB/SWISSPROT:O43181 ; xref: REACTOME:O43181 ; xref: ENSEMBL:ENSG00000164258]
Gene [OrphaNum:123731 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS3 ; xref: GENATLAS:NDUFS3 ; xref: HGNC:7710 ; xref: OMIM:603846 ; xref: UNIPROTKB/SWISSPROT:O75489 ; xref: ENSEMBL:ENSG00000213619 ; xref: REACTOME:O75489]
Gene [OrphaNum:118549 ; Name:Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ; Symbol:SDHA ; xref: OMIM:600857 ; xref: UNIPROTKB/SWISSPROT:P31040 ; xref: GENATLAS:SDHA ; xref: HGNC:10680 ; xref: ENSEMBL:ENSG00000073578 ; xref: REACTOME:P31040]
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Gene [OrphaNum:121102 ; Name:Dihydrolipoamide dehydrogenase ; Symbol:DLD ; xref: GENATLAS:DLD ; xref: HGNC:2898 ; xref: OMIM:238331 ; xref: UNIPROTKB/SWISSPROT:P09622 ; xref: ENSEMBL:ENSG00000091140 ; xref: REACTOME:P09622]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255249
Splenogonadal fusion - limb defects - micrognathia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063
Posterior fusion of lumbosacral vertebrae - blepharoptosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064
Autosomal recessive congenital sideroblastic anemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305
Microcephaly - hiatus hernia - nephrotic syndrome
Nephrosis - neuronal dysmigration syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065
Distal 7q11.23 microduplication syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102
Growth delay - alopecia - pseudoanodontia - optic atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261112
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120
Gene [OrphaNum:167854 ; Name:Forkhead box G1 ; Symbol:FOXG1 ; xref: GENATLAS:FOXG1 ; xref: HGNC:3811 ; xref: OMIM:164874 ; xref: UNIPROTKB/SWISSPROT:P55316 ; xref: ENSEMBL:ENSG00000176165]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197
Gene [OrphaNum:293315 ; Name:SH2B adaptor protein 1 ; Symbol:SH2B1 ; xref: HGNC:30417 ; xref: OMIM:608937 ; xref: GENATLAS:SH2B1 ; xref: UNIPROTKB/SWISSPROT:Q9NRF2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243
Gene [OrphaNum:273977 ; Name:Ankyrin repeat domain 11 ; Symbol:ANKRD11 ; xref: ENSEMBL:ENSG00000167522 ; xref: OMIM:611192 ; xref: UNIPROTKB/SWISSPROT:Q6UB99 ; xref: HGNC:21316 ; xref: GENATLAS:ANKRD11]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272
Gene [OrphaNum:269925 ; Name:T-box 2 ; Symbol:TBX2 ; xref: ENSEMBL:ENSG00000121068 ; xref: GENATLAS:TBX2 ; xref: UNIPROTKB/SWISSPROT:Q13207 ; xref: HGNC:11597 ; xref: OMIM:600747]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295
Paternal 20q13.2q13.3 microdeletion syndrome
Paternal 20q13.2-q13.3 microdeletion syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330
Distal 22q11.2 microduplication syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494
Atypical Norrie disease due to monosomy Xp11.3
Atypical Norrie disease due to Xp11.3 microdeletion
Atypical Norrie disease due to del(X)(p11.3)
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501
Retinitis pigmentosa and intellectual deficit due to monosomy Xp11.3
Retinitis pigmentosa and intellectual deficit due to Xp11.3 microdeletion
Retinitis pigmentosa and intellectual deficit due to del(X)(p11.3)
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261512
Maternal uniparental disomy of chromosome X
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519
Paternal uniparental disomy of chromosome X
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534
Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual deficit due to 2q22 microdeletion
Hirschsprung disease and intellectual deficit due to del(2)(q22)
Hirschsprung disease and intellectual deficit due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
Gene [OrphaNum:120593 ; Name:Zinc finger E-box binding homeobox 2 ; Symbol:ZEB2 ; xref: GENATLAS:ZEB2 ; xref: HGNC:14881 ; xref: OMIM:605802 ; xref: UNIPROTKB/SWISSPROT:O60315 ; xref: ENSEMBL:ENSG00000169554]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537
Mowat-Wilson syndrome due to a point mutation
Hirschsprung disease and intellectual deficit due to a point mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072
Blepharophimosis - epicanthus inversus - ptosis, due to 3q23 microdeletion
Blepharophimosis - epicanthus inversus - ptosis, due to del(3)(q23)
Blepharophimosis - epicanthus inversus - ptosis, due to monosomy 3q23
Blepharophimosis types 1 and 2, due to 3q23 microdeletion
Blepharophimosis types 1 and 2, due to del(3)(q23)
Blepharophimosis types 1 and 2, due to monosomy 3q23
Gene [OrphaNum:121904 ; Name:Forkhead box L2 ; Symbol:FOXL2 ; xref: UNIPROTKB/SWISSPROT:P58012 ; xref: GENATLAS:FOXL2 ; xref: HGNC:1092 ; xref: OMIM:605597 ; xref: ENSEMBL:ENSG00000183770]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261559
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Blepharophimosis types 1 and 2 due to a point mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261572
Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Blepharophimosis types 1 and 2 due to polyA expansion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261579
Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584
Alagille syndrome due to 20p12 microdeletion
Alagille-Watson syndrome due to monosomy 20p12
Arteriohepatic dysplasia due to monosomy 20p12
Syndromic bile duct paucity due to monosomy 20p12
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Gene [OrphaNum:122719 ; Name:Jagged 1 ; Symbol:JAG1 ; xref: GENATLAS:JAG1 ; xref: HGNC:6188 ; xref: OMIM:601920 ; xref: UNIPROTKB/SWISSPROT:P78504 ; xref: REACTOME:P78504 ; xref: ENSEMBL:ENSG00000101384]
Alagille syndrome due to a JAG1 point mutation
Alagille-Watson syndrome due to a JAG1 point mutation
Arteriohepatic dysplasia due to a JAG1 point mutation
Syndromic bile duct paucity due to a JAG1 point mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a NOTCH2 point mutation
Alagille-Watson syndrome due to a NOTCH2 point mutation
Arteriohepatic dysplasia due to a NOTCH2 point mutation
Syndromic bile duct paucity due to a NOTCH2 point mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Okihiro syndrome due to 20q13 microdeletion
Duane-radial ray syndrome due to monosomy 20q13
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638
Okihiro syndrome due to a point mutation
Duane-radial ray syndrome due to a point mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647
Kleefstra syndrome due to a point mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261766
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261771
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261776
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261781
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261786
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261791
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261796
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078
Gene [OrphaNum:169953 ; Name:Golgin, RAB6-interacting ; Symbol:GORAB ; xref: HGNC:25676 ; xref: OMIM:607983 ; xref: GENATLAS:GORAB ; xref: UNIPROTKB/SWISSPROT:Q5T7V8 ; xref: ENSEMBL:ENSG00000120370]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261801
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261806
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261811
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261816
Partial deletion of the long arm of chromosome 12
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261821
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261826
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261831
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261836
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261841
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261846
Partial deletion of the short arm of chromosome 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261857
Partial deletion of the short arm of chromosome 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261866
Partial deletion of the short arm of chromosome 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261875
Partial deletion of the short arm of chromosome 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261884
Partial deletion of the short arm of chromosome 5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261893
Partial deletion of the short arm of chromosome 6
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261902
Partial deletion of the short arm of chromosome 7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261911
Partial deletion of the short arm of chromosome 8
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261920
Partial deletion of the short arm of chromosome 9
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261929
Partial deletion of the short arm of chromosome 10
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261938
Partial deletion of the short arm of chromosome 11
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261947
Partial deletion of the short arm of chromosome 16
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261956
Partial monosomy of the short arm of chromosome 17
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261965
Partial deletion of the short arm of chromosome 18
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261974
Partial deletion of the short arm of chromosome 19
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261983
Partial monosomy of the short arm of chromosome 20
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261992
Partial deletion of the long arm of chromosome 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262001
Partial deletion of the long arm of chromosome 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262010
Partial deletion of the long arm of chromosome 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262019
Partial deletion of the long arm of chromosome 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262029
Partial deletion of the long arm of chromosome 5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262038
Partial deletion of the long arm of chromosome 6
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262047
Partial deletion of the long arm of chromosome 7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262056
Partial deletion of the long arm of chromosome 8
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262065
Partial monosomy of the long arm of chromosome 9
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262074
Partial monosomy of the long arm of chromosome 10
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262083
Partial deletion of the long arm of chromosome 11
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262092
Partial deletion of the long arm of chromosome 13
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262101
Partial deletion of the long arm of chromosome 14
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262110
Partial deletion of the long arm of chromosome 15
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262119
Prominent glabella - microcephaly - hypogenitalism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083
Partial deletion of the long arm of chromosome 16
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262128
Partial deletion of the long arm of chromosome 17
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262137
Partial deletion of the long arm of chromosome 18
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262146
Partial deletion of the long arm of chromosome 19
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262155
Partial deletion of the long arm of chromosome 20
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262164
Partial deletion of the long arm of chromosome 21
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262173
Partial deletion of the long arm of chromosome 22
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262182
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262191
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262196
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262201
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262206
Partial trisomy/tetrasomy of chromosome 5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262211
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262628
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262633
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262638
Partial trisomy/tetrasomy of chromosome 9
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262643
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262648
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262653
Partial trisomy/tetrasomy of the short arm of chromosome 12
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262658
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262672
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262677
Partial trisomy/tetrasomy of chromosome 18
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262682
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262687
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262692
Partial duplication of the short arm of chromosome 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262698
Partial duplication of the short arm of chromosome 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262707
Partial duplication of the short arm of chromosome 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262716
Partial trisomy/tetrasomy of the short arm of chromosome 5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262725
Partial duplication of the short arm of chromosome 6
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262740
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58
Gene [OrphaNum:122078 ; Name:Glial fibrillary acidic protein ; Symbol:GFAP ; xref: GENATLAS:GFAP ; xref: HGNC:4235 ; xref: OMIM:137780 ; xref: UNIPROTKB/SWISSPROT:P14136 ; xref: ENSEMBL:ENSG00000131095 ; xref: REACTOME:P14136]
Glomerulonephritis - sparse hair - telangiectasis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2087
Partial duplication of the short arm of chromosome 7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262749
Partial duplication of the short arm of chromosome 8
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262758
Partial trisomy of the short arm of chromosome 9
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262767
Partial duplication of the short arm of chromosome 10
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262776
Partial duplication of the short arm of chromosome 11
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262785
Partial duplication of the short arm of chromosome 16
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262794
Partial duplication of the short arm of chromosome 17
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262803
Partial trisomy/tetrasomy of the short arm of chromosome 18
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262812
Partial trisomy of the short arm of chromosome 20
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262821
Partial duplication of the long arm of chromosome 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262833
Partial duplication of the long arm of chromosome 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262842
Partial duplication of the long arm of chromosome 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262851
Partial duplication of the long arm of chromosome 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262860
Partial trisomy of the long arm of chromosome 5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262869
Partial duplication of the long arm of chromosome 6
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262878
Partial duplication of the long arm of chromosome 7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262887
Partial duplication of the long arm of chromosome 8
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262896
Partial trisomy of the long arm of chromosome 9
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262905
Partial duplication of the long arm of chromosome 10
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262914
Partial duplication of the long arm of chromosome 11
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262923
Goniodysgenesis - intellectual deficit - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090
Partial duplication of the long arm of chromosome 13
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262932
Partial duplication of the long arm of chromosome 14
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262941
Partial duplication of the long arm of chromosome 15
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262950
Partial trisomy of the long arm of chromosome 16
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262959
Partial duplication of the long arm of chromosome 17
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262968
Partial trisomy of the long arm of chromosome 18
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262977
Partial duplication of the long arm of chromosome 19
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262986
Partial trisomy of the long arm of chromosome 20
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262995
Partial duplication of the long arm of chromosome 22
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263004
Multinodular goiter - cystic kidney - polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091
Gene [OrphaNum:269704 ; Name:glycogenin 1 ; Symbol:GYG1 ; xref: REACTOME:P46976 ; xref: OMIM:603942 ; xref: HGNC:4699 ; xref: GENATLAS:GYG1 ; xref: UNIPROTKB/SWISSPROT:P46976 ; xref: ENSEMBL:ENSG00000163754]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297
Gene [OrphaNum:159255 ; Name:Porcupine homolog (Drosophila) ; Symbol:PORCN ; xref: GENATLAS:PORCN ; xref: HGNC:17652 ; xref: OMIM:300651 ; xref: UNIPROTKB/SWISSPROT:Q9H237 ; xref: ENSEMBL:ENSG00000102312]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Microcornea, rod-cone dystrophy, cataract and posterior staphyloma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263355
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263417
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455
Gene [OrphaNum:122455 ; Name:Hepatocyte nuclear factor 4, alpha ; Symbol:HNF4A ; xref: GENATLAS:HNF4A ; xref: HGNC:5024 ; xref: OMIM:600281 ; xref: UNIPROTKB/SWISSPROT:P41235 ; xref: REACTOME:P41235 ; xref: IUPHAR:608 ; xref: ENSEMBL:ENSG00000101076]
Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458
Chondrodysplasia with congenital joint dislocations, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
Gene [OrphaNum:119431 ; Name:Carbohydrate (chondroitin 6) sulfotransferase 3 ; Symbol:CHST3 ; xref: GENATLAS:CHST3 ; xref: HGNC:1971 ; xref: OMIM:603799 ; xref: UNIPROTKB/SWISSPROT:Q7LGC8 ; xref: ENSEMBL:ENSG00000122863]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263476
Spondyloepiphyseal dysplasia, Maroteaux type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type IIi
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487
Gene [OrphaNum:269752 ; Name:component of oligomeric golgi complex 5 ; Symbol:COG5 ; xref: HGNC:14857 ; xref: OMIM:606821 ; xref: GENATLAS:COG5 ; xref: UNIPROTKB/SWISSPROT:Q9UP83 ; xref: ENSEMBL:ENSG00000164597]
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type Io
Gene [OrphaNum:269756 ; Name:dolichyl-phosphate mannosyltransferase polypeptide 3 ; Symbol:DPM3 ; xref: REACTOME:Q9P2X0 ; xref: HGNC:3007 ; xref: OMIM:605951 ; xref: GENATLAS:DPM3 ; xref: UNIPROTKB/SWISSPROT:Q9P2X0 ; xref: ENSEMBL:ENSG00000179085]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type IIj
Gene [OrphaNum:269762 ; Name:component of oligomeric golgi complex 4 ; Symbol:COG4 ; xref: ENSEMBL:ENSG00000103051 ; xref: UNIPROTKB/SWISSPROT:Q9H9E3 ; xref: HGNC:18620 ; xref: OMIM:606976 ; xref: GENATLAS:COG4]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type IIg
Gene [OrphaNum:173556 ; Name:Component of oligomeric golgi complex 1 ; Symbol:COG1 ; xref: GENATLAS:COG1 ; xref: HGNC:6545 ; xref: OMIM:606973 ; xref: UNIPROTKB/SWISSPROT:Q8WTW3 ; xref: ENSEMBL:ENSG00000166685]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
Progressive myoclonic epilepsy due to KCTD7 deficiency
Gene [OrphaNum:268343 ; Name:potassium channel tetramerisation domain containing 7 ; Symbol:KCTD7 ; xref: HGNC:21957 ; xref: OMIM:611725 ; xref: GENATLAS:KCTD7 ; xref: UNIPROTKB/SWISSPROT:Q96MP8 ; xref: ENSEMBL:ENSG00000243335]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376
Generalized peeling skin syndrome type A
Gene [OrphaNum:120083 ; Name:Transglutaminase 5 ; Symbol:TGM5 ; xref: GENATLAS:TGM5 ; xref: HGNC:11781 ; xref: OMIM:603805 ; xref: UNIPROTKB/SWISSPROT:O43548 ; xref: ENSEMBL:ENSG00000104055]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548
Generalized peeling skin syndrome type B
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553
Generalized peeling skin syndrome type C
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263558
Hereditary epidermolysis bullosa associated with ocular features
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263676
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263708
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263714
X chromosome number anomaly with female phenotype
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263717
Craniofacial dysostosis - genital, dental, cardiac anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095
X chromosome number anomaly with male phenotype
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263720
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263723
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263726
Partial monosomy of the short arm of chromosome X
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263731
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263746
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263749
Partial deletion of the long arm of chromosome X
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263756
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263768
Partial duplication of the short arm of chromosome X
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263775
Partial duplication of the long arm of chromosome X
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263783
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263793
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200
Gene [OrphaNum:118728 ; Name:SIX homeobox 6 ; Symbol:SIX6 ; xref: GENATLAS:SIX6 ; xref: HGNC:10892 ; xref: OMIM:606326 ; xref: UNIPROTKB/SWISSPROT:O95475 ; xref: ENSEMBL:ENSG00000184302]
Partial duplication of the short arm of chromosome 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264431
Gene [OrphaNum:159484 ; Name:Catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) ; Symbol:CTNND2 ; xref: ENSEMBL:ENSG00000169862 ; xref: GENATLAS:CTNND2 ; xref: HGNC:2516 ; xref: OMIM:604275 ; xref: UNIPROTKB/SWISSPROT:Q9UQB3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281
Gene [OrphaNum:158394 ; Name:Sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A ; Symbol:SEMA5A ; xref: REACTOME:Q13591 ; xref: GENATLAS:SEMA5A ; xref: HGNC:10736 ; xref: OMIM:609297 ; xref: UNIPROTKB/SWISSPROT:Q13591 ; xref: ENSEMBL:ENSG00000112902]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264450
Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
Glycogenosis due to liver phosphorylase kinase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580
Gene [OrphaNum:159810 ; Name:Phosphorylase kinase, gamma 2 (testis) ; Symbol:PHKG2 ; xref: GENATLAS:PHKG2 ; xref: HGNC:8931 ; xref: OMIM:172471 ; xref: UNIPROTKB/SWISSPROT:P15735 ; xref: ENSEMBL:ENSG00000156873 ; xref: REACTOME:P15735]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Gene [OrphaNum:117793 ; Name:Phosphorylase kinase, alpha 2 (liver) ; Symbol:PHKA2 ; xref: GENATLAS:PHKA2 ; xref: HGNC:8926 ; xref: UNIPROTKB/SWISSPROT:P46019 ; xref: OMIM:300798 ; xref: REACTOME:P46019 ; xref: ENSEMBL:ENSG00000044446]
Congenital pulmonary alveolar proteinosis
Gene [OrphaNum:120855 ; Name:Colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) ; Symbol:CSF2RB ; xref: GENATLAS:CSF2RB ; xref: HGNC:2436 ; xref: OMIM:138981 ; xref: UNIPROTKB/SWISSPROT:P32927 ; xref: ENSEMBL:ENSG00000100368 ; xref: REACTOME:P32927]
Gene [OrphaNum:140560 ; Name:ATP-binding cassette, sub-family A (ABC1), member 3 ; Symbol:ABCA3 ; xref: GENATLAS:ABCA3 ; xref: HGNC:33 ; xref: OMIM:601615 ; xref: UNIPROTKB/SWISSPROT:Q99758 ; xref: REACTOME:Q99758 ; xref: ENSEMBL:ENSG00000167972]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675
Gene [OrphaNum:209477 ; Name:Colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) ; Symbol:CSF2RA ; xref: ENSEMBL:ENSG00000198223 ; xref: REACTOME:P15509 ; xref: HGNC:2435 ; xref: OMIM:306250 ; xref: GENATLAS:CSF2RA ; xref: UNIPROTKB/SWISSPROT:P15509]
Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264992
Developmental delay - hypotonia - extremities hypertrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101
RAS-associated autoimmune lymphoproliferative disease
Autoimmune lymphoproliferative syndrome type 4
Autoimmune lymphoproliferative syndrome type IV
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129
Classic branched-chain ketoacid dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145
Intermediate branched-chain ketoacid dehydrogenase deficiency
Intermediate branched-chain ketoaciduria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162
Intermittent branched-chain ketoacid dehydrogenase deficiency
Intermittent branched-chain ketoaciduria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173
Thiamin-responsive maple syrup urine disease
Thiamin-responsive branched-chain ketoacid dehydrogenase deficiency
Thiamin-responsive branched-chain ketoaciduria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261
Hereditary thrombocytopenia with normal platelets
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322
Severe combined immunodeficiency and related disorders
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268330
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268337
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268377
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268384
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268388
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268392
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268397
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268740
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268748
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268752
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268758
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268762
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268766
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268770
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110
Lipoma associated with neurospinal dysraphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268832
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268835
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268838
Malformation of the neurenteric canal, spinal cord and column
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268871
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268874
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268907
Microcephaly with simplified gyral pattern
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268912
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950
Isolated focal cortical dysplasia type I
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961
Isolated focal cortical dysplasia type Ia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973
Isolated focal cortical dysplasia type Ib
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980
Isolated focal cortical dysplasia type Ic
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987
Isolated focal cortical dysplasia type II
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994
Isolated focal cortical dysplasia type IIa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001
Isolated focal cortical dysplasia type IIb
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269190
Premature degenerative osteoarthropathy of the hip
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114
Isolated Dandy-Walker malformation with hydrocephalus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212
Isolated Dandy-Walker malformation without hydrocephalus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115
Genetic nonsyndromic central nervous system malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269550
Holoprosencephaly - ectrodactyly - cleft lip palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269553
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269557
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269560
Genetic syndrome with a central nervous system malformation as major feature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269564
Genetic syndrome with a cerebellar malformation as major feature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269567
Genetic syndrome with a Dandy-Walker malformation as major feature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269570
Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269573
Short stature - craniofacial anomalies - genital hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency
Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Gene [OrphaNum:122511 ; Name:Hydroxysteroid (17-beta) dehydrogenase 3 ; Symbol:HSD17B3 ; xref: GENATLAS:HSD17B3 ; xref: HGNC:5212 ; xref: OMIM:605573 ; xref: UNIPROTKB/SWISSPROT:P37058 ; xref: ENSEMBL:ENSG00000130948 ; xref: REACTOME:P37058]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271832
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271835
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271841
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271844
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271847
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271853
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271870
Autoimmune lymphoproliferative syndrome-related disorder
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275511
Autoimmune lymphoproliferative syndrome with recurrent infections
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517
Gene [OrphaNum:138851 ; Name:Caspase 8, apoptosis-related cysteine peptidase ; Symbol:CASP8 ; xref: GENATLAS:CASP8 ; xref: HGNC:1509 ; xref: OMIM:601763 ; xref: UNIPROTKB/SWISSPROT:Q14790 ; xref: ENSEMBL:ENSG00000064012 ; xref: REACTOME:Q14790]
Dianzani autoimmune lymphoproliferative disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523
Gene [OrphaNum:279640 ; Name:Myostatin ; Symbol:MSTN ; xref: ENSEMBL:ENSG00000138379 ; xref: HGNC:4223 ; xref: OMIM:601788 ; xref: GENATLAS:MSTN ; xref: UNIPROTKB/SWISSPROT:O14793]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275534
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275729
Rare hemorrhagic disorder due to a platelets receptors defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275736
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275742
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749
Sickle cell disease and related diseases
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761
Idiopathic pulmonary arterial hypertension
Gene [OrphaNum:189338 ; Name:SMAD family member 9 ; Symbol:SMAD9 ; xref: ENSEMBL:ENSG00000120693 ; xref: REACTOME:O15198 ; xref: GENATLAS:SMAD9 ; xref: HGNC:6774 ; xref: OMIM:603295 ; xref: UNIPROTKB/SWISSPROT:O15198]
Gene [OrphaNum:117764 ; Name:Activin A receptor type II-like 1 ; Symbol:ACVRL1 ; xref: GENATLAS:ACVRL1 ; xref: HGNC:175 ; xref: OMIM:601284 ; xref: UNIPROTKB/SWISSPROT:P37023 ; xref: ENSEMBL:ENSG00000139567]
Gene [OrphaNum:119057 ; Name:Bone morphogenetic protein receptor, type II (serine/threonine kinase) ; Symbol:BMPR2 ; xref: GENATLAS:BMPR2 ; xref: HGNC:1078 ; xref: OMIM:600799 ; xref: UNIPROTKB/SWISSPROT:Q13873 ; xref: REACTOME:Q13873 ; xref: ENSEMBL:ENSG00000204217]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766
Heritable pulmonary arterial hypertension
Familial pulmonary arterial hypertension
Hereditary pulmonary arterial hypertension
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128
Behavioural variant of frontotemporal dementia
Gene [OrphaNum:119407 ; Name:Chromatin modifying protein 2B ; Symbol:CHMP2B ; xref: GENATLAS:CHMP2B ; xref: HGNC:24537 ; xref: OMIM:609512 ; xref: UNIPROTKB/SWISSPROT:Q9UQN3 ; xref: ENSEMBL:ENSG00000083937 ; xref: REACTOME:Q9UQN3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant;
Frontotemporal dementia with motor neuron disease
Frontotemporal dementia with amyotrophic lateral sclerosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872
Gene [OrphaNum:159615 ; Name:Fusion (involved in t(12;16) in malignant liposarcoma) ; Symbol:FUS ; xref: GENATLAS:FUS ; xref: HGNC:4010 ; xref: OMIM:137070 ; xref: UNIPROTKB/SWISSPROT:P35637 ; xref: ENSEMBL:ENSG00000089280 ; xref: REACTOME:P35637]
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant;
Gene [OrphaNum:158581 ; Name:TAR DNA binding protein ; Symbol:TARDBP ; xref: ENSEMBL:ENSG00000120948 ; xref: GENATLAS:TARDBP ; xref: HGNC:11571 ; xref: OMIM:605078 ; xref: UNIPROTKB/SWISSPROT:Q13148]
Gene [OrphaNum:286546 ; Name:Chromosome 9 open reading frame 72 ; Symbol:C9ORF72 ; xref: HGNC:28337 ; xref: OMIM:614260 ; xref: GENATLAS:C9orf72 ; xref: UNIPROTKB/SWISSPROT:Q96LT7 ; xref: ENSEMBL:ENSG00000147894]
Genetic neurodegenerative disease with dementia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276058
Genetic frontotemporal degeneration with dementia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276061
Bile acid CoA ligase deficiency and defective amidation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161
Cerebellar ataxia with azospermia and intellectual deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183
Gene [OrphaNum:279644 ; Name:Transglutaminase 6 ; Symbol:TGM6 ; xref: ENSEMBL:ENSG00000166948 ; xref: HGNC:16255 ; xref: OMIM:613900 ; xref: UNIPROTKB/SWISSPROT:O95932 ; xref: GENATLAS:TGM6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198
Gene [OrphaNum:279649 ; Name:NOP56 ribonucleoprotein homolog (yeast) ; Symbol:NOP56 ; xref: ENSEMBL:ENSG00000101361 ; xref: REACTOME:O00567 ; xref: HGNC:15911 ; xref: OMIM:614154 ; xref: UNIPROTKB/SWISSPROT:O00567 ; xref: GENATLAS:NOL5A]
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type VI, rapidly progressing
Gene [OrphaNum:121429 ; Name:Arylsulfatase B ; Symbol:ARSB ; xref: ENSEMBL:ENSG00000113273 ; xref: GENATLAS:ARSB ; xref: HGNC:714 ; xref: UNIPROTKB/SWISSPROT:P15848 ; xref: OMIM:611542]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, slowly progressing
Mucopolysaccharidosis type VI, slowly progressing
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
CATSPER1-related non syndromic male infertility
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234
Gene [OrphaNum:279661 ; Name:Cation channel, sperm associated 1 ; Symbol:CATSPER1 ; xref: ENSEMBL:ENSG00000175294 ; xref: HGNC:17116 ; xref: OMIM:606389 ; xref: UNIPROTKB/SWISSPROT:Q8NEC5 ; xref: GENATLAS:CATSPER1]
Gene [OrphaNum:118928 ; Name:Ataxin 3 ; Symbol:ATXN3 ; xref: OMIM:607047 ; xref: UNIPROTKB/SWISSPROT:P54252 ; xref: GENATLAS:ATXN3 ; xref: HGNC:7106 ; xref: ENSEMBL:ENSG00000066427]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238
Lymphedema - lymphangiectasia - intellectual deficit
Gene [OrphaNum:220744 ; Name:Collagen and calcium binding EGF domains 1 ; Symbol:CCBE1 ; xref: ENSEMBL:ENSG00000183287 ; xref: HGNC:29426 ; xref: GENATLAS:CCBE1 ; xref: OMIM:612753 ; xref: UNIPROTKB/SWISSPROT:Q6UXH8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244
Xeroderma pigmentosum complementation group A
Gene [OrphaNum:120567 ; Name:Xeroderma pigmentosum, complementation group A ; Symbol:XPA ; xref: REACTOME:P23025 ; xref: GENATLAS:XPA ; xref: HGNC:12814 ; xref: OMIM:611153 ; xref: UNIPROTKB/SWISSPROT:P23025 ; xref: ENSEMBL:ENSG00000136936]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276249
Xeroderma pigmentosum complementation group B
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276252
Xeroderma pigmentosum complementation group C
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276255
Gene [OrphaNum:120571 ; Name:Xeroderma pigmentosum, complementation group C ; Symbol:XPC ; xref: ENSEMBL:ENSG00000154767 ; xref: REACTOME:Q01831 ; xref: GENATLAS:XPC ; xref: HGNC:12816 ; xref: UNIPROTKB/SWISSPROT:Q01831 ; xref: OMIM:613208]
Xeroderma pigmentosum complementation group D
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276258
Xeroderma pigmentosum complementation group E
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276261
Gene [OrphaNum:121045 ; Name:Damage-specific DNA binding protein 2, 48kDa ; Symbol:DDB2 ; xref: GENATLAS:DDB2 ; xref: HGNC:2718 ; xref: OMIM:600811 ; xref: UNIPROTKB/SWISSPROT:Q92466 ; xref: ENSEMBL:ENSG00000134574 ; xref: REACTOME:Q92466]
Xeroderma pigmentosum complementation group F
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276264
Gene [OrphaNum:121595 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 4 ; Symbol:ERCC4 ; xref: GENATLAS:ERCC4 ; xref: HGNC:3436 ; xref: OMIM:133520 ; xref: UNIPROTKB/SWISSPROT:Q92889 ; xref: ENSEMBL:ENSG00000175595 ; xref: REACTOME:Q92889]
Xeroderma pigmentosum complementation group G
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276267
Ovotesticular disorder of sex development
Gene [OrphaNum:119792 ; Name:SRY (sex determining region Y)-box 9 ; Symbol:SOX9 ; xref: UNIPROTKB/SWISSPROT:P48436 ; xref: GENATLAS:SOX9 ; xref: HGNC:11204 ; xref: OMIM:608160 ; xref: ENSEMBL:ENSG00000125398]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138
Hemihyperplasia-multiple lipomatosis syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280
Gene [OrphaNum:209285 ; Name:Dicer 1, ribonuclease type III ; Symbol:DICER1 ; xref: OMIM:606241 ; xref: UNIPROTKB/SWISSPROT:Q9UPY3 ; xref: REACTOME:Q9UPY3 ; xref: GENATLAS:DICER1 ; xref: HGNC:17098 ; xref: ENSEMBL:ENSG00000100697]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399
Gene [OrphaNum:281690 ; Name:Biliverdin reductase A ; Symbol:BLVRA ; xref: HGNC:1062 ; xref: OMIM:109750 ; xref: ENSEMBL:ENSG00000106605 ; xref: REACTOME:P53004 ; xref: GENATLAS:BLVRA ; xref: UNIPROTKB/SWISSPROT:P53004]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405
Cerebral vasculopathy with early-onset stroke
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276410
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422
Intellectual deficit - epilepsy - bulbous nose
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432
Gene [OrphaNum:281695 ; Name:N(alpha)-acetyltransferase 10, NatA catalytic subunit ; Symbol:NAA10 ; xref: ENSEMBL:ENSG00000102030 ; xref: OMIM:300013 ; xref: HGNC:18704 ; xref: UNIPROTKB/SWISSPROT:P41227 ; xref: GENATLAS:ARD1A]
Lower motor neuron syndrome with late-adult onset
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276525
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
Gene [OrphaNum:298784 ; Name:Uncoupling protein 2 (mitochondrial, proton carrier) ; Symbol:UCP2 ; xref: HGNC:12518 ; xref: OMIM:601693 ; xref: GENATLAS:UCP2 ; xref: UNIPROTKB/SWISSPROT:P55851]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603
Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608
Symptomatic form of Coffin-Lowry syndrome in female carriers
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630
prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Pulmonic stenosis with 'cafe-au-lait' spots
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3444
Diaphragmatic defect - limb deficiency - skull defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934
Gene [OrphaNum:121059 ; Name:Deoxyguanosine kinase ; Symbol:DGUOK ; xref: GENATLAS:DGUOK ; xref: HGNC:2858 ; xref: OMIM:601465 ; xref: UNIPROTKB/SWISSPROT:Q16854 ; xref: REACTOME:Q16854 ; xref: ENSEMBL:ENSG00000114956]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943
Gene [OrphaNum:159476 ; Name:Colony stimulating factor 3 receptor (granulocyte) ; Symbol:CSF3R ; xref: GENATLAS:CSF3R ; xref: HGNC:2439 ; xref: OMIM:138971 ; xref: UNIPROTKB/SWISSPROT:Q99062 ; xref: ENSEMBL:ENSG00000119535]
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
Gene [OrphaNum:280090 ; Name:Asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) ; Symbol:ALG11 ; xref: ENSEMBL:ENSG00000253710 ; xref: HGNC:32456 ; xref: OMIM:613666 ; xref: GENATLAS:ALG11 ; xref: GENATLAS:Q2TAA5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143
Gene [OrphaNum:159747 ; Name:Low density lipoprotein-related protein 2 ; Symbol:LRP2 ; xref: GENATLAS:LRP2 ; xref: HGNC:6694 ; xref: OMIM:600073 ; xref: UNIPROTKB/SWISSPROT:P98164 ; xref: ENSEMBL:ENSG00000081479 ; xref: REACTOME:P98164]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133
Severe combined immunodeficiency due to LCK deficiency
SCID due to lymphocyte-specific protein tyrosine kinase deficiency
Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
Gene [OrphaNum:280151 ; Name:Lymphocyte-specific protein tyrosine kinase ; Symbol:LCK ; xref: ENSEMBL:ENSG00000182866 ; xref: REACTOME:P06239 ; xref: HGNC:6524 ; xref: OMIM:153390 ; xref: GENATLAS:LCK ; xref: UNIPROTKB/SWISSPROT:P06239]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142
Methylmalonic aciduria due to transcobalamin receptor defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183
Gene [OrphaNum:280190 ; Name:CD320 molecule ; Symbol:CD320 ; xref: ENSEMBL:ENSG00000167775 ; xref: GENATLAS:CD320 ; xref: UNIPROTKB/SWISSPROT:Q9NPF0 ; xref: HGNC:16692 ; xref: OMIM:606475]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205
Pelizaeus-Merzbacher disease, connatal form
Type II connatal Pelizaeus-Merzbacher disease
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- X-linked recessive;
Gene [OrphaNum:117894 ; Name:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ; Symbol:PLP1 ; xref: GENATLAS:PLP1 ; xref: HGNC:9086 ; xref: OMIM:300401 ; xref: UNIPROTKB/SWISSPROT:P60201 ; xref: ENSEMBL:ENSG00000123560]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210
Pelizaeus-Merzbacher disease, classic form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145
Pelizaeus-Merzbacher disease, transitional form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224
Pelizaeus-Merzbacher disease in female carriers
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229
Pelizaeus-Merzbacher disease, null syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280239
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280248
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270
Pelizaeus-Merzbacher-like due to GJC2 mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Gene [OrphaNum:258625 ; Name:Aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 ; Symbol:AIMP1 ; xref: ENSEMBL:ENSG00000164022 ; xref: REACTOME:Q12904 ; xref: OMIM:603605 ; xref: HGNC:10648 ; xref: GENATLAS:AIMP1 ; xref: UNIPROTKB/SWISSPROT:Q12904]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293
Pelizaeus-Merzbacher-like due to SLC16A2 mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280296
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325
Autosomal recessive limb-girdle muscular dystrophy - dystroglycanopathy type C7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333
Gene [OrphaNum:280347 ; Name:Dystroglycan 1 (dystrophin-associated glycoprotein 1) ; Symbol:DAG1 ; xref: ENSEMBL:ENSG00000173402 ; xref: HGNC:2666 ; xref: OMIM:128239 ; xref: GENATLAS:DAG1 ; xref: UNIPROTKB/SWISSPROT:Q14118]
Familial partial lipodystrophy associated with PLIN1 mutations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356
Gene [OrphaNum:280360 ; Name:Perilipin 1 ; Symbol:PLIN1 ; xref: ENSEMBL:ENSG00000166819 ; xref: REACTOME:O60240 ; xref: HGNC:9076 ; xref: OMIM:170290 ; xref: GENATLAS:PLIN1 ; xref: UNIPROTKB/SWISSPROT:O60240]
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149
Autosomal codominant severe lipodystrophic laminopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365
Erythropoietic uroporphyria associated with myeloid malignancy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384
Familial omphalocele syndrome with facial dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403
Lissencephaly type 1 due to doublecortin gene mutation
Gene [OrphaNum:121038 ; Name:Doublecortin ; Symbol:DCX ; xref: GENATLAS:DCX ; xref: HGNC:2714 ; xref: OMIM:300121 ; xref: UNIPROTKB/SWISSPROT:O43602 ; xref: ENSEMBL:ENSG00000077279 ; xref: REACTOME:O43602]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406
Gene [OrphaNum:280409 ; Name:Coenzyme Q6 homolog, monooxygenase (S. cerevisiae) ; Symbol:COQ6 ; xref: ENSEMBL:ENSG00000119723 ; xref: OMIM:614647 ; xref: HGNC:20233 ; xref: GENATLAS:COQ6 ; xref: UNIPROTKB/SWISSPROT:Q9Y2Z9]
Fatal infantile hypertonic myofibrillar myopathy
Alpha-B crystallin-related myofibrillar myopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553
Gene [OrphaNum:280563 ; Name:DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 ; Symbol:DDX11 ; xref: ENSEMBL:ENSG00000013573 ; xref: REACTOME:Q96FC9 ; xref: HGNC:2736 ; xref: OMIM:601150 ; xref: GENATLAS:DDX11 ; xref: UNIPROTKB/SWISSPROT:Q96FC9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280569
Gene [OrphaNum:280581 ; Name:Barrier to autointegration factor 1 ; Symbol:BANF1 ; xref: ENSEMBL:ENSG00000175334 ; xref: REACTOME:O75531 ; xref: HGNC:17397 ; xref: OMIM:603811 ; xref: GENATLAS:BANF1 ; xref: UNIPROTKB/SWISSPROT:O75531]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576
Chondrodysplasia with joint dislocations, gPAPP type
Gene [OrphaNum:280591 ; Name:Inositol monophosphatase domain containing 1 ; Symbol:IMPAD1 ; xref: ENSEMBL:ENSG00000104331 ; xref: HGNC:26019 ; xref: OMIM:614010 ; xref: GENATLAS:IMPAD1 ; xref: UNIPROTKB/SWISSPROT:Q9NX62]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586
Hereditary sensorimotor neuropathy with hyperelastic skin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598
Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620
Gene [OrphaNum:280623 ; Name:Golgi SNAP receptor complex member 2 ; Symbol:GOSR2 ; xref: ENSEMBL:ENSG00000108433 ; xref: REACTOME:O14653 ; xref: HGNC:4431 ; xref: OMIM:604027 ; xref: GENATLAS:GOSR2 ; xref: UNIPROTKB/SWISSPROT:O14653]
Familial progressive hyper- and hypopigmentation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628
Multiple congenital anomalies - hypotonia - seizures syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633
Gene [OrphaNum:280636 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class N ; Symbol:PIGN ; xref: REACTOME:O95427 ; xref: ENSEMBL:ENSG00000197563 ; xref: HGNC:8967 ; xref: OMIM:606097 ; xref: GENATLAS:PIGN ; xref: UNIPROTKB/SWISSPROT:O95427]
Occipital malformations of cortical development
Gene [OrphaNum:280647 ; Name:Laminin, gamma 3 ; Symbol:LAMC3 ; xref: ENSEMBL:ENSG00000050555 ; xref: REACTOME:Q9Y6N6 ; xref: HGNC:6494 ; xref: OMIM:604349 ; xref: GENATLAS:LAMC3 ; xref: UNIPROTKB/SWISSPROT:Q9Y6N6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640
Acrodysostosis with multiple hormone resistance
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280651
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654
Gene [OrphaNum:280659 ; Name:Frizzled family receptor 6 ; Symbol:FZD6 ; xref: ENSEMBL:ENSG00000164930 ; xref: IUPHAR:234 ; xref: REACTOME:O60353 ; xref: HGNC:4044 ; xref: OMIM:603409 ; xref: GENATLAS:FZD6 ; xref: UNIPROTKB/SWISSPROT:O60353]
Gene [OrphaNum:280669 ; Name:Pallidin homolog (mouse) ; Symbol:PLDN ; xref: ENSEMBL:ENSG00000104164 ; xref: REACTOME:Q9UL45 ; xref: HGNC:8549 ; xref: OMIM:604310 ; xref: GENATLAS:PLDN ; xref: UNIPROTKB/SWISSPROT:Q9UL45]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280663
Congenital muscular dystrophy due to phosphatidyl choline biosynthesis defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671
Gene [OrphaNum:280675 ; Name:Choline kinase beta ; Symbol:CHKB ; xref: ENSEMBL:ENSG00000100288 ; xref: HGNC:1938 ; xref: OMIM:612395 ; xref: GENATLAS:CHKB ; xref: UNIPROTKB/SWISSPROT:Q9Y259]
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Gene [OrphaNum:268795 ; Name:BRCA1/BRCA2-containing complex, subunit 3 ; Symbol:BRCC3 ; xref: ENSEMBL:ENSG00000185515 ; xref: HGNC:24185 ; xref: OMIM:300617 ; xref: GENATLAS:BRCC3 ; xref: UNIPROTKB/SWISSPROT:P46736]
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679
Severe intellectual deficit and progressive spastic paraplegia
Gene [OrphaNum:270045 ; Name:adaptor-related protein complex 4, epsilon 1 subunit ; Symbol:AP4E1 ; xref: UNIPROTKB/SWISSPROT:Q9UPM8 ; xref: HGNC:573 ; xref: OMIM:607244 ; xref: GENATLAS:AP4E1 ; xref: ENSEMBL:ENSG00000081014 ; xref: REACTOME:Q9UPM8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763
Gene [OrphaNum:270052 ; Name:adaptor-related protein complex 4, sigma 1 subunit ; Symbol:AP4S1 ; xref: HGNC:575 ; xref: OMIM:607243 ; xref: GENATLAS:AP4S1 ; xref: UNIPROTKB/SWISSPROT:Q9Y587 ; xref: ENSEMBL:ENSG00000100478]
Gene [OrphaNum:270048 ; Name:adaptor-related protein complex 4, beta 1 subunit ; Symbol:AP4B1 ; xref: ENSEMBL:ENSG00000134262 ; xref: REACTOME:Q9Y6B7 ; xref: HGNC:572 ; xref: OMIM:607245 ; xref: GENATLAS:AP4B1 ; xref: UNIPROTKB/SWISSPROT:Q9Y6B7]
Gene [OrphaNum:212921 ; Name:Adaptor-related protein complex 4, mu 1 subunit ; Symbol:AP4M1 ; xref: ENSEMBL:ENSG00000221838 ; xref: GENATLAS:AP4M1 ; xref: HGNC:574 ; xref: OMIM:602296 ; xref: UNIPROTKB/SWISSPROT:O00189]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337
Gene [OrphaNum:117759 ; Name:Activin A receptor, type I ; Symbol:ACVR1 ; xref: GENATLAS:ACVR1 ; xref: HGNC:171 ; xref: OMIM:102576 ; xref: UNIPROTKB/SWISSPROT:Q04771 ; xref: ENSEMBL:ENSG00000115170]
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Hirschsprung disease - type D brachydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150
Intralobar congenital pulmonary sequestration
Intralobar congenital bronchopulmonary sequestration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802
Extralobar congenital pulmonary sequestration
Extralobar congenital bronchopulmonary sequestration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811
Communicating congenital bronchopulmonary-foregut malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821
Congenital pulmonary airway malformation, type 0
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827
Congenital pulmonary airway malformation, type 1
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832
Congenital pulmonary airway malformation, type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840
Congenital pulmonary airway malformation, type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847
Hirschsprung disease - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152
Congenital pulmonary airway malformation, type 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854
Hirschsprung disease - nail hypoplasia - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281082
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281085
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090
Autosomal recessive congenital ichthyosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281103
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal;
Gene [OrphaNum:122891 ; Name:Keratin 10 ; Symbol:KRT10 ; xref: GENATLAS:KRT10 ; xref: HGNC:6413 ; xref: OMIM:148080 ; xref: UNIPROTKB/SWISSPROT:P13645 ; xref: ENSEMBL:ENSG00000186395]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139
Erythrokeratodermia variabilis, Kamouraska type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281183
Congenital reticular ichthyosiform erythroderma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190
Keratosis linearis - ichthyosis congenita - sclerosing keratoderma
Gene [OrphaNum:281391 ; Name:Proteasome maturation protein ; Symbol:POMP ; xref: ENSEMBL:ENSG00000132963 ; xref: HGNC:20330 ; xref: OMIM:613386 ; xref: GENATLAS:POMP ; xref: UNIPROTKB/SWISSPROT:Q9Y244]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281210
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281217
Autosomal ichthyosis syndrome with prominent hair abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281222
Congenital ichthyosis with trichothiodystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281234
Autosomal ichthyosis syndrome with prominent neurologics signs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281238
Autosomal ichthyosis syndrome with fatal disease course
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281241
Hirschsprung disease - deafness - polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155
Autosomal ichthyosis syndrome with other associated signs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281244
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282124
Hirsutism - skeletal dysplasia - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2156
Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139
Gene [OrphaNum:284146 ; Name:Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) ; Symbol:B3GAT3 ; xref: ENSEMBL:ENSG00000149541 ; xref: HGNC:923 ; xref: OMIM:606374 ; xref: GENATLAS:B3GAT3 ; xref: UNIPROTKB/SWISSPROT:O94766]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149
Gene [OrphaNum:284155 ; Name:Interleukin 11 receptor, alpha ; Symbol:IL11RA ; xref: ENSEMBL:ENSG00000137070 ; xref: HGNC:5967 ; xref: OMIM:600939 ; xref: GENATLAS:IL11RA ; xref: UNIPROTKB/SWISSPROT:Q14626]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232
Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
Gene [OrphaNum:284258 ; Name:Insulin-like growth factor binding protein 7 ; Symbol:IGFBP7 ; xref: ENSEMBL:ENSG00000163453 ; xref: HGNC:5476 ; xref: OMIM:602867 ; xref: GENATLAS:IGFBP7 ; xref: UNIPROTKB/SWISSPROT:Q16270]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive spinocerebellar ataxia-12
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282
Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia-10
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289
Gene [OrphaNum:284296 ; Name:Anoctamin 10 ; Symbol:ANO10 ; xref: HGNC:25519 ; xref: OMIM:613726 ; xref: GENATLAS:ANO10 ; xref: UNIPROTKB/SWISSPROT:Q9NW15 ; xref: ENSEMBL:ENSG00000160746]
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive spinocerebellar ataxia-7
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia-6
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332
Gene [OrphaNum:242915 ; Name:Cas-Br-M (murine) ecotropic retroviral transforming sequence ; Symbol:CBL ; xref: GENATLAS:CBL ; xref: HGNC:1541 ; xref: ENSEMBL:ENSG00000110395 ; xref: REACTOME:P22681 ; xref: OMIM:165360 ; xref: UNIPROTKB/SWISSPROT:P22681]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Gene [OrphaNum:221346 ; Name:Neuroblastoma RAS viral (v-ras) oncogene homolog ; Symbol:NRAS ; xref: ENSEMBL:ENSG00000213281 ; xref: REACTOME:P01111 ; xref: GENATLAS:NRAS ; xref: HGNC:7989 ; xref: OMIM:164790 ; xref: UNIPROTKB/SWISSPROT:P01111]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284385
Gene [OrphaNum:122149 ; Name:Glycerol kinase ; Symbol:GK ; xref: GENATLAS:GK ; xref: HGNC:4289 ; xref: OMIM:300474 ; xref: UNIPROTKB/SWISSPROT:P32189 ; xref: ENSEMBL:ENSG00000198814 ; xref: REACTOME:P32189]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284408
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414
Phosphoserine aminotransferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417
Gene [OrphaNum:159912 ; Name:Phosphoserine aminotransferase 1 ; Symbol:PSAT1 ; xref: GENATLAS:PSAT1 ; xref: HGNC:19129 ; xref: OMIM:610936 ; xref: UNIPROTKB/SWISSPROT:Q9Y617 ; xref: REACTOME:Q9Y617 ; xref: ENSEMBL:ENSG00000135069]
Holoprosencephaly - postaxial polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166
Lactate dehydrogenase M-subunit deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426
Gene [OrphaNum:123015 ; Name:Lactate dehydrogenase A ; Symbol:LDHA ; xref: GENATLAS:LDHA ; xref: HGNC:6535 ; xref: OMIM:150000 ; xref: UNIPROTKB/SWISSPROT:P00338 ; xref: ENSEMBL:ENSG00000134333 ; xref: REACTOME:P00338]
Lactate dehydrogenase H-subunit deficiency
Gene [OrphaNum:123017 ; Name:Lactate dehydrogenase B ; Symbol:LDHB ; xref: GENATLAS:LDHB ; xref: HGNC:6541 ; xref: OMIM:150100 ; xref: UNIPROTKB/SWISSPROT:P07195 ; xref: ENSEMBL:ENSG00000111716 ; xref: REACTOME:P07195]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284818
Oculocutaneous albinism due to disorder of tyrosin metabolism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284823
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973
Homocystinuria due to defect in methylation type cblE
Gene [OrphaNum:123574 ; Name:5-methyltetrahydrofolate-homocysteine methyltransferase reductase ; Symbol:MTRR ; xref: GENATLAS:MTRR ; xref: HGNC:7473 ; xref: OMIM:602568 ; xref: UNIPROTKB/SWISSPROT:Q9UBK8 ; xref: ENSEMBL:ENSG00000124275]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979
Loeys-Dietz syndrome with osteoarthritis
Gene [OrphaNum:260331 ; Name:SMAD family member 3 ; Symbol:SMAD3 ; xref: ENSEMBL:ENSG00000166949 ; xref: HGNC:6769 ; xref: OMIM:603109 ; xref: GENATLAS:SMAD3 ; xref: UNIPROTKB/SWISSPROT:P84022 ; xref: REACTOME:P84022]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284993
Familial thoracic aneurysm and dissection
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285014
Microcephaly - glomerulonephritis - marfanoid habitus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285657
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377
prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180
Hypocalcemic vitamin D dependent rickets
Gene [OrphaNum:120994 ; Name:Cytochrome P450, family 27, subfamily B, polypeptide 1 ; Symbol:CYP27B1 ; xref: GENATLAS:CYP27B1 ; xref: HGNC:2606 ; xref: OMIM:609506 ; xref: UNIPROTKB/SWISSPROT:O15528 ; xref: REACTOME:O15528 ; xref: ENSEMBL:ENSG00000111012]
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:121000 ; Name:Cytochrome P450, family 2, subfamily R, polypeptide 1 ; Symbol:CYP2R1 ; xref: GENATLAS:CYP2R1 ; xref: HGNC:20580 ; xref: OMIM:608713 ; xref: UNIPROTKB/SWISSPROT:Q6VVX0 ; xref: REACTOME:Q6VVX0 ; xref: ENSEMBL:ENSG00000186104]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157
Autosomal recessive hypophosphatemic rickets
prevalence- No data available; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176
Gene [OrphaNum:121129 ; Name:Dentin matrix acidic phosphoprotein ; Symbol:DMP1 ; xref: GENATLAS:DMP1 ; xref: HGNC:2932 ; xref: OMIM:600980 ; xref: UNIPROTKB/SWISSPROT:Q13316 ; xref: ENSEMBL:ENSG00000152592]
Benign adult familial myoclonic epilepsy type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289251
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
Gene [OrphaNum:289276 ; Name:Glutamate receptor, ionotropic, N-methyl D-aspartate 2A ; Symbol:GRIN2A ; xref: HGNC:4585 ; xref: OMIM:138253 ; xref: GENATLAS:GRIN2A ; xref: UNIPROTKB/SWISSPROT:Q12879 ; xref: ENSEMBL:ENSG00000183454 ; xref: REACTOME:Q12879]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Hypermethioninemia encephalopathy due to ADK deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290
Gene [OrphaNum:289298 ; Name:Adenosine kinase ; Symbol:ADK ; xref: HGNC:257 ; xref: OMIM:102750 ; xref: GENATLAS:ADK ; xref: UNIPROTKB/SWISSPROT:P55263 ; xref: ENSEMBL:ENSG00000156110 ; xref: REACTOME:P55263]
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Developmental delay due to ALDH6A1 deficiency
Developmental delay due to MMSDH deficiency
Gene [OrphaNum:289319 ; Name:Aldehyde dehydrogenase 6 family, member A1 ; Symbol:ALDH6A1 ; xref: HGNC:7179 ; xref: OMIM:603178 ; xref: GENATLAS:ALDH6A1 ; xref: UNIPROTKB/SWISSPROT:Q02252 ; xref: ENSEMBL:ENSG00000119711 ; xref: REACTOME:Q02252]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307
Hydrocephaly - tall stature - joint laxity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365
Gene [OrphaNum:289375 ; Name:SRY (sex determining region Y)-box 17 ; Symbol:SOX17 ; xref: HGNC:18122 ; xref: OMIM:610928 ; xref: GENATLAS:SOX17 ; xref: UNIPROTKB/SWISSPROT:Q9H6I2 ; xref: ENSEMBL:ENSG00000164736]
Gene [OrphaNum:289371 ; Name:Roundabout, axon guidance receptor, homolog 2 (Drosophila) ; Symbol:ROBO2 ; xref: ENSEMBL:ENSG00000185008 ; xref: HGNC:10250 ; xref: OMIM:602431 ; xref: GENATLAS:ROBO2 ; xref: UNIPROTKB/SWISSPROT:Q9HCK4 ; xref: REACTOME:Q9HCK4]
Early-onset myopathy with fatal cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380
Hydrocephalus - blue sclerae - nephropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465
Gene [OrphaNum:289472 ; Name:SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ; Symbol:SMARCAD1 ; xref: HGNC:18398 ; xref: OMIM:612761 ; xref: GENATLAS:SMARCAD1 ; xref: UNIPROTKB/SWISSPROT:Q9H4L7 ; xref: ENSEMBL:ENSG00000163104]
Intellectual deficit - alacrima - achalasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494
Congenital cataract microcornea with corneal opacity
Gene [OrphaNum:298500 ; Name:Atonal homolog 7 (Drosophila) ; Symbol:ATOH7 ; xref: HGNC:13907 ; xref: OMIM:609875 ; xref: GENATLAS:ATOH7 ; xref: UNIPROTKB/SWISSPROT:Q8N100]
Gene [OrphaNum:285089 ; Name:Peroxidasin homolog (Drosophila) ; Symbol:PXDN ; xref: UNIPROTKB/SWISSPROT:Q92626 ; xref: HGNC:14966 ; xref: GENATLAS:PXDN ; xref: OMIM:605158 ; xref: ENSEMBL:ENSG00000130508]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499
Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic aciduria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504
Gene [OrphaNum:289511 ; Name:Acyl-CoA synthetase family member 3 ; Symbol:ACSF3 ; xref: HGNC:27288 ; xref: OMIM:614245 ; xref: GENATLAS:ACSF3 ; xref: UNIPROTKB/SWISSPROT:Q4G176 ; xref: ENSEMBL:ENSG00000176715]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Fatal infantile HCM due to mitochondrial complex I deficiency
Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency
Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency
Gene [OrphaNum:289535 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 ; Symbol:NDUFAF1 ; xref: ENSEMBL:ENSG00000137806 ; xref: HGNC:18828 ; xref: OMIM:606934 ; xref: GENATLAS:NDUFAF1 ; xref: UNIPROTKB/SWISSPROT:Q9Y375]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289527
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant;
BAP1-related tumor predisposition syndrome
Tumor susceptibility linked to germline BAP1 mutations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539
Gene [OrphaNum:289543 ; Name:BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) ; Symbol:BAP1 ; xref: HGNC:950 ; xref: OMIM:603089 ; xref: GENATLAS:BAP1 ; xref: UNIPROTKB/SWISSPROT:Q92560 ; xref: ENSEMBL:ENSG00000163930]
Inherited isolated adrenal insufficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548
Dysmorphism - conductive hearing loss - heart defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Mitochondrial membrane protein associated neurodegeneration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560
Gene [OrphaNum:289569 ; Name:Chromosome 19 open reading frame 12 ; Symbol:C19ORF12 ; xref: HGNC:25443 ; xref: OMIM:614297 ; xref: GENATLAS:C19orf12 ; xref: UNIPROTKB/SWISSPROT:Q9NSK7 ; xref: ENSEMBL:ENSG00000131943]
Fatal multiple mitochondrial dysfunction syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573
Gene [OrphaNum:289583 ; Name:BolA homolog 3 (E. coli) ; Symbol:BOLA3 ; xref: HGNC:24415 ; xref: OMIM:613183 ; xref: GENATLAS:BOLA3 ; xref: UNIPROTKB/SWISSPROT:Q53S33 ; xref: ENSEMBL:ENSG00000163170]
Gene [OrphaNum:289576 ; Name:NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) ; Symbol:NFU1 ; xref: ENSEMBL:ENSG00000169599 ; xref: HGNC:16287 ; xref: OMIM:608100 ; xref: GENATLAS:NFU1 ; xref: UNIPROTKB/SWISSPROT:Q9UMS0]
Autosomal recessive exfoliative ichthyosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586
Gene [OrphaNum:289589 ; Name:Cystatin A (stefin A) ; Symbol:CSTA ; xref: HGNC:2481 ; xref: OMIM:184600 ; xref: GENATLAS:CSTA ; xref: UNIPROTKB/SWISSPROT:P01040 ; xref: ENSEMBL:ENSG00000121552]
Hereditary arterial and articular multiple calcification syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289601
Gene [OrphaNum:289604 ; Name:5'-nucleotidase, ecto (CD73) ; Symbol:NT5E ; xref: HGNC:8021 ; xref: OMIM:129190 ; xref: GENATLAS:NT5E ; xref: UNIPROTKB/SWISSPROT:P21589 ; xref: ENSEMBL:ENSG00000135318 ; xref: REACTOME:P21589]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189
Gene [OrphaNum:122562 ; Name:Hydrolethalus syndrome 1 ; Symbol:HYLS1 ; xref: GENATLAS:HYLS1 ; xref: HGNC:26558 ; xref: OMIM:610693 ; xref: UNIPROTKB/SWISSPROT:Q96M11 ; xref: ENSEMBL:ENSG00000198331]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2190
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289825
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289829
Disorder of lysine and hydroxylysine metabolism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289832
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289841
Glutathione synthetase deficiency with 5-oxoprolinuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846
Glutathione synthetase deficiency without 5-oxoprolinuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289866
Hypermethioninemia due to glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT deficiency
Gene [OrphaNum:289897 ; Name:Glycine N-methyltransferase ; Symbol:GNMT ; xref: HGNC:4415 ; xref: OMIM:606628 ; xref: GENATLAS:GNMT ; xref: UNIPROTKB/SWISSPROT:Q14749 ; xref: ENSEMBL:ENSG00000124713]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289899
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289902
Complete deficiency of methylmalonyl-CoA mutase
Complete methylmalonyl-CoA epimerase deficiency
Complete methylmalonyl-CoA racemase deficiency
Vitamin B12 unresponsive methylmalonic acidemia type mut 0
Vitamin B12 unresponsive methylmalonic aciduria type mut 0
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement
Hypercalciuria - bilateral macular coloboma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196
Gene [OrphaNum:120628 ; Name:Claudin 19 ; Symbol:CLDN19 ; xref: GENATLAS:CLDN19 ; xref: HGNC:2040 ; xref: OMIM:610036 ; xref: UNIPROTKB/SWISSPROT:Q8N6F1 ; xref: ENSEMBL:ENSG00000164007 ; xref: REACTOME:Q8N6F1]
Autoinflammatory syndrome with immune deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290839
Congenital bullous ichthyosiform erythroderma
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312
Keratosis palmoplantaris - esophageal carcinoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198
Gene [OrphaNum:292385 ; Name:Rhomboid 5 homolog 2 (Drosophila) ; Symbol:RHBDF2 ; xref: HGNC:20788 ; xref: OMIM:614404 ; xref: GENATLAS:RHBDF2 ; xref: UNIPROTKB/SWISSPROT:Q6PJF5]
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Keratoderma palmoplantaris transgrediens et progrediens
Keratosis extremitatum hereditaria progrediens
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495
Localized epidermolytic palmoplantar hyperkeratosis
Epidermolytic palmoplantar keratoderma, Vörner type
Localized acanthokeratolytic palmoplantar hyperkeratosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199
Gene [OrphaNum:122945 ; Name:Keratin 9 (epidermolytic palmoplantar keratoderma) ; Symbol:KRT9 ; xref: OMIM:607606 ; xref: UNIPROTKB/SWISSPROT:P35527 ; xref: GENATLAS:KRT9 ; xref: HGNC:6447 ; xref: ENSEMBL:ENSG00000171403]
Palmoplantar keratosis, focal and gingival
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200
Familial clubfoot due to 5q31 microdeletion
Hereditary clubfoot due to 5q31 microdeletion
Gene [OrphaNum:201502 ; Name:Paired-like homeodomain 1 ; Symbol:PITX1 ; xref: ENSEMBL:ENSG00000069011 ; xref: GENATLAS:PITX1 ; xref: HGNC:9004 ; xref: OMIM:602149 ; xref: UNIPROTKB/SWISSPROT:P78337]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144
Familial clubfoot due to PITX1 point mutation
Hereditary clubfoot due to PITX1 point mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165
Infantile-onset ascending hereditary spastic paralysis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168
Palmoplantar keratoderma - spastic paralysis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201
Malignant migrating partial seizures of infancy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
BH4-responsive hyperphenylalaninemia/phenylketonuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284
Palmoplantar hyperkeratosis - hearing loss
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202
Methylmalonic acidemia without homocystinuria
Methylmalonic aciduria without homocystinuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462
Congenital hereditary endothelial dystrophy II
Autosomal recessive congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 2
Infantile hereditary endothelial dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621
Pyrroline-5-carboxylate reductase 1 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633
Blepharophimosis-intellectual deficit syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642
Blepharophimosis-intellectual deficit syndrome, MKB type
Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707
Blepharophimosis-intellectual deficit syndrome, Verloes type
Blepharophimosis-intellectual deficit syndrome type V
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725
Ankylosing vertebral hyperostosis with tylosis
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822
Congenital dyserythropoietic anemia due to KLF1 mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293830
Fatal infantile encephalopathy-pulmonary hypertension syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293838
Gene [OrphaNum:252117 ; Name:Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) ; Symbol:MASP1 ; xref: ENSEMBL:ENSG00000127241 ; xref: REACTOME:P48740 ; xref: GENATLAS:MASP1 ; xref: HGNC:6901 ; xref: UNIPROTKB/SWISSPROT:P48740 ; xref: OMIM:600521]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843
Gene [OrphaNum:260599 ; Name:Collectin sub-family member 11 ; Symbol:COLEC11 ; xref: ENSEMBL:ENSG00000118004 ; xref: HGNC:17213 ; xref: OMIM:612502 ; xref: GENATLAS:COLEC11 ; xref: UNIPROTKB/SWISSPROT:Q9BWP8]
Frontotemporal dementia, right temporal atrophy variant
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293848
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864
Gene [OrphaNum:299156 ; Name:Regulatory factor X, 6 ; Symbol:RFX6 ; xref: HGNC:21478 ; xref: OMIM:612659 ; xref: GENATLAS:RFX6 ; xref: UNIPROTKB/SWISSPROT:Q8HWS3]
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
Gene [OrphaNum:120054 ; Name:Transforming growth factor, beta 3 ; Symbol:TGFB3 ; xref: GENATLAS:TGFB3 ; xref: HGNC:11769 ; xref: OMIM:190230 ; xref: UNIPROTKB/SWISSPROT:P10600 ; xref: REACTOME:P10600 ; xref: ENSEMBL:ENSG00000119699]
Gene [OrphaNum:121193 ; Name:Desmoglein 2 ; Symbol:DSG2 ; xref: GENATLAS:DSG2 ; xref: HGNC:3049 ; xref: OMIM:125671 ; xref: UNIPROTKB/SWISSPROT:Q14126 ; xref: REACTOME:Q14126 ; xref: ENSEMBL:ENSG00000046604]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888
Gene [OrphaNum:118443 ; Name:Ryanodine receptor 2 (cardiac) ; Symbol:RYR2 ; xref: GENATLAS:RYR2 ; xref: HGNC:10484 ; xref: OMIM:180902 ; xref: UNIPROTKB/SWISSPROT:Q92736 ; xref: ENSEMBL:ENSG00000198626]
Gene [OrphaNum:121185 ; Name:Desmocollin 2 ; Symbol:DSC2 ; xref: GENATLAS:DSC2 ; xref: HGNC:3036 ; xref: OMIM:125645 ; xref: UNIPROTKB/SWISSPROT:Q02487 ; xref: ENSEMBL:ENSG00000134755]
Gene [OrphaNum:117871 ; Name:Plakophilin 2 ; Symbol:PKP2 ; xref: GENATLAS:PKP2 ; xref: HGNC:9024 ; xref: OMIM:602861 ; xref: UNIPROTKB/SWISSPROT:Q99959 ; xref: ENSEMBL:ENSG00000057294]
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia, classic form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910
Lethal occipital encephalocele-skeletal dysplasia syndrome
Gene [OrphaNum:299166 ; Name:Cytochrome P450, family 26, subfamily B, polypeptide 1 ; Symbol:CYP26B1 ; xref: HGNC:20581 ; xref: OMIM:605207 ; xref: GENATLAS:CYP26B1 ; xref: UNIPROTKB/SWISSPROT:Q9NR63]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925
Hypertelorism - hypospadias - polysyndactyly syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211
Gene [OrphaNum:299169 ; Name:MicroRNA 184 ; Symbol:MIR184 ; xref: HGNC:31555 ; xref: OMIM:613146 ; xref: GENATLAS:MIR184]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Gene [OrphaNum:299186 ; Name:Thiamin pyrophosphokinase 1 ; Symbol:TPK1 ; xref: HGNC:17358 ; xref: OMIM:606370 ; xref: GENATLAS:TPK1 ; xref: UNIPROTKB/SWISSPROT:Q9H3S4]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987
Microcephaly-capillary malformation syndrome
Microcephaly-cutaneous capillary malformation syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016
Neonatal inflammatory skin and bowel disease
Gene [OrphaNum:299456 ; Name:ADAM metallopeptidase domain 17 ; Symbol:ADAM17 ; xref: GENATLAS:ADAM17 ; xref: HGNC:195 ; xref: OMIM:603639 ; xref: UNIPROTKB/SWISSPROT:P78536]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294049
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294060
Gene [OrphaNum:123878 ; Name:Nephronophthisis 3 (adolescent) ; Symbol:NPHP3 ; xref: GENATLAS:NPHP3 ; xref: HGNC:7907 ; xref: OMIM:608002 ; xref: UNIPROTKB/SWISSPROT:Q7Z494 ; xref: ENSEMBL:ENSG00000113971]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415
Hypertelorism-microtia-facial clefting syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294929
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294931
Split hand or/and split foot malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294935
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294937
Malignant hyperthermia - arthrogryposis - torticollis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294939
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294942
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294944
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294947
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294951
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294953
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955
Combined reduction defects of upper and lower limbs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957
Syndromes with limb duplication, polydactyly, syndactyly and/or triphalangism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959
Maternal hyperthermia induced birth defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294961
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294965
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973
Congenital absence of upper arm and forearm with hand present
Humeroradioulnar intercalary transverse meromelia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975
Congenital absence of thigh and lower leg with foot present
Femorotibiofibular intercalary transverse meromelia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977
Congenital absence of both forearm and hand
Radioulnar terminal transverse meromelia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979
Congenital absence of both lower leg and foot
Tibiofibular terminal transverse meromelia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988
Congenital absence/hypoplasia of fingers excluding thumb
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294990
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294992
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294994
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294996
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294998
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000
Cervical hypertrichosis - peripheral neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295006
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295008
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295010
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012
Familial isolated clinodactyly of fingers
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295014
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295016
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020
Congenital pseudoarthrosis of the fibula
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022
Congenital pseudoarthrosis of the radius
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295030
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295032
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295034
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295036
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295038
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295041
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295044
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295047
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295049
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295051
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295053
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295055
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295057
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295059
Humeral intercalary meromelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295061
Humeral intercalary meromelia, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295063
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222
Femoral intercalary meromelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295065
Femoral intercalary meromelia, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295067
Radial longitidinal meromelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295069
Radial longitidinal meromelia, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295071
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295073
Ulnar longitudinal meromelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295075
Tibial longitudinal meomelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295077
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295079
Fibular longitudinal meomelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295081
Fibular longitudinal meomelia, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295083
Congenital absence of upper arm and forearm with hand present, unilateral
Humeroradioulnar intercalary transverse meromelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295085
Congenital absence of upper arm and forearm with hand present, bilateral
Humeroradioulnar intercalary transverse meromelia, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295087
Congenital absence of thigh and lower leg with foot present, unilateral
Femorotibiofibular intercalary transverse meromelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295089
Congenital absence of thigh and lower leg with foot present, bilateral
Femorotibiofibular intercalary transverse meromelia, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295091
Congenital absence of both forearm and hand, unilateral
Radioulnar terminal transverse meromelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295093
Congenital absence of both forearm and hand, bilateral
Radioulnar terminal transverse meromelia, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295095
Congenital absence of both lower leg and foot, unilateral
Tibiofibular terminal transverse meromelia, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295097
Congenital absence of both lower leg and foot, bilateral
Tibiofibular terminal transverse meromelia, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295099
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295101
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295103
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Any age; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447
Gene [OrphaNum:231527 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class A ; Symbol:PIGA ; xref: OMIM:311770 ; xref: ENSEMBL:ENSG00000165195 ; xref: REACTOME:P37287 ; xref: GENATLAS:PIGA ; xref: HGNC:8957 ; xref: UNIPROTKB/SWISSPROT:P37287]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295105
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295107
Congenital absence/hypoplasia of thumb, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295110
Congenital absence/hypoplasia of thumb, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295112
Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295114
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295116
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295118
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295120
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295122
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295124
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295126
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295128
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295130
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295132
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295134
Symbrachydactyly of hand and foot, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295136
Symbrachydactyly of hand and foot, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295138
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295140
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295142
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295144
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295146
Polydactyly of a triphalangeal thumb, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295148
Polydactyly of a triphalangeal thumb, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295150
Polydactyly of an index finger, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295152
Polydactyly of an index finger, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295154
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295159
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295161
Postaxial polydactyly type A, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295163
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295165
Postaxial polydactyly type B, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295167
Corneal anesthesia - deafness - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295169
Central polydactyly of fingers, unilateral
Mesoaxial polydactyly of fingers, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295171
Central polydactyly of fingers, bilateral
Mesoaxial polydactyly of fingers, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295173
Preaxial polydactyly of toes, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295175
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295177
Postaxial polydactyly of toes, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295179
Postaxial polydactyly of toes, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295181
Mesoaxial polydactyly of toes, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295183
Mesoaxial polydactyly of toes, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295185
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195
Gene [OrphaNum:139855 ; Name:Fibulin 1 ; Symbol:FBLN1 ; xref: GENATLAS:FBLN1 ; xref: HGNC:3600 ; xref: OMIM:135820 ; xref: UNIPROTKB/SWISSPROT:P23142 ; xref: ENSEMBL:ENSG00000077942]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201
Gene [OrphaNum:189174 ; Name:Homeobox D10 ; Symbol:HOXD10 ; xref: UNIPROTKB/SWISSPROT:P28358 ; xref: GENATLAS:HOXD10 ; xref: HGNC:5133 ; xref: OMIM:142984 ; xref: ENSEMBL:ENSG00000128710]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203
Humero-radio-ulnar synostosis, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295205
Humero-radio-ulnar synostosis, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295207
Hypogonadotropic hypogonadism - frontoparietal alopecia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295209
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295211
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295213
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295215
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295217
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295219
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295221
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295223
Congenital elbow dislocation, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295225
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295227
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295229
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295232
Congenital patella dislocation, unilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295234
Congenital patella dislocation, bilateral
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295237
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295241
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295245
Primary hypergonadotropic hypogonadism - partial alopecia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644
Hypogonadotropic hypogonadism - retinitis pigmentosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681
Gene [OrphaNum:122773 ; Name:Potassium voltage-gated channel, Isk-related family, member 3 ; Symbol:KCNE3 ; xref: GENATLAS:KCNE3 ; xref: HGNC:6243 ; xref: OMIM:604433 ; xref: UNIPROTKB/SWISSPROT:Q9Y6H6 ; xref: ENSEMBL:ENSG00000175538]
Hypoparathyroidism - deafness - renal disease
Gene [OrphaNum:122033 ; Name:GATA binding protein 3 ; Symbol:GATA3 ; xref: GENATLAS:GATA3 ; xref: HGNC:4172 ; xref: OMIM:131320 ; xref: UNIPROTKB/SWISSPROT:P23771 ; xref: ENSEMBL:ENSG00000107485 ; xref: REACTOME:P23771]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
EDS with progressive kyphoscoliosis, myopathy, and deafness
EDS with progressive kyphoscoliosis, myopathy, and hearing loss
EDS, kyphoscoliotic and hearing loss type
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type
Gene [OrphaNum:304165 ; Name:FK506 binding protein 14, 22 kDa ; Symbol:FKBP14 ; xref: HGNC:18625 ; xref: OMIM:614505 ; xref: GENATLAS:FKBP14 ; xref: UNIPROTKB/SWISSPROT:Q9NWM8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Bone fragility-contractures-arterial rupture-deafness syndrome
Connective tissue disorder due to LH3 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284
Gene [OrphaNum:304172 ; Name:Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ; Symbol:PLOD3 ; xref: HGNC:9083 ; xref: OMIM:603066 ; xref: GENATLAS:PLOD3 ; xref: UNIPROTKB/SWISSPROT:O60568]
Infantile regressive hypertriglyceridemia and hepatosteatosis
Infantile regressive hypertriglyceridemia and fatty liver
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293
Gene [OrphaNum:303828 ; Name:Glycerol-3-phosphate dehydrogenase 1 (soluble) ; Symbol:GPD1 ; xref: HGNC:4455 ; xref: GENATLAS:GPD1 ; xref: OMIM:138420 ; xref: UNIPROTKB/SWISSPROT:P21695]
Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital hypochromic sideroblastic anemia with
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-deafness-severe developmental delay syndrome
Lethal neurodegenerative disorder due to copper transport defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Gene [OrphaNum:303011 ; Name:Leucine rich repeat and sterile alpha motif containing 1 ; Symbol:LRSAM1 ; xref: HGNC:25135 ; xref: OMIM:610933 ; xref: GENATLAS:LRSAM1 ; xref: UNIPROTKB/SWISSPROT:Q6UWE0]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333
Gene [OrphaNum:304247 ; Name:CD151 molecule (Raph blood group) ; Symbol:CD151 ; xref: HGNC:1630 ; xref: OMIM:602243 ; xref: GENATLAS:CD151 ; xref: UNIPROTKB/SWISSPROT:P48509]
Congenital blindness due to retinal nonattachment
: Non syndromic congenital retinal nonattachment
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300337
Autosomal recessive systemic lupus erythematosus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345
Gene [OrphaNum:291856 ; Name:Deoxyribonuclease I-like 3 ; Symbol:DNASE1L3 ; xref: OMIM:602244 ; xref: GENATLAS:DNASE1L3 ; xref: UNIPROTKB/SWISSPROT:Q13609 ; xref: HGNC:2959 ; xref: ENSEMBL:ENSG00000163687]
Familial atypical cold autoinflammatory syndrome
Familial cold urticarial with common variable immunodeficiency
Gene [OrphaNum:303819 ; Name:Phospholipase C, gamma 2 (phosphatidylinositol-specific) ; Symbol:PLCG2 ; xref: HGNC:9066 ; xref: OMIM:600220 ; xref: GENATLAS:PLCG2 ; xref: UNIPROTKB/SWISSPROT:P16885]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359
Infantile gigantism due to pituitary hyperplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373
Progeroid and marfanoid aspect-lipodystrophy syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239
Gene [OrphaNum:159623 ; Name:Glial cells missing homolog 2 (Drosophila) ; Symbol:GCM2 ; xref: GENATLAS:GCM2 ; xref: HGNC:4198 ; xref: OMIM:603716 ; xref: UNIPROTKB/SWISSPROT:O75603 ; xref: ENSEMBL:ENSG00000124827]
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525
Gene [OrphaNum:303801 ; Name:Kelch-like 3 (Drosophila) ; Symbol:KLHL3 ; xref: HGNC:6354 ; xref: OMIM:605775 ; xref: GENATLAS:KLHL3 ; xref: UNIPROTKB/SWISSPROT:Q9UH77]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530
Gene [OrphaNum:303805 ; Name:Cullin 3 ; Symbol:CUL3 ; xref: HGNC:2553 ; xref: OMIM:603136 ; xref: GENATLAS:CUL3 ; xref: UNIPROTKB/SWISSPROT:Q13618]
Carbohydrate deficient glycoprotein syndrome type IR
Congenital disorder of glycosylation type 1R
Congenital disorder of glycosylation type IR
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536
Gene [OrphaNum:303832 ; Name:Dolichyl-diphosphooligosaccharide--protein glycosyltransferase ; Symbol:DDOST ; xref: HGNC:2728 ; xref: GENATLAS:DDOST ; xref: OMIM:602202 ; xref: UNIPROTKB/SWISSPROT:P39656]
Autosomal recessive infantile hypercalcemia
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547
Gene [OrphaNum:279838 ; Name:Cytochrome P450, family 24, subfamily A, polypeptide 1 ; Symbol:CYP24A1 ; xref: REACTOME:Q07973 ; xref: ENSEMBL:ENSG00000019186 ; xref: HGNC:2602 ; xref: OMIM:126065 ; xref: GENATLAS:CYP24A1 ; xref: UNIPROTKB/SWISSPROT:Q07973]
Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570
Gene [OrphaNum:201538 ; Name:Tubulin, beta 2B ; Symbol:TUBB2B ; xref: ENSEMBL:ENSG00000137285 ; xref: HGNC:30829 ; xref: REACTOME:Q9BVA1 ; xref: OMIM:612850 ; xref: UNIPROTKB/SWISSPROT:Q9BVA1 ; xref: GENATLAS:TUBB2B]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573
Oligodontia - cancer predisposition syndrome
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300576
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300601
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249
Familial hyperkalemic periodic paralysis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252
Pancreatic hypoplasia - diabetes - heart disease
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255
Fibulo-ulnar hypoplasia - renal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257
Hypospadias - intellectual deficit, Goldblatt type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261
Gene [OrphaNum:158595 ; Name:Transcription factor 4 ; Symbol:TCF4 ; xref: REACTOME:P15884 ; xref: GENATLAS:TCF4 ; xref: HGNC:11634 ; xref: OMIM:602272 ; xref: UNIPROTKB/SWISSPROT:P15884 ; xref: ENSEMBL:ENSG00000196628]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Hypotrichosis-intellectual deficit, Lopes type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2267
Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269
Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
Lipidosis with triglyceride storage disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165
Congenital ichthyosis - microcephalus - quadriplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455
Gene [OrphaNum:122907 ; Name:Keratin 2 (epidermal ichthyosis bullosa of Siemens) ; Symbol:KRT2 ; xref: GENATLAS:KRT2 ; xref: HGNC:6439 ; xref: OMIM:600194 ; xref: UNIPROTKB/SWISSPROT:P35908 ; xref: ENSEMBL:ENSG00000172867]
Ichthyosis follicularis - alopecia - photophobia
Ichthyosis follicularis - atrichia - photophobia
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273
Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2277
Ichthyosis - intellectual deficit - dwarfism - renal impairment
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800
Dysmorphism - short stature - deafness - disorder of sex development
Dysmorphism - short stature - deafness - pseudohermaphroditism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285
Solitary median maxillary central incisor syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2286
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2287
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289
Gene [OrphaNum:171089 ; Name:Myosin VB ; Symbol:MYO5B ; xref: GENATLAS:MYO5B ; xref: HGNC:7603 ; xref: OMIM:606540 ; xref: UNIPROTKB/SWISSPROT:Q9ULV0 ; xref: REACTOME:Q9ULV0 ; xref: ENSEMBL:ENSG00000167306]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2292
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306
Gene [OrphaNum:122901 ; Name:Keratin 16 (focal non-epidermolytic palmoplantar keratoderma) ; Symbol:KRT16 ; xref: GENATLAS:KRT16 ; xref: HGNC:6423 ; xref: OMIM:148067 ; xref: UNIPROTKB/SWISSPROT:P08779 ; xref: ENSEMBL:ENSG00000186832]
Gene [OrphaNum:122917 ; Name:Keratin 6A ; Symbol:KRT6A ; xref: GENATLAS:KRT6A ; xref: HGNC:6443 ; xref: OMIM:148041 ; xref: UNIPROTKB/SWISSPROT:P02538 ; xref: ENSEMBL:ENSG00000205420]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309
Gene [OrphaNum:122925 ; Name:Keratin 6B ; Symbol:KRT6B ; xref: ENSEMBL:ENSG00000185479 ; xref: GENATLAS:KRT6B ; xref: HGNC:6444 ; xref: OMIM:148042 ; xref: UNIPROTKB/SWISSPROT:P04259]
Gene [OrphaNum:122904 ; Name:Keratin 17 ; Symbol:KRT17 ; xref: GENATLAS:KRT17 ; xref: HGNC:6427 ; xref: OMIM:148069 ; xref: UNIPROTKB/SWISSPROT:Q04695 ; xref: ENSEMBL:ENSG00000128422]
Gene [OrphaNum:120373 ; Name:Ubiquitin protein ligase E3 component n-recognin 1 ; Symbol:UBR1 ; xref: REACTOME:Q8IWV7 ; xref: GENATLAS:UBR1 ; xref: HGNC:16808 ; xref: OMIM:605981 ; xref: UNIPROTKB/SWISSPROT:Q8IWV7 ; xref: ENSEMBL:ENSG00000159459]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Alopecia - anosmia - deafness - hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316
Cleft lip/palate - abnormal thumbs - microcephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319
Gene [OrphaNum:290568 ; Name:Lysine (K)-specific demethylase 6A ; Symbol:KDM6A ; xref: HGNC:12637 ; xref: OMIM:300128 ; xref: GENATLAS:KDM6A ; xref: UNIPROTKB/SWISSPROT:O15550 ; xref: ENSEMBL:ENSG00000147050]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322
Gene [OrphaNum:239011 ; Name:Myeloid/lymphoid or mixed-lineage leukemia 2 ; Symbol:MLL2 ; xref: GENATLAS:MLL2 ; xref: HGNC:7133 ; xref: OMIM:602113 ; xref: UNIPROTKB/SWISSPROT:O14686 ; xref: ENSEMBL:ENSG00000167548]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Hypoparathyroidism - intellectual deficit - dysmorphism
Hypoparathyroidism - short stature - intellectual deficit - seizures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323
Osteopenia - intellectual deficit - sparse hair
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324
Gene [OrphaNum:118451 ; Name:Sal-like 1 (Drosophila) ; Symbol:SALL1 ; xref: GENATLAS:SALL1 ; xref: HGNC:10524 ; xref: OMIM:602218 ; xref: UNIPROTKB/SWISSPROT:Q9NSC2 ; xref: ENSEMBL:ENSG00000103449]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Epidermolysis bullosa simplex with anodontia/hypodontia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325
Congenital arthrogryposis - myopathic seizures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2327
Cleft lip/palate - facial, eye, heart and intestinal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329
Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333
Keratoderma - hypotrichosis - leukonychia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2336
Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type
Diffuse palmoplantar keratoderma, Botnie type
prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337
Hereditary punctate palmoplantar keratoderma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2338
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494
Keratosis follicularis - dwarfism - cerebral atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339
Keratosis follicularis spinulosa decalvans
prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive;
Gene [OrphaNum:118472 ; Name:Spermidine/spermine N1-acetyltransferase 1 ; Symbol:SAT1 ; xref: GENATLAS:SAT1 ; xref: HGNC:10540 ; xref: OMIM:313020 ; xref: UNIPROTKB/SWISSPROT:P21673 ; xref: ENSEMBL:ENSG00000130066 ; xref: REACTOME:P21673]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340
Keratosis palmoplantaris - periodontopathia - onychogryposis
Gene [OrphaNum:120892 ; Name:Cathepsin C ; Symbol:CTSC ; xref: GENATLAS:CTSC ; xref: HGNC:2528 ; xref: OMIM:602365 ; xref: UNIPROTKB/SWISSPROT:P53634 ; xref: ENSEMBL:ENSG00000109861]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487
Gene [OrphaNum:119757 ; Name:Snail homolog 2 (Drosophila) ; Symbol:SNAI2 ; xref: GENATLAS:SNAI2 ; xref: HGNC:11094 ; xref: OMIM:602150 ; xref: UNIPROTKB/SWISSPROT:O43623 ; xref: ENSEMBL:ENSG00000019549]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895
Familial partial lipodystrophy, Dunnigan type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348
Hypotelorism - cleft palate - hypospadias
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Waardenburg syndrome with limb anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371
Laryngeal abductor paralysis - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378
Gene [OrphaNum:123352 ; Name:mirror-image polydactyly 1 ; Symbol:MIPOL1 ; xref: GENATLAS:MIPOL1 ; xref: HGNC:21460 ; xref: OMIM:606850 ; xref: UNIPROTKB/SWISSPROT:Q8TD10 ; xref: ENSEMBL:ENSG00000151338]
Early-onset parkinsonism - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379
Leukoencephalopathy - palmoplantar keratoderma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386
Gene [OrphaNum:270352 ; Name:phospholipase C, delta 1 ; Symbol:PLCD1 ; xref: UNIPROTKB/SWISSPROT:P51178 ; xref: ENSEMBL:ENSG00000187091 ; xref: HGNC:9060 ; xref: OMIM:602142 ; xref: GENATLAS:PLCD1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387
Gene [OrphaNum:120472 ; Name:Vacuolar protein sorting 13 homolog A (S. cerevisiae) ; Symbol:VPS13A ; xref: GENATLAS:VPS13A ; xref: HGNC:1908 ; xref: OMIM:605978 ; xref: UNIPROTKB/SWISSPROT:Q96RL7 ; xref: ENSEMBL:ENSG00000197969]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396
Nasopalpebral lipoma - coloboma - telecanthus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399
Thickened earlobes - conductive deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405
Laryngeal and ocular granulation in Indian children
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407
Deafness - nephritis - ano-rectal malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409
Cystic fibrosis - gastritis - megaloblastic anemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575
Hypergonadotropic hypogonadism - cataract syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412
Macrocephaly - spastic paraplegia - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429
Gene [OrphaNum:124196 ; Name:Peroxisome biogenesis factor 13 ; Symbol:PEX13 ; xref: GENATLAS:PEX13 ; xref: HGNC:8855 ; xref: OMIM:601789 ; xref: UNIPROTKB/SWISSPROT:Q92968 ; xref: ENSEMBL:ENSG00000162928]
Gene [OrphaNum:124202 ; Name:Peroxisomal biogenesis factor 19 ; Symbol:PEX19 ; xref: GENATLAS:PEX19 ; xref: HGNC:9713 ; xref: OMIM:600279 ; xref: UNIPROTKB/SWISSPROT:P40855 ; xref: ENSEMBL:ENSG00000162735 ; xref: REACTOME:P40855]
Gene [OrphaNum:124198 ; Name:Peroxisomal biogenesis factor 14 ; Symbol:PEX14 ; xref: GENATLAS:PEX14 ; xref: HGNC:8856 ; xref: OMIM:601791 ; xref: UNIPROTKB/SWISSPROT:O75381 ; xref: ENSEMBL:ENSG00000142655]
Gene [OrphaNum:124194 ; Name:Peroxisomal biogenesis factor 12 ; Symbol:PEX12 ; xref: ENSEMBL:ENSG00000108733 ; xref: GENATLAS:PEX12 ; xref: HGNC:8854 ; xref: OMIM:601758 ; xref: UNIPROTKB/SWISSPROT:O00623]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912
Gene [OrphaNum:124209 ; Name:Peroxisomal biogenesis factor 3 ; Symbol:PEX3 ; xref: GENATLAS:PEX3 ; xref: HGNC:8858 ; xref: OMIM:603164 ; xref: UNIPROTKB/SWISSPROT:P56589 ; xref: REACTOME:P56589 ; xref: ENSEMBL:ENSG00000034693]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive;
Gene [OrphaNum:124215 ; Name:Peroxisomal biogenesis factor 6 ; Symbol:PEX6 ; xref: GENATLAS:PEX6 ; xref: HGNC:8859 ; xref: OMIM:601498 ; xref: UNIPROTKB/SWISSPROT:Q13608 ; xref: ENSEMBL:ENSG00000124587]
Gene [OrphaNum:122513 ; Name:Hydroxysteroid (17-beta) dehydrogenase 4 ; Symbol:HSD17B4 ; xref: GENATLAS:HSD17B4 ; xref: HGNC:5213 ; xref: OMIM:601860 ; xref: UNIPROTKB/SWISSPROT:P51659 ; xref: ENSEMBL:ENSG00000133835 ; xref: REACTOME:P51659]
Gene [OrphaNum:124189 ; Name:Peroxisome biogenesis factor 1 ; Symbol:PEX1 ; xref: GENATLAS:PEX1 ; xref: HGNC:8850 ; xref: OMIM:602136 ; xref: UNIPROTKB/SWISSPROT:O43933 ; xref: ENSEMBL:ENSG00000127980]
Gene [OrphaNum:124200 ; Name:Peroxisomal biogenesis factor 16 ; Symbol:PEX16 ; xref: GENATLAS:PEX16 ; xref: HGNC:8857 ; xref: OMIM:603360 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y5 ; xref: ENSEMBL:ENSG00000121680]
Gene [OrphaNum:124206 ; Name:Peroxisome biogenesis factor 26 ; Symbol:PEX26 ; xref: GENATLAS:PEX26 ; xref: HGNC:22965 ; xref: OMIM:608666 ; xref: UNIPROTKB/SWISSPROT:Q7Z412 ; xref: ENSEMBL:ENSG00000215193]
Gene [OrphaNum:124211 ; Name:Peroxisomal biogenesis factor 5 ; Symbol:PEX5 ; xref: GENATLAS:PEX5 ; xref: HGNC:9719 ; xref: OMIM:600414 ; xref: UNIPROTKB/SWISSPROT:P50542 ; xref: ENSEMBL:ENSG00000139197]
Gene [OrphaNum:118174 ; Name:Peroxisomal biogenesis factor 2 ; Symbol:PEX2 ; xref: GENATLAS:PXMP3 ; xref: HGNC:9717 ; xref: OMIM:170993 ; xref: UNIPROTKB/SWISSPROT:P28328 ; xref: ENSEMBL:ENSG00000164751]
Macrosomia - microphthalmia - cleft palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432
Alport syndrome with macrothrombocytopenia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1019
Hypomelanotic and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296
Split hand - urinary anomalies - spina bifida
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437
Gene [OrphaNum:122462 ; Name:Homeobox A13 ; Symbol:HOXA13 ; xref: GENATLAS:HOXA13 ; xref: HGNC:5102 ; xref: OMIM:142959 ; xref: UNIPROTKB/SWISSPROT:P31271 ; xref: ENSEMBL:ENSG00000106031]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438
Split foot deformity - mandibulofacial dysostosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439
Gene [OrphaNum:121770 ; Name:F-box and WD repeat domain containing 4 ; Symbol:FBXW4 ; xref: GENATLAS:FBXW4 ; xref: HGNC:10847 ; xref: OMIM:608071 ; xref: UNIPROTKB/SWISSPROT:P57775 ; xref: REACTOME:P57775 ; xref: ENSEMBL:ENSG00000107829]
Gene [OrphaNum:183933 ; Name:Wingless-type MMTV integration site family, member 10B ; Symbol:WNT10B ; xref: ENSEMBL:ENSG00000169884 ; xref: REACTOME:O00744 ; xref: GENATLAS:WNT10B ; xref: HGNC:12775 ; xref: OMIM:601906 ; xref: UNIPROTKB/SWISSPROT:O00744]
Gene [OrphaNum:138681 ; Name:Split hand/foot malformation (ectrodactyly) type 1 ; Symbol:SHFM1 ; xref: GENATLAS:SHFM1 ; xref: HGNC:10845 ; xref: OMIM:601285 ; xref: UNIPROTKB/SWISSPROT:P60896 ; xref: ENSEMBL:ENSG00000127922]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2449
Cutaneous and mucosal venous malformation
Gene [OrphaNum:120020 ; Name:TEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal) ; Symbol:TEK ; xref: GENATLAS:TEK ; xref: HGNC:11724 ; xref: OMIM:600221 ; xref: UNIPROTKB/SWISSPROT:Q02763 ; xref: ENSEMBL:ENSG00000120156 ; xref: REACTOME:Q02763]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451
Familial intestinal malrotation - facial anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2454
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2455
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462
Marfanoid habitus - intellectual deficit, autosomal recessive
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463
Gene [OrphaNum:118718 ; Name:SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) ; Symbol:SIL1 ; xref: GENATLAS:SIL1 ; xref: HGNC:24624 ; xref: OMIM:608005 ; xref: UNIPROTKB/SWISSPROT:Q9H173 ; xref: ENSEMBL:ENSG00000120725]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464
Accelerated skeletal maturation - peculiar facies - failure to thrive
Gene [OrphaNum:239888 ; Name:Nuclear factor I/X (CCAAT-binding transcription factor) ; Symbol:NFIX ; xref: GENATLAS:NFIX ; xref: HGNC:7788 ; xref: OMIM:164005 ; xref: UNIPROTKB/SWISSPROT:Q14938 ; xref: ENSEMBL:ENSG00000008441 ; xref: REACTOME:Q14938]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471
Hydrometrocolpos - postaxial polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473
Gene [OrphaNum:123245 ; Name:McKusick-Kaufman syndrome (Gen) ; Symbol:MKKS ; xref: GENATLAS:MKKS ; xref: HGNC:7108 ; xref: OMIM:604896 ; xref: UNIPROTKB/SWISSPROT:Q9NPJ1 ; xref: ENSEMBL:ENSG00000125863]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475
Dysraphism - cleft lip/palate - limb reduction defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476
Megalocornea-intellectual deficit syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485
Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
Gene [OrphaNum:119027 ; Name:Brain-derived neurotrophic factor ; Symbol:BDNF ; xref: GENATLAS:BDNF ; xref: HGNC:1033 ; xref: OMIM:113505 ; xref: UNIPROTKB/SWISSPROT:P23560 ; xref: ENSEMBL:ENSG00000176697]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487
Upper limb defect - eye and ear abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489
Mullerian duct anomalies - limb anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491
Limb transversal defect - cardiac anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496
Gene [OrphaNum:242331 ; Name:Sulfatase 1 ; Symbol:SULF1 ; xref: GENATLAS:SULF1 ; xref: HGNC:20391 ; xref: UNIPROTKB/SWISSPROT:Q8IWU6 ; xref: OMIM:610012 ; xref: ENSEMBL:ENSG00000137573]
Gene [OrphaNum:242335 ; Name:Solute carrier organic anion transporter family, member 5A1 ; Symbol:SLCO5A1 ; xref: ENSEMBL:ENSG00000137571 ; xref: HGNC:19046 ; xref: OMIM:613543 ; xref: UNIPROTKB/SWISSPROT:Q9H2Y9 ; xref: GENATLAS:SLCO5A1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500
Metaphyseal chondrodysplasia, Spahr type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501
Metaphyseal dysostosis - intellectual deficit - conductive deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504
Multiple benign circumferential skin creases on limbs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505
Micrencephaly - corpus callosum agenesis - abnormal genitalia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508
Gene [OrphaNum:268016 ; Name:RAB18, member RAS oncogene family ; Symbol:RAB18 ; xref: GENATLAS:RAB18 ; xref: ENSEMBL:ENSG00000099246 ; xref: HGNC:14244 ; xref: OMIM:602207 ; xref: UNIPROTKB/SWISSPROT:Q9NP72]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510
Gene [OrphaNum:118194 ; Name:RAB3 GTPase activating protein subunit 1 (catalytic) ; Symbol:RAB3GAP1 ; xref: GENATLAS:RAB3GAP1 ; xref: HGNC:17063 ; xref: OMIM:602536 ; xref: UNIPROTKB/SWISSPROT:Q15042 ; xref: ENSEMBL:ENSG00000115839]
RichieriCosta-GuionAlmeida-Ramos syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511
Microcephaly - albinism - digital anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515
Microcephaly - cardiac defect - lung malsegmentation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516
Autosomal recessive chorioretinopathy - microcephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518
Gene [OrphaNum:304005 ; Name:Tubulin, gamma complex associated protein 6 ; Symbol:TUBGCP6 ; xref: HGNC:18127 ; xref: OMIM:610053 ; xref: GENATLAS:TUBGCP6 ; xref: UNIPROTKB/SWISSPROT:Q96RT7]
Intestinal polyposis - cutaneous pigmentation syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869
Gene [OrphaNum:119884 ; Name:Serine/threonine kinase 11 ; Symbol:STK11 ; xref: GENATLAS:STK11 ; xref: HGNC:11389 ; xref: OMIM:602216 ; xref: UNIPROTKB/SWISSPROT:Q15831 ; xref: ENSEMBL:ENSG00000118046 ; xref: REACTOME:Q15831]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521
Microcephaly - cervical spine fusion anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522
Gene [OrphaNum:169410 ; Name:tRNA splicing endonuclease 2 homolog (S. cerevisiae) ; Symbol:TSEN2 ; xref: GENATLAS:TSEN2 ; xref: HGNC:28422 ; xref: OMIM:608753 ; xref: UNIPROTKB/SWISSPROT:Q8NCE0 ; xref: ENSEMBL:ENSG00000154743]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524
Gene [OrphaNum:169405 ; Name:tRNA splicing endonuclease 34 homolog (S. cerevisiae) ; Symbol:TSEN34 ; xref: ENSEMBL:ENSG00000170892 ; xref: GENATLAS:TSEN34 ; xref: HGNC:15506 ; xref: OMIM:608754 ; xref: UNIPROTKB/SWISSPROT:Q9BSV6]
Microcephaly - lymphedema - chorioretinopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526
Gene [OrphaNum:292401 ; Name:Kinesin family member 11 ; Symbol:KIF11 ; xref: HGNC:6388 ; xref: OMIM:148760 ; xref: GENATLAS:KIF11 ; xref: UNIPROTKB/SWISSPROT:P52732]
Microcephaly-microcornea syndrome, Seemanova type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710
Microcephaly - deafness - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533
Microcornea - corectopia - macular hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2535
Microcornea - glaucoma - absent frontal sinuses
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794
Gene [OrphaNum:159959 ; Name:Transmembrane protein 114 ; Symbol:TMEM114 ; xref: GENATLAS:TMEM114 ; xref: HGNC:33227 ; xref: OMIM:611579 ; xref: UNIPROTKB/SWISSPROT:B3SHH9 ; xref: ENSEMBL:ENSG00000232258]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2543
Oculoauriculovertebral spectrum with radial defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549
Microspherophakia - metaphyseal dysplasia
Verloes-Van Maldergem-de Marneffe syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551
Gene [OrphaNum:260335 ; Name:origin recognition complex, subunit 4 ; Symbol:ORC4 ; xref: REACTOME:O43929 ; xref: ENSEMBL:ENSG00000115947 ; xref: HGNC:8490 ; xref: OMIM:603056 ; xref: GENATLAS:ORC4 ; xref: UNIPROTKB/SWISSPROT:O43929]
Gene [OrphaNum:260341 ; Name:chromatin licensing and DNA replication factor 1 ; Symbol:CDT1 ; xref: REACTOME:Q9H211 ; xref: HGNC:24576 ; xref: OMIM:605525 ; xref: GENATLAS:CDT1 ; xref: UNIPROTKB/SWISSPROT:Q9H211 ; xref: ENSEMBL:ENSG00000167513]
Gene [OrphaNum:260345 ; Name:cell division cycle 6 homolog (S. cerevisiae) ; Symbol:CDC6 ; xref: REACTOME:Q99741 ; xref: ENSEMBL:ENSG00000094804 ; xref: HGNC:1744 ; xref: OMIM:602627 ; xref: GENATLAS:CDC6 ; xref: UNIPROTKB/SWISSPROT:Q99741]
Gene [OrphaNum:260588 ; Name:origin recognition complex, subunit 1 ; Symbol:ORC1 ; xref: REACTOME:Q13415 ; xref: ENSEMBL:ENSG00000085840 ; xref: HGNC:8487 ; xref: OMIM:601902 ; xref: GENATLAS:ORC1 ; xref: UNIPROTKB/SWISSPROT:Q13415]
Gene [OrphaNum:260339 ; Name:origin recognition complex, subunit 6 ; Symbol:ORC6 ; xref: ENSEMBL:ENSG00000091651 ; xref: REACTOME:Q9Y5N6 ; xref: HGNC:17151 ; xref: OMIM:607213 ; xref: GENATLAS:ORC6 ; xref: UNIPROTKB/SWISSPROT:Q9Y5N6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554
Microphthalmia - dermal aplasia - sclerocornea
Microphthalmia with linear skin defects syndrome
Microphthalmia, dermal aplasia, and sclerocornea
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556
Gene [OrphaNum:122378 ; Name:Holocytochrome c synthase (cytochrome c heme-lyase) ; Symbol:HCCS ; xref: GENATLAS:HCCS ; xref: HGNC:4837 ; xref: OMIM:300056 ; xref: UNIPROTKB/SWISSPROT:P53701 ; xref: ENSEMBL:ENSG00000004961]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774
Gene [OrphaNum:119727 ; Name:SMAD family member 4 ; Symbol:SMAD4 ; xref: GENATLAS:SMAD4 ; xref: HGNC:6770 ; xref: OMIM:600993 ; xref: UNIPROTKB/SWISSPROT:Q13485 ; xref: ENSEMBL:ENSG00000141646 ; xref: REACTOME:Q13485]
Gene [OrphaNum:121536 ; Name:Endoglin (Osler-Rendu-Weber syndrome 1) ; Symbol:ENG ; xref: GENATLAS:ENG ; xref: HGNC:3349 ; xref: OMIM:131195 ; xref: UNIPROTKB/SWISSPROT:P17813 ; xref: ENSEMBL:ENSG00000106991]
Intellectual deficit, Mietens-Weber type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557
Microcephaly - hypergonadotropic hypogonadism - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558
Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560
Pyramidal molar - glaucoma - upper abnormal lip
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561
Macrosomia - obesity - macrocephaly - ocular abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
Gene [OrphaNum:138472 ; Name:SIX homeobox 5 ; Symbol:SIX5 ; xref: GENATLAS:SIX5 ; xref: HGNC:10891 ; xref: OMIM:600963 ; xref: UNIPROTKB/SWISSPROT:Q8N196 ; xref: ENSEMBL:ENSG00000177045]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2571
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572
Gene [OrphaNum:260602 ; Name:ring finger protein 213 ; Symbol:RNF213 ; xref: ENSEMBL:ENSG00000173821 ; xref: HGNC:14539 ; xref: GENATLAS:RNF213 ; xref: UNIPROTKB/SWISSPROT:Q63HN8 ; xref: OMIM:613768]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Alopecia-epilepsy-oligophrenia syndrome, Moynahan type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575
Pericardial constriction - growth failure
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Elderly; Inheritance- Autosomal recessive;
Gene [OrphaNum:120289 ; Name:Tripartite motif-containing 37 ; Symbol:TRIM37 ; xref: GENATLAS:TRIM37 ; xref: HGNC:7523 ; xref: OMIM:605073 ; xref: UNIPROTKB/SWISSPROT:O94972 ; xref: ENSEMBL:ENSG00000108395 ; xref: REACTOME:O94972]
Klippel-Feil deformity - conductive deafness - absent vagina
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579
Blepharophimosis - epicanthus inversus - ptosis
blepharophimosis-ptosis-epicanthus inversus syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126
Shoulder and girdle defects - familial intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2580
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585
Facial dysmorphism - intellectual deficit - short stature - hearing loss
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588
Myoclonus - cerebellar ataxia - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589
Hereditary myoclonus - progressive distal muscular atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593
Myxoma - spotty pigmentation - endocrine overactivity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359
Gene [OrphaNum:123626 ; Name:Myosin, heavy chain 8, skeletal muscle, perinatal ; Symbol:MYH8 ; xref: GENATLAS:MYH8 ; xref: HGNC:7578 ; xref: OMIM:160741 ; xref: UNIPROTKB/SWISSPROT:P13535 ; xref: REACTOME:P13535 ; xref: ENSEMBL:ENSG00000133020]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613
Gene [OrphaNum:201543 ; Name:Obscurin-like 1 ; Symbol:OBSL1 ; xref: ENSEMBL:ENSG00000124006 ; xref: GENATLAS:OBSL1 ; xref: HGNC:29092 ; xref: OMIM:610991 ; xref: UNIPROTKB/SWISSPROT:O75147]
Gene [OrphaNum:270465 ; Name:coiled-coil domain containing 8 ; Symbol:CCDC8 ; xref: ENSEMBL:ENSG00000169515 ; xref: HGNC:25367 ; xref: OMIM:614145 ; xref: GENATLAS:CCDC8 ; xref: UNIPROTKB/SWISSPROT:Q9H0W5]
Gene [OrphaNum:120910 ; Name:Cullin 7 ; Symbol:CUL7 ; xref: GENATLAS:CUL7 ; xref: HGNC:21024 ; xref: OMIM:609577 ; xref: UNIPROTKB/SWISSPROT:Q14999 ; xref: ENSEMBL:ENSG00000044090 ; xref: REACTOME:Q14999]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617
Low birth weight - dwarfism - dysgammaglobulinemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2621
N-acetylgalactosamine 4-sulfatase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant;
Gene [OrphaNum:118405 ; Name:Ribosomal protein S6 kinase, 90kDa, polypeptide 3 ; Symbol:RPS6KA3 ; xref: GENATLAS:RPS6KA3 ; xref: HGNC:10432 ; xref: OMIM:300075 ; xref: UNIPROTKB/SWISSPROT:P51812 ; xref: REACTOME:P51812 ; xref: ENSEMBL:ENSG00000177189]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192
Gene [OrphaNum:183895 ; Name:ADAMTS-like 2 ; Symbol:ADAMTSL2 ; xref: ENSEMBL:ENSG00000197859 ; xref: HGNC:14631 ; xref: OMIM:612277 ; xref: GENATLAS:ADAMTSL2 ; xref: UNIPROTKB/SWISSPROT:Q86TH1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623
Mesomelic dwarfism - cleft palate - camptodactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2641
Microcephalic - primordial dwarfism, Toriello type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643
Microcephalic osteodysplastic primordial dwarfism types 1 and 3
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Gene [OrphaNum:265258 ; Name:RNA, U4atac small nuclear (U12-dependent splicing) ; Symbol:RNU4ATAC ; xref: ENSEMBL:ENSG00000208506 ; xref: HGNC:34016 ; xref: OMIM:601428]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636
Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Hereditary unconjugated hyperbilirubinemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2646
Dwarfism - intellectual deficit - eye abnormality
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2650
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2661
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662
Deafness - cataracts - skeletal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663
Nephropathy - deafness - hyperparathyroidism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668
Nephrosis - deafness - urinary tract - digital malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670
Coloboma of optic nerve with renal disease
Gene [OrphaNum:124088 ; Name:Paired box 2 ; Symbol:PAX2 ; xref: GENATLAS:PAX2 ; xref: HGNC:8616 ; xref: OMIM:167409 ; xref: UNIPROTKB/SWISSPROT:Q02962 ; xref: ENSEMBL:ENSG00000075891]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673
Cyprus facial-neuromusculoskeletal syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2676
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2679
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2683
Gene [OrphaNum:119222 ; Name:Chaperonin containing TCP1, subunit 5 (epsilon) ; Symbol:CCT5 ; xref: GENATLAS:CCT5 ; xref: HGNC:1618 ; xref: OMIM:610150 ; xref: UNIPROTKB/SWISSPROT:P48643 ; xref: REACTOME:P48643 ; xref: ENSEMBL:ENSG00000150753]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690
Gene [OrphaNum:117888 ; Name:Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 ; Symbol:PLOD1 ; xref: GENATLAS:PLOD1 ; xref: HGNC:9081 ; xref: OMIM:153454 ; xref: UNIPROTKB/SWISSPROT:Q02809 ; xref: ENSEMBL:ENSG00000083444]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2691
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695
Arthrogryposis - renal dysfunction - cholestasis
Gene [OrphaNum:227089 ; Name:VPS33B interacting protein, apical-basolateral polarity regulator ; Symbol:VIPAR ; xref: UNIPROTKB/SWISSPROT:Q9H9C1 ; xref: HGNC:20347 ; xref: ENSEMBL:ENSG00000151445 ; xref: GENATLAS:VIPAR ; xref: OMIM:613401]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697
Gene [OrphaNum:120480 ; Name:Vacuolar protein sorting 33 homolog B (yeast) ; Symbol:VPS33B ; xref: UNIPROTKB/SWISSPROT:Q9H267 ; xref: GENATLAS:VPS33B ; xref: HGNC:12712 ; xref: OMIM:608552 ; xref: ENSEMBL:ENSG00000184056]
Gene [OrphaNum:119327 ; Name:Cat eye syndrome chromosome region, candidate 1 ; Symbol:CECR1 ; xref: GENATLAS:CECR1 ; xref: HGNC:1839 ; xref: OMIM:607575 ; xref: UNIPROTKB/SWISSPROT:Q9NZK5 ; xref: ENSEMBL:ENSG00000093072]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Gene [OrphaNum:119330 ; Name:Cat eye syndrome chromosome region, candidate 2 ; Symbol:CECR2 ; xref: GENATLAS:CECR2 ; xref: HGNC:1840 ; xref: OMIM:607576 ; xref: UNIPROTKB/SWISSPROT:Q9BXF3 ; xref: ENSEMBL:ENSG00000099954]
Knuckle pads - leuconychia - sensorineural deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699
Noonan-like syndrome with loose anagen hair
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701
Gene [OrphaNum:220877 ; Name:Soc-2 suppressor of clear homolog (C. elegans) ; Symbol:SHOC2 ; xref: ENSEMBL:ENSG00000108061 ; xref: GENATLAS:SHOC2 ; xref: HGNC:15454 ; xref: OMIM:602775 ; xref: UNIPROTKB/SWISSPROT:Q9UQ13]
Partial facial palsy with urinary abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704
Gene [OrphaNum:235189 ; Name:Heparanase 2 ; Symbol:HPSE2 ; xref: ENSEMBL:ENSG00000172987 ; xref: HGNC:18374 ; xref: GENATLAS:HPSE2 ; xref: OMIM:613469 ; xref: UNIPROTKB/SWISSPROT:Q8WWQ2]
Oculocerebrofacial syndrome, Kaufman type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707
Gingival hypertrophy - corneal dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Cataract - microphthalmia - radiculomegaly - septal heart defect
Gene [OrphaNum:119012 ; Name:BCL6 co-repressor ; Symbol:BCOR ; xref: GENATLAS:BCOR ; xref: HGNC:20893 ; xref: OMIM:300485 ; xref: UNIPROTKB/SWISSPROT:Q6W2J9 ; xref: ENSEMBL:ENSG00000183337]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2716
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718
Oculocerebral hypopigmentation syndrome, Cross type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723
Odontomatosis - aortae esophagus stenosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724
Blepharophimosis-intellectual deficit syndrome, Ohdo type
Blepharophimosis-intellectual deficit syndrome, Say-Barber/ Biesecker/Young-Simpson type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167
Gene [OrphaNum:123318 ; Name:Lysosomal trafficking regulator ; Symbol:LYST ; xref: ENSEMBL:ENSG00000143669 ; xref: GENATLAS:LYST ; xref: HGNC:1968 ; xref: OMIM:606897 ; xref: UNIPROTKB/SWISSPROT:Q99698]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730
Taurodontia - absent teeth - sparse hair
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2731
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733
Lethal omphalocele-cleft palate syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736
Central congenital hypoventilation syndrome
Congenital central alveolar hypoventilation syndrome
Gene [OrphaNum:122076 ; Name:Glial cell derived neurotrophic factor ; Symbol:GDNF ; xref: GENATLAS:GDNF ; xref: HGNC:4232 ; xref: OMIM:600837 ; xref: UNIPROTKB/SWISSPROT:P39905 ; xref: ENSEMBL:ENSG00000168621 ; xref: REACTOME:P39905]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661
Gene [OrphaNum:121284 ; Name:Endothelin 3 ; Symbol:EDN3 ; xref: GENATLAS:EDN3 ; xref: HGNC:3178 ; xref: OMIM:131242 ; xref: UNIPROTKB/SWISSPROT:P14138 ; xref: ENSEMBL:ENSG00000124205 ; xref: REACTOME:P14138]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2739
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741
Ophthalmoplegia - intellectual deficit - lingua scrotalis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Joubert syndrome with orofaciodigital defect
Polydactyly - cleft lip/palate - psychomotor retardation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Gene [OrphaNum:221342 ; Name:Transmembrane protein 216 ; Symbol:TMEM216 ; xref: ENSEMBL:ENSG00000187049 ; xref: GENATLAS:TMEM216 ; xref: HGNC:25018 ; xref: OMIM:613277 ; xref: UNIPROTKB/SWISSPROT:Q9P0N5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Osteosarcoma - limb anomalies - erythroid macrocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763
Gene [OrphaNum:117673 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 9 ; Symbol:ABCC9 ; xref: GENATLAS:ABCC9 ; xref: HGNC:60 ; xref: OMIM:601439 ; xref: UNIPROTKB/SWISSPROT:O60706 ; xref: ENSEMBL:ENSG00000069431 ; xref: REACTOME:O60706]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2765
Homozygous familial hypobetalipoproteinemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14
Gene [OrphaNum:123576 ; Name:Microsomal triglyceride transfer protein ; Symbol:MTTP ; xref: GENATLAS:MTTP ; xref: HGNC:7467 ; xref: OMIM:157147 ; xref: UNIPROTKB/SWISSPROT:P55157 ; xref: ENSEMBL:ENSG00000138823 ; xref: REACTOME:P55157]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769
Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Gene [OrphaNum:120356 ; Name:TYRO protein tyrosine kinase binding protein ; Symbol:TYROBP ; xref: GENATLAS:TYROBP ; xref: HGNC:12449 ; xref: OMIM:604142 ; xref: UNIPROTKB/SWISSPROT:O43914 ; xref: REACTOME:O43914 ; xref: ENSEMBL:ENSG00000011600]
Gene [OrphaNum:120249 ; Name:Triggering receptor expressed on myeloid cells 2 ; Symbol:TREM2 ; xref: GENATLAS:TREM2 ; xref: HGNC:17761 ; xref: OMIM:605086 ; xref: UNIPROTKB/SWISSPROT:Q9NZC2 ; xref: ENSEMBL:ENSG00000095970 ; xref: REACTOME:Q9NZC2]
Multicentric carpo-tarsal osteolysis with or without nephropathy
Idiopathic multicentric osteolysis with or without nephropathy
Gene [OrphaNum:293867 ; Name:V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) ; Symbol:MAFB ; xref: HGNC:6408 ; xref: OMIM:608968 ; xref: GENATLAS:MAFB ; xref: UNIPROTKB/SWISSPROT:Q9Y5Q3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774
Autosomal recessive distal osteolysis syndrome
Distal osteolysis - short stature - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777
Osteopathia striata - pigmentary dermopathy - white forelock
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779
Hyperostosis generalisata with striations
Gene [OrphaNum:173515 ; Name:Family with sequence similarity 123B ; Symbol:FAM123B ; xref: GENATLAS:FAM123B ; xref: HGNC:26837 ; xref: OMIM:300647 ; xref: UNIPROTKB/SWISSPROT:Q5JTC6 ; xref: ENSEMBL:ENSG00000184675 ; xref: REACTOME:Q5JTC6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Autosomal recessive malignant osteopetrosis
Gene [OrphaNum:299652 ; Name:Sorting nexin 10 ; Symbol:SNX10 ; xref: HGNC:14974 ; xref: GENATLAS:SNX10 ; xref: UNIPROTKB/SWISSPROT:Q9Y5X0]
Gene [OrphaNum:124029 ; Name:Osteopetrosis associated transmembrane protein 1 ; Symbol:OSTM1 ; xref: GENATLAS:OSTM1 ; xref: HGNC:21652 ; xref: OMIM:607649 ; xref: UNIPROTKB/SWISSPROT:Q86WC4 ; xref: ENSEMBL:ENSG00000081087]
Gene [OrphaNum:119990 ; Name:T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 ; Symbol:TCIRG1 ; xref: GENATLAS:TCIRG1 ; xref: HGNC:11647 ; xref: OMIM:604592 ; xref: UNIPROTKB/SWISSPROT:Q13488 ; xref: ENSEMBL:ENSG00000110719 ; xref: REACTOME:Q13488]
Gene [OrphaNum:159048 ; Name:Tumor necrosis factor (ligand) superfamily, member 11 ; Symbol:TNFSF11 ; xref: ENSEMBL:ENSG00000120659 ; xref: GENATLAS:TNFSF11 ; xref: HGNC:11926 ; xref: OMIM:602642 ; xref: UNIPROTKB/SWISSPROT:O14788]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783
Disseminated dermatofibrosis with osteopoikilosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1306
Osteoporosis-oculocutaneous-hypopigmentation syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786
Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2787
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789
Autosomal dominant osteosclerosis, Worth type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791
Corpus callosum agenesis of with chorioretinal abnormality
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796
Gene [OrphaNum:291830 ; Name:Solute carrier organic anion transporter family, member 2A1 ; Symbol:SLCO2A1 ; xref: GENATLAS:SLCO2A1 ; xref: ENSEMBL:ENSG00000174640 ; xref: HGNC:10955 ; xref: OMIM:601460 ; xref: UNIPROTKB/SWISSPROT:Q92959]
Pachygyria - intellectual deficit - epilepsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798
Gene [OrphaNum:239949 ; Name:WD repeat domain 62 ; Symbol:WDR62 ; xref: OMIM:613583 ; xref: UNIPROTKB/SWISSPROT:O43379 ; xref: HGNC:24502 ; xref: ENSEMBL:ENSG00000075702 ; xref: GENATLAS:WDR62]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802
Gene [OrphaNum:117646 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 7 ; Symbol:ABCB7 ; xref: GENATLAS:ABCB7 ; xref: HGNC:48 ; xref: OMIM:300135 ; xref: UNIPROTKB/SWISSPROT:O75027 ; xref: ENSEMBL:ENSG00000131269 ; xref: REACTOME:O75027]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53
Keratosis palmoplantar - periodontopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808
Familial recurrent peripheral facial palsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2809
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815
Paraplegia - brachydactyly - cone-shaped epiphysis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2823
Spastic paraplegia - epilepsy - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2816
Spastic paraplegia - glaucoma - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818
Spastic paraplegia - nephritis - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820
Autosomal recessive spastic paraplegia type 11
Spastic paraplegia - intellectual deficit - thin corpus callosum
Gene [OrphaNum:119807 ; Name:Spastic paraplegia 11 (autosomal recessive) ; Symbol:SPG11 ; xref: GENATLAS:SPG11 ; xref: HGNC:11226 ; xref: OMIM:610844 ; xref: UNIPROTKB/SWISSPROT:Q96JI7 ; xref: ENSEMBL:ENSG00000104133]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822
Poikiloderma - alopecia - retrognathism - cleft palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825
Short tarsus - absence of lower eyelashes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832
Male sterility due to chromosome Y deletion
Gene [OrphaNum:121012 ; Name:Deleted in azoospermia 1 ; Symbol:DAZ1 ; xref: GENATLAS:DAZ1 ; xref: HGNC:2682 ; xref: OMIM:400003 ; xref: UNIPROTKB/SWISSPROT:Q9NQZ3 ; xref: ENSEMBL:ENSG00000188120]
Gene [OrphaNum:121020 ; Name:Deleted in azoospermia 4 ; Symbol:DAZ4 ; xref: GENATLAS:DAZ4 ; xref: HGNC:15966 ; xref: UNIPROTKB/SWISSPROT:Q86SG3 ; xref: OMIM:400003 ; xref: ENSEMBL:ENSG00000205916]
prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646
Gene [OrphaNum:120450 ; Name:Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila) ; Symbol:USP9Y ; xref: GENATLAS:USP9Y ; xref: HGNC:12633 ; xref: OMIM:400005 ; xref: UNIPROTKB/SWISSPROT:O00507 ; xref: ENSEMBL:ENSG00000114374]
Gene [OrphaNum:168351 ; Name:RNA binding motif protein, Y-linked, family 1, member A1 ; Symbol:RBMY1A1 ; xref: GENATLAS:RBMY1A1 ; xref: HGNC:9912 ; xref: OMIM:400006 ; xref: UNIPROTKB/SWISSPROT:Q15414 ; xref: ENSEMBL:ENSG00000234414]
Gene [OrphaNum:121016 ; Name:Deleted in azoospermia 2 ; Symbol:DAZ2 ; xref: GENATLAS:DAZ2 ; xref: HGNC:15964 ; xref: OMIM:400026 ; xref: UNIPROTKB/SWISSPROT:Q13117 ; xref: ENSEMBL:ENSG00000205944]
Gene [OrphaNum:167883 ; Name:DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked ; Symbol:DDX3Y ; xref: GENATLAS:DDX3Y ; xref: HGNC:2699 ; xref: OMIM:400010 ; xref: UNIPROTKB/SWISSPROT:O15523 ; xref: ENSEMBL:ENSG00000067048]
Gene [OrphaNum:121018 ; Name:Deleted in azoospermia 3 ; Symbol:DAZ3 ; xref: GENATLAS:DAZ3 ; xref: HGNC:15965 ; xref: OMIM:400027 ; xref: UNIPROTKB/SWISSPROT:Q9NR90 ; xref: ENSEMBL:ENSG00000187191]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Progressive encephalopathy - optic atrophy
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836
Pellagra-like skin rash - neurological manifestations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2837
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839
Pelvic dysplasia - arthrogryposis of lower limbs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850
Fibular hypoplasia or aplasia - femoral bowing - oligodactyly
Gene [OrphaNum:120543 ; Name:Wingless-type MMTV integration site family, member 7A ; Symbol:WNT7A ; xref: ENSEMBL:ENSG00000154764 ; xref: REACTOME:O00755 ; xref: GENATLAS:WNT7A ; xref: HGNC:12786 ; xref: OMIM:601570 ; xref: UNIPROTKB/SWISSPROT:O00755]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855
Gene [OrphaNum:268052 ; Name:histidyl-tRNA synthetase 2, mitochondrial (putative) ; Symbol:HARS2 ; xref: ENSEMBL:ENSG00000112855 ; xref: REACTOME:P49590 ; xref: HGNC:4817 ; xref: OMIM:600783 ; xref: GENATLAS:HARS2 ; xref: UNIPROTKB/SWISSPROT:P49590]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708
Gene [OrphaNum:120052 ; Name:Transforming growth factor, beta 2 ; Symbol:TGFB2 ; xref: GENATLAS:TGFB2 ; xref: HGNC:11768 ; xref: OMIM:190220 ; xref: UNIPROTKB/SWISSPROT:P61812 ; xref: REACTOME:P61812 ; xref: ENSEMBL:ENSG00000092969]
Gene [OrphaNum:122391 ; Name:Histone deacetylase 9 ; Symbol:HDAC9 ; xref: GENATLAS:HDAC9 ; xref: HGNC:14065 ; xref: OMIM:606543 ; xref: UNIPROTKB/SWISSPROT:Q9UKV0 ; xref: ENSEMBL:ENSG00000048052 ; xref: REACTOME:Q9UKV0]
Short stature - webbed neck - heart disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865
Short stature - deafness - neutrophil dysfunction - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871
Craniosynostosis - congenital heart disease - intellectual deficit
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876
Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885
Pierre Robin sequence - congenital heart defect - talipes
Pierre Robin syndrome - congenital heart defect - talipes
Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886
Gene [OrphaNum:233025 ; Name:RNA binding motif protein 10 ; Symbol:RBM10 ; xref: ENSEMBL:ENSG00000182872 ; xref: HGNC:9896 ; xref: GENATLAS:RBM10 ; xref: UNIPROTKB/SWISSPROT:P98175 ; xref: OMIM:300080]
Pierre Robin syndrome - faciodigital anomaly
Pierre Robin sequence - faciodigital anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889
Pili torti - developmental delay - neurological abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891
Pilodental dysplasia - refractive errors
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2894
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900
Hereditary acrokeratotic poikiloderma, Weary type
Congenital poikiloderma with bullae, Weary type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907
Gene [OrphaNum:159172 ; Name:Fermitin family homolog 1 (Drosophila) ; Symbol:FERMT1 ; xref: GENATLAS:FERMT1 ; xref: HGNC:15889 ; xref: OMIM:607900 ; xref: UNIPROTKB/SWISSPROT:Q9BQL6 ; xref: ENSEMBL:ENSG00000101311]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911
Polydactyly postaxial - dental and vertebral anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2918
Polydactyly postaxial with median cleft of upper lip
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Postaxial polydactyly - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920
Preaxial polydactyly - colobomata - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2922
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924
Gene [OrphaNum:118567 ; Name:SEC63 homolog (S. cerevisiae) ; Symbol:SEC63 ; xref: GENATLAS:SEC63 ; xref: HGNC:21082 ; xref: OMIM:608648 ; xref: UNIPROTKB/SWISSPROT:Q9UGP8 ; xref: ENSEMBL:ENSG00000025796]
Gene [OrphaNum:118020 ; Name:Protein kinase C substrate 80K-H ; Symbol:PRKCSH ; xref: GENATLAS:PRKCSH ; xref: HGNC:9411 ; xref: OMIM:177060 ; xref: UNIPROTKB/SWISSPROT:P14314 ; xref: ENSEMBL:ENSG00000130175 ; xref: REACTOME:P14314]
Polymicrogyria - turricephaly - hypogenitalism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2925
Polyneuropathy - intellectual deficit - acromicria - premature menopause
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928
Gastrointestinal polyposis - ectodermal changes
Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Any age; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935
Gene [OrphaNum:160003 ; Name:Cytochrome P450, family 4, subfamily F, polypeptide 22 ; Symbol:CYP4F22 ; xref: GENATLAS:CYP4F22 ; xref: HGNC:26820 ; xref: OMIM:611495 ; xref: UNIPROTKB/SWISSPROT:Q6NT55 ; xref: ENSEMBL:ENSG00000171954]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313
Gene [OrphaNum:264501 ; Name:lipase, family member N ; Symbol:LIPN ; xref: ENSEMBL:ENSG00000204020 ; xref: GENATLAS:LIPN ; xref: HGNC:23452 ; xref: OMIM:613924 ; xref: UNIPROTKB/SWISSPROT:Q5VXI9]
Gene [OrphaNum:291813 ; Name:Collagen, type IV, alpha 2 ; Symbol:COL4A2 ; xref: HGNC:2203 ; xref: OMIM:120090 ; xref: UNIPROTKB/SWISSPROT:P08572 ; xref: GENATLAS:COL4A2 ; xref: ENSEMBL:ENSG00000134871]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940
prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant;
Gene [OrphaNum:268073 ; Name:uroplakin 3A ; Symbol:UPK3A ; xref: ENSEMBL:ENSG00000100373 ; xref: HGNC:12580 ; xref: OMIM:611559 ; xref: GENATLAS:UPK3A ; xref: UNIPROTKB/SWISSPROT:O75631]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2944
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946
Triphalangeal thumbs - brachyectrodactyly
Carnevale-Hernandez-del Castillo syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947
Familial triphalangeal thumbs - big toes duplication
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2948
Triphalangeal thumb - polysyndactyly syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2950
Absent thumb - short stature - immunodeficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2951
Adducted thumbs - arthrogryposis, Christian type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952
Intellectual deficit - short broad thumbs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2954
Brachydactyly - scoliosis - carpal fusion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956
Preaxial deficiency - postaxial polydactyly - hypospadias
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740
Progeria - short stature - pigmented nevi
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959
Cutis laxa - corneal clouding - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2964
Proteus-like syndrome - intellectual deficit - eye defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969
Pseudoachondroplastic spondyloepiphyseal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750
Noneruption of teeth - maxillary hypoplasia - genu valgum
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972
46,XX disorder of sex development - anorectal anomalies
Female pseudohermaphrodism - anorectal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973
46,XX disorder of sex development - skeletal anomalies
Female pseudohermaphroditism - skeletal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975
Pseudoleprechaunism syndrome, Patterson type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978
Pseudopapilledema - blepharophimosis - hand anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980
Eyebrows and eyelashes absence - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987
Pterygium colli - intellectual deficit - digital anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked dominant;
Pterygium of the conjunctiva, familial form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2989
Autosomal recessive multiple pterygium syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999
N-acetyl-glucosamine 1-phosphotransferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576
Gene [OrphaNum:122216 ; Name:N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ; Symbol:GNPTAB ; xref: GENATLAS:GNPTAB ; xref: HGNC:29670 ; xref: OMIM:607840 ; xref: UNIPROTKB/SWISSPROT:Q3T906 ; xref: ENSEMBL:ENSG00000111670]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003
Mirror polydactyly - vertebral segmentation - limbs defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005
Dysharmonic skeletal maturation - muscular fibre disproportion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010
Spastic quadriplegia - retinitis pigmentosa - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769
Gene [OrphaNum:138509 ; Name:Family with sequence similarity 20, member C ; Symbol:FAM20C ; xref: GENATLAS:FAM20C ; xref: HGNC:22140 ; xref: OMIM:611061 ; xref: UNIPROTKB/SWISSPROT:Q8IXL6 ; xref: ENSEMBL:ENSG00000177706]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832
Cherubism - gingival fibromatosis - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021
Anhidrotic ectodermic dysplasia - cleft lip/palate
Ectodermal dysplasia syndrome, Rapp-Hodgkin type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3022
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026
Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033
Intellectual deficit - unusual facies - talipes - hand anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3045
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034
Growth delay - hydrocephaly - lung hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035
Delayed speech - facial asymmetry - strabismus - ear lobe creases
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038
Intellectual deficit - balding - patella luxation - acromicria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041
Intellectual deficit - cataracts - calcified pinnae - myopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044
Blepharophimosis-intellectual deficit syndrome, SBBYS type
Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Intellectual deficit - hypotonia - skin hyperpigmentation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3050
Intellectual deficit, X-linked - seizures - psoriasis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052
Intellectual deficit, X-linked, Martinez type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=775
Intellectual deficit, X-linked - short stature - obesity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055
Intellectual deficit, X-linked, Brooks type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3056
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057
Gene [OrphaNum:123133 ; Name:Monoamine oxidase A ; Symbol:MAOA ; xref: GENATLAS:MAOA ; xref: HGNC:6833 ; xref: OMIM:309850 ; xref: UNIPROTKB/SWISSPROT:P21397 ; xref: ENSEMBL:ENSG00000189221 ; xref: REACTOME:P21397]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3059
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442
Gene [OrphaNum:138732 ; Name:X-linked inhibitor of apoptosis ; Symbol:XIAP ; xref: GENATLAS:XIAP ; xref: HGNC:592 ; xref: OMIM:300079 ; xref: UNIPROTKB/SWISSPROT:P98170 ; xref: ENSEMBL:ENSG00000101966 ; xref: REACTOME:P98170]
Gene [OrphaNum:118679 ; Name:SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) ; Symbol:SH2D1A ; xref: GENATLAS:SH2D1A ; xref: HGNC:10820 ; xref: OMIM:300490 ; xref: UNIPROTKB/SWISSPROT:O60880 ; xref: ENSEMBL:ENSG00000183918]
Intellectual deficit, X-linked, Raynaud type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3061
Intellectual deficit, X-linked, Schutz type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3062
Intellectual deficit, X-linked, Snyder type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063
Gene [OrphaNum:138543 ; Name:Spermine synthase ; Symbol:SMS ; xref: GENATLAS:SMS ; xref: HGNC:11123 ; xref: OMIM:300105 ; xref: UNIPROTKB/SWISSPROT:P52788 ; xref: ENSEMBL:ENSG00000102172 ; xref: REACTOME:P52788]
Intellectual deficit, X-linked, Wittner type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3064
Intellectual deficit - microcephaly - phalangeal - facial abnormalities
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3067
Intellectual deficit - myopathy - short stature - endocrine defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068
Intellectual deficit, X-linked - psychosis - macroorchidism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077
Severe X-linked intellectual deficit, Gustavson type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080
Autosomal dominant vitreoretinochoroidopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3087
Congenital pulmonary venous return anomaly
Congenital pulmonary venous connection anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090
Rhabdomyomatous dysplasia - cardiopathy - genital anomalies
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098
Myotonia - intellectual deficit - skeletal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101
Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot
Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3105
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3106
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107
Gene [OrphaNum:231387 ; Name:Wingless-type MMTV integration site family, member 5A ; Symbol:WNT5A ; xref: ENSEMBL:ENSG00000114251 ; xref: GENATLAS:WNT5A ; xref: HGNC:12784 ; xref: OMIM:164975 ; xref: UNIPROTKB/SWISSPROT:P41221 ; xref: REACTOME:P41221]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909
Areflexic dystasia, hereditary, Roussy-Levy type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115
Gonadotropin-independent female-limited sexual precocity
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3118
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3123
Gene [OrphaNum:122221 ; Name:N-acetylglucosamine-1-phosphate transferase, gamma subunit ; Symbol:GNPTG ; xref: GENATLAS:GNPTG ; xref: HGNC:23026 ; xref: OMIM:607838 ; xref: UNIPROTKB/SWISSPROT:Q9UJJ9 ; xref: ENSEMBL:ENSG00000090581]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577
Gene [OrphaNum:247155 ; Name:WD repeat containing planar cell polarity effector ; Symbol:WDPCP ; xref: ENSEMBL:ENSG00000143951 ; xref: HGNC:28027 ; xref: UNIPROTKB/SWISSPROT:O95876 ; xref: OMIM:613580 ; xref: GENATLAS:WDPCP]
Gene [OrphaNum:270354 ; Name:B9 protein domain 1 ; Symbol:B9D1 ; xref: ENSEMBL:ENSG00000108641 ; xref: HGNC:24123 ; xref: GENATLAS:B9D1 ; xref: UNIPROTKB/SWISSPROT:Q9UPM9 ; xref: OMIM:614144]
Gene [OrphaNum:119343 ; Name:Centrosomal protein 290kDa ; Symbol:CEP290 ; xref: GENATLAS:CEP290 ; xref: HGNC:29021 ; xref: OMIM:610142 ; xref: UNIPROTKB/SWISSPROT:O15078 ; xref: ENSEMBL:ENSG00000198707 ; xref: REACTOME:O15078]
Gene [OrphaNum:279753 ; Name:B9 protein domain 2 ; Symbol:B9D2 ; xref: ENSEMBL:ENSG00000123810 ; xref: REACTOME:Q9BPU9 ; xref: HGNC:28636 ; xref: OMIM:611951 ; xref: GENATLAS:B9D2 ; xref: UNIPROTKB/SWISSPROT:Q9BPU9]
Gene [OrphaNum:123253 ; Name:Meckel syndrome, type 1 ; Symbol:MKS1 ; xref: GENATLAS:MKS1 ; xref: HGNC:7121 ; xref: OMIM:609883 ; xref: UNIPROTKB/SWISSPROT:Q9NXB0 ; xref: ENSEMBL:ENSG00000011143]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3128
Microcephaly - hypogammaglobulinemia - abnormal immunity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132
Triphalangeal thumbs - dislocation of patella
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3133
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798
Gene [OrphaNum:231397 ; Name:SET binding protein 1 ; Symbol:SETBP1 ; xref: GENATLAS:SETBP1 ; xref: HGNC:15573 ; xref: OMIM:611060 ; xref: UNIPROTKB/SWISSPROT:Q9Y6X0 ; xref: ENSEMBL:ENSG00000152217]
Gene [OrphaNum:119961 ; Name:T-box 3 (ulnar mammary syndrome) ; Symbol:TBX3 ; xref: GENATLAS:TBX3 ; xref: HGNC:11602 ; xref: OMIM:601621 ; xref: UNIPROTKB/SWISSPROT:O15119 ; xref: ENSEMBL:ENSG00000135111]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144
Gene [OrphaNum:168079 ; Name:Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 ; Symbol:SLC35D1 ; xref: GENATLAS:SLC35D1 ; xref: HGNC:20800 ; xref: OMIM:610804 ; xref: UNIPROTKB/SWISSPROT:Q9NTN3 ; xref: ENSEMBL:ENSG00000116704 ; xref: REACTOME:Q9NTN3]
Nephrogenic diabetes insipidus - intracranial calcification
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145
Gene [OrphaNum:233032 ; Name:Low density lipoprotein receptor-related protein 4 ; Symbol:LRP4 ; xref: ENSEMBL:ENSG00000134569 ; xref: HGNC:6696 ; xref: GENATLAS:LRP4 ; xref: UNIPROTKB/SWISSPROT:O75096 ; xref: OMIM:604270]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152
Familial hemophagocytic lymphohistiocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540
Gene [OrphaNum:227102 ; Name:Syntaxin binding protein 2 ; Symbol:STXBP2 ; xref: GENATLAS:STXBP2 ; xref: HGNC:11445 ; xref: OMIM:601717 ; xref: UNIPROTKB/SWISSPROT:Q15833 ; xref: ENSEMBL:ENSG00000076944]
Gene [OrphaNum:117995 ; Name:Perforin 1 (pore forming protein) ; Symbol:PRF1 ; xref: GENATLAS:PRF1 ; xref: HGNC:9360 ; xref: OMIM:170280 ; xref: UNIPROTKB/SWISSPROT:P14222 ; xref: ENSEMBL:ENSG00000180644]
Gene [OrphaNum:120416 ; Name:Unc-13 homolog D (C. elegans) ; Symbol:UNC13D ; xref: GENATLAS:UNC13D ; xref: HGNC:23147 ; xref: OMIM:608897 ; xref: UNIPROTKB/SWISSPROT:Q70J99 ; xref: ENSEMBL:ENSG00000092929]
Gene [OrphaNum:119892 ; Name:Syntaxin 11 ; Symbol:STX11 ; xref: GENATLAS:STX11 ; xref: HGNC:11429 ; xref: OMIM:605014 ; xref: UNIPROTKB/SWISSPROT:O75558 ; xref: REACTOME:O75558 ; xref: ENSEMBL:ENSG00000135604]
Immunodeficiency - microcephaly - chromosomal instability
Microcephaly - immunodeficiency - lymphoreticuloma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647
Gene [OrphaNum:123688 ; Name:Nibrin ; Symbol:NBN ; xref: GENATLAS:NBN ; xref: HGNC:7652 ; xref: OMIM:602667 ; xref: UNIPROTKB/SWISSPROT:O60934 ; xref: ENSEMBL:ENSG00000104320 ; xref: REACTOME:O60934]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156
Gene [OrphaNum:123884 ; Name:Nephronophthisis 4 ; Symbol:NPHP4 ; xref: GENATLAS:NPHP4 ; xref: HGNC:19104 ; xref: OMIM:607215 ; xref: UNIPROTKB/SWISSPROT:O75161 ; xref: ENSEMBL:ENSG00000131697 ; xref: REACTOME:O75161]
Gene [OrphaNum:122667 ; Name:Inversin ; Symbol:INVS ; xref: GENATLAS:INVS ; xref: HGNC:17870 ; xref: OMIM:243305 ; xref: UNIPROTKB/SWISSPROT:Q9Y283 ; xref: ENSEMBL:ENSG00000119509]
Gene [OrphaNum:244364 ; Name:Serologically defined colon cancer antigen 8 ; Symbol:SDCCAG8 ; xref: GENATLAS:SDCCAG8 ; xref: HGNC:10671 ; xref: OMIM:613524 ; xref: UNIPROTKB/SWISSPROT:Q86SQ7 ; xref: REACTOME:Q86SQ7 ; xref: ENSEMBL:ENSG00000054282]
Gene [OrphaNum:122670 ; Name:IQ motif containing B1 ; Symbol:IQCB1 ; xref: GENATLAS:IQCB1 ; xref: HGNC:28949 ; xref: OMIM:609237 ; xref: UNIPROTKB/SWISSPROT:Q15051 ; xref: ENSEMBL:ENSG00000173226]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
Atrial septal defect - atrioventricular conduction defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479
Lipodystrophy - Rieger anomaly - diabetes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
Asphyxiating thoracic dystrophy of the newborn
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474
Omphalocele syndrome, Shprintzen-Goldberg type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168
Spasticity - intellectual deficit - X-linked epilepsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175
Spinocerebellar degeneration - corneal dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177
Congenital muscular dystrophy due to laminin alpha2 deficiency
Merosin-negative congenital muscular dystrophy
Gene [OrphaNum:122961 ; Name:Laminin, alpha 2 (merosin, congenital muscular dystrophy) ; Symbol:LAMA2 ; xref: GENATLAS:LAMA2 ; xref: HGNC:6482 ; xref: OMIM:156225 ; xref: UNIPROTKB/SWISSPROT:P24043 ; xref: ENSEMBL:ENSG00000196569 ; xref: REACTOME:P24043]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797
Spondylometaphyseal dysplasia with enchondromatous changes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855
Gene [OrphaNum:259358 ; Name:acid phosphatase 5, tartrate resistant ; Symbol:ACP5 ; xref: ENSEMBL:ENSG00000102575 ; xref: REACTOME:P13686 ; xref: HGNC:124 ; xref: OMIM:171640 ; xref: GENATLAS:ACP5 ; xref: UNIPROTKB/SWISSPROT:P13686]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252
Spondyloperipheral dysplasia - short ulna
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3181
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184
Holoprosencephaly - radial heart renal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194
Gene [OrphaNum:158412 ; Name:Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 ; Symbol:SLC6A5 ; xref: GENATLAS:SLC6A5 ; xref: HGNC:11051 ; xref: OMIM:604159 ; xref: UNIPROTKB/SWISSPROT:Q9Y345 ; xref: REACTOME:Q9Y345 ; xref: ENSEMBL:ENSG00000165970]
Gene [OrphaNum:122179 ; Name:Glycine receptor, alpha 1 (startle disease/hyperekplexia) ; Symbol:GLRA1 ; xref: GENATLAS:GLRA1 ; xref: HGNC:4326 ; xref: OMIM:138491 ; xref: UNIPROTKB/SWISSPROT:P23415 ; xref: REACTOME:P23415 ; xref: IUPHAR:423 ; xref: ENSEMBL:ENSG00000145888]
Gene [OrphaNum:122182 ; Name:Glycine receptor, beta ; Symbol:GLRB ; xref: GENATLAS:GLRB ; xref: HGNC:4329 ; xref: OMIM:138492 ; xref: UNIPROTKB/SWISSPROT:P48167 ; xref: IUPHAR:427 ; xref: ENSEMBL:ENSG00000109738 ; xref: REACTOME:P48167]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3210
Autosomal dominant optic atrophy and congenital deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3212
Deaf blind hypopigmentation syndrome, Yemenite type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Deafness - small bowel diverticulosis - neuropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217
Deafness - epiphyseal dysplasia - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218
Deafness - skeletal dysplasia - lip granuloma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219
Deafness - enamel hypoplasia - nail defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220
Generalized resistance to thyroid hormone
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3221
Phosphoribosylpyrophosphate synthetase superactivity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222
Deafness - genital anomalies - metacarpal and metatarsal synostosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224
Hearing loss - familial salivary gland insensitivity to aldosterone
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226
Deafness - peripheral neuropathy - arterial disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3229
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231
prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Deafness - ear malformation - facial palsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233
Progressive deafness with stapes fixation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235
Conductive deafness - ptosis - skeletal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236
Deafness - symphalangism syndrome, Hermann type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237
Gene [OrphaNum:201587 ; Name:Fibroblast growth factor 9 (glia-activating factor) ; Symbol:FGF9 ; xref: REACTOME:P31371 ; xref: GENATLAS:FGF9 ; xref: HGNC:3687 ; xref: OMIM:600921 ; xref: UNIPROTKB/SWISSPROT:P31371 ; xref: ENSEMBL:ENSG00000102678]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Mitral regurgitation - deafness - skeletal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241
Gene [OrphaNum:123175 ; Name:Mucolipin 1 ; Symbol:MCOLN1 ; xref: GENATLAS:MCOLN1 ; xref: HGNC:13356 ; xref: OMIM:605248 ; xref: UNIPROTKB/SWISSPROT:Q9GZU1 ; xref: IUPHAR:501 ; xref: ENSEMBL:ENSG00000090674]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578
X-linked intellectual deficit due to PQBP1 mutations
X-linked intellectual deficit, Renpenning type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242
Symphalangism with multiple anomalies of hands and feet
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250
Syndactyly - ectodermal dysplasia - cleft/lip palate
Gene [OrphaNum:118162 ; Name:Poliovirus receptor-related 1 (herpesvirus entry mediator C) ; Symbol:PVRL1 ; xref: GENATLAS:PVRL1 ; xref: HGNC:9706 ; xref: OMIM:600644 ; xref: UNIPROTKB/SWISSPROT:Q15223 ; xref: ENSEMBL:ENSG00000110400 ; xref: REACTOME:Q15223]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253
Syndactyly type 1 - microcephaly - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3267
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268
Radioulnar synostosis - intellectual deficit - hypotonia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3274
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275
Gene [OrphaNum:159528 ; Name:ATP-binding cassette, sub-family A (ABC1), member 1 ; Symbol:ABCA1 ; xref: GENATLAS:ABCA1 ; xref: HGNC:29 ; xref: OMIM:600046 ; xref: UNIPROTKB/SWISSPROT:O95477 ; xref: REACTOME:O95477 ; xref: ENSEMBL:ENSG00000165029]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425
prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3289
Mandibulofacial dysostosis without limb anomalies
Gene [OrphaNum:250168 ; Name:Polymerase (RNA) I polypeptide D, 16kDa ; Symbol:POLR1D ; xref: ENSEMBL:ENSG00000186184 ; xref: REACTOME:Q9Y2S0 ; xref: GENATLAS:POLR1D ; xref: HGNC:20422 ; xref: OMIM:613715 ; xref: UNIPROTKB/SWISSPROT:Q9Y2S0]
Gene [OrphaNum:250183 ; Name:Polymerase (RNA) I polypeptide C, 30kDa ; Symbol:POLR1C ; xref: ENSEMBL:ENSG00000171453 ; xref: REACTOME:O15160 ; xref: UNIPROTKB/SWISSPROT:O15160 ; xref: OMIM:610060 ; xref: HGNC:20194 ; xref: GENATLAS:POLR1C]
Gene [OrphaNum:120003 ; Name:Treacher Collins-Franceschetti syndrome 1 ; Symbol:TCOF1 ; xref: GENATLAS:TCOF1 ; xref: HGNC:11654 ; xref: OMIM:606847 ; xref: UNIPROTKB/SWISSPROT:Q13428 ; xref: ENSEMBL:ENSG00000070814]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Telecanthus - hypertelorism - strabismus - pes cavus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301
Gene [OrphaNum:120537 ; Name:Wingless-type MMTV integration site family, member 3 ; Symbol:WNT3 ; xref: ENSEMBL:ENSG00000108379 ; xref: REACTOME:P56703 ; xref: GENATLAS:WNT3 ; xref: HGNC:12782 ; xref: OMIM:165330 ; xref: UNIPROTKB/SWISSPROT:P56703]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308
Gene [OrphaNum:169957 ; Name:Prickle homolog 1 (Drosophila) ; Symbol:PRICKLE1 ; xref: GENATLAS:PRICKLE1 ; xref: HGNC:17019 ; xref: OMIM:608500 ; xref: UNIPROTKB/SWISSPROT:Q96MT3 ; xref: ENSEMBL:ENSG00000139174]
Gene [OrphaNum:120867 ; Name:Cystatin B (stefin B) ; Symbol:CSTB ; xref: GENATLAS:CSTB ; xref: HGNC:2482 ; xref: OMIM:601145 ; xref: UNIPROTKB/SWISSPROT:P04080 ; xref: ENSEMBL:ENSG00000160213]
Fallot complex - intellectual deficit - growth delay
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312
Aseptic necrosis of phalangeal epiphyses
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314
Potter sequence - cleft lip/palate - cardiopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317
Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia
Gene [OrphaNum:121091 ; Name:Dyskeratosis congenita 1, dyskerin ; Symbol:DKC1 ; xref: GENATLAS:DKC1 ; xref: HGNC:2890 ; xref: OMIM:300126 ; xref: UNIPROTKB/SWISSPROT:O60832 ; xref: ENSEMBL:ENSG00000130826 ; xref: REACTOME:O60832]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3323
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327
Absent tibia - polydactyly - arachnoid cyst
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328
Aplasia of tibia with split-hand/split-foot deformity
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
Tibial hemimelia with split hand/foot malformation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Gene [OrphaNum:292035 ; Name:Basic helix-loop-helix family, member a9 ; Symbol:BHLHA9 ; xref: HGNC:35126 ; xref: UNIPROTKB/SWISSPROT:Q7RTU4 ; xref: ENSEMBL:ENSG00000205899]
Hypoplastic tibiae - post axial polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3332
Corpus callosum agenesis - blepharophimosis - Robin sequence
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338
Aplasia cutis congenita - epibulbar dermoids
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339
Torticollis - keloids - cryptorchidism - renal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341
Gene [OrphaNum:118825 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 10 ; Symbol:SLC2A10 ; xref: GENATLAS:SLC2A10 ; xref: HGNC:13444 ; xref: OMIM:606145 ; xref: UNIPROTKB/SWISSPROT:O95528 ; xref: ENSEMBL:ENSG00000197496 ; xref: REACTOME:O95528]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352
Trichodermodysplasia - dental alterations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353
Ectodermal dysplasia - cataracts - kyphoscoliosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3354
Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3356
Tricho-odonto-onychodysplasia - dominant syndactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3357
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361
Trichomegaly - cataract - hereditary spherocytosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3362
Trichomegaly - retina pigmentary degeneration - dwarfism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366
Trigonocephaly - bifid nose - acral anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368
Trigonocephaly - short stature - developmental delay
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- X-linked recessive;
Gene [OrphaNum:119743 ; Name:Structural maintenance of chromosomes 1A ; Symbol:SMC1A ; xref: GENATLAS:SMC1A ; xref: HGNC:11111 ; xref: OMIM:300040 ; xref: UNIPROTKB/SWISSPROT:Q14683 ; xref: ENSEMBL:ENSG00000072501 ; xref: REACTOME:Q14683]
Gene [OrphaNum:138480 ; Name:Structural maintenance of chromosomes 3 ; Symbol:SMC3 ; xref: GENATLAS:SMC3 ; xref: HGNC:2468 ; xref: OMIM:606062 ; xref: UNIPROTKB/SWISSPROT:Q9UQE7 ; xref: REACTOME:Q9UQE7 ; xref: ENSEMBL:ENSG00000108055]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Gene [OrphaNum:123789 ; Name:Nipped-B homolog (Drosophila) ; Symbol:NIPBL ; xref: GENATLAS:NIPBL ; xref: HGNC:28862 ; xref: OMIM:608667 ; xref: UNIPROTKB/SWISSPROT:Q6KC79 ; xref: ENSEMBL:ENSG00000164190]
Gene [OrphaNum:304234 ; Name:RAD21 homolog (S. pombe) ; Symbol:RAD21 ; xref: HGNC:9811 ; xref: OMIM:606462 ; xref: GENATLAS:RAD21 ; xref: UNIPROTKB/SWISSPROT:O60216]
Gene [OrphaNum:290272 ; Name:Histone deacetylase 8 ; Symbol:HDAC8 ; xref: GENATLAS:HDAC8 ; xref: ENSEMBL:ENSG00000147099 ; xref: HGNC:13315 ; xref: OMIM:300269 ; xref: UNIPROTKB/SWISSPROT:Q9BY41 ; xref: REACTOME:Q9BY41]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1717
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383
Isolated anterior cervical hypertrichosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388
Lysosomal alpha-D-mannosidase deficiency
Gene [OrphaNum:123328 ; Name:Mannosidase, alpha, class 2B, member 1 ; Symbol:MAN2B1 ; xref: GENATLAS:MAN2B1 ; xref: HGNC:6826 ; xref: OMIM:609458 ; xref: UNIPROTKB/SWISSPROT:O00754 ; xref: ENSEMBL:ENSG00000104774]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645
Odonto-onycho-hypohidrotic dysplasia - midline scalp defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3391
Renal dysplasia - mesomelia - radiohumeral fusion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404
Hip dysplasia - enchondromata - ecchondroma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408
Intellectual deficit - short stature - hand contractures - genital anomalies
Prader-Willi habitus - osteopenia - camptodactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409
Gene [OrphaNum:121700 ; Name:Fanconi anemia, complementation group B ; Symbol:FANCB ; xref: GENATLAS:FANCB ; xref: HGNC:3583 ; xref: OMIM:300515 ; xref: UNIPROTKB/SWISSPROT:Q8NB91 ; xref: REACTOME:Q8NB91 ; xref: ENSEMBL:ENSG00000181544]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460
Gene [OrphaNum:244390 ; Name:Scavenger receptor class F, member 2 ; Symbol:SCARF2 ; xref: GENATLAS:SCARF2 ; xref: HGNC:19869 ; xref: OMIM:613619 ; xref: UNIPROTKB/SWISSPROT:Q96GP6 ; xref: ENSEMBL:ENSG00000244486]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3421
Hypogonadism - gynecomastia - X-linked intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3423
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429
Microcephaly - brachydactyly - kyphoscoliosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433
Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434
Gene [OrphaNum:119773 ; Name:Sorting nexin 3 ; Symbol:SNX3 ; xref: GENATLAS:SNX3 ; xref: HGNC:11174 ; xref: OMIM:605930 ; xref: UNIPROTKB/SWISSPROT:O60493 ; xref: ENSEMBL:ENSG00000112335]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Gene [OrphaNum:304263 ; Name:ADAM metallopeptidase with thrombospondin type 1 motif, 17 ; Symbol:ADAMTS17 ; xref: HGNC:17109 ; xref: OMIM:607511 ; xref: GENATLAS:ADAMTS17 ; xref: UNIPROTKB/SWISSPROT:Q8TE56]
Gene [OrphaNum:117773 ; Name:ADAM metallopeptidase with thrombospondin type 1 motif, 10 ; Symbol:ADAMTS10 ; xref: GENATLAS:ADAMTS10 ; xref: HGNC:13201 ; xref: OMIM:608990 ; xref: UNIPROTKB/SWISSPROT:Q9H324 ; xref: ENSEMBL:ENSG00000142303]
Heterozygous otospondylomegaepiphyseal dysplasia
Pierre Robin sequence - fetal chondrodysplasia
Pierre Robin syndrome - fetal chondrodysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3450
Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease
Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome
Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis
Hypoparathyroidism - Addison's disease - mucocutaneous candidosis
Multiple endocrine deficiency - Addison's disease - candidiasis
Multiple endocrine deficiency - Addison's disease - candidosis
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Gene [OrphaNum:119562 ; Name:Autoimmune regulator ; Symbol:AIRE ; xref: ENSEMBL:ENSG00000160224 ; xref: GENATLAS:AIRE ; xref: HGNC:360 ; xref: OMIM:607358 ; xref: UNIPROTKB/SWISSPROT:O43918]
Contractures of feet-muscle atrophy-oculomotor apraxia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454
Gene [OrphaNum:132296 ; Name:Wieacker-Wolff syndrome gene ; Symbol:WWS ; xref: GENATLAS:WWS ; xref: HGNC:12800]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3458
X-linked intellectual deficit - gynecomastia - obesity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3460
Diabetes - hypogonadism - deafness - intellectual deficit
Gene [OrphaNum:171038 ; Name:DDB1 and CUL4 associated factor 17 ; Symbol:DCAF17 ; xref: GENATLAS:C2orf37 ; xref: HGNC:25784 ; xref: OMIM:612515 ; xref: UNIPROTKB/SWISSPROT:Q5H9S7 ; xref: ENSEMBL:ENSG00000115827]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3468
Ocular albinism - late-onset sensorineural deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Cleidocranial dysplasia - micrognathia - absent thumbs
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472
Gingival fibromatosis - hepatosplenomegaly - other anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473
Congenital amegakaryocytic thrombocytopenia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319
prevalence- No data available; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827
X-linked intellectual deficit - epilepsy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
Oro-mandibular-limb hypogenesis syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749
Iris coloboma with ptosis - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570
Short stature - intellectual deficit - eye anomalies - cleft lip/palate
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2649
Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1258
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=489
Brachydactyly - mesomelia - intellectual deficit - heart defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277
Facial dysmorphism - shawl scrotum - joint laxity
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778
Intellectual deficit - short stature - hypertelorism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167
Cholestasis - pigmentary retinopathy - cleft palate
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415
Hirschsprung disease - ganglioneuroblastoma
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2653
Microcephaly - seizures - intellectual deficit - heart disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55
Mandibulofacial dysostosis - deafness - postaxial polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2458
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1434
Adult familial nephronophtisis - spastic quadriparesia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666
Ectopia lentis - chorioretinal dystrophy - myopia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884
Osteogenesis imperfecta - congenital joint contractures
Gene [OrphaNum:117892 ; Name:Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 ; Symbol:PLOD2 ; xref: GENATLAS:PLOD2 ; xref: HGNC:9082 ; xref: OMIM:601865 ; xref: UNIPROTKB/SWISSPROT:O00469 ; xref: ENSEMBL:ENSG00000152952]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771
Umbilical cord ulceration - intestinal atresia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405
Gene [OrphaNum:208345 ; Name:Vaccinia related kinase 1 ; Symbol:VRK1 ; xref: ENSEMBL:ENSG00000100749 ; xref: HGNC:12718 ; xref: OMIM:602168 ; xref: GENATLAS:VRK1 ; xref: UNIPROTKB/SWISSPROT:Q99986]
Gene [OrphaNum:303747 ; Name:Exosome component 3 ; Symbol:EXOSC3 ; xref: UNIPROTKB/SWISSPROT:Q9NQT5 ; xref: HGNC:17944 ; xref: OMIM:606489 ; xref: GENATLAS:EXOSC3]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183
Muscular pseudohypertrophy - hypothyroidism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349
Intellectual deficit, X-linked - plagiocephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898
Progressive non-infectious anterior vertebral fusion
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062
Cleft palate - short stature - vertebral anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015
Cardiomyopathy - maternally inherited deafness
tRNA-LYS-related cardiomyopathy - hearing loss
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349
Macrocephaly - short stature - paraplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427
Atherosclerosis- deafness - diabetes - epilepsy - nephropathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=936
White matter hypoplasia - corpus callosum agenesis - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207
Arachnodactyly - intellectual deficit - dysmorphism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130
Gene [OrphaNum:119297 ; Name:Cyclin-dependent kinase-like 5 ; Symbol:CDKL5 ; xref: HGNC:11411 ; xref: OMIM:300203 ; xref: UNIPROTKB/SWISSPROT:O76039 ; xref: GENATLAS:CDKL5 ; xref: ENSEMBL:ENSG00000008086]
Gene [OrphaNum:179408 ; Name:Netrin G1 ; Symbol:NTNG1 ; xref: HGNC:23319 ; xref: OMIM:608818 ; xref: GENATLAS:NTNG1 ; xref: UNIPROTKB/SWISSPROT:Q9Y2I2 ; xref: ENSEMBL:ENSG00000162631]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- X-linked dominant;
Orofaciodigital syndrome with fibular aplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768
Gene [OrphaNum:138557 ; Name:Vang-like 1 (van gogh, Drosophila) ; Symbol:VANGL1 ; xref: ENSEMBL:ENSG00000173218 ; xref: GENATLAS:VANGL1 ; xref: HGNC:15512 ; xref: OMIM:610132 ; xref: UNIPROTKB/SWISSPROT:Q8TAA9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204
Overgrowth - craniosynostosis - arthrogryposis
Richieri Costa-Guion Almeida-Cohen syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2096
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134
Arthrogryposis - hyperkeratosis, lethal form
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485
Intellectual deficit - sparse hair - brachydactyly
Gene [OrphaNum:292297 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ; Symbol:SMARCA2 ; xref: GENATLAS:SMARCA2 ; xref: UNIPROTKB/SWISSPROT:P51531 ; xref: HGNC:11098 ; xref: OMIM:600014]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051
Bowed tibiae - radial anomalies - osteopenia - fractures
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3331
Brachycephaly - deafness - cataract - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1530
Circumscribed cutaneous aplasia of the vertex
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114
Phocomelia - thrombocytopenia - encephalocele - urogenital malformations
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439
Spinal atrophy - ophthalmoplegia - pyramidal syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217
Hypomyelination neuropathy - arthrogryposis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680
Methylmalonic aciduria - microcephaly - cataract
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=944
Gene [OrphaNum:293103 ; Name:AT rich interactive domain 1A (SWI-like) ; Symbol:ARID1A ; xref: HGNC:11110 ; xref: OMIM:603024 ; xref: GENATLAS:ARID1A ; xref: UNIPROTKB/SWISSPROT:O14497]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1835
Mullerian derivatives - lymphangiectasia - polydactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655
Rhizomelic dysplasia, Patterson-Lowry type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831
Arachnodactyly - abnormal ossification - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383
Infundibulopelvic stenosis - multicystic kidney
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1849
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206
Gene [OrphaNum:123055 ; Name:Leukemia inhibitory factor receptor alpha ; Symbol:LIFR ; xref: GENATLAS:LIFR ; xref: HGNC:6597 ; xref: OMIM:151443 ; xref: UNIPROTKB/SWISSPROT:P42702 ; xref: ENSEMBL:ENSG00000113594]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1844
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2729
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
Gene [OrphaNum:119860 ; Name:Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) ; Symbol:SRD5A2 ; xref: GENATLAS:SRD5A2 ; xref: HGNC:11285 ; xref: OMIM:607306 ; xref: UNIPROTKB/SWISSPROT:P31213 ; xref: REACTOME:P31213 ; xref: ENSEMBL:ENSG00000049319]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753
Gene [OrphaNum:168360 ; Name:Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) ; Symbol:LRAT ; xref: REACTOME:O95237 ; xref: GENATLAS:LRAT ; xref: HGNC:6685 ; xref: OMIM:604863 ; xref: UNIPROTKB/SWISSPROT:O95237 ; xref: ENSEMBL:ENSG00000121207]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65
Gene [OrphaNum:120341 ; Name:Tubby like protein 1 ; Symbol:TULP1 ; xref: GENATLAS:TULP1 ; xref: HGNC:12423 ; xref: OMIM:602280 ; xref: UNIPROTKB/SWISSPROT:O00294 ; xref: ENSEMBL:ENSG00000112041]
Gene [OrphaNum:118250 ; Name:Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) ; Symbol:RDH12 ; xref: GENATLAS:RDH12 ; xref: HGNC:19977 ; xref: OMIM:608830 ; xref: UNIPROTKB/SWISSPROT:Q96NR8 ; xref: ENSEMBL:ENSG00000139988]
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:118246 ; Name:Retinal degeneration 3 ; Symbol:RD3 ; xref: GENATLAS:RD3 ; xref: HGNC:19689 ; xref: OMIM:180040 ; xref: UNIPROTKB/SWISSPROT:Q7Z3Z2 ; xref: ENSEMBL:ENSG00000198570]
Gene [OrphaNum:122649 ; Name:IMP (inosine monophosphate) dehydrogenase 1 ; Symbol:IMPDH1 ; xref: GENATLAS:IMPDH1 ; xref: HGNC:6052 ; xref: OMIM:146690 ; xref: UNIPROTKB/SWISSPROT:P20839 ; xref: REACTOME:P20839 ; xref: ENSEMBL:ENSG00000106348]
Gene [OrphaNum:178826 ; Name:Spermatogenesis associated 7 ; Symbol:SPATA7 ; xref: GENATLAS:SPATA7 ; xref: HGNC:20423 ; xref: OMIM:609868 ; xref: UNIPROTKB/SWISSPROT:Q9P0W8 ; xref: ENSEMBL:ENSG00000042317]
Gene [OrphaNum:118376 ; Name:Retinal pigment epithelium-specific protein 65kDa ; Symbol:RPE65 ; xref: GENATLAS:RPE65 ; xref: HGNC:10294 ; xref: OMIM:180069 ; xref: UNIPROTKB/SWISSPROT:Q16518 ; xref: ENSEMBL:ENSG00000116745]
Gene [OrphaNum:140526 ; Name:Leber congenital amaurosis 5 ; Symbol:LCA5 ; xref: GENATLAS:LCA5 ; xref: HGNC:31923 ; xref: OMIM:611408 ; xref: UNIPROTKB/SWISSPROT:Q86VQ0 ; xref: ENSEMBL:ENSG00000135338]
Gene [OrphaNum:120323 ; Name:Tetratricopeptide repeat domain 8 ; Symbol:TTC8 ; xref: GENATLAS:TTC8 ; xref: HGNC:20087 ; xref: OMIM:608132 ; xref: UNIPROTKB/SWISSPROT:Q8TAM2 ; xref: ENSEMBL:ENSG00000165533]
Gene [OrphaNum:118987 ; Name:Bardet-Biedl syndrome 5 ; Symbol:BBS5 ; xref: GENATLAS:BBS5 ; xref: HGNC:970 ; xref: OMIM:603650 ; xref: UNIPROTKB/SWISSPROT:Q8N3I7 ; xref: ENSEMBL:ENSG00000163093]
Gene [OrphaNum:118982 ; Name:Bardet-Biedl syndrome 2 ; Symbol:BBS2 ; xref: GENATLAS:BBS2 ; xref: HGNC:967 ; xref: OMIM:606151 ; xref: UNIPROTKB/SWISSPROT:Q9BXC9 ; xref: ENSEMBL:ENSG00000125124]
Gene [OrphaNum:118985 ; Name:Bardet-Biedl syndrome 4 ; Symbol:BBS4 ; xref: GENATLAS:BBS4 ; xref: HGNC:969 ; xref: OMIM:600374 ; xref: UNIPROTKB/SWISSPROT:Q96RK4 ; xref: ENSEMBL:ENSG00000140463]
Gene [OrphaNum:118975 ; Name:Bardet-Biedl syndrome 1 ; Symbol:BBS1 ; xref: GENATLAS:BBS1 ; xref: HGNC:966 ; xref: OMIM:209901 ; xref: UNIPROTKB/SWISSPROT:Q8NFJ9 ; xref: ENSEMBL:ENSG00000174483]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Gene [OrphaNum:137646 ; Name:Bardet-Biedl syndrome 12 ; Symbol:BBS12 ; xref: GENATLAS:BBS12 ; xref: HGNC:26648 ; xref: OMIM:610683 ; xref: UNIPROTKB/SWISSPROT:Q6ZW61 ; xref: ENSEMBL:ENSG00000181004]
Gene [OrphaNum:118994 ; Name:Bardet-Biedl syndrome 9 ; Symbol:BBS9 ; xref: GENATLAS:BBS9 ; xref: HGNC:30000 ; xref: OMIM:607968 ; xref: UNIPROTKB/SWISSPROT:Q3SYG4 ; xref: ENSEMBL:ENSG00000122507]
Gene [OrphaNum:303711 ; Name:Leucine zipper transcription factor-like 1 ; Symbol:LZTFL1 ; xref: HGNC:6741 ; xref: OMIM:606568 ; xref: GENATLAS:LZTFL1 ; xref: UNIPROTKB/SWISSPROT:Q9NQ48]
Gene [OrphaNum:121421 ; Name:ADP-ribosylation factor-like 6 ; Symbol:ARL6 ; xref: GENATLAS:ARL6 ; xref: HGNC:13210 ; xref: OMIM:608845 ; xref: UNIPROTKB/SWISSPROT:Q9H0F7 ; xref: ENSEMBL:ENSG00000113966]
Gene [OrphaNum:118990 ; Name:Bardet-Biedl syndrome 7 ; Symbol:BBS7 ; xref: GENATLAS:BBS7 ; xref: HGNC:18758 ; xref: OMIM:607590 ; xref: UNIPROTKB/SWISSPROT:Q8IWZ6 ; xref: ENSEMBL:ENSG00000138686]
Gene [OrphaNum:118978 ; Name:Bardet-Biedl syndrome 10 ; Symbol:BBS10 ; xref: GENATLAS:BBS10 ; xref: HGNC:26291 ; xref: OMIM:610148 ; xref: UNIPROTKB/SWISSPROT:Q8TAM1 ; xref: ENSEMBL:ENSG00000179941]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Hereditary nonpolyposis colorectal cancer
Gene [OrphaNum:123263 ; Name:MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) ; Symbol:MLH1 ; xref: GENATLAS:MLH1 ; xref: HGNC:7127 ; xref: OMIM:120436 ; xref: UNIPROTKB/SWISSPROT:P40692 ; xref: ENSEMBL:ENSG00000076242 ; xref: REACTOME:P40692]
Gene [OrphaNum:117913 ; Name:PMS1 postmeiotic segregation increased 1 (S. cerevisiae) ; Symbol:PMS1 ; xref: GENATLAS:PMS1 ; xref: HGNC:9121 ; xref: OMIM:600258 ; xref: UNIPROTKB/SWISSPROT:P54277 ; xref: ENSEMBL:ENSG00000064933]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144
Gene [OrphaNum:117916 ; Name:PMS2 postmeiotic segregation increased 2 (S. cerevisiae) ; Symbol:PMS2 ; xref: UNIPROTKB/SWISSPROT:P54278 ; xref: GENATLAS:PMS2 ; xref: HGNC:9122 ; xref: OMIM:600259 ; xref: ENSEMBL:ENSG00000122512]
Gene [OrphaNum:123269 ; Name:MutL homolog 3 (E. coli) ; Symbol:MLH3 ; xref: GENATLAS:MLH3 ; xref: HGNC:7128 ; xref: OMIM:604395 ; xref: UNIPROTKB/SWISSPROT:Q9UHC1 ; xref: REACTOME:Q9UHC1 ; xref: ENSEMBL:ENSG00000119684]
Gene [OrphaNum:303004 ; Name:Leucine rich repeat (in FLII) interacting protein 2 ; Symbol:LRRFIP2 ; xref: HGNC:6703 ; xref: OMIM:614043 ; xref: GENATLAS:LRRFIP2 ; xref: UNIPROTKB/SWISSPROT:Q9Y608]
Gene [OrphaNum:123487 ; Name:MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) ; Symbol:MSH2 ; xref: GENATLAS:MSH2 ; xref: HGNC:7325 ; xref: OMIM:609309 ; xref: UNIPROTKB/SWISSPROT:P43246 ; xref: ENSEMBL:ENSG00000095002]
Gene [OrphaNum:123492 ; Name:MutS homolog 6 (E. coli) ; Symbol:MSH6 ; xref: GENATLAS:MSH6 ; xref: HGNC:7329 ; xref: OMIM:600678 ; xref: UNIPROTKB/SWISSPROT:P52701 ; xref: ENSEMBL:ENSG00000116062]
Gene [OrphaNum:121645 ; Name:Exostoses (multiple) 1 ; Symbol:EXT1 ; xref: GENATLAS:EXT1 ; xref: HGNC:3512 ; xref: OMIM:608177 ; xref: UNIPROTKB/SWISSPROT:Q16394 ; xref: ENSEMBL:ENSG00000182197]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Congenital hypogonadotropic hypogonadism with anosmia
Gene [OrphaNum:244406 ; Name:WD repeat domain 11 ; Symbol:WDR11 ; xref: GENATLAS:WDR11 ; xref: HGNC:13831 ; xref: OMIM:606417 ; xref: UNIPROTKB/SWISSPROT:Q9BZH6 ; xref: ENSEMBL:ENSG00000120008]
Gene [OrphaNum:281487 ; Name:Heparan sulfate 6-O-sulfotransferase 1 ; Symbol:HS6ST1 ; xref: ENSEMBL:ENSG00000136720 ; xref: OMIM:604846 ; xref: HGNC:5201 ; xref: GENATLAS:HS6ST1 ; xref: UNIPROTKB/SWISSPROT:O60243]
Gene [OrphaNum:118039 ; Name:Prokineticin 2 ; Symbol:PROK2 ; xref: OMIM:607002 ; xref: UNIPROTKB/SWISSPROT:Q9HC23 ; xref: GENATLAS:PROK2 ; xref: HGNC:18455 ; xref: ENSEMBL:ENSG00000163421 ; xref: REACTOME:Q9HC23]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478
Gene [OrphaNum:123757 ; Name:Nasal embryonic LHRH factor ; Symbol:NELF ; xref: GENATLAS:NELF ; xref: HGNC:29843 ; xref: OMIM:608137 ; xref: UNIPROTKB/SWISSPROT:Q6X4W1 ; xref: ENSEMBL:ENSG00000165802]
Gene [OrphaNum:294689 ; Name:Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A ; Symbol:SEMA3A ; xref: HGNC:10723 ; xref: OMIM:603961 ; xref: GENATLAS:SEMA3A ; xref: UNIPROTKB/SWISSPROT:Q14563]
Gene [OrphaNum:118044 ; Name:Prokineticin receptor 2 ; Symbol:PROKR2 ; xref: GENATLAS:PROKR2 ; xref: HGNC:15836 ; xref: OMIM:607123 ; xref: UNIPROTKB/SWISSPROT:Q8NFJ6 ; xref: ENSEMBL:ENSG00000101292 ; xref: REACTOME:Q8NFJ6 ; xref: IUPHAR:336]
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Inheritance- X-linked recessive;
Gene [OrphaNum:122751 ; Name:Kallmann syndrome 1 sequence ; Symbol:KAL1 ; xref: GENATLAS:KAL1 ; xref: HGNC:6211 ; xref: UNIPROTKB/SWISSPROT:P23352 ; xref: OMIM:300836 ; xref: ENSEMBL:ENSG00000011201]
Gene [OrphaNum:120218 ; Name:Triosephosphate isomerase 1 ; Symbol:TPI1 ; xref: GENATLAS:TPI1 ; xref: HGNC:12009 ; xref: OMIM:190450 ; xref: UNIPROTKB/SWISSPROT:P60174 ; xref: REACTOME:P60174 ; xref: ENSEMBL:ENSG00000111669]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868
Short stature due to growth hormone resistance
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=669
Gene [OrphaNum:119669 ; Name:Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ; Symbol:SLC4A1 ; xref: GENATLAS:SLC4A1 ; xref: HGNC:11027 ; xref: OMIM:109270 ; xref: UNIPROTKB/SWISSPROT:P02730 ; xref: ENSEMBL:ENSG00000004939 ; xref: REACTOME:P02730]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822
Gene [OrphaNum:119849 ; Name:Spectrin, beta, erythrocytic (includes spherocytosis, clinical type I) ; Symbol:SPTB ; xref: GENATLAS:SPTB ; xref: HGNC:11274 ; xref: OMIM:182870 ; xref: UNIPROTKB/SWISSPROT:P11277 ; xref: ENSEMBL:ENSG00000070182 ; xref: REACTOME:P11277]
Gene [OrphaNum:159566 ; Name:Erythrocyte membrane protein band 4.2 ; Symbol:EPB42 ; xref: GENATLAS:EPB42 ; xref: HGNC:3381 ; xref: OMIM:177070 ; xref: UNIPROTKB/SWISSPROT:P16452 ; xref: ENSEMBL:ENSG00000166947]
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
X-linked nonsyndromic intellectual deficit
Nonspecific X-linked intellectual deficit
Gene [OrphaNum:159924 ; Name:Discs, large homolog 3 (neuroendocrine-dlg, Drosophila) ; Symbol:DLG3 ; xref: GENATLAS:DLG3 ; xref: HGNC:2902 ; xref: OMIM:300189 ; xref: UNIPROTKB/SWISSPROT:Q92796 ; xref: ENSEMBL:ENSG00000082458 ; xref: REACTOME:Q92796]
Gene [OrphaNum:159921 ; Name:Angiotensin II receptor, type 2 ; Symbol:AGTR2 ; xref: GENATLAS:AGTR2 ; xref: HGNC:338 ; xref: OMIM:300034 ; xref: UNIPROTKB/SWISSPROT:P50052 ; xref: ENSEMBL:ENSG00000180772 ; xref: REACTOME:P50052 ; xref: IUPHAR:35]
Gene [OrphaNum:159118 ; Name:Zinc finger protein 41 ; Symbol:ZNF41 ; xref: OMIM:314995 ; xref: UNIPROTKB/SWISSPROT:P51814 ; xref: GENATLAS:ZNF41 ; xref: HGNC:13107 ; xref: ENSEMBL:ENSG00000147124 ; xref: REACTOME:P51814]
Gene [OrphaNum:250175 ; Name:Magnesium transporter 1 ; Symbol:MAGT1 ; xref: ENSEMBL:ENSG00000102158 ; xref: GENATLAS:MAGT1 ; xref: HGNC:28880 ; xref: OMIM:300715 ; xref: UNIPROTKB/SWISSPROT:Q9H0U3]
Gene [OrphaNum:159942 ; Name:p21 protein (Cdc42/Rac)-activated kinase 3 ; Symbol:PAK3 ; xref: GENATLAS:PAK3 ; xref: HGNC:8592 ; xref: OMIM:300142 ; xref: UNIPROTKB/SWISSPROT:O75914 ; xref: ENSEMBL:ENSG00000077264 ; xref: REACTOME:O75914]
Gene [OrphaNum:290194 ; Name:Zinc finger protein 711 ; Symbol:ZNF711 ; xref: HGNC:13128 ; xref: OMIM:314990 ; xref: GENATLAS:ZNF711 ; xref: UNIPROTKB/SWISSPROT:Q9Y462 ; xref: ENSEMBL:ENSG00000147180]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked recessive;
Gene [OrphaNum:225332 ; Name:RAB39B, member RAS oncogene family ; Symbol:RAB39B ; xref: ENSEMBL:ENSG00000155961 ; xref: GENATLAS:RAB39B ; xref: HGNC:16499 ; xref: OMIM:300774 ; xref: UNIPROTKB/SWISSPROT:Q96DA2]
Gene [OrphaNum:226044 ; Name:Synaptophysin ; Symbol:SYP ; xref: GENATLAS:SYP ; xref: HGNC:11506 ; xref: UNIPROTKB/SWISSPROT:P08247 ; xref: OMIM:313475 ; xref: ENSEMBL:ENSG00000102003]
Gene [OrphaNum:159373 ; Name:UPF3 regulator of nonsense transcripts homolog B (yeast) ; Symbol:UPF3B ; xref: ENSEMBL:ENSG00000125351 ; xref: REACTOME:Q9BZI7 ; xref: GENATLAS:UPF3B ; xref: HGNC:20439 ; xref: OMIM:300298 ; xref: UNIPROTKB/SWISSPROT:Q9BZI7]
Gene [OrphaNum:122069 ; Name:GDP dissociation inhibitor 1 ; Symbol:GDI1 ; xref: GENATLAS:GDI1 ; xref: HGNC:4226 ; xref: OMIM:300104 ; xref: UNIPROTKB/SWISSPROT:P31150 ; xref: ENSEMBL:ENSG00000203879 ; xref: REACTOME:P31150]
Gene [OrphaNum:122282 ; Name:Glutamate receptor, ionotrophic, AMPA 3 ; Symbol:GRIA3 ; xref: GENATLAS:GRIA3 ; xref: HGNC:4573 ; xref: OMIM:305915 ; xref: UNIPROTKB/SWISSPROT:P42263 ; xref: IUPHAR:446 ; xref: ENSEMBL:ENSG00000125675 ; xref: REACTOME:P42263]
Gene [OrphaNum:168155 ; Name:Tetraspanin 7 ; Symbol:TSPAN7 ; xref: GENATLAS:TSPAN7 ; xref: HGNC:11854 ; xref: OMIM:300096 ; xref: UNIPROTKB/SWISSPROT:P41732 ; xref: ENSEMBL:ENSG00000156298]
Gene [OrphaNum:168335 ; Name:Zinc finger protein 81 ; Symbol:ZNF81 ; xref: GENATLAS:ZNF81 ; xref: HGNC:13156 ; xref: OMIM:314998 ; xref: UNIPROTKB/SWISSPROT:P51508 ; xref: ENSEMBL:ENSG00000197779]
Gene [OrphaNum:159931 ; Name:Interleukin 1 receptor accessory protein-like 1 ; Symbol:IL1RAPL1 ; xref: GENATLAS:IL1RAPL1 ; xref: HGNC:5996 ; xref: OMIM:300206 ; xref: UNIPROTKB/SWISSPROT:Q9NZN1 ; xref: ENSEMBL:ENSG00000169306]
Gene [OrphaNum:168322 ; Name:Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 ; Symbol:ARHGEF6 ; xref: GENATLAS:ARHGEF6 ; xref: HGNC:685 ; xref: OMIM:300267 ; xref: UNIPROTKB/SWISSPROT:Q15052 ; xref: REACTOME:Q15052 ; xref: ENSEMBL:ENSG00000129675]
Gene [OrphaNum:159252 ; Name:Zinc finger protein 674 ; Symbol:ZNF674 ; xref: GENATLAS:ZNF674 ; xref: HGNC:17625 ; xref: OMIM:300573 ; xref: UNIPROTKB/SWISSPROT:Q2M3X9 ; xref: ENSEMBL:ENSG00000251192]
Gene [OrphaNum:232248 ; Name:IQ motif and Sec7 domain 2 ; Symbol:IQSEC2 ; xref: ENSEMBL:ENSG00000124313 ; xref: GENATLAS:IQSEC2 ; xref: HGNC:29059 ; xref: UNIPROTKB/SWISSPROT:Q5JU85 ; xref: OMIM:300522]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777
Gene [OrphaNum:121955 ; Name:FtsJ homolog 1 (E. coli) ; Symbol:FTSJ1 ; xref: GENATLAS:FTSJ1 ; xref: HGNC:13254 ; xref: OMIM:300499 ; xref: UNIPROTKB/SWISSPROT:Q9UET6 ; xref: ENSEMBL:ENSG00000068438]
Hemolytic anemia due to red cell pyruvate kinase deficiency
Pyruvate kinase deficiency of erythrocytes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Gene [OrphaNum:117861 ; Name:Pyruvate kinase, liver and RBC ; Symbol:PKLR ; xref: GENATLAS:PKLR ; xref: HGNC:9020 ; xref: OMIM:609712 ; xref: UNIPROTKB/SWISSPROT:P30613 ; xref: ENSEMBL:ENSG00000143627 ; xref: REACTOME:P30613]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229
Vitamin B12-responsive methylmalonic acidemia
Vitamin B12-responsive methylmalonic aciduria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28
Gene [OrphaNum:121388 ; Name:Apolipoprotein C-II ; Symbol:APOC2 ; xref: GENATLAS:APOC2 ; xref: HGNC:609 ; xref: OMIM:608083 ; xref: UNIPROTKB/SWISSPROT:P02655 ; xref: REACTOME:P02655 ; xref: ENSEMBL:ENSG00000234906]
Gene [OrphaNum:269953 ; Name:lipase maturation factor 1 ; Symbol:LMF1 ; xref: ENSEMBL:ENSG00000103227 ; xref: HGNC:14154 ; xref: OMIM:611761 ; xref: GENATLAS:LMF1 ; xref: UNIPROTKB/SWISSPROT:Q96S06]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412
Familial hyperthyroidism due to mutations in TSH receptor
Resistance to thyroid stimulating hormone
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089
Gene [OrphaNum:122354 ; Name:Glycogen synthase 2 (liver) ; Symbol:GYS2 ; xref: GENATLAS:GYS2 ; xref: HGNC:4707 ; xref: OMIM:138571 ; xref: UNIPROTKB/SWISSPROT:P54840 ; xref: REACTOME:P54840 ; xref: ENSEMBL:ENSG00000111713]
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Sporadic;
Gene [OrphaNum:167875 ; Name:Toll-like receptor 3 ; Symbol:TLR3 ; xref: GENATLAS:TLR3 ; xref: HGNC:11849 ; xref: OMIM:603029 ; xref: UNIPROTKB/SWISSPROT:O15455 ; xref: REACTOME:O15455 ; xref: ENSEMBL:ENSG00000164342]
Gene [OrphaNum:292425 ; Name:TNF receptor-associated factor 3 ; Symbol:TRAF3 ; xref: HGNC:12033 ; xref: OMIM:601896 ; xref: GENATLAS:TRAF3 ; xref: UNIPROTKB/SWISSPROT:Q13114]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930
Gene [OrphaNum:292419 ; Name:Toll-like receptor adaptor molecule 1 ; Symbol:TICAM1 ; xref: HGNC:18348 ; xref: OMIM:607601 ; xref: GENATLAS:TICAM1 ; xref: UNIPROTKB/SWISSPROT:Q8IUC6]
Gene [OrphaNum:120419 ; Name:Unc-93 homolog B1 (C. elegans) ; Symbol:UNC93B1 ; xref: GENATLAS:UNC93B1 ; xref: HGNC:13481 ; xref: OMIM:608204 ; xref: UNIPROTKB/SWISSPROT:Q9H1C4 ; xref: REACTOME:Q9H1C4 ; xref: ENSEMBL:ENSG00000110057]
Hyperimmunoglobulinemia D with periodic fever
Hyperimmunoglobinemia D with recurrent fever
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343
Gene [OrphaNum:123588 ; Name:Mevalonate kinase (mevalonic aciduria) ; Symbol:MVK ; xref: REACTOME:Q03426 ; xref: GENATLAS:MVK ; xref: HGNC:7530 ; xref: OMIM:251170 ; xref: UNIPROTKB/SWISSPROT:Q03426 ; xref: ENSEMBL:ENSG00000110921]
Gene [OrphaNum:121671 ; Name:Coagulation factor II (thrombin) ; Symbol:F2 ; xref: GENATLAS:F2 ; xref: HGNC:3535 ; xref: OMIM:176930 ; xref: UNIPROTKB/SWISSPROT:P00734 ; xref: ENSEMBL:ENSG00000180210 ; xref: REACTOME:P00734]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3324
Immunodeficiency by defective expression of HLA class 2
HLA class 2-negative severe combined immunodeficiency
Gene [OrphaNum:118288 ; Name:Regulatory factor X-associated ankyrin-containing protein ; Symbol:RFXANK ; xref: GENATLAS:RFXANK ; xref: HGNC:9987 ; xref: OMIM:603200 ; xref: UNIPROTKB/SWISSPROT:O14593 ; xref: ENSEMBL:ENSG00000064490]
Gene [OrphaNum:119442 ; Name:Class II, major histocompatibility complex, transactivator ; Symbol:CIITA ; xref: GENATLAS:CIITA ; xref: HGNC:7067 ; xref: OMIM:600005 ; xref: UNIPROTKB/SWISSPROT:P33076 ; xref: REACTOME:P33076 ; xref: ENSEMBL:ENSG00000179583]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572
Gene [OrphaNum:118293 ; Name:Regulatory factor X-associated protein ; Symbol:RFXAP ; xref: GENATLAS:RFXAP ; xref: HGNC:9988 ; xref: OMIM:601861 ; xref: UNIPROTKB/SWISSPROT:O00287 ; xref: ENSEMBL:ENSG00000133111]
Gene [OrphaNum:118286 ; Name:Regulatory factor X, 5 (influences HLA class II expression) ; Symbol:RFX5 ; xref: GENATLAS:RFX5 ; xref: HGNC:9986 ; xref: OMIM:601863 ; xref: UNIPROTKB/SWISSPROT:P48382 ; xref: ENSEMBL:ENSG00000143390]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598
Combined immunodeficiency due to ZAP70 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911
Gene [OrphaNum:120579 ; Name:Zeta-chain (TCR) associated protein kinase 70kDa ; Symbol:ZAP70 ; xref: ENSEMBL:ENSG00000115085 ; xref: GENATLAS:ZAP70 ; xref: HGNC:12858 ; xref: OMIM:176947 ; xref: UNIPROTKB/SWISSPROT:P43403 ; xref: REACTOME:P43403]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621
Mitochondrial trifunctional protein deficiency
Gene [OrphaNum:138233 ; Name:hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase, alpha subunit ; Symbol:HADHA ; xref: GENATLAS:HADHA ; xref: HGNC:4801 ; xref: OMIM:600890 ; xref: UNIPROTKB/SWISSPROT:P40939 ; xref: ENSEMBL:ENSG00000084754 ; xref: REACTOME:P40939]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746
Gene [OrphaNum:138829 ; Name:Hydroxyacyl-Coenzyme A dehydrogenase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit ; Symbol:HADHB ; xref: ENSEMBL:ENSG00000138029 ; xref: REACTOME:P55084 ; xref: GENATLAS:HADHB ; xref: HGNC:4803 ; xref: OMIM:143450 ; xref: UNIPROTKB/SWISSPROT:P55084]
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance;
Gene [OrphaNum:123290 ; Name:Malonyl-CoA decarboxylase ; Symbol:MLYCD ; xref: GENATLAS:MLYCD ; xref: HGNC:7150 ; xref: OMIM:606761 ; xref: UNIPROTKB/SWISSPROT:O95822 ; xref: ENSEMBL:ENSG00000103150]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Gene [OrphaNum:122447 ; Name:3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) ; Symbol:HMGCL ; xref: GENATLAS:HMGCL ; xref: HGNC:5005 ; xref: OMIM:613898 ; xref: UNIPROTKB/SWISSPROT:P35914 ; xref: REACTOME:P35914 ; xref: ENSEMBL:ENSG00000117305]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6
Gene [OrphaNum:123167 ; Name:Methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ; Symbol:MCCC2 ; xref: GENATLAS:MCCC2 ; xref: HGNC:6937 ; xref: OMIM:609014 ; xref: UNIPROTKB/SWISSPROT:Q9HCC0 ; xref: REACTOME:Q9HCC0 ; xref: ENSEMBL:ENSG00000131844]
Gene [OrphaNum:123164 ; Name:Methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ; Symbol:MCCC1 ; xref: GENATLAS:MCCC1 ; xref: HGNC:6936 ; xref: OMIM:609010 ; xref: UNIPROTKB/SWISSPROT:Q96RQ3 ; xref: ENSEMBL:ENSG00000078070 ; xref: REACTOME:Q96RQ3]
Succinyl-CoA acetoacetate transferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832
Gene [OrphaNum:124042 ; Name:3-oxoacid CoA transferase 1 ; Symbol:OXCT1 ; xref: GENATLAS:OXCT1 ; xref: HGNC:8527 ; xref: OMIM:601424 ; xref: UNIPROTKB/SWISSPROT:P55809 ; xref: ENSEMBL:ENSG00000083720 ; xref: REACTOME:P55809]
Gene [OrphaNum:159494 ; Name:Mastermind-like domain containing 1 ; Symbol:MAMLD1 ; xref: ENSEMBL:ENSG00000013619 ; xref: GENATLAS:MAMLD1 ; xref: HGNC:2568 ; xref: OMIM:300120 ; xref: UNIPROTKB/SWISSPROT:Q13495 ; xref: REACTOME:Q13495]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600
Hemolytic anemia due to glucophosphate isomerase deficiency
Gene [OrphaNum:122259 ; Name:Glucose phosphate isomerase ; Symbol:GPI ; xref: GENATLAS:GPI ; xref: HGNC:4458 ; xref: OMIM:172400 ; xref: UNIPROTKB/SWISSPROT:P06744 ; xref: ENSEMBL:ENSG00000105220 ; xref: REACTOME:P06744]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714
Gene [OrphaNum:119064 ; Name:2,3-bisphosphoglycerate mutase ; Symbol:BPGM ; xref: GENATLAS:BPGM ; xref: HGNC:1093 ; xref: UNIPROTKB/SWISSPROT:P07738 ; xref: OMIM:613896 ; xref: ENSEMBL:ENSG00000172331]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056
Gene [OrphaNum:122829 ; Name:Ketohexokinase (fructokinase) ; Symbol:KHK ; xref: GENATLAS:KHK ; xref: HGNC:6315 ; xref: OMIM:614058 ; xref: UNIPROTKB/SWISSPROT:P50053 ; xref: ENSEMBL:ENSG00000138030 ; xref: REACTOME:P50053]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158
Gene [OrphaNum:118781 ; Name:Solute carrier family 22 (organic cation transporter), member 5 ; Symbol:SLC22A5 ; xref: GENATLAS:SLC22A5 ; xref: HGNC:10969 ; xref: OMIM:603377 ; xref: UNIPROTKB/SWISSPROT:O76082 ; xref: REACTOME:O76082 ; xref: ENSEMBL:ENSG00000197375]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636
Benign familial epilepsy of childhood with rolandic spikes
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1637
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Congenital alpha2 antiplasmin deficiency
Gene [OrphaNum:201277 ; Name:Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 ; Symbol:SERPINF2 ; xref: REACTOME:P08697 ; xref: ENSEMBL:ENSG00000167711 ; xref: GENATLAS:SERPINF2 ; xref: HGNC:9075 ; xref: OMIM:613168 ; xref: UNIPROTKB/SWISSPROT:P08697]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Gene [OrphaNum:121665 ; Name:Coagulation factor XIII, A1 polypeptide ; Symbol:F13A1 ; xref: GENATLAS:F13A1 ; xref: HGNC:3531 ; xref: OMIM:134570 ; xref: UNIPROTKB/SWISSPROT:P00488 ; xref: REACTOME:P00488 ; xref: ENSEMBL:ENSG00000124491]
Gene [OrphaNum:121668 ; Name:Coagulation factor XIII, B polypeptide ; Symbol:F13B ; xref: GENATLAS:F13B ; xref: HGNC:3534 ; xref: OMIM:134580 ; xref: UNIPROTKB/SWISSPROT:P05160 ; xref: ENSEMBL:ENSG00000143278 ; xref: REACTOME:P05160]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642
Carnitine-acylcarnitine translocase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159
Gene [OrphaNum:118799 ; Name:Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 ; Symbol:SLC25A20 ; xref: GENATLAS:SLC25A20 ; xref: HGNC:1421 ; xref: OMIM:613698 ; xref: UNIPROTKB/SWISSPROT:O43772 ; xref: REACTOME:O43772 ; xref: ENSEMBL:ENSG00000178537]
Hyperornithinemia - gyrate atrophy of choroid and retina
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414
Gene [OrphaNum:123971 ; Name:Ornithine aminotransferase (gyrate atrophy) ; Symbol:OAT ; xref: GENATLAS:OAT ; xref: HGNC:8091 ; xref: UNIPROTKB/SWISSPROT:P04181 ; xref: OMIM:613349 ; xref: REACTOME:P04181 ; xref: ENSEMBL:ENSG00000065154]
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8
Homocystinuria due to methionine synthase deficiency, CblG type
Gene [OrphaNum:123572 ; Name:5-methyltetrahydrofolate-homocysteine methyltransferase ; Symbol:MTR ; xref: GENATLAS:MTR ; xref: HGNC:7468 ; xref: OMIM:156570 ; xref: UNIPROTKB/SWISSPROT:Q99707 ; xref: ENSEMBL:ENSG00000116984 ; xref: REACTOME:Q99707]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170
Lysine alpha-ketoglutarate reductase deficiency
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203
Gene [OrphaNum:123389 ; Name:Aminoadipate-semialdehyde synthase gene ; Symbol:AASS ; xref: GENATLAS:AASS ; xref: HGNC:17366 ; xref: OMIM:605113 ; xref: UNIPROTKB/SWISSPROT:Q9UDR5 ; xref: ENSEMBL:ENSG00000008311 ; xref: REACTOME:Q9UDR5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157
Gene [OrphaNum:122361 ; Name:Histidine ammonia-lyase ; Symbol:HAL ; xref: GENATLAS:HAL ; xref: HGNC:4806 ; xref: OMIM:609457 ; xref: UNIPROTKB/SWISSPROT:P42357 ; xref: REACTOME:P42357 ; xref: ENSEMBL:ENSG00000084110]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2168
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967
Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Gene [OrphaNum:122099 ; Name:Gastric intrinsic factor (vitamin B synthesis) ; Symbol:GIF ; xref: GENATLAS:GIF ; xref: HGNC:4268 ; xref: OMIM:609342 ; xref: UNIPROTKB/SWISSPROT:P27352 ; xref: ENSEMBL:ENSG00000134812]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941
Gene [OrphaNum:260595 ; Name:glycerate kinase ; Symbol:GLYCTK ; xref: ENSEMBL:ENSG00000168237 ; xref: HGNC:24247 ; xref: OMIM:610516 ; xref: GENATLAS:GLYCTK ; xref: UNIPROTKB/SWISSPROT:Q8IVS8]
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843
Gene [OrphaNum:274023 ; Name:dicarbonyl/L-xylulose reductase ; Symbol:DCXR ; xref: ENSEMBL:ENSG00000169738 ; xref: HGNC:18985 ; xref: OMIM:608347 ; xref: GENATLAS:DCXR ; xref: UNIPROTKB/SWISSPROT:Q7Z4W1]
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212
Gene [OrphaNum:120876 ; Name:Cystathionase (cystathionine gamma-lyase) ; Symbol:CTH ; xref: GENATLAS:CTH ; xref: HGNC:2501 ; xref: OMIM:607657 ; xref: UNIPROTKB/SWISSPROT:P32929 ; xref: ENSEMBL:ENSG00000116761 ; xref: REACTOME:P32929]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null;
Gene [OrphaNum:119709 ; Name:Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 ; Symbol:SLC7A7 ; xref: GENATLAS:SLC7A7 ; xref: HGNC:11065 ; xref: OMIM:603593 ; xref: UNIPROTKB/SWISSPROT:Q9UM01 ; xref: ENSEMBL:ENSG00000155465 ; xref: REACTOME:Q9UM01]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1032
Homocystinuria without methylmalonic acidemia
Functional methionine synthase deficiency
Homocystinuria without methylmalonic aciduria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Hyperammonemia due to N-acetylglutamate synthetase deficiency
Gene [OrphaNum:123675 ; Name:N-acetylglutamate synthase ; Symbol:NAGS ; xref: GENATLAS:NAGS ; xref: HGNC:17996 ; xref: OMIM:608300 ; xref: UNIPROTKB/SWISSPROT:Q8N159 ; xref: ENSEMBL:ENSG00000161653 ; xref: REACTOME:Q8N159]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34
Phosphoenolpyruvate carboxykinase deficiency
Gene [OrphaNum:124123 ; Name:Phosphoenolpyruvate carboxykinase 1 (soluble) ; Symbol:PCK1 ; xref: GENATLAS:PCK1 ; xref: HGNC:8724 ; xref: UNIPROTKB/SWISSPROT:P35558 ; xref: OMIM:614168 ; xref: REACTOME:P35558 ; xref: ENSEMBL:ENSG00000124253]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880
Gene [OrphaNum:124125 ; Name:Phosphoenolpyruvate carboxykinase 2 (mitochondrial) ; Symbol:PCK2 ; xref: GENATLAS:PCK2 ; xref: HGNC:8725 ; xref: UNIPROTKB/SWISSPROT:Q16822 ; xref: OMIM:614095 ; xref: ENSEMBL:ENSG00000100889 ; xref: REACTOME:Q16822]
Gene [OrphaNum:121823 ; Name:Fumarate hydratase ; Symbol:FH ; xref: GENATLAS:FH ; xref: HGNC:3700 ; xref: OMIM:136850 ; xref: UNIPROTKB/SWISSPROT:P07954 ; xref: REACTOME:P07954 ; xref: ENSEMBL:ENSG00000091483]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24
Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
Gene [OrphaNum:201507 ; Name:Succinate dehydrogenase complex assembly factor 1 ; Symbol:SDHAF1 ; xref: ENSEMBL:ENSG00000205138 ; xref: HGNC:33867 ; xref: OMIM:612848 ; xref: UNIPROTKB/SWISSPROT:A6NFY7 ; xref: GENATLAS:SDHAF1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208
Isolated CoQ-cytochrome C reductase deficiency
Isolated coenzyme Q-cytochrome C reductase deficiency
Isolated mitochondrial respiratory chain complex III deficiency
Isolated ubiquinone-cytochrome C reductase deficiency
Gene [OrphaNum:159955 ; Name:Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa ; Symbol:UQCRQ ; xref: GENATLAS:UQCRQ ; xref: HGNC:29594 ; xref: OMIM:612080 ; xref: UNIPROTKB/SWISSPROT:O14949 ; xref: REACTOME:O14949 ; xref: ENSEMBL:ENSG00000164405]
Gene [OrphaNum:166726 ; Name:Ubiquinol-cytochrome c reductase binding protein ; Symbol:UQCRB ; xref: GENATLAS:UQCRB ; xref: HGNC:12582 ; xref: OMIM:191330 ; xref: UNIPROTKB/SWISSPROT:P14927 ; xref: ENSEMBL:ENSG00000156467 ; xref: REACTOME:P14927]
Gene [OrphaNum:260358 ; Name:tetratricopeptide repeat domain 19 ; Symbol:TTC19 ; xref: ENSEMBL:ENSG00000011295 ; xref: HGNC:26006 ; xref: OMIM:613814 ; xref: GENATLAS:TTC19 ; xref: UNIPROTKB/SWISSPROT:Q6DKK2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Gene [OrphaNum:269639 ; Name:alanyl-tRNA synthetase 2, mitochondrial (putative) ; Symbol:AARS2 ; xref: HGNC:21022 ; xref: OMIM:612035 ; xref: GENATLAS:AARS2 ; xref: UNIPROTKB/SWISSPROT:Q5JTZ9 ; xref: ENSEMBL:ENSG00000124608 ; xref: REACTOME:Q5JTZ9]
Gene [OrphaNum:118543 ; Name:SCO cytochrome oxidase deficient homolog 1 (yeast) ; Symbol:SCO1 ; xref: GENATLAS:SCO1 ; xref: HGNC:10603 ; xref: OMIM:603644 ; xref: UNIPROTKB/SWISSPROT:O75880 ; xref: ENSEMBL:ENSG00000133028]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707
Anemia due to adenosine triphosphatase deficiency
prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1044
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851
Gene [OrphaNum:121846 ; Name:Friend leukemia virus integration 1 ; Symbol:FLI1 ; xref: GENATLAS:FLI1 ; xref: HGNC:3749 ; xref: OMIM:193067 ; xref: UNIPROTKB/SWISSPROT:Q01543 ; xref: ENSEMBL:ENSG00000151702]
Gene [OrphaNum:122690 ; Name:Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) ; Symbol:ITGA2B ; xref: GENATLAS:ITGA2B ; xref: HGNC:6138 ; xref: OMIM:607759 ; xref: UNIPROTKB/SWISSPROT:P08514 ; xref: ENSEMBL:ENSG00000005961 ; xref: REACTOME:P08514]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849
Hereditary thrombophilia due to congenital protein C deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745
Gene [OrphaNum:118030 ; Name:Protein C (inactivator of coagulation factors Va and VIIIa) ; Symbol:PROC ; xref: GENATLAS:PROC ; xref: HGNC:9451 ; xref: OMIM:612283 ; xref: UNIPROTKB/SWISSPROT:P04070 ; xref: ENSEMBL:ENSG00000115718 ; xref: REACTOME:P04070]
Hereditary breast and ovarian cancer syndrome
Gene [OrphaNum:119080 ; Name:BRCA1 interacting protein C-terminal helicase 1 ; Symbol:BRIP1 ; xref: GENATLAS:BRIP1 ; xref: HGNC:20473 ; xref: OMIM:605882 ; xref: UNIPROTKB/SWISSPROT:Q9BX63 ; xref: ENSEMBL:ENSG00000136492 ; xref: REACTOME:Q9BX63]
Gene [OrphaNum:201093 ; Name:BRCA1 associated RING domain 1 ; Symbol:BARD1 ; xref: GENATLAS:BARD1 ; xref: HGNC:952 ; xref: OMIM:601593 ; xref: UNIPROTKB/SWISSPROT:Q99728 ; xref: ENSEMBL:ENSG00000138376]
Gene [OrphaNum:297209 ; Name:RAD51 homolog D (S. cerevisiae) ; Symbol:RAD51D ; xref: OMIM:602954 ; xref: UNIPROTKB/SWISSPROT:O75771 ; xref: GENATLAS:RAD51L3 ; xref: HGNC:9823]
Gene [OrphaNum:139189 ; Name:Partner and localizer of BRCA2 ; Symbol:PALB2 ; xref: GENATLAS:PALB2 ; xref: HGNC:26144 ; xref: OMIM:610355 ; xref: UNIPROTKB/SWISSPROT:Q86YC2 ; xref: REACTOME:Q86YC2 ; xref: ENSEMBL:ENSG00000083093]
Gene [OrphaNum:119068 ; Name:Breast cancer 1, early onset ; Symbol:BRCA1 ; xref: GENATLAS:BRCA1 ; xref: HGNC:1100 ; xref: OMIM:113705 ; xref: UNIPROTKB/SWISSPROT:P38398 ; xref: REACTOME:P38398 ; xref: ENSEMBL:ENSG00000012048]
Gene [OrphaNum:229784 ; Name:RAD51 homolog C (S. cerevisiae) ; Symbol:RAD51C ; xref: REACTOME:O43502 ; xref: ENSEMBL:ENSG00000108384 ; xref: HGNC:9820 ; xref: GENATLAS:RAD51C ; xref: OMIM:602774 ; xref: UNIPROTKB/SWISSPROT:O43502]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145
Gene [OrphaNum:119072 ; Name:Breast cancer 2, early onset ; Symbol:BRCA2 ; xref: GENATLAS:BRCA2 ; xref: HGNC:1101 ; xref: OMIM:600185 ; xref: UNIPROTKB/SWISSPROT:P51587 ; xref: REACTOME:P51587 ; xref: ENSEMBL:ENSG00000139618]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578
Gene [OrphaNum:124110 ; Name:Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) ; Symbol:PCBD1 ; xref: GENATLAS:PCBD1 ; xref: HGNC:8646 ; xref: OMIM:126090 ; xref: UNIPROTKB/SWISSPROT:P61457 ; xref: REACTOME:P61457 ; xref: ENSEMBL:ENSG00000166228]
Chronic infantile neurological cutaneous articular syndrome
Infantile Onset Multisystem Inflammatory Disease
Neonatal Onset Multisystem Inflammatory Disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Sporadic;
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745
Gene [OrphaNum:123221 ; Name:Midline 1 (Opitz/BBB syndrome) ; Symbol:MID1 ; xref: GENATLAS:MID1 ; xref: HGNC:7095 ; xref: OMIM:300552 ; xref: UNIPROTKB/SWISSPROT:O15344 ; xref: ENSEMBL:ENSG00000101871]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1864
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038
Idiopathic and/or familial pulmonary arterial hypertension
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422
Gene [OrphaNum:166892 ; Name:Growth differentiation factor 1 ; Symbol:GDF1 ; xref: GENATLAS:GDF1 ; xref: ENSEMBL:ENSG00000130283 ; xref: HGNC:4214 ; xref: OMIM:602880 ; xref: UNIPROTKB/SWISSPROT:P27539 ; xref: REACTOME:P27539]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426
Congenital bronchopulmonary sequestration
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236
Epibronchial right pulmonary artery syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185
Congenitally uncorrected transposition of the great arteries
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860
Gene [OrphaNum:121740 ; Name:Fas ligand (TNF superfamily, member 6) ; Symbol:FASLG ; xref: GENATLAS:FASLG ; xref: HGNC:11936 ; xref: OMIM:134638 ; xref: UNIPROTKB/SWISSPROT:P48023 ; xref: ENSEMBL:ENSG00000117560 ; xref: REACTOME:P48023]
Gene [OrphaNum:119179 ; Name:Caspase 10, apoptosis-related cysteine peptidase ; Symbol:CASP10 ; xref: GENATLAS:CASP10 ; xref: HGNC:1500 ; xref: OMIM:601762 ; xref: UNIPROTKB/SWISSPROT:Q92851 ; xref: ENSEMBL:ENSG00000003400 ; xref: REACTOME:Q92851]
Gene [OrphaNum:121733 ; Name:Fas (TNF receptor superfamily, member 6) ; Symbol:FAS ; xref: GENATLAS:FAS ; xref: HGNC:11920 ; xref: OMIM:134637 ; xref: UNIPROTKB/SWISSPROT:P25445 ; xref: REACTOME:P25445 ; xref: ENSEMBL:ENSG00000026103]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261
An autoimmune hematologic disorder characterized by autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatomegaly and splenomegaly. Patients are at an increased risk of developing Hodgkin and non-Hodgkin lymphomas.
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572
Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849
Gene [OrphaNum:293019 ; Name:DIS3 mitotic control homolog (S. cerevisiae)-like 2 ; Symbol:DIS3L2 ; xref: HGNC:28648 ; xref: UNIPROTKB/SWISSPROT:Q8IYB7 ; xref: GENATLAS:DIS3L2 ; xref: OMIM:614184]
Ehlers-Danlos syndrome, musculocontractural type
Adducted thumbs-arthrogryposis, Dundar type
Ehlers-Danlos syndrome, arthrogryposic type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Gene [OrphaNum:226058 ; Name:Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 ; Symbol:CHST14 ; xref: GENATLAS:CHST14 ; xref: HGNC:24464 ; xref: OMIM:608429 ; xref: UNIPROTKB/SWISSPROT:Q8NCH0 ; xref: ENSEMBL:ENSG00000169105]
Intellectual deficit - polydactyly - uncombable hair
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Syndactyly-polydactyly-ear lobe syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3379
Fumarylacetoacetate hydrolase deficiency
Gene [OrphaNum:121686 ; Name:Fumarylacetoacetate hydrolase (fumarylacetoacetase) ; Symbol:FAH ; xref: GENATLAS:FAH ; xref: HGNC:3579 ; xref: UNIPROTKB/SWISSPROT:P16930 ; xref: OMIM:613871 ; xref: ENSEMBL:ENSG00000103876 ; xref: REACTOME:P16930]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882
Double uterus - hemivagina - renal agenesis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903
Gene [OrphaNum:299636 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class L ; Symbol:PIGL ; xref: HGNC:8966 ; xref: OMIM:605947 ; xref: GENATLAS:PIGL ; xref: UNIPROTKB/SWISSPROT:Q9Y2B2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1260
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361
Gene [OrphaNum:304075 ; Name:Nicotinamide nucleotide transhydrogenase ; Symbol:NNT ; xref: HGNC:7863 ; xref: OMIM:607878 ; xref: GENATLAS:NNT ; xref: UNIPROTKB/SWISSPROT:Q13423]
Gene [OrphaNum:123161 ; Name:Melanocortin 2 receptor (adrenocorticotropic hormone) ; Symbol:MC2R ; xref: GENATLAS:MC2R ; xref: HGNC:6930 ; xref: OMIM:607397 ; xref: UNIPROTKB/SWISSPROT:Q01718 ; xref: IUPHAR:283 ; xref: ENSEMBL:ENSG00000185231 ; xref: REACTOME:Q01718]
Gene [OrphaNum:123478 ; Name:Melanocortin 2 receptor accessory protein ; Symbol:MRAP ; xref: GENATLAS:MRAP ; xref: HGNC:1304 ; xref: OMIM:609196 ; xref: UNIPROTKB/SWISSPROT:Q8TCY5 ; xref: ENSEMBL:ENSG00000170262]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787
Gene [OrphaNum:118828 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 2 ; Symbol:SLC2A2 ; xref: HGNC:11006 ; xref: OMIM:138160 ; xref: UNIPROTKB/SWISSPROT:P11168 ; xref: GENATLAS:SLC2A2 ; xref: ENSEMBL:ENSG00000163581 ; xref: REACTOME:P11168]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088
Central nervous system calcification - deafness - tubular acidosis - anemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283
Catecholaminergic polymorphic ventricular tachycardia
Bidirectional tachycardia induced by catecholamine
Double tachycardia induced by catecholamines
Malignant paroxysmal ventricular tachycardia
Gene [OrphaNum:119182 ; Name:Calsequestrin 2 (cardiac muscle) ; Symbol:CASQ2 ; xref: GENATLAS:CASQ2 ; xref: HGNC:1513 ; xref: OMIM:114251 ; xref: UNIPROTKB/SWISSPROT:O14958 ; xref: ENSEMBL:ENSG00000118729]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286
Gene [OrphaNum:304242 ; Name:Triadin ; Symbol:TRDN ; xref: HGNC:12261 ; xref: OMIM:603283 ; xref: GENATLAS:TRDN ; xref: UNIPROTKB/SWISSPROT:Q13061]
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416
Progressive epilepsy - intellectual deficit, Finnish type
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591
Autosomal recessive medullary cystic kidney disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655
Gene [OrphaNum:209484 ; Name:NIMA (never in mitosis gene a)- related kinase 8 ; Symbol:NEK8 ; xref: ENSEMBL:ENSG00000160602 ; xref: GENATLAS:NEK9 ; xref: HGNC:13387 ; xref: OMIM:609799 ; xref: UNIPROTKB/SWISSPROT:Q86SG6]
Gene [OrphaNum:227083 ; Name:X-prolyl aminopeptidase (aminopeptidase P) 3, putative ; Symbol:XPNPEP3 ; xref: OMIM:613553 ; xref: HGNC:28052 ; xref: UNIPROTKB/SWISSPROT:Q9NQH7 ; xref: ENSEMBL:ENSG00000196236]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352
Familial idiopathic steroid-resistant nephrotic syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407
Gene [OrphaNum:121352 ; Name:Aminomethyltransferase ; Symbol:AMT ; xref: GENATLAS:AMT ; xref: HGNC:473 ; xref: OMIM:238310 ; xref: UNIPROTKB/SWISSPROT:P48728 ; xref: ENSEMBL:ENSG00000145020]
Gene [OrphaNum:122062 ; Name:Glycine cleavage system protein H (aminomethyl carrier) ; Symbol:GCSH ; xref: GENATLAS:GCSH ; xref: HGNC:4208 ; xref: OMIM:238330 ; xref: UNIPROTKB/SWISSPROT:P23434 ; xref: ENSEMBL:ENSG00000140905]
Gene [OrphaNum:122160 ; Name:Glycine dehydrogenase (decarboxylating) ; Symbol:GLDC ; xref: GENATLAS:GLDC ; xref: HGNC:4313 ; xref: OMIM:238300 ; xref: UNIPROTKB/SWISSPROT:P23378 ; xref: ENSEMBL:ENSG00000178445]
Gene [OrphaNum:124115 ; Name:Propionyl Coenzyme A carboxylase, alpha polypeptide ; Symbol:PCCA ; xref: GENATLAS:PCCA ; xref: HGNC:8653 ; xref: OMIM:232000 ; xref: UNIPROTKB/SWISSPROT:P05165 ; xref: ENSEMBL:ENSG00000175198 ; xref: REACTOME:P05165]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35
Gene [OrphaNum:124117 ; Name:Propionyl Coenzyme A carboxylase, beta polypeptide ; Symbol:PCCB ; xref: GENATLAS:PCCB ; xref: HGNC:8654 ; xref: OMIM:232050 ; xref: UNIPROTKB/SWISSPROT:P05166 ; xref: ENSEMBL:ENSG00000114054 ; xref: REACTOME:P05166]
Maternally-inherited progressive external ophthalmoplegia
Maternally-inherited chronic progressive external ophthalmoplegia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive;
Gene [OrphaNum:119306 ; Name:Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) ; Symbol:CDKN2A ; xref: GENATLAS:CDKN2A ; xref: HGNC:1787 ; xref: OMIM:600160 ; xref: UNIPROTKB/SWISSPROT:Q8N726 ; xref: ENSEMBL:ENSG00000147889]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618
Gene [OrphaNum:119289 ; Name:Cyclin-dependent kinase 4 ; Symbol:CDK4 ; xref: GENATLAS:CDK4 ; xref: HGNC:1773 ; xref: OMIM:123829 ; xref: UNIPROTKB/SWISSPROT:P11802 ; xref: ENSEMBL:ENSG00000135446 ; xref: REACTOME:P11802]
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309
Gene [OrphaNum:120509 ; Name:WD repeat domain 36 ; Symbol:WDR36 ; xref: ENSEMBL:ENSG00000134987 ; xref: GENATLAS:WDR36 ; xref: HGNC:30696 ; xref: OMIM:609669 ; xref: UNIPROTKB/SWISSPROT:Q8NI36]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=359
Gene [OrphaNum:122045 ; Name:Glutaryl-Coenzyme A dehydrogenase ; Symbol:GCDH ; xref: GENATLAS:GCDH ; xref: HGNC:4189 ; xref: OMIM:608801 ; xref: UNIPROTKB/SWISSPROT:Q92947 ; xref: ENSEMBL:ENSG00000105607 ; xref: REACTOME:Q92947]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85
Gene [OrphaNum:124219 ; Name:Peroxisomal biogenesis factor 7 ; Symbol:PEX7 ; xref: GENATLAS:PEX7 ; xref: HGNC:8860 ; xref: OMIM:601757 ; xref: UNIPROTKB/SWISSPROT:O00628 ; xref: ENSEMBL:ENSG00000112357]
Gene [OrphaNum:122211 ; Name:Glyceronephosphate O-acyltransferase ; Symbol:GNPAT ; xref: ENSEMBL:ENSG00000116906 ; xref: GENATLAS:GNPAT ; xref: HGNC:4416 ; xref: OMIM:602744 ; xref: UNIPROTKB/SWISSPROT:O15228 ; xref: REACTOME:O15228]
Gene [OrphaNum:119528 ; Name:Alkylglycerone phosphate synthase ; Symbol:AGPS ; xref: GENATLAS:AGPS ; xref: HGNC:327 ; xref: OMIM:603051 ; xref: UNIPROTKB/SWISSPROT:O00116 ; xref: REACTOME:O00116 ; xref: ENSEMBL:ENSG00000018510]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive;
Glycogen storage disease due to phosphorylase kinase deficiency
GSD due to phosphorylase kinase deficiency
Glycogen storage disease due to PhK deficiency
Glycogenosis due to phosphorylase kinase deficiency
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370
Medium chain acyl-CoA dehydrogenase deficiency
Gene [OrphaNum:117700 ; Name:Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ; Symbol:ACADM ; xref: GENATLAS:ACADM ; xref: HGNC:89 ; xref: OMIM:607008 ; xref: UNIPROTKB/SWISSPROT:P11310 ; xref: REACTOME:P11310 ; xref: ENSEMBL:ENSG00000117054]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=299
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364
Gene [OrphaNum:124229 ; Name:Phosphoglucomutase 1 ; Symbol:PGM1 ; xref: GENATLAS:PGM1 ; xref: HGNC:8905 ; xref: OMIM:171900 ; xref: UNIPROTKB/SWISSPROT:P36871 ; xref: REACTOME:P36871 ; xref: ENSEMBL:ENSG00000079739]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=711
7-dehydrocholesterol reductase deficiency
Gene [OrphaNum:121066 ; Name:7-dehydrocholesterol reductase ; Symbol:DHCR7 ; xref: GENATLAS:DHCR7 ; xref: HGNC:2860 ; xref: OMIM:602858 ; xref: UNIPROTKB/SWISSPROT:Q9UBM7 ; xref: REACTOME:Q9UBM7 ; xref: ENSEMBL:ENSG00000172893]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Gamma aminobutyric acid transaminase deficiency
Gene [OrphaNum:117617 ; Name:4-aminobutyrate aminotransferase ; Symbol:ABAT ; xref: UNIPROTKB/SWISSPROT:P80404 ; xref: GENATLAS:ABAT ; xref: HGNC:23 ; xref: OMIM:137150 ; xref: ENSEMBL:ENSG00000183044 ; xref: REACTOME:P80404]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300
Neurodegeneration with brain iron accumulation
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Gene [OrphaNum:118609 ; Name:Serpin peptidase inhibitor, clade C (antithrombin), member 1 ; Symbol:SERPINC1 ; xref: GENATLAS:SERPINC1 ; xref: HGNC:775 ; xref: OMIM:107300 ; xref: UNIPROTKB/SWISSPROT:P01008 ; xref: ENSEMBL:ENSG00000117601 ; xref: REACTOME:P01008]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596
Gene [OrphaNum:119379 ; Name:Complement factor properdin ; Symbol:CFP ; xref: GENATLAS:CFP ; xref: HGNC:8864 ; xref: OMIM:300383 ; xref: UNIPROTKB/SWISSPROT:P27918 ; xref: ENSEMBL:ENSG00000126759 ; xref: REACTOME:P27918]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2966
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347
Benign chronic familial pemphigus of Hailey-Hailey
Gene [OrphaNum:118849 ; Name:ATPase, Ca++ transporting, type 2C, member 1 ; Symbol:ATP2C1 ; xref: GENATLAS:ATP2C1 ; xref: HGNC:13211 ; xref: OMIM:604384 ; xref: UNIPROTKB/SWISSPROT:P98194 ; xref: REACTOME:P98194 ; xref: ENSEMBL:ENSG00000017260]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841
Gene [OrphaNum:118861 ; Name:ATPase, H+ transporting, lysosomal V0 subunit a4 ; Symbol:ATP6V0A4 ; xref: GENATLAS:ATP6V0A4 ; xref: HGNC:866 ; xref: OMIM:605239 ; xref: UNIPROTKB/SWISSPROT:Q9HBG4 ; xref: ENSEMBL:ENSG00000105929 ; xref: REACTOME:Q9HBG4]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18
Gene [OrphaNum:118872 ; Name:ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness) ; Symbol:ATP6V1B1 ; xref: GENATLAS:ATP6V1B1 ; xref: HGNC:853 ; xref: OMIM:192132 ; xref: UNIPROTKB/SWISSPROT:P15313 ; xref: ENSEMBL:ENSG00000116039 ; xref: REACTOME:P15313]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197
Gene [OrphaNum:168172 ; Name:Adenylate cyclase 10 (soluble) ; Symbol:ADCY10 ; xref: GENATLAS:ADCY10 ; xref: HGNC:21285 ; xref: OMIM:605205 ; xref: UNIPROTKB/SWISSPROT:Q96PN6 ; xref: ENSEMBL:ENSG00000143199]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309
prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1866
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596
Gene [OrphaNum:123531 ; Name:Myotubularin 1 ; Symbol:MTM1 ; xref: GENATLAS:MTM1 ; xref: HGNC:7448 ; xref: OMIM:300415 ; xref: UNIPROTKB/SWISSPROT:Q13496 ; xref: ENSEMBL:ENSG00000171100]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576
Early-onset generalized torsion dystonia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256
X-linked diffuse leiomyomatosis - Alport syndrome
Gene [OrphaNum:120726 ; Name:Collagen, type IV, alpha 6 ; Symbol:COL4A6 ; xref: GENATLAS:COL4A6 ; xref: HGNC:2208 ; xref: OMIM:303631 ; xref: UNIPROTKB/SWISSPROT:Q14031 ; xref: ENSEMBL:ENSG00000197565]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306
Gene [OrphaNum:122808 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 2 ; Symbol:KCNQ2 ; xref: GENATLAS:KCNQ2 ; xref: HGNC:6296 ; xref: OMIM:602235 ; xref: UNIPROTKB/SWISSPROT:O43526 ; xref: IUPHAR:561 ; xref: ENSEMBL:ENSG00000075043 ; xref: REACTOME:O43526]
Gene [OrphaNum:121658 ; Name:Coagulation factor X ; Symbol:F10 ; xref: GENATLAS:F10 ; xref: HGNC:3528 ; xref: OMIM:613872 ; xref: UNIPROTKB/SWISSPROT:P00742 ; xref: REACTOME:P00742 ; xref: ENSEMBL:ENSG00000126218]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288
Gene [OrphaNum:121563 ; Name:Erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) ; Symbol:EPB41 ; xref: GENATLAS:EPB41 ; xref: HGNC:3377 ; xref: OMIM:130500 ; xref: UNIPROTKB/SWISSPROT:P11171 ; xref: ENSEMBL:ENSG00000159023]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203
Gene [OrphaNum:303176 ; Name:Piezo-type mechanosensitive ion channel component 1 ; Symbol:PIEZO1 ; xref: UNIPROTKB/SWISSPROT:Q92508 ; xref: HGNC:28993 ; xref: OMIM:611184 ; xref: GENATLAS:FAM38A]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1544
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2385
Childhood ataxia with diffuse central nervous system hypomyelination
Leukoencephalopathy with vanishing white matter
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
Gene [OrphaNum:291742 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa ; Symbol:NDUFA9 ; xref: UNIPROTKB/SWISSPROT:Q16795 ; xref: HGNC:7693 ; xref: OMIM:603834 ; xref: GENATLAS:NDUFA9 ; xref: ENSEMBL:ENSG00000139180]
Gene [OrphaNum:299657 ; Name:Mitochondrial methionyl-tRNA formyltransferase ; Symbol:MTFMT ; xref: HGNC:29666 ; xref: OMIM:611766 ; xref: GENATLAS:MTFMT ; xref: UNIPROTKB/SWISSPROT:Q96DP5]
Gene [OrphaNum:244371 ; Name:Nucleotide binding protein-like ; Symbol:NUBPL ; xref: HGNC:20278 ; xref: GENATLAS:NUBPL ; xref: OMIM:613621 ; xref: UNIPROTKB/SWISSPROT:Q8TB37 ; xref: ENSEMBL:ENSG00000151413]
Gene [OrphaNum:123747 ; Name:NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa ; Symbol:NDUFV2 ; xref: GENATLAS:NDUFV2 ; xref: HGNC:7717 ; xref: OMIM:600532 ; xref: UNIPROTKB/SWISSPROT:P19404 ; xref: ENSEMBL:ENSG00000178127 ; xref: REACTOME:P19404]
Gene [OrphaNum:123723 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 ; Symbol:NDUFAF2 ; xref: GENATLAS:NDUFAF2 ; xref: HGNC:28086 ; xref: OMIM:609653 ; xref: UNIPROTKB/SWISSPROT:Q8N183 ; xref: ENSEMBL:ENSG00000164182]
Gene [OrphaNum:123729 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS2 ; xref: GENATLAS:NDUFS2 ; xref: HGNC:7708 ; xref: OMIM:602985 ; xref: UNIPROTKB/SWISSPROT:O75306 ; xref: REACTOME:O75306 ; xref: ENSEMBL:ENSG00000158864]
Gene [OrphaNum:201531 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 ; Symbol:NDUFAF3 ; xref: HGNC:29918 ; xref: OMIM:612911 ; xref: UNIPROTKB/SWISSPROT:Q9BU61 ; xref: ENSEMBL:ENSG00000178057 ; xref: GENATLAS:NDUFAF3]
Gene [OrphaNum:183907 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa ; Symbol:NDUFA11 ; xref: ENSEMBL:ENSG00000174886 ; xref: REACTOME:Q86Y39 ; xref: GENATLAS:NDUFA11 ; xref: HGNC:20371 ; xref: OMIM:612638 ; xref: UNIPROTKB/SWISSPROT:Q86Y39]
Gene [OrphaNum:169395 ; Name:Chromosome 20 open reading frame 7 ; Symbol:C20ORF7 ; xref: ENSEMBL:ENSG00000101247 ; xref: GENATLAS:C20ORF7 ; xref: HGNC:15899 ; xref: OMIM:612360 ; xref: UNIPROTKB/SWISSPROT:Q5TEU4]
Gene [OrphaNum:139187 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa ; Symbol:NDUFA1 ; xref: GENATLAS:NDUFA1 ; xref: HGNC:7683 ; xref: OMIM:300078 ; xref: UNIPROTKB/SWISSPROT:O15239 ; xref: REACTOME:O15239 ; xref: ENSEMBL:ENSG00000125356]
Gene [OrphaNum:166690 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 ; Symbol:NDUFAF4 ; xref: HGNC:21034 ; xref: OMIM:611776 ; xref: UNIPROTKB/SWISSPROT:Q9P032 ; xref: GENATLAS:NDUFAF4 ; xref: ENSEMBL:ENSG00000123545]
Gene [OrphaNum:244375 ; Name:FAD-dependent oxidoreductase domain containing 1 ; Symbol:FOXRED1 ; xref: GENATLAS:FOXRED1 ; xref: HGNC:26927 ; xref: OMIM:613622 ; xref: UNIPROTKB/SWISSPROT:Q96CU9 ; xref: ENSEMBL:ENSG00000110074]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609
Gene [OrphaNum:123736 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS6 ; xref: GENATLAS:NDUFS6 ; xref: HGNC:7713 ; xref: OMIM:603848 ; xref: UNIPROTKB/SWISSPROT:O75380 ; xref: ENSEMBL:ENSG00000145494 ; xref: REACTOME:O75380]
Gene [OrphaNum:292321 ; Name:NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa ; Symbol:NDUFB3 ; xref: HGNC:7698 ; xref: OMIM:603839 ; xref: GENATLAS:NDUFB3 ; xref: UNIPROTKB/SWISSPROT:O43676]
Gene [OrphaNum:292027 ; Name:NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa ; Symbol:NDUFB9 ; xref: HGNC:7704 ; xref: OMIM:601445 ; xref: GENATLAS:NDUFB9 ; xref: UNIPROTKB/SWISSPROT:Q9Y6M9 ; xref: ENSEMBL:ENSG00000147684]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781
Gene [OrphaNum:118998 ; Name:Butyrylcholinesterase ; Symbol:BCHE ; xref: GENATLAS:BCHE ; xref: HGNC:983 ; xref: OMIM:177400 ; xref: UNIPROTKB/SWISSPROT:P06276 ; xref: REACTOME:P06276 ; xref: ENSEMBL:ENSG00000114200]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333
Gene [OrphaNum:121424 ; Name:Mesencephalic astrocyte-derived neurotrophic factor ; Symbol:MANF ; xref: HGNC:15461 ; xref: GENATLAS:MANF ; xref: OMIM:601916 ; xref: UNIPROTKB/SWISSPROT:P55145 ; xref: ENSEMBL:ENSG00000145050]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3280
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542
Gene [OrphaNum:265147 ; Name:protease, serine, 56 ; Symbol:PRSS56 ; xref: HGNC:39433 ; xref: OMIM:613858 ; xref: UNIPROTKB/SWISSPROT:P0CW18]
Gene [OrphaNum:160006 ; Name:Retina and anterior neural fold homeobox ; Symbol:RAX ; xref: GENATLAS:RAX ; xref: HGNC:18662 ; xref: OMIM:601881 ; xref: UNIPROTKB/SWISSPROT:Q9Y2V3 ; xref: ENSEMBL:ENSG00000134438]
Megalencephalic leukoencephalopathy with subcortical cysts
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Gene [OrphaNum:264482 ; Name:hepatic and glial cell adhesion molecule ; Symbol:HEPACAM ; xref: ENSEMBL:ENSG00000165478 ; xref: HGNC:26361 ; xref: OMIM:611642 ; xref: GENATLAS:HEPACAM ; xref: UNIPROTKB/SWISSPROT:Q14CZ8]
Gene [OrphaNum:123257 ; Name:Megalencephalic leukoencephalopathy with subcortical cysts 1 ; Symbol:MLC1 ; xref: HGNC:17082 ; xref: OMIM:605908 ; xref: UNIPROTKB/SWISSPROT:Q15049 ; xref: GENATLAS:MLC1 ; xref: ENSEMBL:ENSG00000100427]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260
Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
Renal Fanconi syndrome with nephrocalcinosis and renal stones
X-linked recessive hypercalciuric hypophosphatemic rickets
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652
Congenital osteogenesis imperfecta - microcephaly - cataracts
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772
Hyperkaliemia - hypertension, Gordon type
Mineralocorticoid resistant hyperkalemia
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223
Gene [OrphaNum:121410 ; Name:Aquaporin 2 (collecting duct) ; Symbol:AQP2 ; xref: GENATLAS:AQP2 ; xref: HGNC:634 ; xref: OMIM:107777 ; xref: UNIPROTKB/SWISSPROT:P41181 ; xref: REACTOME:P41181 ; xref: ENSEMBL:ENSG00000167580]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758
Gene [OrphaNum:118032 ; Name:Proline dehydrogenase (oxidase) 1 ; Symbol:PRODH ; xref: GENATLAS:PRODH ; xref: HGNC:9453 ; xref: OMIM:606810 ; xref: UNIPROTKB/SWISSPROT:O43272 ; xref: REACTOME:O43272 ; xref: ENSEMBL:ENSG00000100033]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796
Gene [OrphaNum:122404 ; Name:Hexosaminidase B (beta polypeptide) ; Symbol:HEXB ; xref: GENATLAS:HEXB ; xref: ENSEMBL:ENSG00000049860 ; xref: HGNC:4879 ; xref: OMIM:606873 ; xref: UNIPROTKB/SWISSPROT:P07686 ; xref: REACTOME:P07686]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive;
Hereditary motor and sensory neuropathy type 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773
Gene [OrphaNum:117810 ; Name:Phytanoyl-CoA 2-hydroxylase ; Symbol:PHYH ; xref: GENATLAS:PHYH ; xref: HGNC:8940 ; xref: OMIM:602026 ; xref: UNIPROTKB/SWISSPROT:O14832 ; xref: ENSEMBL:ENSG00000107537 ; xref: REACTOME:O14832]
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic;
Gene [OrphaNum:123205 ; Name:Microfibrillar-associated protein 4 ; Symbol:MFAP4 ; xref: GENATLAS:MFAP4 ; xref: HGNC:7035 ; xref: OMIM:600596 ; xref: UNIPROTKB/SWISSPROT:P55083 ; xref: ENSEMBL:ENSG00000166482]
Gene [OrphaNum:121850 ; Name:Flightless I homolog (Drosophila) ; Symbol:FLII ; xref: GENATLAS:FLII ; xref: HGNC:3750 ; xref: OMIM:600362 ; xref: UNIPROTKB/SWISSPROT:Q13045 ; xref: ENSEMBL:ENSG00000177731]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614
Gene [OrphaNum:123102 ; Name:LIM homeobox transcription factor 1, beta ; Symbol:LMX1B ; xref: GENATLAS:LMX1B ; xref: HGNC:6654 ; xref: OMIM:602575 ; xref: UNIPROTKB/SWISSPROT:O60663 ; xref: ENSEMBL:ENSG00000136944]
Gene [OrphaNum:121790 ; Name:FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia) ; Symbol:FGD1 ; xref: GENATLAS:FGD1 ; xref: HGNC:3663 ; xref: OMIM:300546 ; xref: UNIPROTKB/SWISSPROT:P98174 ; xref: ENSEMBL:ENSG00000102302 ; xref: REACTOME:P98174]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=924
Isovaleric acid CoA dehydrogenase deficiency
Gene [OrphaNum:122716 ; Name:Isovaleryl Coenzyme A dehydrogenase ; Symbol:IVD ; xref: GENATLAS:IVD ; xref: HGNC:6186 ; xref: OMIM:607036 ; xref: UNIPROTKB/SWISSPROT:P26440 ; xref: REACTOME:P26440 ; xref: ENSEMBL:ENSG00000128928]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Gene [OrphaNum:122352 ; Name:Glucuronidase, beta ; Symbol:GUSB ; xref: OMIM:611499 ; xref: GENATLAS:GUSB ; xref: HGNC:4696 ; xref: UNIPROTKB/SWISSPROT:P08236 ; xref: ENSEMBL:ENSG00000169919]
Succinic semialdehyde dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22
Gene [OrphaNum:119592 ; Name:Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) ; Symbol:ALDH5A1 ; xref: REACTOME:P51649 ; xref: GENATLAS:ALDH5A1 ; xref: HGNC:408 ; xref: OMIM:610045 ; xref: UNIPROTKB/SWISSPROT:P51649 ; xref: ENSEMBL:ENSG00000112294]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29
Uridine monophosphate synthetase deficiency
Gene [OrphaNum:120414 ; Name:Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) ; Symbol:UMPS ; xref: ENSEMBL:ENSG00000114491 ; xref: REACTOME:P11172 ; xref: GENATLAS:UMPS ; xref: HGNC:12563 ; xref: UNIPROTKB/SWISSPROT:P11172 ; xref: OMIM:613891]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, hypermobile type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos syndrome, oculoscoliotic type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900
Ehlers-Danlos syndrome, arthrochalasic type
Ehlers-Danlos syndrome, arthrochalasia type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899
Ehlers-Danlos syndrome, dermatosparaxis type
Gene [OrphaNum:117780 ; Name:ADAM metallopeptidase with thrombospondin type 1 motif, 2 ; Symbol:ADAMTS2 ; xref: GENATLAS:ADAMTS2 ; xref: HGNC:218 ; xref: OMIM:604539 ; xref: UNIPROTKB/SWISSPROT:O95450 ; xref: ENSEMBL:ENSG00000087116]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901
Epidermolysis bullosa simplex - limb girdle muscular dystrophy
Limb girdle dystrophy with epidermolysis bullosa simplex
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257
Congenital nephrotic syndrome, Finnish type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531
Gene [OrphaNum:122417 ; Name:Hypermethylated in cancer 1 ; Symbol:HIC1 ; xref: GENATLAS:HIC1 ; xref: HGNC:4909 ; xref: OMIM:603825 ; xref: UNIPROTKB/SWISSPROT:Q14526 ; xref: ENSEMBL:ENSG00000177374]
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies
X-linked lissencephaly with ambiguous genitalia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452
Isolated lissencephaly type 1 without known genetic defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083
Gene [OrphaNum:281616 ; Name:NudE nuclear distribution gene E homolog 1 (A. nidulans) ; Symbol:NDE1 ; xref: HGNC:17619 ; xref: OMIM:609449 ; xref: GENATLAS:NDE1 ; xref: UNIPROTKB/SWISSPROT:Q9NXR1 ; xref: ENSEMBL:ENSG00000072864 ; xref: REACTOME:Q9NXR1]
Mandibulofacial dysostosis with preaxial limb anomalies
Gene [OrphaNum:302925 ; Name:Splicing factor 3b, subunit 4, 49kDa ; Symbol:SF3B4 ; xref: HGNC:10771 ; xref: OMIM:605593 ; xref: GENATLAS:SF3B4 ; xref: UNIPROTKB/SWISSPROT:Q15427]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963
Gene [OrphaNum:119872 ; Name:Somatostatin receptor 5 ; Symbol:SSTR5 ; xref: GENATLAS:SSTR5 ; xref: HGNC:11334 ; xref: OMIM:182455 ; xref: UNIPROTKB/SWISSPROT:P35346 ; xref: IUPHAR:359 ; xref: ENSEMBL:ENSG00000162009 ; xref: REACTOME:P35346]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44
Gene [OrphaNum:122408 ; Name:Homogentisate 1,2-dioxygenase (homogentisate oxidase) ; Symbol:HGD ; xref: ENSEMBL:ENSG00000113924 ; xref: GENATLAS:HGD ; xref: HGNC:4892 ; xref: OMIM:607474 ; xref: UNIPROTKB/SWISSPROT:Q93099 ; xref: REACTOME:Q93099]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006
Lethal hemolytic anemia - genital anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059
Aniridia - cerebellar ataxia - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065
Gene [OrphaNum:121415 ; Name:Arginase, liver ; Symbol:ARG1 ; xref: GENATLAS:ARG1 ; xref: HGNC:663 ; xref: OMIM:608313 ; xref: UNIPROTKB/SWISSPROT:P05089 ; xref: REACTOME:P05089 ; xref: ENSEMBL:ENSG00000118520]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90
Arrhinia - choanal atresia - microphthalmia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1135
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Gene [OrphaNum:119888 ; Name:Steroid sulfatase (microsomal), isozyme S ; Symbol:STS ; xref: REACTOME:P08842 ; xref: GENATLAS:STS ; xref: HGNC:11425 ; xref: OMIM:300747 ; xref: UNIPROTKB/SWISSPROT:P08842 ; xref: ENSEMBL:ENSG00000101846]
Neurogenic arthrogryposis multiplex congenita
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146
Gene [OrphaNum:227077 ; Name:Myosin binding protein C, slow type ; Symbol:MYBPC1 ; xref: GENATLAS:MYBPC1 ; xref: HGNC:7549 ; xref: OMIM:160794 ; xref: UNIPROTKB/SWISSPROT:Q00872 ; xref: ENSEMBL:ENSG00000196091 ; xref: REACTOME:Q00872]
Gene [OrphaNum:123617 ; Name:Myosin, heavy chain 3, skeletal muscle, embryonic ; Symbol:MYH3 ; xref: GENATLAS:MYH3 ; xref: HGNC:7573 ; xref: OMIM:160720 ; xref: UNIPROTKB/SWISSPROT:P11055 ; xref: ENSEMBL:ENSG00000109063 ; xref: REACTOME:P11055]
Gene [OrphaNum:120192 ; Name:Troponin T type 3 (skeletal, fast) ; Symbol:TNNT3 ; xref: ENSEMBL:ENSG00000130595 ; xref: GENATLAS:TNNT3 ; xref: HGNC:11950 ; xref: OMIM:600692 ; xref: UNIPROTKB/SWISSPROT:P45378 ; xref: REACTOME:P45378]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147
Gene [OrphaNum:120182 ; Name:Troponin I type 2 (skeletal, fast) ; Symbol:TNNI2 ; xref: ENSEMBL:ENSG00000130598 ; xref: REACTOME:P48788 ; xref: GENATLAS:TNNI2 ; xref: HGNC:11946 ; xref: OMIM:191043 ; xref: UNIPROTKB/SWISSPROT:P48788]
Arthrogryposis multiplex congenita - lissencephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1152
Arthrogryposis - ophthalmoplegia - retinopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154
Arthrogryposis due to muscular dystrophy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1155
Congenital hypoplastic anemia, Blackfan-Diamond type
Gene [OrphaNum:171052 ; Name:Ribosomal protein L5 ; Symbol:RPL5 ; xref: GENATLAS:RPL5 ; xref: HGNC:10360 ; xref: OMIM:603634 ; xref: UNIPROTKB/SWISSPROT:P46777 ; xref: REACTOME:P46777 ; xref: ENSEMBL:ENSG00000122406]
Gene [OrphaNum:171055 ; Name:Ribosomal protein L11 ; Symbol:RPL11 ; xref: GENATLAS:RPL11 ; xref: HGNC:10301 ; xref: OMIM:604175 ; xref: UNIPROTKB/SWISSPROT:P62913 ; xref: ENSEMBL:ENSG00000142676 ; xref: REACTOME:P62913]
Gene [OrphaNum:171050 ; Name:Ribosomal protein S7 ; Symbol:RPS7 ; xref: ENSEMBL:ENSG00000171863 ; xref: GENATLAS:RPS7 ; xref: HGNC:10440 ; xref: OMIM:603658 ; xref: UNIPROTKB/SWISSPROT:P62081 ; xref: REACTOME:P62081]
Gene [OrphaNum:171057 ; Name:Ribosomal protein L35a ; Symbol:RPL35A ; xref: GENATLAS:RPL35A ; xref: HGNC:10345 ; xref: OMIM:180468 ; xref: UNIPROTKB/SWISSPROT:P18077 ; xref: REACTOME:P18077 ; xref: ENSEMBL:ENSG00000182899]
Gene [OrphaNum:225337 ; Name:Ribosomal protein S26 ; Symbol:RPS26 ; xref: ENSEMBL:ENSG00000197728 ; xref: REACTOME:P62854 ; xref: GENATLAS:RPS26 ; xref: HGNC:10414 ; xref: OMIM:603701 ; xref: UNIPROTKB/SWISSPROT:P62854]
Gene [OrphaNum:118403 ; Name:Ribosomal protein S24 ; Symbol:RPS24 ; xref: GENATLAS:RPS24 ; xref: HGNC:10411 ; xref: OMIM:602412 ; xref: UNIPROTKB/SWISSPROT:P62847 ; xref: ENSEMBL:ENSG00000138326 ; xref: REACTOME:P62847]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Gene [OrphaNum:158382 ; Name:Ribosomal protein S17 ; Symbol:RPS17 ; xref: REACTOME:P08708 ; xref: GENATLAS:RPS17 ; xref: HGNC:10397 ; xref: OMIM:180472 ; xref: UNIPROTKB/SWISSPROT:P08708 ; xref: ENSEMBL:ENSG00000184779]
Gene [OrphaNum:225334 ; Name:Ribosomal protein S10 ; Symbol:RPS10 ; xref: ENSEMBL:ENSG00000124614 ; xref: REACTOME:P46783 ; xref: GENATLAS:RPS10 ; xref: HGNC:10383 ; xref: OMIM:603632 ; xref: UNIPROTKB/SWISSPROT:P46783]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124
Gene [OrphaNum:118400 ; Name:Ribosomal protein S19 ; Symbol:RPS19 ; xref: GENATLAS:RPS19 ; xref: HGNC:10402 ; xref: OMIM:603474 ; xref: UNIPROTKB/SWISSPROT:P39019 ; xref: REACTOME:P39019 ; xref: ENSEMBL:ENSG00000105372]
Gene [OrphaNum:123406 ; Name:Bloom syndrome gene ; Symbol:BLM ; xref: GENATLAS:BLM ; xref: HGNC:1058 ; xref: OMIM:604610 ; xref: UNIPROTKB/SWISSPROT:P54132 ; xref: ENSEMBL:ENSG00000197299 ; xref: REACTOME:P54132]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310
Gene [OrphaNum:266117 ; Name:interleukin 17F ; Symbol:IL17F ; xref: ENSEMBL:ENSG00000112116 ; xref: HGNC:16404 ; xref: OMIM:606496 ; xref: GENATLAS:IL17F ; xref: UNIPROTKB/SWISSPROT:Q96PD4]
Gene [OrphaNum:225286 ; Name:Caspase recruitment domain family, member 9 ; Symbol:CARD9 ; xref: ENSEMBL:ENSG00000187796 ; xref: REACTOME:Q9H257 ; xref: GENATLAS:CARD9 ; xref: HGNC:16391 ; xref: OMIM:607212 ; xref: UNIPROTKB/SWISSPROT:Q9H257]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334
Gene [OrphaNum:159725 ; Name:Intercellular adhesion molecule 1 ; Symbol:ICAM1 ; xref: GENATLAS:ICAM ; xref: HGNC:5344 ; xref: OMIM:147840 ; xref: UNIPROTKB/SWISSPROT:P05362 ; xref: ENSEMBL:ENSG00000090339 ; xref: REACTOME:P05362]
Gene [OrphaNum:266109 ; Name:interleukin 17 receptor A ; Symbol:IL17RA ; xref: HGNC:5985 ; xref: ENSEMBL:ENSG00000177663 ; xref: GENATLAS:IL17RA ; xref: UNIPROTKB/SWISSPROT:Q96F46 ; xref: OMIM:605461]
Gene [OrphaNum:119879 ; Name:Signal transducer and activator of transcription 1, 91kDa ; Symbol:STAT1 ; xref: GENATLAS:STAT1 ; xref: HGNC:11362 ; xref: OMIM:600555 ; xref: UNIPROTKB/SWISSPROT:P42224 ; xref: ENSEMBL:ENSG00000115415 ; xref: REACTOME:P42224]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Gene [OrphaNum:225288 ; Name:C-type lectin domain family 7, member A ; Symbol:CLEC7A ; xref: ENSEMBL:ENSG00000172243 ; xref: GENATLAS:CLEC7A ; xref: HGNC:14558 ; xref: OMIM:606264 ; xref: UNIPROTKB/SWISSPROT:Q9BXN2]
Gene [OrphaNum:286552 ; Name:Acylglycerol kinase ; Symbol:AGK ; xref: HGNC:21869 ; xref: OMIM:610345 ; xref: GENATLAS:AGK ; xref: UNIPROTKB/SWISSPROT:Q53H12 ; xref: ENSEMBL:ENSG00000006530]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452
Gene [OrphaNum:118429 ; Name:Runt-related transcription factor 2 ; Symbol:RUNX2 ; xref: ENSEMBL:ENSG00000124813 ; xref: GENATLAS:RUNX2 ; xref: HGNC:10472 ; xref: OMIM:600211 ; xref: UNIPROTKB/SWISSPROT:Q13950 ; xref: REACTOME:Q13950]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193
Aural atresia - multiple congenital anomalies - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496
Gene [OrphaNum:118742 ; Name:Solute carrier family 12 (potassium/chloride transporters), member 6 ; Symbol:SLC12A6 ; xref: GENATLAS:SLC12A6 ; xref: HGNC:10914 ; xref: OMIM:604878 ; xref: UNIPROTKB/SWISSPROT:Q9UHW9 ; xref: ENSEMBL:ENSG00000140199 ; xref: REACTOME:Q9UHW9]
Gene [OrphaNum:121965 ; Name:Frataxin ; Symbol:FXN ; xref: GENATLAS:FXN ; xref: HGNC:3951 ; xref: OMIM:606829 ; xref: UNIPROTKB/SWISSPROT:Q16595 ; xref: ENSEMBL:ENSG00000165060 ; xref: REACTOME:Q16595]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Craniosynostosis - Dandy-Walker - hydrocephalus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243
Plasma thromboplastin antecedent deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329
Gene [OrphaNum:121660 ; Name:Coagulation factor XI (plasma thromboplastin antecedent) ; Symbol:F11 ; xref: GENATLAS:F11 ; xref: HGNC:3529 ; xref: OMIM:264900 ; xref: UNIPROTKB/SWISSPROT:P03951 ; xref: ENSEMBL:ENSG00000088926 ; xref: REACTOME:P03951]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Gene [OrphaNum:120618 ; Name:Zic family member 4 ; Symbol:ZIC4 ; xref: ENSEMBL:ENSG00000174963 ; xref: GENATLAS:ZIC4 ; xref: HGNC:20393 ; xref: OMIM:608948 ; xref: UNIPROTKB/SWISSPROT:Q8N9L1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217
Gene [OrphaNum:120606 ; Name:Zic family member 1 (odd-paired homolog, Drosophila) ; Symbol:ZIC1 ; xref: ENSEMBL:ENSG00000152977 ; xref: GENATLAS:ZIC1 ; xref: HGNC:12872 ; xref: OMIM:600470 ; xref: UNIPROTKB/SWISSPROT:Q15915]
Hyperphenylalaninemia due to dihydropteridine reductase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226
Gene [OrphaNum:118184 ; Name:Quinoid dihydropteridine reductase ; Symbol:QDPR ; xref: GENATLAS:QDPR ; xref: HGNC:9752 ; xref: UNIPROTKB/SWISSPROT:P09417 ; xref: OMIM:612676 ; xref: REACTOME:P09417 ; xref: ENSEMBL:ENSG00000151552]
Adenosine monophosphate deaminase deficiency
Gene [OrphaNum:121350 ; Name:Adenosine monophosphate deaminase (isoform E) ; Symbol:AMPD3 ; xref: GENATLAS:AMPD3 ; xref: HGNC:470 ; xref: OMIM:102772 ; xref: UNIPROTKB/SWISSPROT:Q01432 ; xref: ENSEMBL:ENSG00000133805 ; xref: REACTOME:Q01432]
Gene [OrphaNum:121344 ; Name:Adenosine monophosphate deaminase 1 (isoform M) ; Symbol:AMPD1 ; xref: GENATLAS:AMPD1 ; xref: HGNC:468 ; xref: OMIM:102770 ; xref: UNIPROTKB/SWISSPROT:P23109 ; xref: REACTOME:P23109 ; xref: ENSEMBL:ENSG00000116748]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23
Gene [OrphaNum:121455 ; Name:Argininosuccinate lyase ; Symbol:ASL ; xref: ENSEMBL:ENSG00000126522 ; xref: GENATLAS:ASL ; xref: HGNC:746 ; xref: OMIM:608310 ; xref: UNIPROTKB/SWISSPROT:P04424 ; xref: REACTOME:P04424]
Carbamoylphosphate synthetase deficiency
Carbamoyl phosphate synthetase 1 deficiency
Gene [OrphaNum:120788 ; Name:Carbamoyl-phosphate synthetase 1, mitochondrial ; Symbol:CPS1 ; xref: ENSEMBL:ENSG00000021826 ; xref: GENATLAS:CPS1 ; xref: HGNC:2323 ; xref: OMIM:608307 ; xref: UNIPROTKB/SWISSPROT:P31327 ; xref: REACTOME:P31327]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408
Homocystinuria due to methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency
Gene [OrphaNum:123529 ; Name:5,10-methylenetetrahydrofolate reductase (NADPH) ; Symbol:MTHFR ; xref: REACTOME:P42898 ; xref: GENATLAS:MTHFR ; xref: HGNC:7436 ; xref: OMIM:607093 ; xref: UNIPROTKB/SWISSPROT:P42898 ; xref: ENSEMBL:ENSG00000177000]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395
Pyruvate dehydrogenase complex deficiency
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765
Encephalopathy due to sulfite oxidase deficiency
Combined deficiency of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase
Sulphite oxidase deficiency due to molybdenum cofactor deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239
Hereditary sensory and autonomic neuropathy type 3
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764
Gene [OrphaNum:122607 ; Name:Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein ; Symbol:IKBKAP ; xref: ENSEMBL:ENSG00000070061 ; xref: GENATLAS:IKBKAP ; xref: HGNC:5959 ; xref: OMIM:603722 ; xref: UNIPROTKB/SWISSPROT:O95163]
Gonadal dysgenesis, XY type - associated anomalies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770
Gene [OrphaNum:205594 ; Name:NHP2 ribonucleoprotein homolog (yeast) ; Symbol:NHP2 ; xref: ENSEMBL:ENSG00000145912 ; xref: REACTOME:Q9NX24 ; xref: OMIM:606470 ; xref: GENATLAS:NHP2 ; xref: HGNC:14377 ; xref: UNIPROTKB/SWISSPROT:Q9NX24]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Gene [OrphaNum:159137 ; Name:NOP10 ribonucleoprotein homolog (yeast) ; Symbol:NOP10 ; xref: ENSEMBL:ENSG00000182117 ; xref: GENATLAS:NOP10 ; xref: HGNC:14378 ; xref: OMIM:606471 ; xref: UNIPROTKB/SWISSPROT:Q9NPE3]
Gene [OrphaNum:266162 ; Name:WD repeat containing, antisense to TP53 ; Symbol:WRAP53 ; xref: ENSEMBL:ENSG00000141499 ; xref: HGNC:25522 ; xref: OMIM:612661 ; xref: GENATLAS:WRAP53 ; xref: GENATLAS:Q9BUR4]
Gene [OrphaNum:138457 ; Name:Telomerase RNA component ; Symbol:TERC ; xref: ENSEMBL:ENSG00000200182 ; xref: GENATLAS:TERC ; xref: HGNC:11727 ; xref: OMIM:602322]
Gene [OrphaNum:140050 ; Name:TERF1 (TRF1)-interacting nuclear factor 2 ; Symbol:TINF2 ; xref: REACTOME:Q9BSI4 ; xref: GENATLAS:TINF2 ; xref: HGNC:11824 ; xref: OMIM:604319 ; xref: UNIPROTKB/SWISSPROT:Q9BSI4 ; xref: ENSEMBL:ENSG00000092330]
Gene [OrphaNum:138451 ; Name:Telomerase reverse transcriptase ; Symbol:TERT ; xref: REACTOME:O14746 ; xref: GENATLAS:TERT ; xref: HGNC:11730 ; xref: OMIM:187270 ; xref: UNIPROTKB/SWISSPROT:O14746 ; xref: ENSEMBL:ENSG00000164362]
Acrofacial dysostosis, Genee-Wiedmann type
Mandibulfacial dysostosis with postaxial limb anomalies
Gene [OrphaNum:225386 ; Name:Dihydroorotate dehydrogenase ; Symbol:DHODH ; xref: REACTOME:Q02127 ; xref: ENSEMBL:ENSG00000102967 ; xref: GENATLAS:DHODH ; xref: HGNC:2867 ; xref: OMIM:126064 ; xref: UNIPROTKB/SWISSPROT:Q02127]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:178791 ; Name:ADAMTS-like 4 ; Symbol:ADAMTSL4 ; xref: UNIPROTKB/SWISSPROT:Q6UY14 ; xref: ENSEMBL:ENSG00000143382 ; xref: GENATLAS:ADAMTSL4 ; xref: HGNC:19706 ; xref: OMIM:610113]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Young adult; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial encephalomyopathy - aminoacidopathy
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Mitochondrial inheritance;
Gene [OrphaNum:119894 ; Name:Succinate-CoA ligase, ADP-forming, beta subunit ; Symbol:SUCLA2 ; xref: GENATLAS:SUCLA2 ; xref: HGNC:11448 ; xref: OMIM:603921 ; xref: UNIPROTKB/SWISSPROT:Q9P2R7 ; xref: ENSEMBL:ENSG00000136143 ; xref: REACTOME:Q9P2R7]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933
Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2005
Congenital fiber-type disproportion myopathy
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053
Neuraminidase deficiency with beta-galactosidase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351
Gene [OrphaNum:120888 ; Name:Cathepsin A ; Symbol:CTSA ; xref: GENATLAS:CTSA ; xref: HGNC:9251 ; xref: UNIPROTKB/SWISSPROT:P10619 ; xref: OMIM:613111 ; xref: ENSEMBL:ENSG00000064601 ; xref: REACTOME:P10619]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=374
Gene [OrphaNum:119513 ; Name:Aspartylglucosaminidase ; Symbol:AGA ; xref: ENSEMBL:ENSG00000038002 ; xref: GENATLAS:AGA ; xref: HGNC:318 ; xref: OMIM:613228 ; xref: UNIPROTKB/SWISSPROT:P20933]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846
Gene [OrphaNum:119908 ; Name:T, brachyury homolog (mouse) ; Symbol:T ; xref: GENATLAS:T ; xref: HGNC:11515 ; xref: OMIM:601397 ; xref: UNIPROTKB/SWISSPROT:O15178 ; xref: ENSEMBL:ENSG00000164458]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446
Mastocytosis - short stature - hearing loss
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135
Neonatal severe primary hyperparathyroidism
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848
Hypogonadism - mitral valve prolapse - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2270
Familial intestinal polyatresia syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300
Gene [OrphaNum:293034 ; Name:CXADR-like membrane protein ; Symbol:CLMP ; xref: GENATLAS:ASAM ; xref: HGNC:24039 ; xref: OMIM:611693 ; xref: UNIPROTKB/SWISSPROT:Q9H6B4]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301
Hereditary fructose-1-phosphate aldolase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469
Gene [OrphaNum:119601 ; Name:Aldolase B, fructose-bisphosphate ; Symbol:ALDOB ; xref: GENATLAS:ALDOB ; xref: HGNC:417 ; xref: UNIPROTKB/SWISSPROT:P05062 ; xref: OMIM:612724 ; xref: REACTOME:P05062 ; xref: ENSEMBL:ENSG00000136872]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308
Joubert syndrome with Senior-Loken syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318
Gene [OrphaNum:292990 ; Name:Transmembrane protein 138 ; Symbol:TMEM138 ; xref: HGNC:26944 ; xref: OMIM:614459 ; xref: GENATLAS:TMEM138 ; xref: UNIPROTKB/SWISSPROT:Q9NPI0]
Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2343
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502
Larsen-like osseous dysplasia - short stature
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377
Infantile subacute necrotizing encephalopathy
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2431
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505
Congenital pulmonary airway malformation of the lung
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Intellectual deficit - aphasia - shuffling gait - adducted thumb
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570
Multiple keratoacanthoma, Muir-Torre type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=587
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant;
Gene [OrphaNum:120657 ; Name:CCHC-type zinc finger, nucleic acid binding protein ; Symbol:CNBP ; xref: ENSEMBL:ENSG00000169714 ; xref: GENATLAS:CNBP ; xref: HGNC:13164 ; xref: OMIM:116955 ; xref: UNIPROTKB/SWISSPROT:P62633]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Any age;
Severe dystrophinopathy, Duchenne and Becker type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262
Horizontal gaze palsy with progressive scoliosis
Progressive external ophthalmoplegia and scoliosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744
Gene [OrphaNum:118352 ; Name:Roundabout, axon guidance receptor, homolog 3 (Drosophila) ; Symbol:ROBO3 ; xref: GENATLAS:ROBO3 ; xref: HGNC:13433 ; xref: OMIM:608630 ; xref: UNIPROTKB/SWISSPROT:Q96MS0 ; xref: ENSEMBL:ENSG00000154134 ; xref: REACTOME:Q96MS0]
Dihydrolipoamide dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746
Non-rhizomelic chondrodysplasia punctata
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686
Gene [OrphaNum:121511 ; Name:Elastase, neutrophil expressed ; Symbol:ELANE ; xref: HGNC:3309 ; xref: OMIM:130130 ; xref: GENATLAS:ELANE ; xref: UNIPROTKB/SWISSPROT:P08246 ; xref: ENSEMBL:ENSG00000197561 ; xref: REACTOME:P08246]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811
Gene [OrphaNum:118476 ; Name:Shwachman-Bodian-Diamond syndrome ; Symbol:SBDS ; xref: GENATLAS:SBDS ; xref: HGNC:19440 ; xref: OMIM:607444 ; xref: UNIPROTKB/SWISSPROT:Q9Y3A5 ; xref: ENSEMBL:ENSG00000126524]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207
46,XX testicular disorder of sex development
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393
Osteopetrosis with renal tubular acidosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785
Gene [OrphaNum:119117 ; Name:Carbonic anhydrase II ; Symbol:CA2 ; xref: GENATLAS:CA2 ; xref: HGNC:1373 ; xref: OMIM:259730 ; xref: UNIPROTKB/SWISSPROT:P00918 ; xref: ENSEMBL:ENSG00000104267]
Hyperostosid corticalis deformans juvenilis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801
Gene [OrphaNum:120164 ; Name:Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ; Symbol:TNFRSF11B ; xref: GENATLAS:TNFRSF11B ; xref: HGNC:11909 ; xref: OMIM:602643 ; xref: UNIPROTKB/SWISSPROT:O00300 ; xref: ENSEMBL:ENSG00000164761]
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705
Gene [OrphaNum:231422 ; Name:Forkhead box I1 ; Symbol:FOXI1 ; xref: ENSEMBL:ENSG00000168269 ; xref: GENATLAS:FOXI1 ; xref: HGNC:3815 ; xref: UNIPROTKB/SWISSPROT:Q12951 ; xref: OMIM:601093]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718
Gene [OrphaNum:121839 ; Name:Folliculin ; Symbol:FLCN ; xref: HGNC:27310 ; xref: OMIM:607273 ; xref: UNIPROTKB/SWISSPROT:Q8NFG4 ; xref: GENATLAS:FLCN ; xref: ENSEMBL:ENSG00000154803]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903
Partial gigantism - nevi - hemihypertrophy - macrocephaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744
Gene [OrphaNum:281472 ; Name:V-akt murine thymoma viral oncogene homolog 1 ; Symbol:AKT1 ; xref: ENSEMBL:ENSG00000142208 ; xref: REACTOME:P31749 ; xref: HGNC:391 ; xref: OMIM:164730 ; xref: GENATLAS:AKT1 ; xref: UNIPROTKB/SWISSPROT:P31749]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970
Gene [OrphaNum:299148 ; Name:Cholinergic receptor, muscarinic 3 ; Symbol:CHRM3 ; xref: HGNC:1952 ; xref: OMIM:118494 ; xref: GENATLAS:CHRM3 ; xref: UNIPROTKB/SWISSPROT:P20309]
Gene [OrphaNum:117738 ; Name:Acyl-Coenzyme A oxidase 1, palmitoyl ; Symbol:ACOX1 ; xref: GENATLAS:ACOX1 ; xref: HGNC:119 ; xref: OMIM:609751 ; xref: UNIPROTKB/SWISSPROT:Q15067 ; xref: ENSEMBL:ENSG00000161533 ; xref: REACTOME:Q15067]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2981
Disorder of sex development - intellectual deficit
Pseudohermaphroditism - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763
Gene [OrphaNum:120897 ; Name:Cathepsin K ; Symbol:CTSK ; xref: GENATLAS:CTSK ; xref: HGNC:2536 ; xref: OMIM:601105 ; xref: UNIPROTKB/SWISSPROT:P43235 ; xref: REACTOME:P43235 ; xref: ENSEMBL:ENSG00000143387]
Intellectual deficit - nasal papillomata
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071
Gene [OrphaNum:122499 ; Name:V-Ha-ras Harvey rat sarcoma viral oncogene homolog ; Symbol:HRAS ; xref: GENATLAS:HRAS ; xref: HGNC:5173 ; xref: OMIM:190020 ; xref: UNIPROTKB/SWISSPROT:P01112 ; xref: REACTOME:P01112 ; xref: ENSEMBL:ENSG00000174775]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834
Gene [OrphaNum:118753 ; Name:Solute carrier family 17 (anion/sugar transporter), member 5 ; Symbol:SLC17A5 ; xref: GENATLAS:SLC17A5 ; xref: HGNC:10933 ; xref: OMIM:604322 ; xref: UNIPROTKB/SWISSPROT:Q9NRA2 ; xref: ENSEMBL:ENSG00000119899 ; xref: REACTOME:Q9NRA2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3135
Gene [OrphaNum:121529 ; Name:Empty spiracles homeobox 2 ; Symbol:EMX2 ; xref: GENATLAS:EMX2 ; xref: HGNC:3341 ; xref: OMIM:600035 ; xref: UNIPROTKB/SWISSPROT:Q04743 ; xref: ENSEMBL:ENSG00000170370]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799
Schizophrenia - intellectual deficit - deafness - retinitis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3141
Multiple sclerosis - ichthyosis - factor VIII deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169
Fatty acid alcohol oxidoreductase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816
Gene [OrphaNum:119583 ; Name:Aldehyde dehydrogenase 3 family, member A2 ; Symbol:ALDH3A2 ; xref: GENATLAS:ALDH3A2 ; xref: HGNC:403 ; xref: OMIM:609523 ; xref: UNIPROTKB/SWISSPROT:P51648 ; xref: ENSEMBL:ENSG00000072210]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320
Gene [OrphaNum:296697 ; Name:RNA binding motif protein 8A ; Symbol:RBM8A ; xref: HGNC:9905 ; xref: OMIM:605313 ; xref: GENATLAS:RBM8A ; xref: UNIPROTKB/SWISSPROT:Q9Y5S9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346
Gene [OrphaNum:119113 ; Name:M-phase specific PLK1 interacting protein ; Symbol:MPLKIP ; xref: GENATLAS:C7orf11 ; xref: HGNC:16002 ; xref: OMIM:609188 ; xref: UNIPROTKB/SWISSPROT:Q8TAP9 ; xref: ENSEMBL:ENSG00000168303]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1245
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585
Gene [OrphaNum:119899 ; Name:Sulfatase modifying factor 1 ; Symbol:SUMF1 ; xref: OMIM:607939 ; xref: UNIPROTKB/SWISSPROT:Q8NBK3 ; xref: GENATLAS:SUMF1 ; xref: HGNC:20376 ; xref: ENSEMBL:ENSG00000144455]
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3390
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Microcephalic osteodysplastic primordial short stature type 2
Gene [OrphaNum:159181 ; Name:Pericentrin ; Symbol:PCNT ; xref: GENATLAS:PCNT ; xref: HGNC:16068 ; xref: OMIM:605925 ; xref: UNIPROTKB/SWISSPROT:O95613 ; xref: ENSEMBL:ENSG00000160299 ; xref: REACTOME:O95613]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887
Camptodactyly - overgrowth - unusual facies
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447
Gene [OrphaNum:291819 ; Name:Enhancer of zeste homolog 2 (Drosophila) ; Symbol:EZH2 ; xref: HGNC:3527 ; xref: OMIM:601573 ; xref: GENATLAS:EZH2 ; xref: UNIPROTKB/SWISSPROT:Q15910 ; xref: ENSEMBL:ENSG00000106462]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909
Gene [OrphaNum:120989 ; Name:Cytochrome P450, family 27, subfamily A, polypeptide 1 ; Symbol:CYP27A1 ; xref: GENATLAS:CYP27A1 ; xref: HGNC:2605 ; xref: OMIM:606530 ; xref: UNIPROTKB/SWISSPROT:Q02318 ; xref: REACTOME:Q02318 ; xref: ENSEMBL:ENSG00000135929]
Chondrodysplasia - disorder of sex development
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422
Gene [OrphaNum:159773 ; Name:Mitochondrially encoded ATP synthase 8 ; Symbol:MT-ATP8 ; xref: GENATLAS:MT-ATP8 ; xref: HGNC:7415 ; xref: OMIM:516070 ; xref: UNIPROTKB/SWISSPROT:P03928 ; xref: ENSEMBL:ENSG00000229604 ; xref: REACTOME:P03928]
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287
Gene [OrphaNum:121930 ; Name:FSHD region gene 1 ; Symbol:FRG1 ; xref: GENATLAS:FRG1 ; xref: HGNC:3954 ; xref: OMIM:601278 ; xref: UNIPROTKB/SWISSPROT:Q14331 ; xref: ENSEMBL:ENSG00000109536]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269
Gene [OrphaNum:121239 ; Name:Double homeobox, 4 ; Symbol:DUX4 ; xref: ENSEMBL:ENSG00000258389 ; xref: GENATLAS:DUX4 ; xref: HGNC:3082 ; xref: OMIM:606009 ; xref: UNIPROTKB/SWISSPROT:Q9UBX2]
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54
Gene [OrphaNum:122263 ; Name:G protein-coupled receptor 143 ; Symbol:GPR143 ; xref: GENATLAS:GPR143 ; xref: HGNC:20145 ; xref: OMIM:300808 ; xref: UNIPROTKB/SWISSPROT:P51810 ; xref: IUPHAR:203 ; xref: ENSEMBL:ENSG00000101850]
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Gene [OrphaNum:138906 ; Name:Mitochondrially encoded tRNA glutamine ; Symbol:MT-TQ ; xref: OMIM:590030 ; xref: GENATLAS:MT-TQ ; xref: HGNC:7495]
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Inheritance- Sporadic;
Gene [OrphaNum:167909 ; Name:Mitochondrially encoded tRNA phenylalanine ; Symbol:MT-TF ; xref: GENATLAS:MT-TF ; xref: HGNC:7481 ; xref: OMIM:590070]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant;
Early-onset autosomal dominant Alzheimer disease
Early-onset familial autosomal dominant Alzheimer disease
Gene [OrphaNum:118105 ; Name:Presenilin 2 (Alzheimer disease 4) ; Symbol:PSEN2 ; xref: GENATLAS:PSEN2 ; xref: HGNC:9509 ; xref: OMIM:600759 ; xref: UNIPROTKB/SWISSPROT:P49810 ; xref: REACTOME:P49810 ; xref: ENSEMBL:ENSG00000143801]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70
Gene [OrphaNum:121726 ; Name:Fanconi anemia, complementation group L ; Symbol:FANCL ; xref: GENATLAS:FANCL ; xref: HGNC:20748 ; xref: OMIM:608111 ; xref: UNIPROTKB/SWISSPROT:Q9NW38 ; xref: ENSEMBL:ENSG00000115392 ; xref: REACTOME:Q9NW38]
Gene [OrphaNum:121709 ; Name:Fanconi anemia, complementation group D2 ; Symbol:FANCD2 ; xref: GENATLAS:FANCD2 ; xref: HGNC:3585 ; xref: OMIM:613984 ; xref: UNIPROTKB/SWISSPROT:Q9BXW9 ; xref: REACTOME:Q9BXW9 ; xref: ENSEMBL:ENSG00000144554]
Gene [OrphaNum:121719 ; Name:Fanconi anemia, complementation group F ; Symbol:FANCF ; xref: UNIPROTKB/SWISSPROT:Q9NPI8 ; xref: OMIM:613897 ; xref: GENATLAS:FANCF ; xref: HGNC:3587 ; xref: ENSEMBL:ENSG00000183161 ; xref: REACTOME:Q9NPI8]
Gene [OrphaNum:121705 ; Name:Fanconi anemia, complementation group C ; Symbol:FANCC ; xref: GENATLAS:FANCC ; xref: HGNC:3584 ; xref: UNIPROTKB/SWISSPROT:Q00597 ; xref: OMIM:613899 ; xref: ENSEMBL:ENSG00000158169 ; xref: REACTOME:Q00597]
Gene [OrphaNum:121715 ; Name:Fanconi anemia, complementation group E ; Symbol:FANCE ; xref: GENATLAS:FANCE ; xref: HGNC:3586 ; xref: OMIM:613976 ; xref: UNIPROTKB/SWISSPROT:Q9HB96 ; xref: REACTOME:Q9HB96 ; xref: ENSEMBL:ENSG00000112039]
Gene [OrphaNum:121693 ; Name:Fanconi anemia, complementation group A ; Symbol:FANCA ; xref: GENATLAS:FANCA ; xref: HGNC:3582 ; xref: OMIM:607139 ; xref: UNIPROTKB/SWISSPROT:O15360 ; xref: REACTOME:O15360 ; xref: ENSEMBL:ENSG00000187741]
Gene [OrphaNum:121730 ; Name:Fanconi anemia, complementation group M ; Symbol:FANCM ; xref: GENATLAS:FANCM ; xref: HGNC:23168 ; xref: OMIM:609644 ; xref: UNIPROTKB/SWISSPROT:Q8IYD8 ; xref: ENSEMBL:ENSG00000187790 ; xref: REACTOME:Q8IYD8]
Gene [OrphaNum:121722 ; Name:Fanconi anemia, complementation group G ; Symbol:FANCG ; xref: GENATLAS:FANCG ; xref: HGNC:3588 ; xref: OMIM:602956 ; xref: UNIPROTKB/SWISSPROT:O15287 ; xref: REACTOME:O15287 ; xref: ENSEMBL:ENSG00000221829]
Gene [OrphaNum:259354 ; Name:SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ; Symbol:SLX4 ; xref: ENSEMBL:ENSG00000188827 ; xref: HGNC:23845 ; xref: GENATLAS:BTBD12 ; xref: OMIM:613278 ; xref: UNIPROTKB/SWISSPROT:Q8IY92]
Gene [OrphaNum:138447 ; Name:Fanconi anemia, complementation group I ; Symbol:FANCI ; xref: GENATLAS:FANCI ; xref: HGNC:25568 ; xref: OMIM:611360 ; xref: UNIPROTKB/SWISSPROT:Q9NVI1 ; xref: ENSEMBL:ENSG00000140525 ; xref: REACTOME:Q9NVI1]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
Gene [OrphaNum:218040 ; Name:RNA binding motif protein 20 ; Symbol:RBM20 ; xref: ENSEMBL:ENSG00000203867 ; xref: GENATLAS:RBM20 ; xref: HGNC:27424 ; xref: OMIM:613171 ; xref: UNIPROTKB/SWISSPROT:Q5T481]
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive;
Gene [OrphaNum:159087 ; Name:Vinculin ; Symbol:VCL ; xref: ENSEMBL:ENSG00000035403 ; xref: REACTOME:P18206 ; xref: GENATLAS:VCL ; xref: HGNC:12665 ; xref: OMIM:193065 ; xref: UNIPROTKB/SWISSPROT:P18206]
Gene [OrphaNum:159586 ; Name:Four and a half LIM domains 2 ; Symbol:FHL2 ; xref: GENATLAS:FHL2 ; xref: HGNC:3703 ; xref: OMIM:602633 ; xref: UNIPROTKB/SWISSPROT:Q14192 ; xref: REACTOME:Q14192 ; xref: ENSEMBL:ENSG00000115641]
Gene [OrphaNum:225306 ; Name:Nexilin (F actin binding protein) ; Symbol:NEXN ; xref: ENSEMBL:ENSG00000162614 ; xref: GENATLAS:NEXN ; xref: HGNC:29557 ; xref: OMIM:613121 ; xref: UNIPROTKB/SWISSPROT:Q0ZGT2]
Gene [OrphaNum:159192 ; Name:Actinin, alpha 2 ; Symbol:ACTN2 ; xref: ENSEMBL:ENSG00000077522 ; xref: GENATLAS:ACTN2 ; xref: HGNC:164 ; xref: OMIM:102573 ; xref: UNIPROTKB/SWISSPROT:P35609 ; xref: REACTOME:P35609]
Gene [OrphaNum:120860 ; Name:Cysteine and glycine-rich protein 3 (cardiac LIM protein) ; Symbol:CSRP3 ; xref: GENATLAS:CSRP3 ; xref: HGNC:2472 ; xref: OMIM:600824 ; xref: UNIPROTKB/SWISSPROT:P50461 ; xref: ENSEMBL:ENSG00000129170]
Gene [OrphaNum:118658 ; Name:Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) ; Symbol:SGCD ; xref: GENATLAS:SGCD ; xref: HGNC:10807 ; xref: OMIM:601411 ; xref: UNIPROTKB/SWISSPROT:Q92629 ; xref: ENSEMBL:ENSG00000170624]
Gene [OrphaNum:304455 ; Name:GATA zinc finger domain containing 1 ; Symbol:GATAD1 ; xref: HGNC:29941 ; xref: OMIM:614518 ; xref: GENATLAS:GATAD1 ; xref: UNIPROTKB/SWISSPROT:Q8WUU5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154
Gene [OrphaNum:286619 ; Name:Thioredoxin reductase 2 ; Symbol:TXNRD2 ; xref: ENSEMBL:ENSG00000184470 ; xref: HGNC:18155 ; xref: OMIM:606448 ; xref: GENATLAS:TXNRD2 ; xref: UNIPROTKB/SWISSPROT:Q9NNW7]
Gene [OrphaNum:159042 ; Name:Thymopoietin ; Symbol:TMPO ; xref: GENATLAS:TMPO ; xref: HGNC:11875 ; xref: OMIM:188380 ; xref: UNIPROTKB/SWISSPROT:P42166 ; xref: ENSEMBL:ENSG00000120802]
Gene [OrphaNum:160331 ; Name:Phospholamban ; Symbol:PLN ; xref: ENSEMBL:ENSG00000198523 ; xref: GENATLAS:PLN ; xref: HGNC:9080 ; xref: OMIM:172405 ; xref: UNIPROTKB/SWISSPROT:P26678]
Gene [OrphaNum:159055 ; Name:Troponin C type 1 (slow) ; Symbol:TNNC1 ; xref: GENATLAS:TNNC1 ; xref: HGNC:11943 ; xref: OMIM:191040 ; xref: UNIPROTKB/SWISSPROT:P63316 ; xref: REACTOME:P63316 ; xref: ENSEMBL:ENSG00000114854]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191
Myoclonus epilepsy associated with ragged-red fibers
Gene [OrphaNum:205934 ; Name:Mitochondrially encoded tRNA proline ; Symbol:MT-TP ; xref: GENATLAS:MT-TP ; xref: HGNC:7494 ; xref: OMIM:590075]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355
Glycogenosis due to glucose-6-phosphatase deficiency
Glycogen storage disease due to G6P deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Multigenic/multifactorial;
Gene [OrphaNum:123934 ; Name:Neurturin ; Symbol:NRTN ; xref: GENATLAS:NRTN ; xref: HGNC:8007 ; xref: OMIM:602018 ; xref: UNIPROTKB/SWISSPROT:Q99748 ; xref: ENSEMBL:ENSG00000171119 ; xref: REACTOME:Q99748]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388
Gene [OrphaNum:121255 ; Name:Endothelin converting enzyme 1 ; Symbol:ECE1 ; xref: GENATLAS:ECE1 ; xref: HGNC:3146 ; xref: OMIM:600423 ; xref: UNIPROTKB/SWISSPROT:P42892 ; xref: ENSEMBL:ENSG00000117298]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768
Gene [OrphaNum:159443 ; Name:Topoisomerase I binding, arginine/serine-rich ; Symbol:TOPORS ; xref: GENATLAS:TOPORS ; xref: HGNC:21653 ; xref: OMIM:609507 ; xref: UNIPROTKB/SWISSPROT:Q9NS56 ; xref: ENSEMBL:ENSG00000197579]
Gene [OrphaNum:259361 ; Name:dehydrodolichyl diphosphate synthase ; Symbol:DHDDS ; xref: ENSEMBL:ENSG00000117682 ; xref: HGNC:20603 ; xref: GENATLAS:DHDDS ; xref: UNIPROTKB/SWISSPROT:Q86SQ9 ; xref: OMIM:608172]
Gene [OrphaNum:176228 ; Name:Isocitrate dehydrogenase 3 (NAD+) beta ; Symbol:IDH3B ; xref: ENSEMBL:ENSG00000101365 ; xref: GENATLAS:IDH3B ; xref: HGNC:5385 ; xref: OMIM:604526 ; xref: UNIPROTKB/SWISSPROT:O43837 ; xref: REACTOME:O43837]
Gene [OrphaNum:201095 ; Name:Guanylate cyclase activator 1B (retina) ; Symbol:GUCA1B ; xref: GENATLAS:GUCA1B ; xref: HGNC:4679 ; xref: OMIM:602275 ; xref: UNIPROTKB/SWISSPROT:Q9UMX6 ; xref: ENSEMBL:ENSG00000112599]
Gene [OrphaNum:123930 ; Name:Neural retina leucine zipper ; Symbol:NRL ; xref: GENATLAS:NRL ; xref: HGNC:8002 ; xref: OMIM:162080 ; xref: UNIPROTKB/SWISSPROT:P54845 ; xref: ENSEMBL:ENSG00000129535]
Gene [OrphaNum:118295 ; Name:Retinal G protein coupled receptor ; Symbol:RGR ; xref: GENATLAS:RGR ; xref: HGNC:9990 ; xref: OMIM:600342 ; xref: UNIPROTKB/SWISSPROT:P47804 ; xref: ENSEMBL:ENSG00000148604 ; xref: REACTOME:P47804]
Gene [OrphaNum:288959 ; Name:Retinol binding protein 3, interstitial ; Symbol:RBP3 ; xref: GENATLAS:RBP3 ; xref: GENATLAS:P10745 ; xref: ENSEMBL:ENSG00000107618 ; xref: OMIM:180290 ; xref: HGNC:9921]
Gene [OrphaNum:201546 ; Name:Kelch-like 7 (Drosophila) ; Symbol:KLHL7 ; xref: ENSEMBL:ENSG00000122550 ; xref: GENATLAS:KLHL7 ; xref: HGNC:15646 ; xref: OMIM:611119 ; xref: UNIPROTKB/SWISSPROT:Q8IXQ5]
Gene [OrphaNum:120664 ; Name:Cyclic nucleotide gated channel alpha 1 ; Symbol:CNGA1 ; xref: GENATLAS:CNGA1 ; xref: HGNC:2148 ; xref: OMIM:123825 ; xref: UNIPROTKB/SWISSPROT:P29973 ; xref: IUPHAR:394 ; xref: ENSEMBL:ENSG00000198515]
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive;
Gene [OrphaNum:118061 ; Name:PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) ; Symbol:PRPF31 ; xref: GENATLAS:PRPF31 ; xref: HGNC:15446 ; xref: OMIM:606419 ; xref: UNIPROTKB/SWISSPROT:Q8WWY3 ; xref: ENSEMBL:ENSG00000105618]
Gene [OrphaNum:119122 ; Name:Carbonic anhydrase IV ; Symbol:CA4 ; xref: GENATLAS:CA4 ; xref: HGNC:1375 ; xref: OMIM:114760 ; xref: UNIPROTKB/SWISSPROT:P22748 ; xref: ENSEMBL:ENSG00000167434]
Gene [OrphaNum:159434 ; Name:Cyclic nucleotide gated channel beta 1 ; Symbol:CNGB1 ; xref: GENATLAS:CNGB1 ; xref: HGNC:2151 ; xref: OMIM:600724 ; xref: UNIPROTKB/SWISSPROT:Q14028 ; xref: IUPHAR:398 ; xref: ENSEMBL:ENSG00000070729]
Gene [OrphaNum:118370 ; Name:Retinitis pigmentosa 2 (X-linked recessive) ; Symbol:RP2 ; xref: GENATLAS:RP2 ; xref: HGNC:10274 ; xref: OMIM:300757 ; xref: UNIPROTKB/SWISSPROT:O75695 ; xref: ENSEMBL:ENSG00000102218]
Gene [OrphaNum:233016 ; Name:Chromosome 2 open reading frame 71 ; Symbol:C2ORF71 ; xref: GENATLAS:C2orf71 ; xref: OMIM:613425 ; xref: ENSEMBL:ENSG00000179270 ; xref: HGNC:34383 ; xref: UNIPROTKB/SWISSPROT:A6NGG8]
Gene [OrphaNum:117992 ; Name:Progressive rod-cone degeneration ; Symbol:PRCD ; xref: GENATLAS:PRCD ; xref: HGNC:32528 ; xref: OMIM:610598 ; xref: UNIPROTKB/SWISSPROT:Q00LT1 ; xref: ENSEMBL:ENSG00000214140]
Gene [OrphaNum:274231 ; Name:male germ cell-associated kinase ; Symbol:MAK ; xref: OMIM:154235 ; xref: HGNC:6816 ; xref: GENATLAS:MAK ; xref: UNIPROTKB/SWISSPROT:P20794 ; xref: ENSEMBL:ENSG00000111837]
Gene [OrphaNum:239001 ; Name:Interphotoreceptor matrix proteoglycan 2 ; Symbol:IMPG2 ; xref: ENSEMBL:ENSG00000081148 ; xref: HGNC:18362 ; xref: OMIM:607056 ; xref: GENATLAS:IMPG2 ; xref: UNIPROTKB/SWISSPROT:Q9BZV3]
Gene [OrphaNum:119354 ; Name:Ceramide kinase-like ; Symbol:CERKL ; xref: GENATLAS:CERKL ; xref: HGNC:21699 ; xref: OMIM:608381 ; xref: UNIPROTKB/SWISSPROT:Q49MI3 ; xref: ENSEMBL:ENSG00000188452]
Gene [OrphaNum:118056 ; Name:PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) ; Symbol:PRPF3 ; xref: GENATLAS:PRPF3 ; xref: HGNC:17348 ; xref: OMIM:607301 ; xref: UNIPROTKB/SWISSPROT:O43395 ; xref: ENSEMBL:ENSG00000117360]
Gene [OrphaNum:239967 ; Name:Zinc finger protein 513 ; Symbol:ZNF513 ; xref: ENSEMBL:ENSG00000163795 ; xref: OMIM:613598 ; xref: GENATLAS:ZNF513 ; xref: HGNC:26498 ; xref: UNIPROTKB/SWISSPROT:Q8N8E2]
Gene [OrphaNum:124146 ; Name:Phosphodiesterase 6A, cGMP-specific, rod, alpha ; Symbol:PDE6A ; xref: GENATLAS:PDE6A ; xref: HGNC:8785 ; xref: OMIM:180071 ; xref: UNIPROTKB/SWISSPROT:P16499 ; xref: REACTOME:P16499 ; xref: ENSEMBL:ENSG00000132915]
Gene [OrphaNum:239962 ; Name:Family with sequence similarity 161, member A ; Symbol:FAM161A ; xref: OMIM:613596 ; xref: GENATLAS:FAM161A ; xref: HGNC:25808 ; xref: UNIPROTKB/SWISSPROT:Q3B820 ; xref: ENSEMBL:ENSG00000170264]
Gene [OrphaNum:121938 ; Name:Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) ; Symbol:FSCN2 ; xref: GENATLAS:FSCN2 ; xref: HGNC:3960 ; xref: OMIM:607643 ; xref: UNIPROTKB/SWISSPROT:O14926 ; xref: ENSEMBL:ENSG00000186765]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791
Gene [OrphaNum:123198 ; Name:C-mer proto-oncogene tyrosine kinase ; Symbol:MERTK ; xref: GENATLAS:MERTK ; xref: HGNC:7027 ; xref: OMIM:604705 ; xref: UNIPROTKB/SWISSPROT:Q12866 ; xref: ENSEMBL:ENSG00000153208 ; xref: REACTOME:Q12866]
Gene [OrphaNum:118367 ; Name:Retinitis pigmentosa 1 (autosomal dominant) ; Symbol:RP1 ; xref: GENATLAS:RP1 ; xref: HGNC:10263 ; xref: OMIM:603937 ; xref: UNIPROTKB/SWISSPROT:P56715 ; xref: ENSEMBL:ENSG00000104237]
Gene [OrphaNum:118066 ; Name:PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) ; Symbol:PRPF8 ; xref: GENATLAS:PRPF8 ; xref: HGNC:17340 ; xref: OMIM:607300 ; xref: UNIPROTKB/SWISSPROT:Q6P2Q9 ; xref: ENSEMBL:ENSG00000174231 ; xref: REACTOME:Q6P2Q9]
Gene [OrphaNum:221348 ; Name:Small nuclear ribonucleoprotein 200kDa (U5) ; Symbol:SNRNP200 ; xref: ENSEMBL:ENSG00000144028 ; xref: REACTOME:O75643 ; xref: GENATLAS:SNRNP200 ; xref: HGNC:30859 ; xref: OMIM:601664 ; xref: UNIPROTKB/SWISSPROT:O75643]
Gene [OrphaNum:266150 ; Name:PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) ; Symbol:PRPF6 ; xref: ENSEMBL:ENSG00000101161 ; xref: REACTOME:O94906 ; xref: HGNC:15860 ; xref: OMIM:613979 ; xref: GENATLAS:PRPF6 ; xref: UNIPROTKB/SWISSPROT:O94906]
Gene [OrphaNum:124149 ; Name:Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) ; Symbol:PDE6B ; xref: GENATLAS:PDE6B ; xref: HGNC:8786 ; xref: OMIM:180072 ; xref: UNIPROTKB/SWISSPROT:P35913 ; xref: ENSEMBL:ENSG00000133256 ; xref: REACTOME:P35913]
Gene [OrphaNum:169936 ; Name:Eyes shut homolog (Drosophila) ; Symbol:EYS ; xref: GENATLAS:EYS ; xref: HGNC:21555 ; xref: OMIM:612424 ; xref: UNIPROTKB/SWISSPROT:Q6UY05 ; xref: ENSEMBL:ENSG00000188107]
Gene [OrphaNum:118373 ; Name:Retinitis pigmentosa 9 (autosomal dominant) ; Symbol:RP9 ; xref: GENATLAS:RP9 ; xref: HGNC:10288 ; xref: OMIM:607331 ; xref: UNIPROTKB/SWISSPROT:Q8TA86 ; xref: ENSEMBL:ENSG00000164610]
Gene [OrphaNum:238998 ; Name:Phosphodiesterase 6G, cGMP-specific, rod, gamma ; Symbol:PDE6G ; xref: ENSEMBL:ENSG00000185527 ; xref: GENATLAS:PDE6G ; xref: HGNC:8789 ; xref: UNIPROTKB/SWISSPROT:P18545 ; xref: OMIM:180073 ; xref: REACTOME:P18545]
Gene [OrphaNum:118358 ; Name:Retinal outer segment membrane protein 1 ; Symbol:ROM1 ; xref: GENATLAS:ROM1 ; xref: HGNC:10254 ; xref: OMIM:180721 ; xref: UNIPROTKB/SWISSPROT:Q03395 ; xref: ENSEMBL:ENSG00000149489]
Gene [OrphaNum:258542 ; Name:kelch repeat and BTB (POZ) domain containing 13 ; Symbol:KBTBD13 ; xref: ENSEMBL:ENSG00000234438 ; xref: OMIM:613727 ; xref: HGNC:37227 ; xref: GENATLAS:KBTBD13 ; xref: UNIPROTKB/SWISSPROT:C9JR72]
Gene [OrphaNum:119377 ; Name:Cofilin 2 (muscle) ; Symbol:CFL2 ; xref: ENSEMBL:ENSG00000165410 ; xref: GENATLAS:CFL2 ; xref: HGNC:1875 ; xref: OMIM:601443 ; xref: UNIPROTKB/SWISSPROT:Q9Y281]
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270
Gene [OrphaNum:124051 ; Name:Poly(A) binding protein, nuclear 1 ; Symbol:PABPN1 ; xref: GENATLAS:PABPN1 ; xref: HGNC:8565 ; xref: OMIM:602279 ; xref: UNIPROTKB/SWISSPROT:Q86U42 ; xref: ENSEMBL:ENSG00000100836 ; xref: REACTOME:Q86U42]
Gene [OrphaNum:268087 ; Name:dynein, axonemal, light chain 1 ; Symbol:DNAL1 ; xref: HGNC:23247 ; xref: ENSEMBL:ENSG00000119661 ; xref: OMIM:610062 ; xref: GENATLAS:DNAL1 ; xref: UNIPROTKB/SWISSPROT:Q4LDG9]
Gene [OrphaNum:178077 ; Name:Radial spoke head 9 homolog (Chlamydomonas) ; Symbol:RSPH9 ; xref: GENATLAS:RSPH9 ; xref: HGNC:21057 ; xref: OMIM:612648 ; xref: UNIPROTKB/SWISSPROT:Q9H1X1 ; xref: ENSEMBL:ENSG00000172426]
Gene [OrphaNum:296690 ; Name:Dynein, axonemal, assembly factor 3 ; Symbol:DNAAF3 ; xref: HGNC:30492 ; xref: UNIPROTKB/SWISSPROT:Q8N9W5 ; xref: GENATLAS:C19orf51 ; xref: OMIM:614566]
Gene [OrphaNum:218045 ; Name:Leucine rich repeat containing 50 ; Symbol:LRRC50 ; xref: ENSEMBL:ENSG00000154099 ; xref: GENATLAS:LRRC50 ; xref: HGNC:30539 ; xref: OMIM:613190 ; xref: UNIPROTKB/SWISSPROT:Q8NEP3]
Gene [OrphaNum:246554 ; Name:Coiled-coil domain containing 40 ; Symbol:CCDC40 ; xref: OMIM:613799 ; xref: ENSEMBL:ENSG00000141519 ; xref: GENATLAS:CCDC40 ; xref: HGNC:26090 ; xref: UNIPROTKB/SWISSPROT:Q4G0X9]
Gene [OrphaNum:178082 ; Name:Radial spoke head 4 homolog A (Chlamydomonas) ; Symbol:RSPH4A ; xref: GENATLAS:RSPH4A ; xref: HGNC:21558 ; xref: OMIM:612647 ; xref: UNIPROTKB/SWISSPROT:Q5TD94 ; xref: ENSEMBL:ENSG00000111834]
Gene [OrphaNum:171068 ; Name:dynein, axonemal, assembly factor 2 ; Symbol:DNAAF2 ; xref: GENATLAS:C14orf104 ; xref: HGNC:20188 ; xref: OMIM:612517 ; xref: UNIPROTKB/SWISSPROT:Q9NVR5 ; xref: ENSEMBL:ENSG00000165506]
Gene [OrphaNum:303726 ; Name:Coiled-coil domain containing 103 ; Symbol:CCDC103 ; xref: HGNC:32700 ; xref: OMIM:614677 ; xref: GENATLAS:CCDC103 ; xref: UNIPROTKB/SWISSPROT:Q8IW40]
Gene [OrphaNum:121137 ; Name:Dynein, axonemal, heavy chain 5 ; Symbol:DNAH5 ; xref: GENATLAS:DNAH5 ; xref: HGNC:2950 ; xref: OMIM:603335 ; xref: UNIPROTKB/SWISSPROT:Q8TE73 ; xref: ENSEMBL:ENSG00000039139]
Gene [OrphaNum:138359 ; Name:Thioredoxin domain containing 3 (spermatozoa) ; Symbol:TXNDC3 ; xref: GENATLAS:TXNDC3 ; xref: HGNC:16473 ; xref: OMIM:607421 ; xref: UNIPROTKB/SWISSPROT:Q8N427 ; xref: ENSEMBL:ENSG00000086288]
Gene [OrphaNum:246552 ; Name:Coiled-coil domain containing 39 ; Symbol:CCDC39 ; xref: ENSEMBL:ENSG00000145075 ; xref: OMIM:613798 ; xref: UNIPROTKB/SWISSPROT:Q9UFE4 ; xref: GENATLAS:CCDC39 ; xref: HGNC:25244]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244
Purine nucleoside phosphorylase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760
Gene [OrphaNum:123864 ; Name:Purine nucleoside phosphorylase ; Symbol:PNP ; xref: GENATLAS:NP ; xref: HGNC:7892 ; xref: OMIM:164050 ; xref: UNIPROTKB/SWISSPROT:P00491 ; xref: ENSEMBL:ENSG00000198805 ; xref: REACTOME:P00491]
Alpha-N-acetylgalactosaminidase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137
Gene [OrphaNum:123669 ; Name:N-acetylgalactosaminidase, alpha- ; Symbol:NAGA ; xref: GENATLAS:NAGA ; xref: HGNC:7631 ; xref: OMIM:104170 ; xref: UNIPROTKB/SWISSPROT:P17050 ; xref: ENSEMBL:ENSG00000198951]
Gene [OrphaNum:121763 ; Name:Fructose-1,6-bisphosphatase 1 ; Symbol:FBP1 ; xref: GENATLAS:FBP1 ; xref: HGNC:3606 ; xref: OMIM:229700 ; xref: UNIPROTKB/SWISSPROT:P09467 ; xref: ENSEMBL:ENSG00000165140 ; xref: REACTOME:P09467]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348
Glycogen storage disease due to muscle phosphorylase kinase deficiency
GSD due to muscle phosphorylase kinase deficiency
Glycogenosis due to muscle phosphorylase kinase deficiency
Gene [OrphaNum:117790 ; Name:Phosphorylase kinase, alpha 1 (muscle) ; Symbol:PHKA1 ; xref: GENATLAS:PHKA1 ; xref: HGNC:8925 ; xref: OMIM:311870 ; xref: UNIPROTKB/SWISSPROT:P46020 ; xref: ENSEMBL:ENSG00000067177 ; xref: REACTOME:P46020]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715
prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Autosomal recessive limb-girdle muscular dystrophy type 2D
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62
Gene [OrphaNum:118647 ; Name:Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) ; Symbol:SGCA ; xref: GENATLAS:SGCA ; xref: HGNC:10805 ; xref: OMIM:600119 ; xref: UNIPROTKB/SWISSPROT:Q16586 ; xref: ENSEMBL:ENSG00000108823]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118
Gene [OrphaNum:123131 ; Name:Mannosidase, beta A, lysosomal ; Symbol:MANBA ; xref: GENATLAS:MANBA ; xref: HGNC:6831 ; xref: OMIM:609489 ; xref: UNIPROTKB/SWISSPROT:O00462 ; xref: ENSEMBL:ENSG00000109323]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103
Erythrokeratodermia variabilis, Mendes da Costa type
Gene [OrphaNum:122139 ; Name:Gap junction protein, beta 4 ; Symbol:GJB4 ; xref: GENATLAS:GJB4 ; xref: HGNC:4286 ; xref: OMIM:605425 ; xref: UNIPROTKB/SWISSPROT:Q9NTQ9 ; xref: ENSEMBL:ENSG00000189433 ; xref: REACTOME:Q9NTQ9]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317
Short stature due to growth hormone qualitative anomaly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632
Autosomal recessive hypohidrotic ectodermal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248
Gene [OrphaNum:121273 ; Name:Ectodysplasin A receptor ; Symbol:EDAR ; xref: GENATLAS:EDAR ; xref: HGNC:2895 ; xref: OMIM:604095 ; xref: UNIPROTKB/SWISSPROT:Q9UNE0 ; xref: ENSEMBL:ENSG00000135960]
Gene [OrphaNum:121282 ; Name:EDAR-associated death domain ; Symbol:EDARADD ; xref: GENATLAS:EDARADD ; xref: HGNC:14341 ; xref: OMIM:606603 ; xref: UNIPROTKB/SWISSPROT:Q8WWZ3 ; xref: ENSEMBL:ENSG00000186197]
Autosomal dominant hypohidrotic ectodermal dysplasia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- X-linked recessive;
Gene [OrphaNum:225339 ; Name:Tetraspanin 12 ; Symbol:TSPAN12 ; xref: ENSEMBL:ENSG00000106025 ; xref: GENATLAS:TSPAN12 ; xref: HGNC:21641 ; xref: OMIM:613138 ; xref: UNIPROTKB/SWISSPROT:O95859]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Maternally inherited diabetes and deafness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Mitochondrial inheritance;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467
Branched-chain ketoacid dehydrogenase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511
Gene [OrphaNum:119005 ; Name:Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) ; Symbol:BCKDHB ; xref: GENATLAS:BCKDHB ; xref: HGNC:987 ; xref: OMIM:248611 ; xref: UNIPROTKB/SWISSPROT:P21953 ; xref: ENSEMBL:ENSG00000083123 ; xref: REACTOME:P21953]
Gene [OrphaNum:121025 ; Name:Dihydrolipoamide branched chain transacylase E2 ; Symbol:DBT ; xref: GENATLAS:DBT ; xref: HGNC:2698 ; xref: OMIM:248610 ; xref: UNIPROTKB/SWISSPROT:P11182 ; xref: ENSEMBL:ENSG00000137992 ; xref: REACTOME:P11182]
Gene [OrphaNum:119002 ; Name:Branched chain keto acid dehydrogenase E1, alpha polypeptide ; Symbol:BCKDHA ; xref: GENATLAS:BCKDHA ; xref: HGNC:986 ; xref: OMIM:608348 ; xref: UNIPROTKB/SWISSPROT:P12694 ; xref: REACTOME:P12694 ; xref: ENSEMBL:ENSG00000248098]
Methylmalonic acidemia with homocystinuria
Combined defect in adenosylcobalamin and methylcobalamin synthesis
Methylmalonic aciduria with homocystinuria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26
Gene [OrphaNum:138561 ; Name:Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 ; Symbol:MTHFD1 ; xref: GENATLAS:MTHFD1 ; xref: HGNC:7432 ; xref: OMIM:172460 ; xref: UNIPROTKB/SWISSPROT:P11586 ; xref: REACTOME:P11586 ; xref: ENSEMBL:ENSG00000100714]
Gene [OrphaNum:122300 ; Name:Glutathione synthetase ; Symbol:GSS ; xref: GENATLAS:GSS ; xref: HGNC:4624 ; xref: OMIM:601002 ; xref: UNIPROTKB/SWISSPROT:P48637 ; xref: ENSEMBL:ENSG00000100983 ; xref: REACTOME:P48637]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32
Ketoacidosis due to betaketothiolase deficiency
Alpha methyl acetoacetyl-CoA thiolase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134
Gene [OrphaNum:117724 ; Name:Acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) ; Symbol:ACAT1 ; xref: GENATLAS:ACAT1 ; xref: HGNC:93 ; xref: OMIM:607809 ; xref: UNIPROTKB/SWISSPROT:P24752 ; xref: ENSEMBL:ENSG00000075239 ; xref: REACTOME:P24752]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984
prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1428
Bladder exstrophy-epispadias-cloacal extrophy complex
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368
Autosomal recessive primary microcephaly
Gene [OrphaNum:119336 ; Name:Centromere protein J ; Symbol:CENPJ ; xref: GENATLAS:CENPJ ; xref: HGNC:17272 ; xref: OMIM:609279 ; xref: UNIPROTKB/SWISSPROT:Q9HC77 ; xref: ENSEMBL:ENSG00000151849 ; xref: REACTOME:Q9HC77]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512
Gene [OrphaNum:119292 ; Name:CDK5 regulatory subunit associated protein 2 ; Symbol:CDK5RAP2 ; xref: GENATLAS:CDK5RAP2 ; xref: HGNC:18672 ; xref: OMIM:608201 ; xref: UNIPROTKB/SWISSPROT:Q96SN8 ; xref: ENSEMBL:ENSG00000136861 ; xref: REACTOME:Q96SN8]
Gene [OrphaNum:292102 ; Name:Centrosomal protein 63kDa ; Symbol:CEP63 ; xref: HGNC:25815 ; xref: GENATLAS:CEP63 ; xref: UNIPROTKB/SWISSPROT:Q96MT8 ; xref: OMIM:614724]
Gene [OrphaNum:121461 ; Name:Asp (abnormal spindle) homolog, microcephaly associated (Drosophila) ; Symbol:ASPM ; xref: GENATLAS:ASPM ; xref: HGNC:19048 ; xref: OMIM:605481 ; xref: UNIPROTKB/SWISSPROT:Q8IZT6 ; xref: ENSEMBL:ENSG00000066279]
Gene [OrphaNum:171649 ; Name:SCL/TAL1 interrupting locus ; Symbol:STIL ; xref: GENATLAS:STIL ; xref: HGNC:10879 ; xref: OMIM:181590 ; xref: UNIPROTKB/SWISSPROT:Q15468 ; xref: ENSEMBL:ENSG00000123473]
Gene [OrphaNum:295279 ; Name:Centrosomal protein 135kDa ; Symbol:CEP135 ; xref: HGNC:29086 ; xref: OMIM:611423 ; xref: GENATLAS:CEP135 ; xref: UNIPROTKB/SWISSPROT:Q66GS9]
Gene [OrphaNum:240669 ; Name:Centrosomal protein 152kDa ; Symbol:CEP152 ; xref: GENATLAS:CEP152 ; xref: HGNC:29298 ; xref: OMIM:613529 ; xref: UNIPROTKB/SWISSPROT:O94986 ; xref: ENSEMBL:ENSG00000103995 ; xref: REACTOME:O94986]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Gene [OrphaNum:291915 ; Name:Butyrophilin-like 2 (MHC class II associated) ; Symbol:BTNL2 ; xref: HGNC:1142 ; xref: OMIM:606000 ; xref: GENATLAS:BTNL2 ; xref: UNIPROTKB/SWISSPROT:Q9UIR0 ; xref: ENSEMBL:ENSG00000204290]
prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Gene [OrphaNum:122427 ; Name:Major histocompatibility complex, class II, DR beta 1 ; Symbol:HLA-DRB1 ; xref: REACTOME:P04229 ; xref: GENATLAS:HLA-DRB1 ; xref: HGNC:4948 ; xref: OMIM:142857 ; xref: UNIPROTKB/SWISSPROT:P04229 ; xref: UNIPROTKB/SWISSPROT:P13760 ; xref: UNIPROTKB/SWISSPROT:P13761 ; xref: UNIPROTKB/SWISSPROT:P20039 ; xref: UNIPROTKB/SWISSPROT:Q30134 ; xref: UNIPROTKB/SWISSPROT:Q30167 ; xref: UNIPROTKB/SWISSPROT:Q9TQE0 ; xref: ENSEMBL:ENSG00000196126]
Gene [OrphaNum:119599 ; Name:Aldolase A, fructose-bisphosphate ; Symbol:ALDOA ; xref: GENATLAS:ALDOA ; xref: HGNC:414 ; xref: OMIM:103850 ; xref: UNIPROTKB/SWISSPROT:P04075 ; xref: REACTOME:P04075 ; xref: ENSEMBL:ENSG00000149925]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713
Gene [OrphaNum:124227 ; Name:Phosphoglycerate kinase 1 ; Symbol:PGK1 ; xref: GENATLAS:PGK1 ; xref: HGNC:8896 ; xref: OMIM:311800 ; xref: UNIPROTKB/SWISSPROT:P00558 ; xref: REACTOME:P00558 ; xref: ENSEMBL:ENSG00000102144]
46,XY sex development disorder due to LH defects
LH resistance due to LH receptor inactivation
Male pseudohermaphrodism due to LH defects
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755
Gene [OrphaNum:123046 ; Name:Luteinizing hormone beta polypeptide ; Symbol:LHB ; xref: GENATLAS:LHB ; xref: HGNC:6584 ; xref: OMIM:152780 ; xref: UNIPROTKB/SWISSPROT:P01229 ; xref: ENSEMBL:ENSG00000104826 ; xref: REACTOME:P01229]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249
Osteochondritis of tarsal/metatarsal bone
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2054
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614
Gene [OrphaNum:119447 ; Name:Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ; Symbol:CLCN1 ; xref: GENATLAS:CLCN1 ; xref: HGNC:2019 ; xref: OMIM:118425 ; xref: UNIPROTKB/SWISSPROT:P35523 ; xref: ENSEMBL:ENSG00000188037]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806
Gene [OrphaNum:258633 ; Name:Anoctamin 6 ; Symbol:ANO6 ; xref: OMIM:608663 ; xref: HGNC:25240 ; xref: GENATLAS:ANO6 ; xref: UNIPROTKB/SWISSPROT:Q4KMQ2 ; xref: ENSEMBL:ENSG00000177119]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46
Gene [OrphaNum:119507 ; Name:Adenylosuccinate lyase ; Symbol:ADSL ; xref: REACTOME:P30566 ; xref: GENATLAS:ADSL ; xref: HGNC:291 ; xref: OMIM:608222 ; xref: UNIPROTKB/SWISSPROT:P30566 ; xref: ENSEMBL:ENSG00000239900]
Gene [OrphaNum:117685 ; Name:ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) ; Symbol:ABCG8 ; xref: GENATLAS:ABCG8 ; xref: HGNC:13887 ; xref: OMIM:605460 ; xref: UNIPROTKB/SWISSPROT:Q9H221 ; xref: ENSEMBL:ENSG00000143921 ; xref: REACTOME:Q9H221]
Gene [OrphaNum:117683 ; Name:ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) ; Symbol:ABCG5 ; xref: GENATLAS:ABCG5 ; xref: HGNC:13886 ; xref: OMIM:605459 ; xref: UNIPROTKB/SWISSPROT:Q9H222 ; xref: ENSEMBL:ENSG00000138075 ; xref: REACTOME:Q9H222]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166
Gene [OrphaNum:122207 ; Name:Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ; Symbol:GNE ; xref: GENATLAS:GNE ; xref: HGNC:23657 ; xref: OMIM:603824 ; xref: UNIPROTKB/SWISSPROT:Q9Y223 ; xref: ENSEMBL:ENSG00000159921]
Gene [OrphaNum:121131 ; Name:Dystrophia myotonica-protein kinase ; Symbol:DMPK ; xref: ENSEMBL:ENSG00000104936 ; xref: GENATLAS:DMPK ; xref: HGNC:2933 ; xref: OMIM:605377 ; xref: UNIPROTKB/SWISSPROT:Q09013]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415
Gene [OrphaNum:118789 ; Name:Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 ; Symbol:SLC25A15 ; xref: GENATLAS:SLC25A15 ; xref: HGNC:10985 ; xref: OMIM:603861 ; xref: UNIPROTKB/SWISSPROT:Q9Y619 ; xref: ENSEMBL:ENSG00000102743 ; xref: REACTOME:Q9Y619]
6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13
Gene [OrphaNum:118157 ; Name:6-pyruvoyltetrahydropterin synthase ; Symbol:PTS ; xref: GENATLAS:PTS ; xref: HGNC:9689 ; xref: OMIM:261640 ; xref: UNIPROTKB/SWISSPROT:Q03393 ; xref: ENSEMBL:ENSG00000150787 ; xref: REACTOME:Q03393]
Sarcosine dehydrogenase complex deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129
Gene [OrphaNum:118468 ; Name:Sarcosine dehydrogenase ; Symbol:SARDH ; xref: GENATLAS:SARDH ; xref: HGNC:10536 ; xref: OMIM:604455 ; xref: UNIPROTKB/SWISSPROT:Q9UL12 ; xref: ENSEMBL:ENSG00000123453]
Dihydropyrimidine dehydrogenase deficiency
Gene [OrphaNum:121171 ; Name:Dihydropyrimidine dehydrogenase ; Symbol:DPYD ; xref: GENATLAS:DPYD ; xref: HGNC:3012 ; xref: UNIPROTKB/SWISSPROT:Q12882 ; xref: OMIM:612779 ; xref: REACTOME:Q12882 ; xref: ENSEMBL:ENSG00000188641]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675
Adenine phosphoribosyltransferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976
Gene [OrphaNum:121400 ; Name:Adenine phosphoribosyltransferase ; Symbol:APRT ; xref: GENATLAS:APRT ; xref: HGNC:626 ; xref: OMIM:102600 ; xref: UNIPROTKB/SWISSPROT:P07741 ; xref: ENSEMBL:ENSG00000198931 ; xref: REACTOME:P07741]
Fatal infantile lactic acidosis with methylmalonic aciduria
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17
Gene [OrphaNum:158461 ; Name:Succinate-CoA ligase, alpha subunit ; Symbol:SUCLG1 ; xref: GENATLAS:SUCLG1 ; xref: HGNC:11449 ; xref: OMIM:611224 ; xref: UNIPROTKB/SWISSPROT:P53597 ; xref: ENSEMBL:ENSG00000163541 ; xref: REACTOME:P53597]
Hemolytic-uremic syndrome without diarrhea
Gene [OrphaNum:286604 ; Name:Complement factor H-related 5 ; Symbol:CFHR5 ; xref: ENSEMBL:ENSG00000134389 ; xref: HGNC:24668 ; xref: OMIM:608593 ; xref: GENATLAS:CFHR5 ; xref: UNIPROTKB/SWISSPROT:Q9BXR6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2416
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1249
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3020
Gene [OrphaNum:119192 ; Name:Catalase ; Symbol:CAT ; xref: GENATLAS:CAT ; xref: HGNC:1516 ; xref: OMIM:115500 ; xref: UNIPROTKB/SWISSPROT:P04040 ; xref: ENSEMBL:ENSG00000121691 ; xref: REACTOME:P04040]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195
Gene [OrphaNum:120027 ; Name:Transferrin ; Symbol:TF ; xref: GENATLAS:TF ; xref: HGNC:11740 ; xref: OMIM:190000 ; xref: UNIPROTKB/SWISSPROT:P02787 ; xref: ENSEMBL:ENSG00000091513 ; xref: REACTOME:P02787]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274
prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:122241 ; Name:Glycoprotein Ib (platelet), beta polypeptide ; Symbol:GP1BB ; xref: GENATLAS:GP1BB ; xref: HGNC:4440 ; xref: OMIM:138720 ; xref: UNIPROTKB/SWISSPROT:P13224 ; xref: REACTOME:P13224 ; xref: ENSEMBL:ENSG00000203618]
Gene [OrphaNum:122244 ; Name:Glycoprotein IX (platelet) ; Symbol:GP9 ; xref: GENATLAS:GP9 ; xref: HGNC:4444 ; xref: OMIM:173515 ; xref: UNIPROTKB/SWISSPROT:P14770 ; xref: REACTOME:P14770 ; xref: ENSEMBL:ENSG00000169704]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357
prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040
Spongy degeneration of central nervous system
Gene [OrphaNum:121457 ; Name:Aspartoacylase (Canavan disease) ; Symbol:ASPA ; xref: ENSEMBL:ENSG00000108381 ; xref: GENATLAS:ASPA ; xref: HGNC:756 ; xref: OMIM:608034 ; xref: UNIPROTKB/SWISSPROT:P45381]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928
Idiopathic ventricular fibrillation, Brugada type
Sudden unexplained nocturnal death syndrome
prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:218675 ; Name:Sodium channel, voltage-gated, type III, beta ; Symbol:SCN3B ; xref: ENSEMBL:ENSG00000166257 ; xref: REACTOME:Q9NY72 ; xref: GENATLAS:SCN3B ; xref: HGNC:20665 ; xref: OMIM:608214 ; xref: UNIPROTKB/SWISSPROT:Q9NY72]
Gene [OrphaNum:302951 ; Name:Potassium voltage-gated channel, Shal-related subfamily, member 3 ; Symbol:KCND3 ; xref: UNIPROTKB/SWISSPROT:Q9UK17 ; xref: HGNC:6239 ; xref: OMIM:605411 ; xref: GENATLAS:KCND3]
Gene [OrphaNum:119164 ; Name:Calcium channel, voltage-dependent, beta 2 subunit ; Symbol:CACNB2 ; xref: GENATLAS:CACNB2 ; xref: HGNC:1402 ; xref: OMIM:600003 ; xref: UNIPROTKB/SWISSPROT:Q08289 ; xref: ENSEMBL:ENSG00000165995 ; xref: REACTOME:Q08289]
Gene [OrphaNum:297206 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 8 ; Symbol:KCNJ8 ; xref: UNIPROTKB/SWISSPROT:Q15842 ; xref: HGNC:6269 ; xref: OMIM:600935 ; xref: GENATLAS:KCNJ8]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130
Gene [OrphaNum:218672 ; Name:Glycerol-3-phosphate dehydrogenase 1-like ; Symbol:GPD1L ; xref: REACTOME:Q8N335 ; xref: GENATLAS:GPD1L ; xref: HGNC:28956 ; xref: OMIM:611778 ; xref: UNIPROTKB/SWISSPROT:Q8N335 ; xref: ENSEMBL:ENSG00000152642]
Severe combined immunodeficiency due to adenosine deaminase deficiency
Gene [OrphaNum:117771 ; Name:Adenosine deaminase ; Symbol:ADA ; xref: GENATLAS:ADA ; xref: HGNC:186 ; xref: OMIM:608958 ; xref: UNIPROTKB/SWISSPROT:P00813 ; xref: ENSEMBL:ENSG00000196839 ; xref: REACTOME:P00813]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277
prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Gene [OrphaNum:123067 ; Name:Lipase, member I ; Symbol:LIPI ; xref: GENATLAS:LIPI ; xref: HGNC:18821 ; xref: OMIM:609252 ; xref: UNIPROTKB/SWISSPROT:Q6XZB0 ; xref: ENSEMBL:ENSG00000188992]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=413
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=426
Gene [OrphaNum:124107 ; Name:Pyruvate carboxylase ; Symbol:PC ; xref: GENATLAS:PC ; xref: HGNC:8636 ; xref: OMIM:608786 ; xref: UNIPROTKB/SWISSPROT:P11498 ; xref: ENSEMBL:ENSG00000173599 ; xref: REACTOME:P11498]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595
Gene [OrphaNum:158583 ; Name:HNF1 homeobox A ; Symbol:HNF1A ; xref: GENATLAS:HNF1A ; xref: HGNC:11621 ; xref: OMIM:142410 ; xref: UNIPROTKB/SWISSPROT:P20823 ; xref: ENSEMBL:ENSG00000135100 ; xref: REACTOME:P20823]
Gene [OrphaNum:227384 ; Name:B lymphoid tyrosine kinase ; Symbol:BLK ; xref: GENATLAS:BLK ; xref: HGNC:1057 ; xref: OMIM:191305 ; xref: UNIPROTKB/SWISSPROT:P51451 ; xref: ENSEMBL:ENSG00000136573 ; xref: REACTOME:P51451]
Gene [OrphaNum:123762 ; Name:Neurogenic differentiation 1 ; Symbol:NEUROD1 ; xref: GENATLAS:NEUROD1 ; xref: HGNC:7762 ; xref: OMIM:601724 ; xref: UNIPROTKB/SWISSPROT:Q13562 ; xref: ENSEMBL:ENSG00000162992 ; xref: REACTOME:Q13562]
Gene [OrphaNum:201085 ; Name:Paired box 4 ; Symbol:PAX4 ; xref: ENSEMBL:ENSG00000106331 ; xref: REACTOME:O43316 ; xref: GENATLAS:PAX4 ; xref: HGNC:8618 ; xref: OMIM:167413 ; xref: UNIPROTKB/SWISSPROT:O43316]
Gene [OrphaNum:122868 ; Name:Kruppel-like factor 11 ; Symbol:KLF11 ; xref: GENATLAS:KLF11 ; xref: HGNC:11811 ; xref: OMIM:603301 ; xref: UNIPROTKB/SWISSPROT:O14901 ; xref: ENSEMBL:ENSG00000172059]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552
Gene [OrphaNum:119333 ; Name:Carboxyl ester lipase (bile salt-stimulated lipase) ; Symbol:CEL ; xref: GENATLAS:CEL ; xref: HGNC:1848 ; xref: OMIM:114840 ; xref: UNIPROTKB/SWISSPROT:P19835 ; xref: REACTOME:P19835 ; xref: ENSEMBL:ENSG00000170835]
Mitochondrial neurogastrointestinal encephalomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Gene [OrphaNum:159550 ; Name:Thymidine phosphorylase ; Symbol:TYMP ; xref: GENATLAS:TYMP ; xref: HGNC:3148 ; xref: OMIM:131222 ; xref: UNIPROTKB/SWISSPROT:P19971 ; xref: ENSEMBL:ENSG00000025708 ; xref: REACTOME:P19971]
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive;
Gene [OrphaNum:117652 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 2 ; Symbol:ABCC2 ; xref: GENATLAS:ABCC2 ; xref: HGNC:53 ; xref: OMIM:601107 ; xref: UNIPROTKB/SWISSPROT:Q92887 ; xref: ENSEMBL:ENSG00000023839 ; xref: REACTOME:Q92887]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234
Subacute spongiform encephalopathy, Gerstmann-Straussler type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466
Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463
Gene [OrphaNum:166722 ; Name:CDGSH iron sulfur domain 2 ; Symbol:CISD2 ; xref: GENATLAS:CISD2 ; xref: HGNC:24212 ; xref: OMIM:611507 ; xref: UNIPROTKB/SWISSPROT:Q8N5K1 ; xref: ENSEMBL:ENSG00000145354]
Spastic ataxia, Charlevoix-Saguenay type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98
Gene [OrphaNum:118445 ; Name:Spastic ataxia of Charlevoix-Saguenay (sacsin) ; Symbol:SACS ; xref: GENATLAS:SACS ; xref: HGNC:10519 ; xref: OMIM:604490 ; xref: UNIPROTKB/SWISSPROT:Q9NZJ4 ; xref: ENSEMBL:ENSG00000151835]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478
prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null;
Autosomal dominant severe congenital neutropenia
Gene [OrphaNum:122080 ; Name:Growth factor independent 1 ; Symbol:GFI1 ; xref: GENATLAS:GFI1 ; xref: HGNC:4237 ; xref: OMIM:600871 ; xref: UNIPROTKB/SWISSPROT:Q99684 ; xref: ENSEMBL:ENSG00000162676]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486
Hereditary progressive arthroophthalmopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828
Early onset cerebellar ataxia with retained tendon reflex
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177
Transient familial neonatal hyperbilirubinemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312
Autosomal dominant hyperimmunoglobulin E syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314
Gene [OrphaNum:138523 ; Name:Signal transducer and activator of transcription 3 (acute-phase response factor) ; Symbol:STAT3 ; xref: GENATLAS:STAT3 ; xref: HGNC:11364 ; xref: OMIM:102582 ; xref: UNIPROTKB/SWISSPROT:P40763 ; xref: ENSEMBL:ENSG00000168610 ; xref: REACTOME:P40763]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372
Aseptic necrosis of the capital femoral epiphysis
Osteochondritis of the capital femoral epiphysis
Osteochondrosis of the capital femoral epiphysis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=850
Gene [OrphaNum:117961 ; Name:POU class 6 homeobox 2 ; Symbol:POU6F2 ; xref: GENATLAS:POU6F2 ; xref: HGNC:21694 ; xref: OMIM:609062 ; xref: UNIPROTKB/SWISSPROT:P78424 ; xref: ENSEMBL:ENSG00000106536]
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654
Gene [OrphaNum:122248 ; Name:Glypican 3 ; Symbol:GPC3 ; xref: GENATLAS:GPC3 ; xref: HGNC:4451 ; xref: OMIM:300037 ; xref: UNIPROTKB/SWISSPROT:P51654 ; xref: ENSEMBL:ENSG00000147257]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646
Lutz-Lewandowsky epidermodysplasia verruciformis
Gene [OrphaNum:159303 ; Name:Transmembrane channel-like 6 ; Symbol:TMC6 ; xref: GENATLAS:TMC6 ; xref: HGNC:18021 ; xref: OMIM:605828 ; xref: UNIPROTKB/SWISSPROT:Q7Z403 ; xref: ENSEMBL:ENSG00000141524]
Gene [OrphaNum:159387 ; Name:Transmembrane channel-like 8 ; Symbol:TMC8 ; xref: GENATLAS:TMC8 ; xref: HGNC:20474 ; xref: OMIM:605829 ; xref: UNIPROTKB/SWISSPROT:Q8IU68 ; xref: ENSEMBL:ENSG00000167895]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224
Dominant hyaloideoretinal dystrophy of Wagner
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898
Gene [OrphaNum:120457 ; Name:Versican ; Symbol:VCAN ; xref: GENATLAS:VCAN ; xref: HGNC:2464 ; xref: OMIM:118661 ; xref: UNIPROTKB/SWISSPROT:P13611 ; xref: ENSEMBL:ENSG00000038427]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587
Gene [OrphaNum:123468 ; Name:Myeloperoxidase ; Symbol:MPO ; xref: GENATLAS:MPO ; xref: HGNC:7218 ; xref: OMIM:606989 ; xref: UNIPROTKB/SWISSPROT:P05164 ; xref: ENSEMBL:ENSG00000005381]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202
prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346
Graham Little-Piccardi-Lassueur syndrome
Gene [OrphaNum:122424 ; Name:Major histocompatibility complex, class II, DR alpha ; Symbol:HLA-DRA ; xref: GENATLAS:HLA-DRA ; xref: HGNC:4947 ; xref: OMIM:142860 ; xref: UNIPROTKB/SWISSPROT:P01903 ; xref: ENSEMBL:ENSG00000204287 ; xref: REACTOME:P01903]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764
Gene [OrphaNum:122940 ; Name:Keratin 86 ; Symbol:KRT86 ; xref: GENATLAS:KRT86 ; xref: HGNC:6463 ; xref: OMIM:601928 ; xref: UNIPROTKB/SWISSPROT:O43790 ; xref: ENSEMBL:ENSG00000258832]
Gene [OrphaNum:122928 ; Name:Keratin 81 ; Symbol:KRT81 ; xref: GENATLAS:KRT81 ; xref: HGNC:6458 ; xref: OMIM:602153 ; xref: UNIPROTKB/SWISSPROT:Q14533 ; xref: ENSEMBL:ENSG00000205426]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573
Gene [OrphaNum:122932 ; Name:Keratin 83 ; Symbol:KRT83 ; xref: GENATLAS:KRT83 ; xref: HGNC:6460 ; xref: OMIM:602765 ; xref: UNIPROTKB/SWISSPROT:P78385 ; xref: ENSEMBL:ENSG00000170523]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=719
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=865
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=866
Arrhythmogenic right ventricular cardiomyopathy
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247
prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant;
Gene [OrphaNum:183928 ; Name:Nucleoporin 155kDa ; Symbol:NUP155 ; xref: ENSEMBL:ENSG00000113569 ; xref: REACTOME:O75694 ; xref: GENATLAS:NUP155 ; xref: HGNC:8063 ; xref: OMIM:606694 ; xref: UNIPROTKB/SWISSPROT:O75694]
Gene [OrphaNum:168086 ; Name:Potassium voltage-gated channel, shaker-related subfamily, member 5 ; Symbol:KCNA5 ; xref: GENATLAS:KCNA5 ; xref: HGNC:6224 ; xref: OMIM:176267 ; xref: UNIPROTKB/SWISSPROT:P22460 ; xref: REACTOME:P22460 ; xref: IUPHAR:542 ; xref: ENSEMBL:ENSG00000130037]
Gene [OrphaNum:205584 ; Name:Natriuretic peptide precursor A ; Symbol:NPPA ; xref: REACTOME:P01160 ; xref: ENSEMBL:ENSG00000175206 ; xref: GENATLAS:NPPA ; xref: HGNC:7939 ; xref: OMIM:108780 ; xref: UNIPROTKB/SWISSPROT:P01160]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334
Gene [OrphaNum:304191 ; Name:GATA binding protein 5 ; Symbol:GATA5 ; xref: HGNC:15802 ; xref: OMIM:611496 ; xref: GENATLAS:GATA5 ; xref: UNIPROTKB/SWISSPROT:Q9BWX5]
Gene [OrphaNum:138503 ; Name:Gap junction protein, alpha 5, 40kDa ; Symbol:GJA5 ; xref: GENATLAS:GJA5 ; xref: HGNC:4279 ; xref: OMIM:121013 ; xref: UNIPROTKB/SWISSPROT:P36382 ; xref: ENSEMBL:ENSG00000143140 ; xref: REACTOME:P36382]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615
Familial idiopathic dilatation of the right atrium
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897
Gene [OrphaNum:304694 ; Name:Caspase recruitment domain family, member 14 ; Symbol:CARD14 ; xref: HGNC:16446 ; xref: OMIM:607211 ; xref: GENATLAS:CARD14 ; xref: UNIPROTKB/SWISSPROT:Q9BXL6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Gene [OrphaNum:119502 ; Name:Adenosine deaminase, RNA-specific ; Symbol:ADAR ; xref: ENSEMBL:ENSG00000160710 ; xref: REACTOME:P55265 ; xref: GENATLAS:ADAR ; xref: HGNC:225 ; xref: OMIM:146920 ; xref: UNIPROTKB/SWISSPROT:P55265]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41
Fibrofolliculomas with trichodiscomas and acrochordons
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant;
Gene [OrphaNum:120940 ; Name:Cylindromatosis (turban tumor syndrome) ; Symbol:CYLD ; xref: REACTOME:Q9NQC7 ; xref: GENATLAS:CYLD ; xref: HGNC:2584 ; xref: OMIM:605018 ; xref: UNIPROTKB/SWISSPROT:Q9NQC7 ; xref: ENSEMBL:ENSG00000083799]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Sporadic;
Gene [OrphaNum:158401 ; Name:Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ; Symbol:SLC11A1 ; xref: ENSEMBL:ENSG00000018280 ; xref: REACTOME:P49279 ; xref: GENATLAS:SLC11A1 ; xref: HGNC:10907 ; xref: OMIM:600266 ; xref: UNIPROTKB/SWISSPROT:P49279]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3389
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241
Progressive symmetric erythrokeratodermia
Progressiva symmetrica erythrokeratodermia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315
prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-Normal; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=338
Palmoplantar keratoderma - sclerodactyly
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384
Non-epidermolytic palmoplantar keratoderma
Gene [OrphaNum:225368 ; Name:Keratin 6C ; Symbol:KRT6C ; xref: ENSEMBL:ENSG00000170465 ; xref: GENATLAS:KRT6C ; xref: HGNC:20406 ; xref: UNIPROTKB/SWISSPROT:P48668 ; xref: OMIM:612315]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314
Familial leiomyomatosis with renal carcinoma
Familial leiomyomatosis with renal cell cancer
Hereditary leiomyomatosis with renal carcinoma
Hereditary leiomyomatosis with renal cell cancer
Hereditary multiple cutaneous leiomyomas
Multiple cutaneous and uterine leiomyomas
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523
Gene [OrphaNum:121261 ; Name:Extracellular matrix protein 1 ; Symbol:ECM1 ; xref: GENATLAS:ECM1 ; xref: HGNC:3153 ; xref: OMIM:602201 ; xref: UNIPROTKB/SWISSPROT:Q16610 ; xref: ENSEMBL:ENSG00000143369]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530
Keratodermia palmoplantar periorificial, Olmsted type
Gene [OrphaNum:294456 ; Name:Transient receptor potential cation channel, subfamily V, member 3 ; Symbol:TRPV3 ; xref: HGNC:18084 ; xref: OMIM:607066 ; xref: GENATLAS:TRPV3 ; xref: UNIPROTKB/SWISSPROT:Q8NET8]
prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735
prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=736
Porokeratosis plantaris palmaris and disseminata
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737
prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679
prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Normosmic congenital hypogonadotropic hypogonadism
Isolated congenital gonadotropin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432
Gene [OrphaNum:178814 ; Name:Tachykinin 3 ; Symbol:TAC3 ; xref: GENATLAS:TAC3 ; xref: HGNC:11521 ; xref: OMIM:162330 ; xref: UNIPROTKB/SWISSPROT:Q9UHF0 ; xref: ENSEMBL:ENSG00000166863 ; xref: REACTOME:Q9UHF0]
Gene [OrphaNum:122226 ; Name:Gonadotropin-releasing hormone receptor ; Symbol:GNRHR ; xref: GENATLAS:GNRHR ; xref: HGNC:4421 ; xref: OMIM:138850 ; xref: UNIPROTKB/SWISSPROT:P30968 ; xref: ENSEMBL:ENSG00000109163 ; xref: IUPHAR:256 ; xref: REACTOME:P30968]
Gene [OrphaNum:159628 ; Name:Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) ; Symbol:GNRH1 ; xref: ENSEMBL:ENSG00000147437 ; xref: GENATLAS:GNRH1 ; xref: HGNC:4419 ; xref: OMIM:152760 ; xref: UNIPROTKB/SWISSPROT:P01148 ; xref: REACTOME:P01148]
Gene [OrphaNum:178819 ; Name:Tachykinin receptor 3 ; Symbol:TACR3 ; xref: GENATLAS:TACR3 ; xref: HGNC:11528 ; xref: OMIM:162332 ; xref: UNIPROTKB/SWISSPROT:P29371 ; xref: REACTOME:P29371 ; xref: IUPHAR:362 ; xref: ENSEMBL:ENSG00000169836]
Gene [OrphaNum:122857 ; Name:KISS1 receptor ; Symbol:KISS1R ; xref: GENATLAS:KISS1R ; xref: HGNC:4510 ; xref: OMIM:604161 ; xref: UNIPROTKB/SWISSPROT:Q969F8 ; xref: ENSEMBL:ENSG00000116014 ; xref: IUPHAR:266 ; xref: REACTOME:Q969F8]
Gene [OrphaNum:292693 ; Name:KiSS-1 metastasis-suppressor ; Symbol:KISS1 ; xref: HGNC:6341 ; xref: OMIM:603286 ; xref: GENATLAS:KISS1 ; xref: UNIPROTKB/SWISSPROT:Q15726]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786
Gene [OrphaNum:123916 ; Name:Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) ; Symbol:NR3C1 ; xref: GENATLAS:NR3C1 ; xref: HGNC:7978 ; xref: OMIM:138040 ; xref: UNIPROTKB/SWISSPROT:P04150 ; xref: IUPHAR:625 ; xref: ENSEMBL:ENSG00000113580 ; xref: REACTOME:P04150]
Gonadotropin-dependant precocious puberty
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=759
Nonacquired combined pituitary hormone deficiency
Congenital combined pituitary hormone deficiency
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310
X-linked thrombocytopenia with normal platelets
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852
Congenital plasminogen activator inhibitor type 1 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465
Gene [OrphaNum:118613 ; Name:Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 ; Symbol:SERPINE1 ; xref: GENATLAS:SERPINE1 ; xref: HGNC:8583 ; xref: OMIM:173360 ; xref: UNIPROTKB/SWISSPROT:P05121 ; xref: ENSEMBL:ENSG00000106366 ; xref: REACTOME:P05121]
Congenital high-molecular-weight kininogen deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483
Gene [OrphaNum:122875 ; Name:Kininogen 1 ; Symbol:KNG1 ; xref: GENATLAS:KNG1 ; xref: HGNC:6383 ; xref: OMIM:612358 ; xref: UNIPROTKB/SWISSPROT:P01042 ; xref: ENSEMBL:ENSG00000113889 ; xref: REACTOME:P01042]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722
prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic;
Gene [OrphaNum:122872 ; Name:Kallikrein B, plasma (Fletcher factor) 1 ; Symbol:KLKB1 ; xref: GENATLAS:KLKB1 ; xref: HGNC:6371 ; xref: OMIM:229000 ; xref: UNIPROTKB/SWISSPROT:P03952 ; xref: REACTOME:P03952 ; xref: ENSEMBL:ENSG00000164344]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721
Gene [OrphaNum:279603 ; Name:Neurobeachin-like 2 ; Symbol:NBEAL2 ; xref: ENSEMBL:ENSG00000160796 ; xref: HGNC:31928 ; xref: UNIPROTKB/SWISSPROT:Q6ZNJ1 ; xref: OMIM:614169]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237
Autosomal recessive limb girdle muscular dystrophy type 2A
Limb girdle muscular dystrophy due to calpain deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267
Gene [OrphaNum:119172 ; Name:Calpain 3, (p94) ; Symbol:CAPN3 ; xref: GENATLAS:CAPN3 ; xref: HGNC:1480 ; xref: OMIM:114240 ; xref: UNIPROTKB/SWISSPROT:P20807 ; xref: ENSEMBL:ENSG00000092529]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=491
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620
Autosomal recessive limb-girdle muscular dystrophy type 2E
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
Gene [OrphaNum:118653 ; Name:Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) ; Symbol:SGCB ; xref: GENATLAS:SGCB ; xref: HGNC:10806 ; xref: OMIM:600900 ; xref: UNIPROTKB/SWISSPROT:Q16585 ; xref: ENSEMBL:ENSG00000163069]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119
Autosomal recessive limb-girdle muscular dystrophy type 2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Gene [OrphaNum:118666 ; Name:Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) ; Symbol:SGCG ; xref: GENATLAS:SGCG ; xref: HGNC:10809 ; xref: OMIM:608896 ; xref: UNIPROTKB/SWISSPROT:Q13326 ; xref: ENSEMBL:ENSG00000102683]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353
Autosomal recessive limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219
Autosomal dominant limb-girdle muscular dystrophy type 1A
Limb-girdle muscular dystrophy due to myotilin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=266
Autosomal dominant limb-girdle muscular dystrophy type 1B
Limb-girdle muscular dystrophy due to lamin A/C deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264
Gene [OrphaNum:122002 ; Name:Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) ; Symbol:GALNS ; xref: GENATLAS:GALNS ; xref: HGNC:4122 ; xref: OMIM:253000 ; xref: UNIPROTKB/SWISSPROT:P34059 ; xref: ENSEMBL:ENSG00000141012]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Autosomal recessive limb-girdle muscular dystrophy type 2B
Limb-girdle muscular dystrophy due to dysferlin deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268
Autosomal dominant limb-girdle muscular dystrophy type 1C
Limb-girdle muscular dystrophy due to caveolin-3 deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=265
Congenital muscular dystrophy, Fukuyama type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272
Hydrocephalus - agyria - retinal dysplasia
Hydrocephalus-agyria-retinal dysplasia syndrome
Gene [OrphaNum:302938 ; Name:Isoprenoid synthase domain containing ; Symbol:ISPD ; xref: HGNC:37276 ; xref: OMIM:614631 ; xref: UNIPROTKB/SWISSPROT:A4D126]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899
Gene [OrphaNum:117935 ; Name:Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase ; Symbol:POMGNT1 ; xref: GENATLAS:POMGNT1 ; xref: HGNC:19139 ; xref: OMIM:606822 ; xref: UNIPROTKB/SWISSPROT:Q8WZA1 ; xref: ENSEMBL:ENSG00000085998]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609
Distal myopathy with vocal cord weakness
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600
Gene [OrphaNum:189131 ; Name:Matrin 3 ; Symbol:MATR3 ; xref: ENSEMBL:ENSG00000015479 ; xref: GENATLAS:MATR3 ; xref: HGNC:6912 ; xref: OMIM:164015 ; xref: UNIPROTKB/SWISSPROT:P43243]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=278
Continuous spike-wave during slow sleep syndrome
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590
Gene [OrphaNum:259368 ; Name:glutamine--fructose-6-phosphate transaminase 1 ; Symbol:GFPT1 ; xref: REACTOME:Q06210 ; xref: ENSEMBL:ENSG00000198380 ; xref: HGNC:4241 ; xref: OMIM:138292 ; xref: GENATLAS:GFPT1 ; xref: UNIPROTKB/SWISSPROT:Q06210]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320
Gene [OrphaNum:122502 ; Name:Hydroxysteroid (11-beta) dehydrogenase 2 ; Symbol:HSD11B2 ; xref: GENATLAS:HSD11B2 ; xref: HGNC:5209 ; xref: OMIM:614232 ; xref: UNIPROTKB/SWISSPROT:P80365 ; xref: ENSEMBL:ENSG00000176387]
Gene [OrphaNum:121022 ; Name:Dopamine beta-hydroxylase (dopamine beta-monooxygenase) ; Symbol:DBH ; xref: GENATLAS:DBH ; xref: HGNC:2689 ; xref: OMIM:609312 ; xref: UNIPROTKB/SWISSPROT:P09172 ; xref: REACTOME:P09172 ; xref: ENSEMBL:ENSG00000123454]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824
Gene [OrphaNum:268325 ; Name:tet oncogene family member 2 ; Symbol:TET2 ; xref: ENSEMBL:ENSG00000168769 ; xref: HGNC:25941 ; xref: OMIM:612839 ; xref: GENATLAS:TET2 ; xref: UNIPROTKB/SWISSPROT:Q6N021]
prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null;
Mendelian susceptibility to mycobacterial diseases
Idiopathic infection caused by BCG or atypical mycobacteria
Mendelian susceptibility to atypical mycobacteria
Mendelian susceptibility to mycobacterial infections
Gene [OrphaNum:122580 ; Name:Interferon gamma receptor 2 (interferon gamma transducer 1) ; Symbol:IFNGR2 ; xref: GENATLAS:IFNGR2 ; xref: HGNC:5440 ; xref: OMIM:147569 ; xref: UNIPROTKB/SWISSPROT:P38484 ; xref: ENSEMBL:ENSG00000159128 ; xref: REACTOME:P38484]
Gene [OrphaNum:122576 ; Name:Interferon gamma receptor 1 ; Symbol:IFNGR1 ; xref: GENATLAS:IFNGR1 ; xref: HGNC:5439 ; xref: OMIM:107470 ; xref: UNIPROTKB/SWISSPROT:P15260 ; xref: ENSEMBL:ENSG00000027697 ; xref: REACTOME:P15260]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=748
Gene [OrphaNum:122629 ; Name:Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) ; Symbol:IL12B ; xref: ENSEMBL:ENSG00000113302 ; xref: GENATLAS:IL12B ; xref: HGNC:5970 ; xref: OMIM:161561 ; xref: UNIPROTKB/SWISSPROT:P29460]
Gene [OrphaNum:122634 ; Name:Interleukin 12 receptor, beta 1 ; Symbol:IL12RB1 ; xref: GENATLAS:IL12RB1 ; xref: HGNC:5971 ; xref: OMIM:601604 ; xref: UNIPROTKB/SWISSPROT:P42701 ; xref: ENSEMBL:ENSG00000096996]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1136
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Unknown;
Gene [OrphaNum:122574 ; Name:Interferon, gamma ; Symbol:IFNG ; xref: GENATLAS:IFNG ; xref: HGNC:5438 ; xref: OMIM:147570 ; xref: UNIPROTKB/SWISSPROT:P01579 ; xref: REACTOME:P01579 ; xref: ENSEMBL:ENSG00000111537]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88
Macrothrombocytopenia with leukocyte inclusions
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=807
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968
X-linked myopathy with excessive autophagy
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980
Gene [OrphaNum:189325 ; Name:VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) ; Symbol:VMA21 ; xref: ENSEMBL:ENSG00000160131 ; xref: HGNC:22082 ; xref: OMIM:310440 ; xref: UNIPROTKB/SWISSPROT:Q3ZAQ7 ; xref: GENATLAS:VMA21]
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial;
Gene [OrphaNum:119276 ; Name:Cadherin 1, type 1, E-cadherin (epithelial) ; Symbol:CDH1 ; xref: GENATLAS:CDH1 ; xref: HGNC:1748 ; xref: OMIM:192090 ; xref: UNIPROTKB/SWISSPROT:P12830 ; xref: REACTOME:P12830 ; xref: ENSEMBL:ENSG00000039068]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106
Electron transfer flavoprotein deficiency
Electron transfer flavoprotein ubiquinone oxidoreductase deficiency
Multiple acyl-CoA dehydrogenase deficiency
Gene [OrphaNum:121624 ; Name:Electron-transfer-flavoprotein, beta polypeptide ; Symbol:ETFB ; xref: GENATLAS:ETFB ; xref: HGNC:3482 ; xref: OMIM:130410 ; xref: UNIPROTKB/SWISSPROT:P38117 ; xref: ENSEMBL:ENSG00000105379 ; xref: REACTOME:P38117]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791
Gene [OrphaNum:121619 ; Name:Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) ; Symbol:ETFA ; xref: GENATLAS:ETFA ; xref: HGNC:3481 ; xref: OMIM:608053 ; xref: UNIPROTKB/SWISSPROT:P13804 ; xref: REACTOME:P13804 ; xref: ENSEMBL:ENSG00000140374]
Gene [OrphaNum:121626 ; Name:Electron-transferring-flavoprotein dehydrogenase ; Symbol:ETFDH ; xref: GENATLAS:ETFDH ; xref: HGNC:3483 ; xref: OMIM:231675 ; xref: UNIPROTKB/SWISSPROT:Q16134 ; xref: REACTOME:Q16134 ; xref: ENSEMBL:ENSG00000171503]
Deficiency of short chain acyl-CoA dehydrogenase
Short chain Acyl-CoA dehydrogenase deficiency
Gene [OrphaNum:117705 ; Name:Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain ; Symbol:ACADS ; xref: GENATLAS:ACADS ; xref: HGNC:90 ; xref: OMIM:606885 ; xref: UNIPROTKB/SWISSPROT:P16219 ; xref: REACTOME:P16219 ; xref: ENSEMBL:ENSG00000122971]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792
Very long chain acyl-CoA dehydrogenase deficiency
Gene [OrphaNum:117713 ; Name:Acyl-Coenzyme A dehydrogenase, very long chain ; Symbol:ACADVL ; xref: GENATLAS:ACADVL ; xref: HGNC:92 ; xref: OMIM:609575 ; xref: UNIPROTKB/SWISSPROT:P49748 ; xref: REACTOME:P49748 ; xref: ENSEMBL:ENSG00000072778]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793
Keratosis palmoplantaris - corneal dystrophy
Tyrosinemia due to tyrosine aminotransferase deficiency
Gene [OrphaNum:119928 ; Name:Tyrosine aminotransferase ; Symbol:TAT ; xref: GENATLAS:TAT ; xref: HGNC:11573 ; xref: UNIPROTKB/SWISSPROT:P17735 ; xref: OMIM:613018 ; xref: REACTOME:P17735 ; xref: ENSEMBL:ENSG00000198650]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28455
Hereditary pheochromocytoma-paraganglioma
SDHx-related paraganglioma-pheochromocytoma
Gene [OrphaNum:290420 ; Name:MYC associated factor X ; Symbol:MAX ; xref: HGNC:6913 ; xref: OMIM:154950 ; xref: GENATLAS:MAX ; xref: UNIPROTKB/SWISSPROT:P61244 ; xref: ENSEMBL:ENSG00000125952 ; xref: REACTOME:P61244]
Gene [OrphaNum:227079 ; Name:Transmembrane protein 127 ; Symbol:TMEM127 ; xref: HGNC:26038 ; xref: UNIPROTKB/SWISSPROT:O75204 ; xref: ENSEMBL:ENSG00000135956 ; xref: GENATLAS:TMEM127 ; xref: OMIM:613403]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072
prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal dominant;
Gene [OrphaNum:209279 ; Name:Succinate dehydrogenase complex assembly factor 2 ; Symbol:SDHAF2 ; xref: OMIM:613019 ; xref: UNIPROTKB/SWISSPROT:Q9NX18 ; xref: ENSEMBL:ENSG00000167985 ; xref: HGNC:26034 ; xref: GENATLAS:SDHAF2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398
prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391
Gene [OrphaNum:119596 ; Name:Aldehyde dehydrogenase 7 family, member A1 ; Symbol:ALDH7A1 ; xref: GENATLAS:ALDH7A1 ; xref: HGNC:877 ; xref: OMIM:107323 ; xref: UNIPROTKB/SWISSPROT:P49419 ; xref: REACTOME:P49419 ; xref: ENSEMBL:ENSG00000164904]
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006
Gene [OrphaNum:292437 ; Name:Solute carrier organic anion transporter family, member 1B3 ; Symbol:SLCO1B3 ; xref: GENATLAS:SLCO1B3 ; xref: HGNC:10961 ; xref: OMIM:605495 ; xref: UNIPROTKB/SWISSPROT:Q9NPD5]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111
Gene [OrphaNum:241999 ; Name:Solute carrier organic anion transporter family, member 1B1 ; Symbol:SLCO1B1 ; xref: GENATLAS:SLCO1B1 ; xref: HGNC:10959 ; xref: UNIPROTKB/SWISSPROT:Q9Y6L6 ; xref: OMIM:604843 ; xref: REACTOME:Q9Y6L6 ; xref: ENSEMBL:ENSG00000134538]
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic;
Gene [OrphaNum:248276 ; Name:Mitogen-activated protein kinase 10 ; Symbol:MAPK10 ; xref: REACTOME:P53779 ; xref: ENSEMBL:ENSG00000109339 ; xref: GENATLAS:MAPK10 ; xref: HGNC:6872 ; xref: OMIM:602897 ; xref: UNIPROTKB/SWISSPROT:P53779]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382
Gene [OrphaNum:122402 ; Name:Hexosaminidase A (alpha polypeptide) ; Symbol:HEXA ; xref: GENATLAS:HEXA ; xref: HGNC:4878 ; xref: OMIM:606869 ; xref: UNIPROTKB/SWISSPROT:P06865 ; xref: ENSEMBL:ENSG00000213614 ; xref: REACTOME:P06865]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845
Gene [OrphaNum:122192 ; Name:GM2 ganglioside activator ; Symbol:GM2A ; xref: ENSEMBL:ENSG00000196743 ; xref: GENATLAS:GM2A ; xref: HGNC:4367 ; xref: UNIPROTKB/SWISSPROT:P17900 ; xref: OMIM:613109 ; xref: REACTOME:P17900]
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression-bursts
Gene [OrphaNum:258534 ; Name:phospholipase C, beta 1 ; Symbol:PLCB1 ; xref: ENSEMBL:ENSG00000182621 ; xref: REACTOME:Q9NQ66 ; xref: HGNC:15917 ; xref: OMIM:607120 ; xref: GENATLAS:PLCB1 ; xref: UNIPROTKB/SWISSPROT:Q9NQ66]
Gene [OrphaNum:118803 ; Name:Solute carrier family 25 (mitochondrial carrier: glutamate), member 22 ; Symbol:SLC25A22 ; xref: GENATLAS:SLC25A22 ; xref: HGNC:19954 ; xref: OMIM:609302 ; xref: UNIPROTKB/SWISSPROT:Q9H936 ; xref: ENSEMBL:ENSG00000177542]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934
Gene [OrphaNum:235187 ; Name:Spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) ; Symbol:SPTAN1 ; xref: REACTOME:Q13813 ; xref: ENSEMBL:ENSG00000197694 ; xref: HGNC:11273 ; xref: GENATLAS:SPTAN1 ; xref: OMIM:182810 ; xref: UNIPROTKB/SWISSPROT:Q13813]
Gene [OrphaNum:293928 ; Name:Sodium channel, voltage gated, type VIII, alpha subunit ; Symbol:SCN8A ; xref: GENATLAS:SCN8A ; xref: UNIPROTKB/SWISSPROT:Q9UQD0 ; xref: HGNC:10596 ; xref: OMIM:600702]
Gene [OrphaNum:166683 ; Name:Syntaxin binding protein 1 ; Symbol:STXBP1 ; xref: GENATLAS:STXBP1 ; xref: HGNC:11444 ; xref: OMIM:602926 ; xref: UNIPROTKB/SWISSPROT:P61764 ; xref: ENSEMBL:ENSG00000136854 ; xref: REACTOME:P61764]
Early myoclonic encephalopathy with suppression-bursts
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1935
Epilepsy with myoclonic-astatic seizures
Myoclonic-astatic epilepsy in early childhood
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942
Infant epilepsy with migrant focal crisis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943
Gene [OrphaNum:286610 ; Name:Membrane associated guanylate kinase, WW and PDZ domain containing 2 ; Symbol:MAGI2 ; xref: UNIPROTKB/SWISSPROT:Q86UL8 ; xref: GENATLAS:MAGI2 ; xref: HGNC:18957 ; xref: OMIM:606382 ; xref: REACTOME:Q86UL8 ; xref: ENSEMBL:ENSG00000187391]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446
Gene [OrphaNum:121487 ; Name:ATPase, Class V, type 10A ; Symbol:ATP10A ; xref: GENATLAS:ATP10A ; xref: HGNC:13542 ; xref: OMIM:605855 ; xref: UNIPROTKB/SWISSPROT:O60312 ; xref: ENSEMBL:ENSG00000206190]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72
Gene [OrphaNum:159128 ; Name:Cytoplasmic FMR1 interacting protein 1 ; Symbol:CYFIP1 ; xref: GENATLAS:CYFIP1 ; xref: HGNC:13759 ; xref: OMIM:606322 ; xref: UNIPROTKB/SWISSPROT:Q7L576 ; xref: ENSEMBL:ENSG00000068793]
Alpha thalassemia - X-linked intellectual deficit
Alpha thalassemia - retardation syndrome, X-linked
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847
Carnitine palmitoyl transferase II deficiency
Carnitine palmitoyltransferase deficiency type 2
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331
Gene [OrphaNum:233066 ; Name:Microseminoprotein, beta- ; Symbol:MSMB ; xref: ENSEMBL:ENSG00000138294 ; xref: GENATLAS:MSMB ; xref: HGNC:7372 ; xref: UNIPROTKB/SWISSPROT:P08118 ; xref: OMIM:157145]
Gene [OrphaNum:121567 ; Name:EPH receptor B2 ; Symbol:EPHB2 ; xref: GENATLAS:EPHB2 ; xref: HGNC:3393 ; xref: OMIM:600997 ; xref: UNIPROTKB/SWISSPROT:P29323 ; xref: REACTOME:P29323 ; xref: ENSEMBL:ENSG00000133216]
Gene [OrphaNum:121513 ; Name:ElaC homolog 2 (E. coli) ; Symbol:ELAC2 ; xref: GENATLAS:ELAC2 ; xref: HGNC:14198 ; xref: OMIM:605367 ; xref: UNIPROTKB/SWISSPROT:Q9BQ52 ; xref: ENSEMBL:ENSG00000006744]
Gene [OrphaNum:118344 ; Name:Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) ; Symbol:RNASEL ; xref: GENATLAS:RNASEL ; xref: HGNC:10050 ; xref: OMIM:180435 ; xref: UNIPROTKB/SWISSPROT:Q05823 ; xref: REACTOME:Q05823 ; xref: ENSEMBL:ENSG00000135828]
Gene [OrphaNum:123590 ; Name:MAX interactor 1 ; Symbol:MXI1 ; xref: GENATLAS:MXI1 ; xref: HGNC:7534 ; xref: OMIM:600020 ; xref: UNIPROTKB/SWISSPROT:P50539 ; xref: ENSEMBL:ENSG00000119950]
Gene [OrphaNum:292052 ; Name:Homeobox B13 ; Symbol:HOXB13 ; xref: HGNC:5112 ; xref: OMIM:604607 ; xref: GENATLAS:HOXB13 ; xref: ENSEMBL:ENSG00000159184 ; xref: UNIPROTKB/SWISSPROT:Q92826]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653
Gene [OrphaNum:121084 ; Name:Disrupted in renal carcinoma 1 ; Symbol:DIRC1 ; xref: GENATLAS:DIRC1 ; xref: HGNC:15760 ; xref: OMIM:606423 ; xref: UNIPROTKB/SWISSPROT:Q969H9 ; xref: ENSEMBL:ENSG00000174325]
Gene [OrphaNum:121826 ; Name:Fragile histidine triad gene ; Symbol:FHIT ; xref: GENATLAS:FHIT ; xref: HGNC:3701 ; xref: OMIM:601153 ; xref: UNIPROTKB/SWISSPROT:P49789 ; xref: ENSEMBL:ENSG00000189283]
Gene [OrphaNum:121086 ; Name:Disrupted in renal carcinoma 2 ; Symbol:DIRC2 ; xref: GENATLAS:DIRC2 ; xref: HGNC:16628 ; xref: OMIM:602773 ; xref: UNIPROTKB/SWISSPROT:Q96SL1 ; xref: ENSEMBL:ENSG00000138463]
prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null;
Gene [OrphaNum:123989 ; Name:8-oxoguanine DNA glycosylase ; Symbol:OGG1 ; xref: GENATLAS:OGG1 ; xref: HGNC:8125 ; xref: OMIM:601982 ; xref: UNIPROTKB/SWISSPROT:O15527 ; xref: REACTOME:O15527 ; xref: ENSEMBL:ENSG00000114026]
Gene [OrphaNum:118347 ; Name:Ring finger protein 139 ; Symbol:RNF139 ; xref: OMIM:603046 ; xref: UNIPROTKB/SWISSPROT:Q8WU17 ; xref: GENATLAS:RNF139 ; xref: HGNC:17023 ; xref: ENSEMBL:ENSG00000170881]
Gene [OrphaNum:122538 ; Name:HSPB (heat shock 27kDa) associated protein 1 ; Symbol:HSPBAP1 ; xref: ENSEMBL:ENSG00000169087 ; xref: GENATLAS:HSPBAP1 ; xref: HGNC:16389 ; xref: OMIM:608263 ; xref: UNIPROTKB/SWISSPROT:Q96EW2]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=151
prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- X-linked dominant;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574
Gene [OrphaNum:167870 ; Name:Glypican 4 ; Symbol:GPC4 ; xref: GENATLAS:GPC4 ; xref: HGNC:4452 ; xref: OMIM:300168 ; xref: UNIPROTKB/SWISSPROT:O75487 ; xref: ENSEMBL:ENSG00000076716]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403
Thiopurine S-methyltransferase deficiency
Gene [OrphaNum:120231 ; Name:Thiopurine S-methyltransferase ; Symbol:TPMT ; xref: GENATLAS:TPMT ; xref: HGNC:12014 ; xref: OMIM:187680 ; xref: UNIPROTKB/SWISSPROT:P51580 ; xref: REACTOME:P51580 ; xref: ENSEMBL:ENSG00000137364]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3315
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327
Gene [OrphaNum:121675 ; Name:Coagulation factor VII (serum prothrombin conversion accelerator) ; Symbol:F7 ; xref: GENATLAS:F7 ; xref: HGNC:3544 ; xref: UNIPROTKB/SWISSPROT:P08709 ; xref: OMIM:613878 ; xref: ENSEMBL:ENSG00000057593 ; xref: REACTOME:P08709]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342
Gene [OrphaNum:123191 ; Name:Mediterranean fever ; Symbol:MEFV ; xref: GENATLAS:MEFV ; xref: HGNC:6998 ; xref: OMIM:608107 ; xref: UNIPROTKB/SWISSPROT:O15553 ; xref: REACTOME:O15553 ; xref: ENSEMBL:ENSG00000103313]
prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- X-linked recessive;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180
Gene [OrphaNum:119402 ; Name:Choroideremia (Rab escort protein 1) ; Symbol:CHM ; xref: GENATLAS:CHM ; xref: HGNC:1940 ; xref: OMIM:300390 ; xref: UNIPROTKB/SWISSPROT:P24386 ; xref: ENSEMBL:ENSG00000188419]
Gene [OrphaNum:123966 ; Name:Nyctalopin ; Symbol:NYX ; xref: GENATLAS:NYX ; xref: HGNC:8082 ; xref: OMIM:300278 ; xref: UNIPROTKB/SWISSPROT:Q9GZU5 ; xref: ENSEMBL:ENSG00000188937]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215
Gene [OrphaNum:122291 ; Name:Glutamate receptor, metabotropic 6 ; Symbol:GRM6 ; xref: GENATLAS:GRM6 ; xref: HGNC:4598 ; xref: OMIM:604096 ; xref: UNIPROTKB/SWISSPROT:O15303 ; xref: REACTOME:O15303 ; xref: IUPHAR:294 ; xref: ENSEMBL:ENSG00000113262]
prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive;
Gene [OrphaNum:122202 ; Name:Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 ; Symbol:GNAT1 ; xref: GENATLAS:GNAT1 ; xref: HGNC:4393 ; xref: OMIM:139330 ; xref: UNIPROTKB/SWISSPROT:P11488 ; xref: ENSEMBL:ENSG00000114349 ; xref: REACTOME:P11488]
Gene [OrphaNum:119127 ; Name:Calcium binding protein 4 ; Symbol:CABP4 ; xref: GENATLAS:CABP4 ; xref: HGNC:1386 ; xref: OMIM:608965 ; xref: UNIPROTKB/SWISSPROT:P57796 ; xref: ENSEMBL:ENSG00000175544]
Gene [OrphaNum:244378 ; Name:Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ; Symbol:SLC24A1 ; xref: GENATLAS:SLC24A1 ; xref: HGNC:10975 ; xref: OMIM:603617 ; xref: UNIPROTKB/SWISSPROT:O60721 ; xref: ENSEMBL:ENSG00000074621 ; xref: REACTOME:O60721]
Gene [OrphaNum:292381 ; Name:G protein-coupled receptor 179 ; Symbol:GPR179 ; xref: GENATLAS:GPR179 ; xref: UNIPROTKB/SWISSPROT:Q6PRD1 ; xref: OMIM:614515 ; xref: HGNC:31371]
Gene [OrphaNum:225280 ; Name:Transient receptor potential cation channel, subfamily M, member 1 ; Symbol:TRPM1 ; xref: IUPHAR:493 ; xref: ENSEMBL:ENSG00000134160 ; xref: GENATLAS:TRPM1 ; xref: HGNC:7146 ; xref: OMIM:603576 ; xref: UNIPROTKB/SWISSPROT:Q7Z4N2]
Lecithin-cholesterol acyltransferase deficiency
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427
Gene [OrphaNum:121673 ; Name:Coagulation factor V (proaccelerin, labile factor) ; Symbol:F5 ; xref: GENATLAS:F5 ; xref: HGNC:3542 ; xref: OMIM:612309 ; xref: UNIPROTKB/SWISSPROT:P12259 ; xref: REACTOME:P12259 ; xref: ENSEMBL:ENSG00000198734]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526
Hypomagnesemia caused by selective magnesium malabsorption
Intestinal hypomagnesemia with secondary hypocalcemia
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924
Gene [OrphaNum:120301 ; Name:Transient receptor potential cation channel, subfamily M, member 6 ; Symbol:TRPM6 ; xref: GENATLAS:TRPM6 ; xref: HGNC:17995 ; xref: OMIM:607009 ; xref: UNIPROTKB/SWISSPROT:Q9BX84 ; xref: ENSEMBL:ENSG00000119121 ; xref: IUPHAR:498]
Non-acquired isolated central diabetes insipidus
Gene [OrphaNum:118943 ; Name:Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) ; Symbol:AVP ; xref: GENATLAS:AVP ; xref: HGNC:894 ; xref: OMIM:192340 ; xref: UNIPROTKB/SWISSPROT:P01185 ; xref: ENSEMBL:ENSG00000101200 ; xref: REACTOME:P01185]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925
prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant;
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043
prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Sporadic;
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112
Gene [OrphaNum:168409 ; Name:Platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) ; Symbol:PDGFB ; xref: GENATLAS:PDGFB ; xref: HGNC:8800 ; xref: OMIM:190040 ; xref: UNIPROTKB/SWISSPROT:P01127 ; xref: ENSEMBL:ENSG00000100311 ; xref: REACTOME:P01127]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627
prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked dominant;
Gene [OrphaNum:285081 ; Name:Vacuolar Protein Sorting 35 Homolog (S. cerevisiae) ; Symbol:VPS35 ; xref: HGNC:13487 ; xref: GENATLAS:VPS35 ; xref: OMIM:601501 ; xref: UNIPROTKB/SWISSPROT:Q96QK1 ; xref: ENSEMBL:ENSG00000069329]
Gene [OrphaNum:159799 ; Name:Nuclear receptor subfamily 4, group A, member 2 ; Symbol:NR4A2 ; xref: ENSEMBL:ENSG00000153234 ; xref: REACTOME:P43354 ; xref: GENATLAS:NR4A2 ; xref: HGNC:7981 ; xref: OMIM:601828 ; xref: UNIPROTKB/SWISSPROT:P43354 ; xref: IUPHAR:630]
Gene [OrphaNum:159059 ; Name:GRB10 interacting GYF protein 2 ; Symbol:GIGYF2 ; xref: HGNC:11960 ; xref: OMIM:612003 ; xref: UNIPROTKB/SWISSPROT:Q6Y7W6 ; xref: GENATLAS:GIGYF2 ; xref: ENSEMBL:ENSG00000204120]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828
Gene [OrphaNum:117822 ; Name:PTEN induced putative kinase 1 ; Symbol:PINK1 ; xref: GENATLAS:PINK1 ; xref: HGNC:14581 ; xref: OMIM:608309 ; xref: UNIPROTKB/SWISSPROT:Q9BXM7 ; xref: ENSEMBL:ENSG00000158828]
prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive;
Gene [OrphaNum:120375 ; Name:Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) ; Symbol:UCHL1 ; xref: GENATLAS:UCHL1 ; xref: HGNC:12513 ; xref: OMIM:191342 ; xref: UNIPROTKB/SWISSPROT:P09936 ; xref: ENSEMBL:ENSG00000154277]
Gene [OrphaNum:119763 ; Name:Synuclein, alpha (non A4 component of amyloid precursor) ; Symbol:SNCA ; xref: GENATLAS:SNCA ; xref: HGNC:11138 ; xref: OMIM:163890 ; xref: UNIPROTKB/SWISSPROT:P37840 ; xref: ENSEMBL:ENSG00000145335 ; xref: REACTOME:P37840]
Gene [OrphaNum:124080 ; Name:Parkinson disease (autosomal recessive, juvenile) 2, parkin ; Symbol:PARK2 ; xref: ENSEMBL:ENSG00000185345 ; xref: REACTOME:O60260 ; xref: GENATLAS:PARK2 ; xref: HGNC:8607 ; xref: OMIM:602544 ; xref: UNIPROTKB/SWISSPROT:O60260]
Gene [OrphaNum:122552 ; Name:HtrA serine peptidase 2 ; Symbol:HTRA2 ; xref: GENATLAS:HTRA2 ; xref: HGNC:14348 ; xref: OMIM:606441 ; xref: UNIPROTKB/SWISSPROT:O43464 ; xref: ENSEMBL:ENSG00000115317]
Gene [OrphaNum:123301 ; Name:Leucine-rich repeat kinase 2 ; Symbol:LRRK2 ; xref: GENATLAS:LRRK2 ; xref: HGNC:18618 ; xref: OMIM:609007 ; xref: UNIPROTKB/SWISSPROT:Q5S007 ; xref: ENSEMBL:ENSG00000188906]
Gene [OrphaNum:124084 ; Name:Parkinson disease (autosomal recessive, early onset) 7 ; Symbol:PARK7 ; xref: ENSEMBL:ENSG00000116288 ; xref: GENATLAS:PARK7 ; xref: HGNC:16369 ; xref: OMIM:602533 ; xref: UNIPROTKB/SWISSPROT:Q99497]
Gene [OrphaNum:124056 ; Name:PARK2 co-regulated ; Symbol:PACRG ; xref: GENATLAS:PACRG ; xref: HGNC:19152 ; xref: OMIM:608427 ; xref: UNIPROTKB/SWISSPROT:Q96M98 ; xref: ENSEMBL:ENSG00000112530]
Gene [OrphaNum:285068 ; Name:Eukaryotic Translation Initiation Factor 4 Gamma, 1 ; Symbol:EIF4G1 ; xref: HGNC:3296 ; xref: GENATLAS:EIF4G1 ; xref: OMIM:600495 ; xref: UNIPROTKB/SWISSPROT:Q04637 ; xref: REACTOME:Q04637 ; xref: ENSEMBL:ENSG00000114867]
Gene [OrphaNum:121493 ; Name:ATPase type 13A2 ; Symbol:ATP13A2 ; xref: GENATLAS:ATP13A2 ; xref: HGNC:30213 ; xref: OMIM:610513 ; xref: UNIPROTKB/SWISSPROT:Q9NQ11 ; xref: ENSEMBL:ENSG00000159363]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140
Hereditary sensory and autonomic neuropathy type 4
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642
Gene [OrphaNum:122015 ; Name:Giant axonal neuropathy (gigaxonin) ; Symbol:GAN ; xref: GENATLAS:GAN ; xref: HGNC:4137 ; xref: OMIM:605379 ; xref: UNIPROTKB/SWISSPROT:Q9H2C0 ; xref: REACTOME:Q9H2C0 ; xref: ENSEMBL:ENSG00000127688]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643
Gene [OrphaNum:118265 ; Name:Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) ; Symbol:REG1A ; xref: GENATLAS:REG1A ; xref: HGNC:9951 ; xref: OMIM:167770 ; xref: UNIPROTKB/SWISSPROT:P05451 ; xref: ENSEMBL:ENSG00000115386]
Gene [OrphaNum:118080 ; Name:Protease, serine, 1 (trypsin 1) ; Symbol:PRSS1 ; xref: GENATLAS:PRSS1 ; xref: HGNC:9475 ; xref: OMIM:276000 ; xref: UNIPROTKB/SWISSPROT:P07477 ; xref: ENSEMBL:ENSG00000204983 ; xref: REACTOME:P07477]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676
Gene [OrphaNum:139109 ; Name:Chymotrypsin C (caldecrin) ; Symbol:CTRC ; xref: GENATLAS:CTRC ; xref: HGNC:2523 ; xref: OMIM:601405 ; xref: UNIPROTKB/SWISSPROT:Q99895 ; xref: ENSEMBL:ENSG00000162438]
Gene [OrphaNum:119834 ; Name:Serine peptidase inhibitor, Kazal type 1 ; Symbol:SPINK1 ; xref: GENATLAS:SPINK1 ; xref: HGNC:11244 ; xref: OMIM:167790 ; xref: UNIPROTKB/SWISSPROT:P00995 ; xref: ENSEMBL:ENSG00000164266]
Gene [OrphaNum:139106 ; Name:Protease, serine, 2 (trypsin 2) ; Symbol:PRSS2 ; xref: GENATLAS:PRSS2 ; xref: HGNC:9483 ; xref: OMIM:601564 ; xref: UNIPROTKB/SWISSPROT:P07478 ; xref: REACTOME:P07478]
Gene [OrphaNum:119840 ; Name:Serine peptidase inhibitor, Kazal type 5 ; Symbol:SPINK5 ; xref: GENATLAS:SPINK5 ; xref: HGNC:15464 ; xref: OMIM:605010 ; xref: UNIPROTKB/SWISSPROT:Q9NQ38 ; xref: ENSEMBL:ENSG00000133710]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive;
Gene [OrphaNum:122153 ; Name:Galactosidase, alpha ; Symbol:GLA ; xref: GENATLAS:GLA ; xref: HGNC:4296 ; xref: OMIM:300644 ; xref: UNIPROTKB/SWISSPROT:P06280 ; xref: ENSEMBL:ENSG00000102393 ; xref: REACTOME:P06280]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Atrial tachyarrhythmia with short PR interval
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=844
Gene [OrphaNum:292698 ; Name:Retinoblastoma binding protein 8 ; Symbol:RBBP8 ; xref: HGNC:9891 ; xref: OMIM:604124 ; xref: GENATLAS:RBBP8 ; xref: UNIPROTKB/SWISSPROT:Q99708]
Gene [OrphaNum:118896 ; Name:Ataxia telangiectasia and Rad3 related ; Symbol:ATR ; xref: GENATLAS:ATR ; xref: HGNC:882 ; xref: OMIM:601215 ; xref: UNIPROTKB/SWISSPROT:Q13535 ; xref: ENSEMBL:ENSG00000175054 ; xref: REACTOME:Q13535]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902
prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive;
Gene [OrphaNum:120545 ; Name:Werner syndrome gene ; Symbol:WRN ; xref: GENATLAS:WRN ; xref: HGNC:12791 ; xref: OMIM:604611 ; xref: UNIPROTKB/SWISSPROT:Q14191 ; xref: ENSEMBL:ENSG00000165392]
Gene [OrphaNum:122302 ; Name:General transcription factor IIH, polypeptide 5 ; Symbol:GTF2H5 ; xref: GENATLAS:GTF2H5 ; xref: HGNC:21157 ; xref: OMIM:608780 ; xref: UNIPROTKB/SWISSPROT:Q6ZYL4 ; xref: ENSEMBL:ENSG00000185068]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=670
Familial progressive cardiac conduction defect
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871
Gene [OrphaNum:209301 ; Name:Transient receptor potential cation channel, subfamily M, member 4 ; Symbol:TRPM4 ; xref: ENSEMBL:ENSG00000130529 ; xref: IUPHAR:496 ; xref: GENATLAS:TRPM4 ; xref: HGNC:17993 ; xref: OMIM:606936 ; xref: UNIPROTKB/SWISSPROT:Q8TD43]
Trichothiodystrophy with congenital ichthyosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453
Cleft lip and/or palate with mucous cysts of lower lip
Gene [OrphaNum:300059 ; Name:WD repeat domain 65 ; Symbol:WDR65 ; xref: HGNC:26485 ; xref: OMIM:614259 ; xref: GENATLAS:WDR65 ; xref: UNIPROTKB/SWISSPROT:Q96MR6]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888
Gene [OrphaNum:118958 ; Name:Beta 1,3-galactosyltransferase-like ; Symbol:B3GALTL ; xref: GENATLAS:B3GALTL ; xref: HGNC:20207 ; xref: OMIM:610308 ; xref: UNIPROTKB/SWISSPROT:Q6Y288 ; xref: ENSEMBL:ENSG00000187676]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Autosomal recessive polycystic kidney disease
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731
Gene [OrphaNum:121610 ; Name:Establishment of cohesion 1 homolog 2 (S. cerevisiae) ; Symbol:ESCO2 ; xref: GENATLAS:ESCO2 ; xref: HGNC:27230 ; xref: OMIM:609353 ; xref: UNIPROTKB/SWISSPROT:Q56NI9 ; xref: ENSEMBL:ENSG00000171320]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103
X-linked intellectual deficit with marfanoid habitus
X-linked mental retardation with marfanoid habitus
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776
Gene [OrphaNum:138486 ; Name:Mediator complex subunit 12 ; Symbol:MED12 ; xref: GENATLAS:MED12 ; xref: HGNC:11957 ; xref: OMIM:300188 ; xref: UNIPROTKB/SWISSPROT:Q93074 ; xref: ENSEMBL:ENSG00000184634 ; xref: REACTOME:Q93074]
Infantile convulsions and choreoathetosis
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344
Uveal coloboma - cleft lip and palate - intellectual deficit
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=194
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189
Severe combined immunodeficiency, alymphocytotic type
Severe combined immunodeficiency, Athabaskan type
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275
Gene [OrphaNum:118689 ; Name:SH3-domain binding protein 2 ; Symbol:SH3BP2 ; xref: GENATLAS:SH3BP2 ; xref: HGNC:10825 ; xref: OMIM:602104 ; xref: UNIPROTKB/SWISSPROT:P78314 ; xref: ENSEMBL:ENSG00000087266]
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184
Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71
Gene [OrphaNum:118465 ; Name:SAR1 gene homolog B (S. cerevisiae) ; Symbol:SAR1B ; xref: GENATLAS:SAR1B ; xref: HGNC:10535 ; xref: OMIM:607690 ; xref: UNIPROTKB/SWISSPROT:Q9Y6B6 ; xref: ENSEMBL:ENSG00000152700 ; xref: REACTOME:Q9Y6B6]
ENCODE website <http://www.genome.gov/10005107>
ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence.
Tha HapMap Project webpage <http://hapmap.ncbi.nlm.nih.gov>
The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals.
x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail.
x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).
c existence_ends_at e iff c exists_at e and not ( exists e2 : c exists_at e2 and e before e2).
expert consultation and attribution required
derived from the union of EHDAA2 and EMAPA - still to be checked
Relation between continuant and occurrent, such that c comes into existence at the start of p.
x preaxial_to y iff x is further along the preaxial-postaxial axis than y, towards the front.
x composed_primarily_of y iff: more than half of the mass of x is made from parts of y
Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship.
x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer
x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal).
core classes typically found across metazoa. one purpose is to create a rough set of terms that could be used to start a new metazoan AO. Note this subset is not yet fully fleshed out
organs, excluding individual muscles and skeletal elements
Source: FMA. Editor note: we need to check if FMA branch_of implies part_of. the relation we intend to use here should - for example, see vestibulocochlear nerve
indicates that a synonym is used in an inconsistent or confusing way, typically between species
Relation between continuant c and occurrent s, such that every instance of c ceases to exist before s.
preferred term when talking about an instance of this class in Homo sapiens
Indicates that subclasses in AOs may be inappropriately linked
x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y.
classes that are defined by relative position counting from first in a series of elements along an axis in an individual organism rather than by strict homology
somewhat fuzzy grouping for analysis purposes, currently composed of something like: liver, heart, skeletal, kidney, bladder, brain, skin, mouth, esophagus, stomach, small intestine, large intestines, trachea nose, lungs, brain, spinal cord, peripheral nerves, kidneys, ureters, bladder, urethra, gonads
S only_in_taxon T iff: S SubClassOf in_taxon only T
A historic synonym, no longer encouraged
c existence_starts_at e iff c exists_at e and not ( exists e2 : c exists_at e2 and e2 before e)
sources for developmentally_induced_by relationships in Uberon: Developmental Biology, Gilbert, 8th edition, figure 6.5(F)
t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T.
Catalytic activity terms in need of attention
x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y.
abstract upper-level terms not directly useful for analysis
A single bone in one species may correspond to the fusion of two or more bones found as distinct elements in another. For example, tibiofibula has_fused_element tibia. A has_fused_element B does not imply that A has_part some B, rather than A has_part some B', where B' is not a subtype of B (because B is a distinct element but B' is a regional part) but has some evolutionary relationship to B.
x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat
m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.
m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.
core classes typically found across vertebrates. one purpose is to create a rough set of terms that could be used to start a new vertebrate AO
A term classified differently in FMA due to its treatment of branching structures - to be reviewed and revised by editors
A overlaps B if they share some part in common.
relation between an artery and the structure is supplies with blood.
Relation between occurrents, shares an end boundary with.
Relation between occurrents, shares a start boundary with.
This relation take from EHDAA2 - precise semantics yet to be defined
X intersects_median_plane of iff X crosses the midine plane of Y.
Terms in this subset group together terms from different anatomy ontologies that have conflicting upper ontology/CARO assignments. For example, in FMA the naris is immaterial and in ZFA it is an organism subdivision.
Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship.
Editors note: this is currently used for both structural relationships (such as between a valve and the chamber it connects) and abstract relationships (anatomical lines and the entities they connect)
x adjacent_to y iff: x and y share a boundary
X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)
disjoint_from part_of, but this cannot be expressed in OWL2
a synonym made on the basis of a possibly homologous structure in another species
x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y
A class that represents an early developmental structure, like a blastocyst. This part of the ontology is undergoing review to remove inappropriate grouping classes.
Indicates that the class encompasses classes from other AOs that have not been verified
Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s.
Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely.
classes that have some inconsistency with FMA
Uberon slim - somewhat arbitrary subset that excludes obscure terms and deep compositional terms
Relation between occurrents, shares start and end boundaries.
A non-transitive temporal relation in which one process immediately precedes another process, such that there is no interval of time between the two processes[SIO:000251].
X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)
abstract class brought in to group ontology classes but not informative
A subset specifically created for the 2012 Phenotype RCN meeting. Includes some human-specific terms that may eventually be removed when they are adequately represented with part of relationships in FMA
Relation between continuant and occurrent, such that c ceases to exist at the end of p.
A class which has a weakened disjointness axiom, to avoid inconsistency. These are kept separately in the uberon_disjoint_from_strict ontology.
A is has_no_connections_with B if there are no parts of A or B that have a connection with the other.
Class: <http://www.w3.org/2002/07/owl#Nothing> EquivalentTo: (BFO_0000050 some ?X) and (UBREL_0000001 some (BFO_0000050 some ?Y)), (BFO_0000050 some ?Y) and (UBREL_0000001 some (BFO_0000050 some ?X))
A grouping class that originates in two or more separate anatomical ontologies. Includes 'region of X' type terms
x preaxial_to y iff x is further along the preaxial-postaxial axis than y, towards the postaxial side.
x encloses y iff the convex hull formed by x contains all or the majority of y.
X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y
Subset consisting of classes creating for grouping purposes
This relation holds when both the deep_to and ajdacent_to relationship similarly hold.
placeholder relation. X = 'subdivision of A' and subdivision_of some B means that X is the mereological sum of A and B
X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion.
X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the superficial portion.
Relational slim: types of quality that require an additional entity in order to exist
X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y
Unique short label for PRO terms for display purposes
X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion.
X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion.
X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion.
X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion.
X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion.
X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion.
X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure
m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.
x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y.
imported from
C site_of P iff exists species S such that P occurs_in C for all members of S. Example: bursa of Fabricius site_of B-cell differentiation.
x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y.
x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).
Syntax: upper/lower = I.C.P.M / I.C.P.M. When used with generic tooth class applies to both deciduous and primary. Should also be used with a taxon property.
x tooth_number N if and only if (i) x is a tooth, and (ii) x is ancestrally tooth number N in a series of teeth repeated along an anterior-posterior axis, typically on the lateral side of a structure such as a jaw, with tooth_number 1 being the anteriormost. Note that this count refers to the total number of teeth starting from the first, regardless of the type of tooth. If sub-systems are required for numbering within a series of teeth of the same type, consider a subproperty. For example, in a human, maxillary canine = tooth 3 of upper jaw = canine_tooth 1 of upper jaw
Examples: in dropsphila coxa=1, trochanter=2, femur=3, tibia=4, tarsal segments 1-5=5-9, pretarsus=10
x appendage_segment_number N if and only if (i) x is a appendage_segment, and (ii) x is appendage_segment number N in a series of appendage_segments repeated along an proximo-distal axis, with appendage_segment_number 1 being the proximalmost appendage_segment (in tetrapods this would be the stylopod, as we do not classify girdles as appendage segments).
x proximal_to y iff x is closer to the point of attachment with the body than y.
Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines.
Near the outer surface of the organism. Thus, skin is superficial to the muscle layer.
High-level terms not to be used for direct annotation
Note that gill arch N = PA N-2. the term branchial_arch is ambiguous.
x pharyngeal_arch_number N if and only if (i) x is a pharyngeal arch, and (ii) x is ancestrally pharyngeal arch number N in a series of pharyngeal arches repeated along a antero-posterior axis, with arch_number 1 being the mandibular arch.
A property used to indicate the position of an element where that element is of a type that is serially repeated linearly along some axis for which a total ordering exists. The ordering may represent an ancestral condition
The range is currently non-negative integer
Most land mammals including humans have a 2-3-3-3-3 formula in both the hands (or paws) and feet. Primitive reptiles typically had the formula 2-3-4-4-5, and this pattern, with some modification, remained in many later reptiles and in the mammal-like reptiles. The phalangeal formula in the flippers of cetaceans (marine mammals) is 2-12-8-1
x phalanx_number N if and only if (i) x is a phalanx, and (ii) x is phalanx number N in a series of phalanges repeated along an prixomo-distal axis, with phalanx_number 1 being the proximalmost phalanx. Note that in humans, the distalmost phalanx has phlanax_number 3, except in ray_number 1, where the distalmost has phalanx_number 2
The correct terminology is yet to be established; in tetrapods 'ray' might mean the mereological sum of the phalanges of a manual digit plus a metatarsal bone (or equivalent for hindlimb)
x ray_number N if and only if (i) x is a ray, and (ii) x is ancestrally associated with ray number N in a series of phalanges repeated along a radio-ulnar or equivalent axis, with ray_number 1 being the anteriormost ray.
Relation between continuant c and occurrent s, such that every instance of c comes into existing after some s has completed.
disjoint_from existence_starts_during (but this cannot be expressed in OWL2)
x vertebra_number N if and only if (i) x is a vertebra, and (ii) x is vertebra number N in a series of vertebras repeated along an anterior-posterior axis, with vertebra_number 1 being the anteriormost vertebra (also known as the atlas).
AO notes: Note that in TAO, ribs are numbered by *vertebrae*. Taxon notes: In the early tetrapods, every vertebra bore a pair of ribs, although those on the thoracic vertebrae are typically the longest. In most subsequent forms, many of these early ribs have been lost, and in living amphibians and reptiles, there is great variation in rib structure and number. For example, turtles have only eight pairs of ribs, which are developed into a bony or cartilagenous carapace and plastron, while snakes have numerous ribs running along the full length of their trunk. Frogs typically have no ribs, aside from a sacral pair, which form part of the pelvis. Mammals usually also only have distinct ribs on the thoracic vertebra, although fixed cervical ribs are also present in monotremes. In marsupials and placental mammals, the cervical and lumbar ribs are found only as tiny remnants fused to the vertebrae, where they are referred to as transverse processes. In general, the structure and number of the true ribs in humans is similar to that in other mammals. Unlike reptiles, caudal ribs are never found in mammals.
x rib_number N if and only if (i) x is a rib, and (ii) x is rib number N in a series of ribs repeated along an anterior-posterior axis, with rib_number 1 being the anteriormost rib. Note that this property counts ribs, *not* the adjoining vertebrae.
x paired_appendage_number N if and only if (i) x is a paired_appendage, and (ii) x is paired_appendage number N in a series of paired_appendages repeated along an anterior-posterior axis, with paired_appendage_number 1 being the anteriormost paired_appendage. In vertebrates, this is the pectoral appendage
x somite_number N if and only if (i) x is a somite, and (ii) x is somite number N in a series of somites repeated along an anterior-posterior axis, with somite_number 1 being the anteriormost somite.