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
Copyright [2014] EMBL - European Bioinformatics Institute Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License.
Mappings: CRISP Thesaurus Version 2.5.2.0
Mappings:The Arabidopsis Information Resource (TAIR)
Ontology containing axioms that describe relationships between orphanet disease ontology classes and efo classes.
imported from
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
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
A textual description of an axiom loss in this ontology compared to an external ontology.
Notes on the homology status of this class.
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)
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.
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
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
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 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)
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.
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.
S only_in_taxon T iff: S SubClassOf in_taxon only T
develops from
capable of
produces
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.
Established from a human primary embryonal kidney transformed by adenovirus type 5.
Human lung carcinoma established from an explanted lung tumor which was removed from a 58-year-old Caucasian man in 1972; cells were described to induce tumors in athymic mice and to synthesize lecithin.
blood serum
The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting.
Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved.
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.
Endothelial cell of or involving the cerebrum and the blood vessels supplying it.
A specialized fungal hypha that produces conidia.
A crypt is a deep pit that protrudes down into the connective tissue surrounding the small intestine. The epithelium at the base of the crypt is the site of stem cell proliferation and the differentiated cells move upwards and are shed 3-5 days later at the tips of the villi.
culture condition:dark-grown cell
The infectious form of chlamydiaceae. Infection occurs when the small, rigid-walled extracellular form (elementary body) enters the cell and changes into a larger, thin-walled form (initial body) that divides by fission. The daughter cells thus formed reorganize and condense to become elementary bodies that then infect other cells. The organisms are parasites of humans and other vertebrates, capable of producing a variety of diseases. They have also been found in arthropods. The family contains the genus Chlamydia.
renal cell carcinoma cell line
Cell line of a malignant neoplasm of the bone-forming tissues.
Cancer cell of the blood-forming tissues in which large numbers of immature, abnormal red blood cells are found in the blood and bone marrow.
The epidermal layer directed away or outwards from the axis.
A food-absorbing outgrowth of a plant organ (as a hypha or stem).
Cancer cell of the major organ of respiration the lung.
Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene.
Duplicate with class K562 http://www.ebi.ac.uk/efo/EFO_0002067
A cell line of leukemia characterized by proliferation of myeloid tissue (as of the bone marrow and spleen) and an abnormal increase in the number of granulocytes, myelocytes, and myeloblasts in the circulating blood.
melanoma cell line
Mouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1.
A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut.
Mouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma.
A malignant tumour cell of glandular origin in the prostate. Over 95% are adenocarcinomas.
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.
Rat, nervous system, immature, Schwann cell derived cell line.
The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass.
1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria.
The venom gland of snakes is in actual fact a modified salivary gland and is linked to the groove in the fangs by a duct;nA bee has a poison gland in her abdomen.
Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse.
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.
Subset of helper-inducer T-lymphocytes which synthesize and secrete interleukin-2, gamma-interferon, and interleukin-12. Due to their ability to kill antigen-presenting cells and their lymphokine-mediated effector activity, Th1 cells are associated with vigorous delayed-type hypersensitivity reactions.
Subset of helper-inducer T-lymphocytes which synthesize and secrete the interleukins IL-4, IL-5, IL-6, and IL-10. These cytokines influence B-cell development and antibody production as well as augmenting humoral responses.
bursa of Fabricius
A lymphoid organ that opens into the cloaca of birds and functions in B-cell production.
Coelomic fluid probably aids in oxygen transport and may contain some cells with hemoglobin.
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.
The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time.
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, blood, leukemia, T cell line, clone E6.1.
"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]
A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen.
breast infiltrating ductal carcinoma cell
Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases.
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 cardiac muscle cell line from the AT-1 mouse atrial cardiomyocyte tumor lineage; established from an adult female Jackson Laboratory-inbred C57BLy6J mouse.
The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line.
Human normal colon fibroblast cell line established from a black 2.5-months-old human female.
"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]
Established melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg.
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
ChemIDplus:70458-96-7 "CAS Registry Number"
KEGG COMPOUND:70458-96-7 "CAS Registry Number"
Beilstein:567897 "Beilstein Registry Number"
"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." []
(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]
Wikipedia:2-Acetylaminofluorene "Wikipedia"
"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2." []
NIST Chemistry WebBook:53-96-3 "CAS Registry Number"
ChemIDplus:53-96-3 "CAS Registry Number"
KEGG COMPOUND:53-96-3 "CAS Registry Number"
Beilstein:2807677 "Beilstein Registry Number"
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.
"A cholate salt that has formula C24H39NaO5." []
ChemIDplus:361-09-1 "CAS Registry Number"
Beilstein:4289807 "Beilstein Registry Number"
(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
"A hydrate that has formula C34H38Cl2N2O5." []
ChemIDplus:41372-20-7 "CAS Registry Number"
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
LIPID MAPS:LMFA01030125 "LIPID MAPS instance"
"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration." []
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
Beilstein:147610 "Beilstein Registry Number"
NIST Chemistry WebBook:321-64-2 "CAS Registry Number"
KEGG COMPOUND:321-64-2 "CAS Registry Number"
ChemIDplus:321-64-2 "CAS Registry Number"
"An aromatic amine that has formula C13H14N2." []
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.
Beilstein:5855538 "Beilstein Registry Number"
"A ring assembly that has formula C23H26N2O." []
ChemIDplus:112192-04-8 "CAS 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
ChemIDplus:49562-28-9 "CAS Registry Number"
"A chlorobenzophenone that has formula C20H21ClO4." []
KEGG COMPOUND:49562-28-9 "CAS Registry Number"
ChemIDplus:67227-56-9 "CAS Registry Number"
"A benzazepine that has formula C16H16ClNO3." []
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.
KEGG DRUG:54910-89-3 "CAS Registry Number"
"A benzenoid aromatic compound that has formula C17H18F3NO." []
ChemIDplus:54910-89-3 "CAS Registry Number"
Beilstein:39914106 "Beilstein 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
"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide." []
ChemIDplus:155-41-9 "CAS Registry Number"
KEGG DRUG:155-41-9 "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." []
KEGG DRUG:7783-20-2 "CAS Registry Number"
Reaxys:11343144 "Reaxys Registry Number"
ChemIDplus:7783-20-2 "CAS Registry Number"
"The ammonium salt of phosphoric acid (molar ratio 1:1)." []
Reaxys:11461082 "Reaxys Registry Number"
ChemIDplus:7722-76-1 "CAS Registry Number"
ChemIDplus:6484-52-2 "CAS Registry Number"
Reaxys:13203931 "Reaxys Registry Number"
"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions." []
NIST Chemistry WebBook:7647-17-8 "CAS Registry Number"
ChemIDplus:7647-17-8 "CAS Registry Number"
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
KEGG DRUG: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" []
ChemIDplus:75607-67-9 "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." []
ChemIDplus:53230-10-7 "CAS Registry Number"
KEGG COMPOUND:53230-10-7 "CAS Registry Number"
2,3:4,5-bis-O-(1-methylethylidene)-beta-D-fructopyranose sulfamate
2,3:4,5-di-O-isopropylidene-beta-D-fructopyranose sulfamate
ChemIDplus: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." []
KEGG COMPOUND: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 chromone substituted with a phenyl group at position 8 and a morpholine group at position 2.
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]
KEGG COMPOUND:52-53-9 "CAS Registry Number"
"An L-type calcium channel blocker of the phenylalkylamine class." []
Beilstein:2825000 "Beilstein Registry Number"
ChemIDplus:52-53-9 "CAS Registry Number"
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL
SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100
CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50
HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)
PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50
UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16
HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8
LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION
LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)
HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424
HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423
CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION
DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION
ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL
DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS
MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS
NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE
MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE
NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS
APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS
MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE
NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
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.
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 cell whose function is determined by the generation or the reception of an electric signal.
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]
A cell of a filament of a fungal mycelium.
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]
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.
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]
A cell whose nucleus has two haploid genomes.
A free floating cell, including amebocytes and eleocytes, in the coelom of certain animals, especially annelids.
A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response.
Due to its unique lineage and distinct function, this is not a type of dendritic cell; CL:0000451.
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]
skeletal muscle myoblast
A myoblast that differentiates into skeletal muscle fibers.
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 projection neuron in the cerebral cortex and the hippocampus. Pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base. The axons may have local collaterals but also project outside their cortical region.
An asexual, nonmotile spore formed by higher fungi; conidia are usually made from the side or tip of specialized sporogenous cells and do not form by progressive cleavage of the cytoplasm.
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]
A cell that can perform photosynthesis, in which carbohydrates are synthesized from carbon dioxide and water, using light as the energy source.
see PMID:21177950, The making of a photosynthetic animal.
A cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver.
Hepatic stellate cells are CD271-positive, desmin-positive, DDR-2-positive, GFAP-positive, synamin-positive, synaptophysin-positive, vimentin-positive, They are capable of producing angiotensin II, fibronectin, laminin, MMP-1, MMP-2, MMP-3, MMP-9, MMP-11, TGF-beta1, TIMP-1, TIMP-2, type I collagen, type III collagen, type IV collagen, and type VI collagen.
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 neuron that releases dopamine as a neurotransmitter.
Cumulus cell is a specialized granulosa cell that surrounds and nourishes the oocyte. This cell-type surrounds the fully-grown oocyte to form a cumulus-oocyte complex (abbr. COC). The terms cumulus oophorus cells, cumulus granulosa cells, cumulus oophorous granulosa cells, granulosa-cumulus cells are used to make a distinction between this cell and the other functionally different subpopulation of granulosa cells at the wall of the Graafian follicle.
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 immature or mature cell in the lineage leading to and including erythrocytes.
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
An endothelial cell found in capillaries.
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
An epithelial cell of the large intestine.
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]
An epithelial cell of the mammary gland.
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
A circulating endothelial cell of the phenotype CD146-positive, CD105-positive, CD45-negative. This cell type is indicative of recent vascular damage.
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
lung fibroblast
A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively.
chronic gonococcal infectious disease of lower genitourinary tract.
A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.
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.
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
microtubule cytoskeleton organization and biogenesis
A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand.
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.
Note that, in addition to forming the root of the cellular component ontology, this term is recommended for use for the annotation of gene products whose cellular component is unknown. Note that when this term is used for annotation, it indicates that no information was available about the cellular component of the gene product annotated as of the date the annotation was made; the evidence code ND, no data, is used to indicate this.
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.
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
The region between the inner and outer lipid bilayers of the mitochondrial envelope.
A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol.
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER.
The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae.
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions.
Note that the Golgi apparatus can be located in various places in the cytoplasm. In plants and lower animal cells, the Golgi apparatus exists as many copies of discrete stacks dispersed throughout the cytoplasm, while the Golgi apparatus of interphase mammalian cells is a juxtanuclear, often pericentriolar reticulum, where the discrete Golgi stacks are stitched together to form a compact and interconnected ribbon, sometimes called the Golgi ribbon.
The CGN is not considered part of the Golgi apparatus but is a separate organelle.
The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum.
The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule.
nucleobase-containing compound metabolic process
Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids.
cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism
nucleobase, nucleoside and nucleotide metabolic process
nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
nucleobase, nucleoside, nucleotide and nucleic acid metabolism
The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.
The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.
The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine
The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
process resulting in protein modification
A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.
A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan.
protein amino acid N-linked glycosylation
cellular aromatic compound metabolic process
The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells.
The chemical reactions and pathways involving any phosphorylated nucleoside.
The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4).
phosphate-containing compound metabolic process
The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid.
Note that amino acid and derivative metabolism should not be annotated here. Instead use the 'amino acid and derivative metabolism' node.
The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen, including (but not limited to) nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium.
A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathways) which typically lead to rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. The process ends when the cell has died. The process is divided into a signaling pathway phase, and an execution phase, which is triggered by the former.
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 disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC.
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.
replaces previous MeSH derived class, inflammation.
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 an increase or decrease in the concentration of solutes outside the organism or cell.
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart.
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
mitotic spindle organization and biogenesis
spindle organization and biogenesis during mitosis
Note that signal transduction is defined broadly to include a ligand interacting with a receptor, downstream signaling steps and a response being triggered. A change in form of the signal in every step is not necessary. Note that in many cases the end of this process is regulation of the initiation of transcription. Note that specific transcription factors may be annotated to this term, but core/general transcription machinery such as RNA polymerase should not.
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
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]
Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end.
Note that, in addition to forming the root of the biological process ontology, this term is recommended for use for the annotation of gene products whose biological process is unknown. Note that when this term is used for annotation, it indicates that no information was available about the biological process of the gene product annotated as of the date the annotation was made; the evidence code ND, no data, is used to indicate this.
The activities of living organisms that support life in single- or multi-cellular organisms from their origin through the progression of life.
Note that metabolic processes do not include single functions or processes such as protein-protein interactions, protein-nucleic acids, nor receptor-ligand interactions.
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.
metabolic process resulting in cell growth
Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as "apoptotic bodies"); and/or (3) its corpse (or its fragments) have been engulfed by an adjacent cell in vivo.
The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones.
The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (a ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleoside), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine).
The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates).
The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine or pyrimidine base is linked to a ribose (beta-D-ribofuranose) molecule.
nucleoside monophosphate metabolic process
The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar.
nucleoside monophosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar.
purine nucleoside monophosphate metabolic process
The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar.
purine nucleoside monophosphate metabolism
purine nucleoside monophosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar.
purine nucleoside monophosphate anabolism
purine nucleoside monophosphate biosynthesis
purine nucleoside monophosphate formation
purine nucleoside monophosphate synthesis
nucleoside triphosphate metabolic process
The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar.
nucleoside triphosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar.
purine nucleoside triphosphate metabolic process
The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar.
purine nucleoside triphosphate metabolism
purine nucleoside triphosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar.
purine nucleoside triphosphate anabolism
purine nucleoside triphosphate biosynthesis
purine nucleoside triphosphate formation
purine nucleoside triphosphate synthesis
The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.
purine ribonucleotide biosynthetic process
The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.
ribonucleoside monophosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar.
ribonucleoside monophosphate biosynthesis
ribonucleoside monophosphate metabolic process
The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar.
The chemical reactions and pathways resulting in the formation of any one of a family of organic molecules consisting of a purine or pyrimidine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside).
The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates).
purine ribonucleoside monophosphate metabolic process
The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar.
purine ribonucleoside monophosphate metabolism
purine ribonucleoside monophosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar.
purine ribonucleoside monophosphate anabolism
purine ribonucleoside monophosphate biosynthesis
purine ribonucleoside monophosphate formation
purine ribonucleoside monophosphate synthesis
ribonucleoside triphosphate metabolic process
The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar.
ribonucleoside triphosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar.
ribonucleoside triphosphate biosynthesis
purine ribonucleoside triphosphate metabolic process
The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar.
purine ribonucleoside triphosphate metabolism
purine ribonucleoside triphosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar.
purine ribonucleoside triphosphate anabolism
purine ribonucleoside triphosphate biosynthesis
purine ribonucleoside triphosphate formation
purine ribonucleoside triphosphate synthesis
The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.
The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.
A rigid yet dynamic structure surrounding the plasma membrane that affords protection from stresses and contributes to cell morphogenesis, consisting of extensively cross-linked glycoproteins and carbohydrates. The glycoproteins may be modified with N- or O-linked carbohydrates, or glycosylphosphatidylinositol (GPI) anchors; the polysaccharides are primarily branched glucans, including beta-linked and alpha-linked glucans, and may also include chitin and other carbohydrate polymers, but not cellulose or pectin. Enzymes involved in cell wall biosynthesis are also found in the cell wall. Note that some forms of fungi develop a capsule outside of the cell wall under certain circumstances; this is considered a separate structure.
chitin- and beta-glucan-containing cell wall
A lipid bilayer that forms the outermost layer of the cell envelope; enriched in polysaccharide and protein; the outer leaflet of the membrane contains specific lipopolysaccharide structures.
protein secretion resulting in cell fate commitment
The controlled release of proteins from a cell.
protein secretion during cell fate commitment
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.
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 cold stimulus, a temperature stimulus below the optimal temperature for that 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 water deprivation stimulus, prolonged deprivation of water.
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 reflecting the presence, absence, or concentration of water.
A chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma.
Any member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid.
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 an abiotic (non-living) stimulus.
Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.
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.
The lipid bilayer surrounding any membrane-bounded vesicle in the cell.
ER to Golgi constitutive secretory pathway transport vesicle membrane
The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi.
endoplasmic reticulum to Golgi transport vesicle membrane
endoplasmic reticulum-Golgi transport vesicle membrane
A subcellular organelle of plant cells surrounded by 'half-unit' or a monolayer membrane instead of the more usual bilayer. The storage body has a droplet of triglyceride surrounded by a monolayer of phospholipids, interacting with the triglycerides and the hydrophilic head groups facing the cytosol, and containing major protein components called oleosins.
The postsynaptic density is a region that lies adjacent to the cytoplasmic face of the postsynaptic membrane at excitatory synapse. It forms a disc that consists of a range of proteins with different functions, some of which contact the cytoplasmic domains of ion channels in the postsynaptic membrane. The proteins making up the disc include receptors, and structural proteins linked to the actin cytoskeleton. They also include signalling machinery, such as protein kinases and phosphatases. The postsynaptic density may be part of a neuron or a muscle cell or a glial cell.
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 directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.
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.
The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).
The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring.
aromatic hydrocarbon biosynthetic process
The chemical reactions and pathways involving a specific protein, rather than of proteins in general. Includes protein modification.
protein metabolic process and modification
The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound.
The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar.
The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites.
The cellular process that ensures successive accurate and complete genome replication and chromosome segregation.
A process in which the transfer of one or more phosphate groups to a substrate transmits a signal to the phosphorylated substrate.
signal transduction via phosphorylation event
signal transmission via phosphorylation event
A thylakoid that is derived from and attached to, but not necessarily continuous with, the plasma membrane, and is not enclosed in a plastid. It bears the photosynthetic pigments in photosynthetic cyanobacteria.
The change in morphology and behavior of a natural killer cell in response to a cytokine, chemokine, cellular ligand, or soluble factor.
A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
Combining with estrogen and transmitting the signal within the cell to trigger a change in cell activity or function.
A structure that lies outside the plasma membrane and surrounds the entire cell.
An envelope that surrounds a bacterial cell and includes the cytoplasmic membrane and everything external, encompassing the periplasmic space, cell wall, and outer membrane if present.
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]
constitutive secretory pathway transport vesicle membrane
The lipid bilayer surrounding a transport vesicle.
The lipid bilayer surrounding a cytoplasmic vesicle.
The lipid bilayer surrounding a coated vesicle.
The lipid bilayer surrounding a secretory granule.
A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals and bacteria) or be part of the cell (as in plants).
The lipid bilayer surrounding an organelle.
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.
Either of the lipid bilayers that surround a chloroplast and form the chloroplast envelope.
The region between the inner and outer lipid bilayers of an organelle envelope.
A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition.
The controlled release of a substance by a cell.
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.
protein glycosylation in endoplasmic reticulum
The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the endoplasmic reticulum.
protein amino acid glycosylation in endoplasmic reticulum
Any constituent part of a host cell. The host is defined as the larger of the organisms involved in a symbiotic interaction.
Any constituent part of the living contents of a host cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. The host is defined as the larger of the organisms involved in a symbiotic interaction.
cellular nitrogen compound metabolic process
The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells.
nucleobase-containing compound biosynthetic process
The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids.
nucleobase, nucleoside, nucleotide and nucleic acid anabolism
nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis
nucleobase, nucleoside, nucleotide and nucleic acid formation
nucleobase, nucleoside, nucleotide and nucleic acid synthesis
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.
The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
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.
A membrane-bounded organelle as it is found in the host cell in which chromosomes are housed and replicated. The host is defined as the larger of the organisms involved in a symbiotic interaction.
A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.
Either of the lipid bilayers that surround a plastid and form the plastid envelope.
The chemical reactions and pathways involving one of a family of organic molecules consisting of a purine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside).
The chemical reactions and pathways resulting in the formation of any purine nucleoside, one of a family of organic molecules consisting of a purine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside).
The chemical reactions and pathways resulting in the formation of any ribonucleoside, a nucleoside in which purine or pyrimidine base is linked to a ribose (beta-D-ribofuranose) molecule.
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 drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a 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 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 detection of, or exposure to, an increase in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment.
behavioral response to water deprivation
Any process that results in a change in the behavior of an organism as a result of deprivation of water.
behavioural response to water deprivation
A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.
An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system.
Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane.
Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.
Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi.
intracellular membrane-bounded organelle
Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
intracellular membrane-enclosed organelle
intracellular non-membrane-bounded organelle
Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes.
intracellular non-membrane-enclosed organelle
The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties.
The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule.
The region of a bacterial cell to which the DNA is confined.
The space within a host but external to the plasma membrane of host cells, e.g. within host bloodstream.
The chemical reactions and pathways by which individual cells transform chemical substances.
The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism.
The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.
cellular macromolecule metabolic process
The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells.
The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification.
cellular nitrogen compound biosynthetic process
The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds.
symbiosis, encompassing mutualism through parasitism
interspecies interaction between organisms
Any process in which an organism has an effect on an organism of a different species.
interspecies interaction with other organisms
Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite.
Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane.
Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm.
Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.
Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated.
Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
Any constituent part of the cytoskeleton, a cellular scaffolding or skeleton that maintains cell shape, enables some cell motion (using structures such as flagella and cilia), and plays important roles in both intra-cellular transport (e.g. the movement of vesicles and organelles) and cellular division. Includes constituent parts of intermediate filaments, microfilaments, microtubules, and the microtrabecular lattice.
Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell.
Any constituent part of a chloroplast, a chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma.
Any constituent part of a plastid, a member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid.
Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.
Any constituent part of an external encapsulating structure, a structure that lies outside the plasma membrane and surrounds the entire cell.
Any constituent part of a cell, the basic structural and functional unit of all organisms.
The tooth development process in which the teeth enter the mouth and become visible.
A biological process that involves only one organism.
A biological process occurring within a single, multicellular organism.
A metabolic process - chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances - which involves a single organism.
Any process that is carried out at the cellular level, occurring within a single organism.
A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition, involving only one organism.
Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
The directed movement of a protein to a specific location.
A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor.
The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.
The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule.
purine ribonucleoside biosynthetic process
The chemical reactions and pathways resulting in the formation of any purine ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule.
The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar.
The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).
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.
A large enclosure of aggregated pigment, typically bacteriochlorophyll c (BChl c), that acts as a light-harvesting antenna structure and is characteristic of green photosynthetic bacteria (e.g. Chlorobiaceae). The BChl aggregates are organized into lamellar elements by pigment-pigment rather than pigment-protein interactions. Chlorosomes also contain BChl a, carotenoids, quinones, lipids, and proteins, and are attached to the cytoplasmic membrane via a BChl a-containing protein baseplate.
The cell membranes and intracellular regions in a plant are connected through plasmodesmata, and plants may be described as having two major compartments: the living symplast and the non-living apoplast. The apoplast is external to the plasma membrane and includes cell walls, intercellular spaces and the lumen of dead structures such as xylem vessels. Water and solutes pass freely through it.
Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule.
Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.
regulation of cellular physiological 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 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.
The directed movement of a cell, substance or cellular entity, such as a protein complex or organelle, to a specific location.
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.
A localization process that takes place at the cellular level; as a result of a cellular localization process, a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within or in the membrane of a cell.
establishment and maintenance of cellular localization
establishment and maintenance of localization in cell or cell membrane
Any process in which a mitochondrion or mitochondria are transported to, and/or maintained in, a specific location within the cell.
establishment and maintenance of mitochondria localization
establishment and maintenance of mitochondrion localization
The directed movement of a substance or cellular entity, such as a protein complex or organelle, to a specific location within, or in the membrane of, a cell.
establishment of intracellular localization
establishment of localization within cell
An interaction between two organisms living together in more or less intimate association. The term host is used for the larger (macro) of the two members of a symbiosis; the various forms of symbiosis include parasitism, commensalism and mutualism.
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell.
interaction with other organism via secreted substance involved in symbiotic interaction
An interaction with a second organism mediated by a substance secreted by the first organism, where the two organisms are in a symbiotic interaction.
interaction with other organism via secreted substance during symbiotic interaction
interaction with host via secreted substance involved in symbiotic interaction
An interaction with the host organism mediated by a substance secreted by the other (symbiont) organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.
interaction with host via secreted substance during symbiotic interaction
nucleobase-containing small molecule metabolic process
The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide.
nucleobase, nucleoside and nucleotide metabolism
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.
extracellular membrane-bounded organelle
Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell.
extracellular membrane-enclosed organelle
A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane.
The covalent attachment of a glycosyl residue to a substrate molecule.
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 (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus.
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus.
The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon.
organic molecular entity metabolic process
purine-containing compound metabolic process
The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof.
purine-containing compound biosynthetic process
The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof.
purine and derivative biosynthetic 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 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 a topoisomerase inhibitor stimulus.
The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose.
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)
carbohydrate derivative metabolic process
The chemical reactions and pathways involving carbohydrate derivative.
carbohydrate derivative biosynthetic process
The chemical reactions and pathways resulting in the formation of carbohydrate derivative.
nucleoside phosphate biosynthetic process
The chemical reactions and pathways resulting in the formation of a nucleoside phosphate.
organic cyclic compound metabolic process
The chemical reactions and pathways involving organic cyclic compound.
organic cyclic compound biosynthetic process
The chemical reactions and pathways resulting in the formation of organic cyclic compound.
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 camptothecin stimulus.
organonitrogen compound metabolic process
The chemical reactions and pathways involving organonitrogen compound.
organonitrogen compound biosynthetic process
The chemical reactions and pathways resulting in the formation of organonitrogen compound.
The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon.
organic molecular entity biosynthetic process
The chemical reactions and pathways involving glycosyl compound.
The chemical reactions and pathways resulting in the formation of glycosyl compound.
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 cyclophosphamide 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 docetaxel 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 etoposide 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 doxorubicin 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 epirubicin stimulus.
response to simvastatin
"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 simvastatin stimulus." [GO_REF:0000071, GOC:TermGenie, PMID:23100282] comment: Simvastatin is a statin used as a cholesterol-lowering and anti-cardiovascular disease drug.
response to aspirin
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 acetylsalicylate stimulus." [GO_REF:0000071, GOC:TermGenie, PMID:23392654]
response to clopidogrel
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 clopidogrel stimulus. Clopidogrel is a is an oral, thienopyridine-class antiplatelet agent used to inhibit blood clots in coronary artery disease, peripheral vascular disease, and cerebrovascular 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 temozolomide stimulus. temozolomide is a an alkyalting/methylating agent used in the treatment of glioblastoma multiforme and melanoma.
The process by which a callus is formed at a wound site. A plant callus is a portion of plant tissue that consists of mass of undifferentiated plant cells. It consists primarily of parenchyma cells but possibly contains other cell types as the callus begins to differentiate.
The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Any manifestation of a skin disease associated with the production of pus.
cognitive decline
Loss of previously present mental abilities, generally in adults.
Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
A deficiency or slowing down of growth pre- and postnatally. Poor or abnormally slow gains in weight or height in a child.
Accumulation of fluid in the peritoneal cavity. Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels.
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
An abnormality of the integument, which consists of the skin and the superficial fascia.
abnormal phenotype of the cardiovascular system
Any abnormality of the `cardiovascular system` (FMA:7161).
prolonged QT interval
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
phenotypic abnormality of the aorta
An abnormality of the `aorta` (FMA:3734).
abnormality of blood and blood-forming tissues
An abnormality of the hematopoietic system.
Elevated body temperature due to failed thermoregulation.
Abnormally increased frequency of loose or watery bowel movements.
Infrequent or difficult evacuation of feces.
Pain perceived to originate in the abdomen.
Protrusion of the rectal mucous membrane through the anus.
Hemorrhage affecting the gastrointestinal tract.
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
An abnormality of the immune system. The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.
Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection.
Reduction in the concentration of albumin in the blood.
Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction.
An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
An abnormality of temperature homeostasis.
Inflammation of the gastrointestinal tract.
Obstruction of the gastrointestinal tract.
Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced.
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
The age group in which disease manifestations appear.
Sudden appearance of disease manifestations over a short period of time.
Slow, creeping onset, slow progress and long continuance of disease manifestations. According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more.
abnormality of the gastrointestinal tract
An abnormality of the gastrointestinal tract.
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
aspirin induced respiratory disease (non-exact synonym)
This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.
An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
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.
Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues.
Loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels.
Djungarian hamster also in use for Phodopus campbelli
Mus (commonly mice) is a small mammal belonging to the order of rodents.
Rat[accessedResource: NIFSTD:birnlex_160][accessDate: 05-04-2011]
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
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]
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
Viridiplantae are a clade comprising the green algae and land plants.
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 subsp. carotovorum
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 polymerase chain reaction
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.
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
Chris Stoeckert, Jie Zheng, Bjoern Peters
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.
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.
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.
James Malone, modified from original OBI definition (Philippe Rocca Serra)
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
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]
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
A root apical meristem that is part of a primary 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.
Arabidopsis Growth principal growth stage 9
A sporophyte development stage during which a sporophyte participates in multicellular organism senescence.
A germination stage during which there is absorption of water by the seed.
The stage at which flowering is complete.
Stage R1 Open flower at any node on the main stem
The stage at which the first flower(s) open.
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.
The bracteoles are borne on the pedicel, which terminates in a flower. A pedicel is the ultimate branch in an inflorescence
An inflorescence branch (PO:0009081) that supports an individual flower in an inflorescence (PO:0009049).
root stele
This term is to be used for only the apical most portion of a leaf. For a larger area, use the term leaf apex. Use this term when describing the shape of a leaf tip. If you are annotating to this term, please add an additional annotation to vascular leaf (PO:0009025) or non-vascular leaf (PO:0025075), depending on the species. All annotations for angiosperms, gymnosperms, and pteridophytes should go to vascular leaf and all annotations for bryophytes should go to non-vascular leaf.
A phyllome tip (PO:0025141) that is part of a leaf apex (PO:0020137).
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)
Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body.
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)
The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primate’s body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's
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
Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996).
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.
Taxon notes: This class excludes compound eye corneal lenses.
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]
Transparent part of camera-type eye that helps to refract light to be focused on the retina.
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 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]
Simple columnar epithelium that lines the intestine, sometimes pseudostratified, with absorptive brush-border cells and mucous goblet cells clearly visible. Crosnier et al. 2005[TAO]
The innermost membrane of the four coats of the intestinal wall, the other three being the submucosa, muscular layers, and serosa. (Berk et al., Gastroenterology, 4th ed, v.3, p1479)
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].
An eyelid is a thin fold of skin that covers and protects an eyeball. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to 'open' the eye. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. 'Palpebral' (and 'blepharo') means relating to the eyelids. Its key function is to regularly spread the tears and other secretion on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. [WP,unvetted]. Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA
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
Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes
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)
An epithelium that is part of a small intestine [Automatically generated definition].
Intestinal epithelium which lines the lumen of the mid intestine.[TAO]
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 bitter-tasting, dark green to yellowish brown fluid, produced by the liver of most vertebrates, that aids the process of digestion of lipids in the small intestine. In many species, bile is stored in the gallbladder and upon eating is discharged into the duodenum. Bile is a composition of the following materials: water (85%), bile salts (10%), mucus and pigments (3%), fats (1%), inorganic salts (0.7%) and cholesterol (0.3%)[WP].
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
Editor note - request magnocellular cell from CL. Request oxytocin secretion from GO. Notes: "The hypophysis or pituitary gland is derived, in part from an ectodermal outpocketing of the stomodeum (Rathke's Pouch) and in part from the floor of the diencephalon" [http://syllabus.med.unc.edu/courseware/embryo_images/]
The infundibular part of the pituitary gland consisting of two regions.[AAO]
comprises the posterior lobe of the pituitary gland and is part of the endocrine system[WP].
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].
A serous membrane that lines the peritoneal cavity
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].
Duct that carries bile from the liver to the small intestine
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].
The area of the mouth under the ventral surface of the tongue.
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 mucous membrane that lines the mouth. Usage notes: this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)
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]
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]
The fluid portion of the semen, in which the spermatozoa are suspended[BTO].
Usage notes: we follow FMA and make this class a generic superclass of the secretions of different glands (prostate, bulbo-urethreal, seminal vesicle). MA (and ncit) follows a mixture model, where these secretions are part of the seminal fluid // Taxon notes: This term covers a variety of species. Example: In D. melanogaster, seminal fluid proteins affect female receptivity, ovulation, oogenesis, sperm storage, sperm competition and mating plug formation [doi:10.1046/j.1365-2540.2001.00961.x]. Note that ths intology contains a number of subtypes of seminal fluid, defined according to glands (which are more taxonomically restricted)
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 fast and slow skeletal muscles are different in terms of twitching speed (Fitts 1994), and they are believed to be derived from distinct myogenic precursors (Stockdale 1992) The paler-colored muscle tissue of some mammals, composed of fast twitch muscle fibers.
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)
Poisonous animal secretions forming fluid mixtures of many different enzymes, toxins, and other substances. These substances are produced in specialized glands and secreted through specialized delivery systems (nematocysts, spines, fangs, etc.) for disabling prey or predator.
Note we include a separate class for snake venom
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.
The serous fluid which accumulates in the peritoneal cavity in ascites.
todo - move to pathological anatomical entity ontology
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].
Any of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air.
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.
Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the vertebral column and ribcage. Examples: There is only one body proper[FMA:231424].
The region of the organism associated with the visceral organs.
Musculature that is part of the dorsal fin.
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 concentration unit which denotes the average cell number in a given volume.
A unit of cell concentration which is equal to one cell in a volume of 1 milliliter.
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).
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.obolibrary.org/obo/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
use 'http://www.orpha.net/ORDO/Orphanet_98895' instead. New Label : Becker 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.
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.orpha.net/ORDO/Orphanet_550' 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]
use 'http://www.orpha.net/ORDO/Orphanet_806' instead. New Label : Scott syndrome
Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation.
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.orpha.net/ORDO/Orphanet_50' 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.orpha.net/ORDO/Orphanet_178' 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.orpha.net/ORDO/Orphanet_379' 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.orpha.net/ORDO/Orphanet_191' 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.orpha.net/ORDO/Orphanet_1572' 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
An array design 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.orpha.net/ORDO/Orphanet_586' 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[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[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[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 nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a 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)
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 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]
Nodular Glomerulosclerosis[accessedResource: MSH:D003928][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.orpha.net/ORDO/Orphanet_98896' 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.orpha.net/ORDO/Orphanet_261' 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.orpha.net/ORDO/Orphanet_269' 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.orpha.net/ORDO/Orphanet_44890' 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]
Use http://www.orpha.net/ORDO/Orphanet_685 label : hereditary spastic paraplegia
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.orpha.net/ORDO/Orphanet_399' 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 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)
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.
Replaced with new Orphanet class: http://www.orpha.net/ORDO/Orphanet_64720
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[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][accessedResource: ICD9:033.0][accessDate: 05-04-2011]
Whooping cough, NOS[accessedResource: SNOMEDCT:27836007][accessDate: 05-04-2011]
bordetella infection[accessedResource: DOID:1116][accessDate: 05-04-2011]
Duplicate with Orphanet term: http://www.orpha.net/ORDO/Orphanet_1489
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.orpha.net/ORDO/Orphanet_738' 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]
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]
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]
A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
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.orpha.net/ORDO/Orphanet_797' 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.orpha.net/ORDO/Orphanet_232' 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
Created as a synonym of distant metastasis free survival instead, more commonly used term.
synonym of distant metastasis free survival
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.orpha.net/ORDO/Orphanet_98473' 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.orpha.net/ORDO/Orphanet_3389' 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.orpha.net/ORDO/Orphanet_870' 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.orpha.net/ORDO/Orphanet_778' 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]
A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.
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 design in which RNA from different cell components is examined.
A cell component comparison study 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]
Use http://purl.obolibrary.org/obo/UBERON_0003679 label:mouth floor
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 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 biosamples.
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.
Cell lines derived from ovarian cancer tissue.
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.orpha.net/ORDO/Orphanet_102' 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.orpha.net/ORDO/Orphanet_145' 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.orpha.net/ORDO/Orphanet_99408' 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.orpha.net/ORDO/Orphanet_54260' 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]
C. elegans second stage larva. At 25 Centigrade, it ranges 25.5-32.5 hours after fertilization, 11.5-18.5 hours after hatch.
C. elegans 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.
Cell lines that are part of the haemopoietic system.
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.orpha.net/ORDO/Orphanet_790' 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.orpha.net/ORDO/Orphanet_47' 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.orpha.net/ORDO/Orphanet_98755' instead. New Label : Spinocerebellar ataxia type 1
use 'http://www.orpha.net/ORDO/Orphanet_94147' instead. New Label : Spinocerebellar ataxia type 7
use 'http://www.orpha.net/ORDO/Orphanet_98759' 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.orpha.net/ORDO/Orphanet_636' instead. New Label : Neurofibromatosis 1
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.orpha.net/ORDO/Orphanet_2495' 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.orpha.net/ORDO/Orphanet_98920' 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.orpha.net/ORDO/Orphanet_79364' 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.orpha.net/ORDO/Orphanet_216' 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.orpha.net/ORDO/Orphanet_168491' 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 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[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]
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.orpha.net/ORDO/Orphanet_906' 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.orpha.net/ORDO/Orphanet_903' 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]
Adapted from MESH (excluded functions from this definition which is about processes only)
Replaced by an import from GO, biological process in GO is an exact synonym for physiological process
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.orpha.net/ORDO/Orphanet_861' 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.orpha.net/ORDO/Orphanet_15' instead. New Label : Achondroplasia
use 'http://www.orpha.net/ORDO/Orphanet_637' 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.
Duplicate with Orphanet ontology class which should be used instead: http://www.orpha.net/ORDO/Orphanet_124
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.orpha.net/ORDO/Orphanet_72' instead. New Label : Angelman syndrome
use 'http://www.orpha.net/ORDO/Orphanet_77' 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
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.
use 'http://www.orphanet.org/rdfns#pat_id_207' instead. New Label : Gorlin syndrome
bullous congenital ichthyosiform erythroderma
use 'http://www.orphanet.org/rdfns#pat_id_2079' instead. New Label : Epidermolytic ichthyosis
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.
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
derived from wikipedia http://en.wikipedia.org/wiki/Bundle_branch_block
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.orpha.net/ORDO/Orphanet_1310' instead. New Label : Caffey disease
An osteochondrodysplasia that is caused by a mutation in chromosome 17 which results in bowing in the tibia or femur.
use 'http://www.orpha.net/ORDO/Orphanet_140' instead. New Label : Campomelic dysplasia
Use http://purl.obolibrary.org/obo/UBERON_0002356 label: 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, and abdomen, it constitutes the trunk proper. Perineum includes the anal and urinary genital region.
uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix.
web: http://en.wikipedia.org/wiki/Carpal_tunnel_syndrome
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.
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
derived from wikipedia http://en.wikipedia.org/wiki/Central_core_disease
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.
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.orpha.net/ORDO/Orphanet_821' instead. New Label : Sotos syndrome
use 'http://www.orpha.net/ORDO/Orphanet_166' instead. New Label : Charcot-Marie-Tooth disease
A nervous system disease that is located in the nervous system.
use 'http://www.orpha.net/ORDO/Orphanet_184' instead. New Label : Cherubism
use 'http://www.orpha.net/ORDO/Orphanet_52' 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.
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.
use 'http://www.orpha.net/ORDO/Orphanet_1452' instead. New Label : Cleidocranial dysplasia
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)
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
FINISHING (Sequencing intended 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
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.
CF-S (Cot-filtered single/low-copy genomic DNA)
cot filtration for 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.
CF-M (Cot-filtered moderately repetitive genomic DNA)
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
Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions.
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
MSLL (Methylation Spanning Linker Library)
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.
Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA.
MNase (Micrococcal Nuclease (MNase) digestion)
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 (Physical selection of size appropriate targets)
Size fractionation is a process of selecting targets based on their size.
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).
Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA.
DNAse (Deoxyribonuclease (MNase) digestion)
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 'http://www.orpha.net/ORDO/Orphanet_440' New label: familial hypospadias
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.orpha.net/ORDO/Orphanet_30391' 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.orpha.net/ORDO/Orphanet_156071' 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.orpha.net/ORDO/Orphanet_388' 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). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)
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.orpha.net/ORDO/Orphanet_2573' 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.orpha.net/ORDO/Orphanet_166282' instead. New Label : Familial 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.
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.
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.
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.
10% of flowers to be produced have opened
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.
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
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
angiotensin converting ezyme activity level
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-B 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.
homeostasis model assessment insulin resistance
The HOMA-IR measurement employs the homeostatic model assessment (HOMA) to quantify 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
monocyte early outgrowth 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.
early outgrowth endothelial progenitor cell 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
soluble intercellular adhesion molecule-1
A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events.
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.
Hemoglobin E disease is an autosomal recessive genetic disorder caused by a single point mutation in the hemoglobin molecule.
use 'http://www.orpha.net/ORDO/Orphanet_2133' instead. New Label : Hemoglobin E disease
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
The mean corpuscular gemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell
mean corpuscular haemoglobin concentration
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.orpha.net/ORDO/Orphanet_70589' 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
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.
5-HTT brain serotonin transporter levels
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)
Tazarotene-induced gene 2 protein measurement
Retinoic acid receptor responder protein 2 measurement
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)
A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL.
endothelial-leukocyte adhesion molecule 1measurement
eukocyte-endothelial cell adhesion molecule 2 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.
CD62 antigen-like family member E measurement
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
An alanine transaminase measurement is the quantification of this liver enzyme typically measured in blood.
duplicate with http://www.ebi.ac.uk/efo/EFO_0004735 serum alanine aminotransferase measurement
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
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.
Insulin-Like Growth Factor Binding Protein 3 levels
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.
duplicate class, use http://www.ebi.ac.uk/efo/EFO_0004723 instead
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.
use 'http://www.orphanet.org/rdfns#pat_id_658' instead. New Label : Familial long QT syndrome
Increased time between the start of the Q wave and the end of the T wave.
obsolete_Jervell and Lange-Nielsen syndrome
Cardioauditory Syndrome of Jervell and Lange Nielsen
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.orpha.net/ORDO/Orphanet_90647' instead. New Label : Jervell and Lange-Nielsen syndrome
Prolonged QT Interval in EKG and Sudden Death
Cardioauditory Syndrome of Jervell and Lange-Nielsen
Deafness, Congenital, and Functional Heart Disease
use 'http://www.orphanet.org/rdfns#pat_id_10670' instead. New Label : Familial short QT syndrome
Ventricular tachyarrhythmias occurring in association with short QT 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.
use 'http://www.orpha.net/ORDO/Orphanet_130' instead. New Label : Brugada syndrome
obsolete_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)
use 'http://www.orpha.net/ORDO/Orphanet_3286' instead. New Label : Catecholaminergic polymorphic ventricular tachycardia
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
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]
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.
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
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.
use 'http://www.orpha.net/ORDO/Orphanet_79102' instead. New Label : Thyrotoxic 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)
use 'http://www.orpha.net/ORDO/Orphanet_355' instead. New Label : Gaucher disease
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
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
Lipoprotein-associated phospholipase A(2) level
Lipoprotein-associated phospholipase A(2) levels
Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker.
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 some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid.
monocyte chemoattractant protein-1 measurement
monocyte chemotactic protein-1 measurement
Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation.
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.
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.
Chemokine (C-C motif) ligand 4 measurement
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 social behaviour used in behavioral studies to examine autistic like traits.
A measure of non social behaviour used in behavioral studies to examine autistic like traits.
behavior or behavioral disorder measurement
Measurements used to quantify, or assess individual or population behaviour or disorderd behaviours, 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.orpha.net/ORDO/Orphanet_524' 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.
Is a quantification of any of the alpha globulin class of proteins, typically in serum.
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 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
obsolete_behavior or behavioral disorder measurement
Measurements used to quantify, or assess human behaviour or disorderd behaviours.
duplicated by 'mental or behavioral disorder measurement' (EFO_0004782)
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, including disc area, rim area, cup-to-disc ratio and cup area
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.
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 any molecule involved in the process of inflammatory response.
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
use 'http://www.orphanet.org/rdfns#pat_id_13980' instead. New Label : Granular corneal dystrophy type II
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
obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome
use 'http://www.orpha.net/ORDO/Orphanet_126' instead. New Label : Blepharophimosis-epicanthus inversus-ptosis
A rare genetic disorder in which the eyelids are abnormally shaped
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.orpha.net/ORDO/Orphanet_100' instead. New Label : Ataxia-telangiectasia
tumor stage
All child terms imported from RadLex, with Radlex Xrefs. Closest classification to ArrayExpress type data.
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).
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 RNA from either whole cells or from specific cellular compartment(s)/organelle(s) 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.
Modified from original OBI term to include more than just organelle RNA.
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.
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.
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 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.
Meijer et al, http://genomebiology.com/2011/12/2/R16
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)
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
human mesenchymal stem cell from adipose tissue
A adult mesenchymal stem cell derived from adipose tisssue
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 heart 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
Beck, J.A., et al., Genealogies of mouse inbred strains (2000), Nature, Jan2000, v24, p23
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.
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.
central corneal thickness
A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma.
neuroblastoma cell line
A cell line which is a model for neuroblastoma.
breast adenocarcinoma cell line
A cell line which is a model for breast adenocarcinoma.
hepatoma cell line
A cell line used as model for hepatocellular carcinoma.
cervical adenocarcinoma cell line
A cell line used as a model for cervical adenocarcinoma.
cervical carcinoma cell line
A cell line which is used as a model for cervical carcinoma.
TraDIS sequencing
Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants.
GRO-seq
GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied.
plant population
A plant population is a grouping of plants consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed.
reading is the complex cognitive process of decoding symbols in order to construct or derive meaning
Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
ECC-1
An established epithelial cell line derived from an adenocarcinoma of human endometrial lining.
endometrium adenocarcinoma
CH12.LX
The CH12.LX B cell line derived from the murine CH12 B cell lymphoma.
PFSK-1
Neuroectodermal cell line derived from a cerebral brain tumor.
primitive neuroectodermal tumor
malignant primitive neuroectodermal tumor
Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults.
NT2/D1
The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung
U-87 MG
A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma.
breed
A breed is a specific group of domestic animals or plants having homogeneous appearance, homogeneous behavior, and other characteristics that distinguish it from other animals or plants of the same species and that were arrived at through selective breeding.
A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.
quantification of an individual's occupation, both in terms of employment vs unemployment and in terms of nature of employment, eg self-employment
abnormal mental state resulting from an abuse of methamphetamine
quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease
any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower "remnant" pouch and then re-arranges the small intestine to connect to bot
the process of decreasing the mass of an organsim over time
a large group of disorders characterized by excessive daytime sleepiness
anti-Heliobacter pylori serum IgG measurement
measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection
Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.
drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines
Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal
response to anthracycline-based chemotherapy
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 anthracycline-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 an antimicrotubule agent stimulus.
degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease
TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer.
The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis.
MOLT-3 is a male human malignant T-lymphoblastic cell line.
any structural anomly of the heart that is present from birth
duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab
self-reported assessment of how difficult an individual is to wake
measurement of the time at which sleep begins
dihydroxy docosatrienoic acid measurement
the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure
the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure
cardiovascular disease biomarker measurement
cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses
A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia.
amount of time, usually recorded in minutes, between going to bed and falling asleep
Established from human bone marrow stromal cells transformed by HPV-16 E6/E7.
Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]
Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]
A malignant tumor in the reticulum connective tissue.
Type of epithelial lung cancer arising from glandular origin.
The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation.
A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.
Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis.
A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis.
quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)
non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words
word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words
reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words
ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair.
Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene.
atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted
atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted
A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)
A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)
Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer.
A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation.
A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation
Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells.
quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry
a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)
a form of allergic contact dermatitis that results from exposure to nickel
a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors
bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness
clinical manifestation that occurs as a result of a surgical intervention
sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury
response to angiotensin-converting enzyme inhibitor
Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced.
An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells.
high content analysis of cells by molecular content
An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis.
high content analysis of cells by morphological and physical properties
An image analysis technique to characterise the morphological and physical properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis.
hair loss as a result of chemotherapy treatment
physiological response of an organism, eg in terms of blood pressure, to being fed a diet high in sodium
physiological response of an organism, eg in terms of blood pressure, to being fed a diet low in sodium
response to dietary potassium supplementation
physiological response of an organism to being given potassium as a dietary supplement
physiological response, in terms of blood pressure, heart rate or pain, to a cardiovascular test performed by immersing the hand into ice water, usually for one minute
An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.
A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor.
the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure
The weight of the individual's body fat.
Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth).
A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.
quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires
quantification of the level of joint damage, eg through radiological analysis
one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility
quantification of the protease inhibitor alpha-1-antitrypsin in the blood
soluble suppression of tumorigenicity 2 measurement
A soluble ST2 measurement is the quantification of the ST2 protein. ST2 levels are associated with adverse cardiovascular events.
response to treatment with an inhibitor of mTOR (mammalian Target Of Rapamycin), such as everolimus or rapamycin
quantification of symmetric or asymmetric dimethylarginine in the blood
quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease.
quantification of the volume of grey matter in the brain, usuallly through an MRI scan
quantification of the amino acid derivate homoarginine in the blood
non-substance related disinhibited behaviour
An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high.
An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control.
An array design in which a reporter on an array has no material or buffer was deposited on the array.
An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA.
An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes).
An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone.
An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.
An array design in which a reporter is used a control for reasons such as quality or result verifcation.
This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 6363–6369, 2003). These cells can be terminally differentiated into mature erythroid cells with β-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]
Mouse Embryonic Kidney Fibroblast. As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line.
Mouse hematopoietic suspension cell line positive for CD34. The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]
An embryonic cell line isolated from C57BL/6 mouse strain. Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras.
46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
Neuron class of two pharyngeal neurosecretory-motor neurons.
type of cells that make up muscle layers in the pharynx in worms such as C. elegans
C. elegans at 20 Centigrade: 0-24 hours after L4-adult molt
C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage.
C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells.
C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over.
C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes.
C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation.
C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo.
C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing.
C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over.
C. elegans third stage larva specialized for dispersal and long term survival.
C. elegans first stage larva. At 25 Centigrade, it ranges 14-25.5 hours after fertilization, 0-11.5 hours after hatch.
C. elegans fourth stage larva. At 25 Centigrade, it ranges 40-49.5 hours after fertilization, 26-35.5 hours after hatch.
C. elegans stage when the larval shifts from L2d larva to dauer larva. It includes the synthesis of new cuticle, cease of phrayngeal pumping during a lethargus stage, and the shed off of old cuticle.
C. elegans stage right after a larva recovered from dauer but has not started transformation to L4 larva yet.
quantification of the level of estrogen receptors in a tumor
quantification of the level of progesterone receptors in a tumor
quantification of the level of human epidermal growth factor receptor 2 (HER2) in a tumor
RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules.
Describes the procedure whereby biological samples for an experiment are sourced.
collection of clinical samples from patients, collection of plant materials in a forest, collection of larvae from lab-grown Drosophila flies.
Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues.
Describes the conversion of samples (e.g. RNA samples) to another form (e.g. complementary DNA) with no prior dedicated extraction step of the former form, and no labeling of the converted product with chemical tags or dyes during the process. Other examples of such conversions are bisulphite conversion for DNA methylation analysis, various RNA modifications prior to immunoprecipitation.
The technology type or platform of the reporters on the array.
Controlled terms for descriptors of types of array substrates.
Controlled terms for descriptors for coating of the substrate.
stroke caused by the blockage of blood flow in one of the large arteries feeding the brain
physiological response of an organism, eg in terms of flushing, to consuming alcohol
quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle
quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection
a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi
Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies
Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction.
condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis
response to non-steroidal anti-inflammatory
delayed encephalopathy after acute carbon monoxide poisoning
anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event
A vial is a unique aliquot of biological material e.g. iPSC
Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy.
an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative
thrombin generation potential measurement
quantification of the capacity of a given individual to generate thrombin, measured in plasma and shown to associate with thrombotic disorders
An endocrine system disease that is located_in the adrenal gland.
A carcinoma that starts in the bile duct.
A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.
congenital disorder of glycosylation type I
A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
congenital disorder of glycosylation type II
A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding.
A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development.
A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.
dysembryoplastic Neuroepithelial neoplasm
X-Linked Severe Combined Immunodeficiency
A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth.
A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)
methylmalonic aciduria and homocystinuria type cblE
malignant tumor of the Floor of the Mouth
A gastrointestinal system cancer that is located_in the oral cavity.
A bone development disease that results_in defective development of cartilage or bone.
A penile cancer that is located_in the skin or tissues of the penis.
A gastrointestinal system cancer that is located_in the pharynx.
An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
Indeterminate sex and pseudohermaphroditism
A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone.
A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
A small intestine cancer that develops from epithelial cells and is located_in the small intestine.
A lipid metabolism disorder that involves defects in steroid metabolism.
A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
methylmalonic aciduria and homocystinuria type cblG
abdominal aortic fatty streak
A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques
abdominal aortic raised atherosclerotic lesion
An atherosclerotic abnormality of the abdominal aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions.
age at alcohol diagnosis
The age at which an alcohol diagnosis was made in a human patient
age at breast cancer diagnosis
The age at which a breast cancer diagnosis was made in a human patient
family history of breast cancer
A reported family history of breast cancer in one or more family members.
breast cancer stage
A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system.
cortical opacity measurement
A measure of cortical opacity used in the diagnosis of cataract.
opiate dependence
Strong dependence, both physiological and emotional, upon opiates.
morphine dependence
Strong dependence, both physiological and emotional, upon morphine.
prostate cancer staging
A classification of prostate cancer stage e.g. Gleason grade finding
coronary artery raised atherosclerotic lesion
An atherosclerotic abnormality of the coronary artery used as a container term for fibrous plaques, complicated lesions, and calcified lesions.
thoracic aortic fatty streak
'thoracic aortic raised atherosclerotic lesion'
An atherosclerotic abnormality of the thoracic aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions.
Crohn's colitis is a type of Crohn's disease that affects the large intestine.
Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.
Pancolitis is a severe form of ulcerative colitis.
Perianal Crohn's disease is a type of Crohn's disease affecting the anus.
Proctitis is an inflammation of the rectum.
Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine.
CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array.
The presence of necrosis affecting the intestine.
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.
The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.
Ocular albinism with late-onset sensorineural deafness
Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome.
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
Hereditary cystatin C amyloid angiopathy
Lissencephaly with cerebellar hypoplasia type A
Lissencephaly with cerebellar hypoplasia type B
Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.
Lissencephaly with cerebellar hypoplasia type C
Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
Lissencephaly with cerebellar hypoplasia type D
Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least ± 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
Lissencephaly with cerebellar hypoplasia type E
Lissencephaly with cerebellar hypoplasia type F
Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children.
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation
Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Inherited estrogen-associated angioedema
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-dependent angioneurotic edema
Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
Agramatic variant of primary progressive aphasia
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.
Albright hereditary osteodystrophy-like syndrome
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia - epilepsy - pyorrhea - intellectual disability
Alopecia - epilepsy - pyorrhea - mental subnormality
Porphyria due to ALA dehydratase deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Intellectual disability associated with fragile site FRAXE
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.
Cloverleaf skull - asphyxiating thoracic dysplasia
Autosomal dominant complex spastic paraplegia
Autosomal dominant complicated spastic paraplegia
Autosomal dominant pure spastic paraplegia
Autosomal dominant uncomplicated spastic paraplegia
Autosomal recessive complex spastic paraplegia
Autosomal recessive complicated spastic paraplegia
Autosomal recessive pure spastic paraplegia
Autosomal recessive uncomplicated spastic paraplegia
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 4
Autosomal recessive spastic paraplegia type 5A
Autosomal dominant spastic paraplegia type 6
Autosomal dominant familial spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spastic paraplegia type 9
Cataracts motor neuropathy - short stature - skeletal anomalies
Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Spastic paraplegia - retinal degeneration
Autosomal dominant spastic paraplegia type 17
Distal hereditary motor neuropathy type 5B
Spastic paraplegia-amyotrophy of hands and feet
Autosomal dominant spastic paraplegia type 19
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
Autosomal recessive spastic paraplegia type 20
Childhood-onset spastic paraparesis - distal muscle wasting
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 23
Spastic paraparesis - vitiligo - premature graying - characteristic facies
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia - disc herniation
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 27
Autosomal recessive spastic paraplegia type 28
Autosomal dominant spastic paraplegia type 29
Autosomal recessive spastic paraplegia type 30
Autosomal dominant spastic paraplegia type 31
Female restricted epilepsy with intellectual disability
Familial epilepsy and mental retardation limited to females
Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance.
Autosomal dominant epilepsy with auditory features
Autosomal dominant lateral temporal lobe epilepsy
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 2
X-linked Charcot-Marie-Tooth disease type 3
X-linked Charcot-Marie-Tooth disease type 4
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to CD40L deficiency
Activation-induced cytidine deaminase deficiency
Hyper-IgM syndrome due to CD40 deficiency
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term), described in 23 patients from one American family of Norwegian descent to date, and characterized by late-onset and slowly progressive gait ataxia, and eye movement problems.
Autosomal recessive dopa-responsive dystonia
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy.
Tyrosine hydroxylase-deficient dopa-responsive dystonia
Alopecia - intellectual disability - hypergonadotropic hypogonadism
Rare intellectual disability without developmental anomaly
Rare non-syndromic intellectual deficiency
X-linked diffuse leiomyomatosis - Alport syndrome
Genetic chronic primary adrenal insufficiency
Immunodeficiency predominantly affecting antibody production
Primary immunodeficiency due to a defect in innate immunity
Immunodeficiency due to a complement cascade protein anomaly
Early-onset autosomal dominant Alzheimer disease
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
Early-onset familial autosomal dominant Alzheimer disease
Other syndrome with lissencephaly as a major feature
Uncomplicated familial spastic paraplegia
Uncomplicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia
Autosomal dominant limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Multiple congenital anomalies-intellectual disability with or without dysmorphism
Congenital generalized hypertrichosis, Ambras type
Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss.
Amelogenesis imperfecta - nephrocalcinosis
Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.
Amniotic deformity - adhesion - mutilation syndrome
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders.
Chronic diarrhea due to glucoamylase deficiency
Diarrhea-vomiting due to trehalase deficiency
Congenital enterocyte heparan sulfate deficiency
Epithelio-exfoliative colitis - deafness
Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
Intestinal disease due to vitamin absorption anomaly
Congenital intestinal disease due to an enzymatic defect
Congenital enteropathy involving intestinal mucosa development
Metabolic disease with intestinal involvement
Unclassified intestinal pseudoobstruction
Anemia due to adenosine triphosphatase deficiency
Lethal hemolytic anemia - genital anomalies
Corneal anesthesia - deafness - intellectual disability
Corneal anesthesia - deafness - intellectual deficit is a very rare, neurological, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, unusual facies, patent ductus arteriosus, Hirschprung disease (see this term), short stature, and intellectual disability.
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
Aniridia - renal agenesis - psychomotor retardation
Aniridia - cerebellar ataxia - intellectual disability
Aniridia - ptosis - intellectual disability - familial obesity
Aniridia-intellectual disability syndrome
Ankyloblepharon - ectodermal defects - cleft lip/palate
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Ankyloblepharon filiforme adnatum - cleft palate
Ankyloblepharon filiforme - imperforate anus
Thumb stiffness - brachydactyly - intellectual disability
Isolated lissencephaly type 1 without known genetic defects
Short stature-heart defect-craniofacial anomalies syndrome
Non-syndromic gastroduodenal malformation
Non-syndromic developmental defect of the eye
Syndromic developmental defect of the eye
Anomalie syndromique du développement des yeux
Non-syndromic respiratory or mediastinal malformation
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
Syndrome with limb malformations as a major feature
Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
X-linked cardioskeletal myopathy and neutropenia
Aortic arch anomaly - peculiar facies - intellectual disability
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Circumscribed cutaneous aplasia of the vertex
Recessive aplasia cutis congenita of limbs
Aplasia cutis congenita - intestinal lymphangiectasia
Bartter syndrome is characterised by the association of hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Lung agenesis - heart defect - thumb anomalies
Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.
Ulnar hypoplasia - lobster-claw deformity of feet
Arachnodactyly - abnormal ossification - intellectual disability
Follicular atrophoderma and basal cell carcinomas
Arachnodactyly - intellectual disability - dysmorphism
Mandibulofacial dysostosis, Toriello type
X-linked mandibulofacial dysostosis is characterised by microcephaly, learning disability and anomalies of the branchial arches with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, bilateral hearing loss, and a slightly webbed neck.
X-linked mandibulofacial dysostosis with limb anomalies
Acrorenal defect - ectodermal dysplasia - diabetes
Arrhinia - choanal atresia - microphthalmia
Neurogenic arthrogryposis multiplex congenita
Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy.
Arthrogryposis-like hand anomaly - sensorineural deafness
X-linked distal arthrogryposis multiplex congenita
Spinal muscular atrophy with arthrogryposis
X-linked infantile spinal muscular atrophy
Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).
Arthrogryposis multiplex congenita - whistling face
Arthrogryposis with oculomotor limitation and electroretinal anomalies
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
Distal arthrogryposis with ophthalmoplegia
Arthrogryposis due to muscular dystrophy
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda - progressive arthropathy
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.
Congenital unilateral hypoplasia of depressor anguli oris
Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy.
Autosomal recessive cerebelloparenchymal disorder type 3
Luteinizing hormone-releasing hormone deficiency with ataxia
Cerebellar ataxia - ectodermal dysplasia
Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
Early-onset cerebellar ataxia with retained tendon reflexes
Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of the cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
Benign paroxysmal tonic upgaze of childhood with ataxia
Ataxia - hypogonadism - choroidal dystrophy
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
Lethal ataxia with deafness and optic atrophy
Ataxia-deafness-intellectual disability syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles.
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
X-linked intellectual disability, Atkin type
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
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
Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.
Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases.
Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia.
Optic atrophy - deafness- polyneuropathy - myopathy
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant benign distal spinal muscular atrophy
Congenital benign spinal muscular atrophy with contractures
Congenital nonprogressive spinal muscular atrophy
Spinal atrophy - ophthalmoplegia - pyramidal syndrome
Fibrofolliculomas with trichodiscomas and acrochordons
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Ataxia - diabetes - goiter - gonadal insufficiency
Congenital intrauterine infection-like syndrome
Bilateral band-like calcification with polymicrogyria
Microcephaly - intracranial calcification - intellectual disability
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
Hypertrichosis - atrophic skin - ectropion - macrostomia
Autosomal recessive popliteal pterygium syndrome
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents and is characterized by hydrocephalus, cardiac malformation, dense bones, unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. No new articles since 1984
Hydrocephalus - cardiac malformation - dense bones
Congenital hypoplastic anemia, Blackfan-Diamond type
Intellectual disability - short stature - wedge shaped epiphyses of knees
Metaphyseal acroscyphodysplasia is a bone dysplasia characterized by severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly and typical cup-shaped, large metaphyses.
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving abnormal growth of the facial skeleton, its soft tissue structure and organs and is characterized by mild facial asymmetry with unaffected neurocranium and eyeball, as well as esotropia, amblyopia and/or convergent strabismus, and occasional submucous cleft palate. Transmission is autosomal dominant. No new updates since 1979.
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and decrease in the Arden ratio secondary to egg yolk-like lesion located in the foveal or parafoveal region.
Early-onset vitelliform macular dystrophy
Juvenile-onset vitelliform macular dystrophy
Polymorphic vitelline macular degeneration
Brachydactyly - nystagmus - cerebellar ataxia
Bloom's syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and cancer predisposition.
Blepharonasofacial malformation syndrome
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.
Blepharophimosis - radioulnar synostosis
Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
Blepharoptosis - myopia - ectopia lentis
Blepharophimosis - epicanthus inversus - ptosis
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II).
Encephalopathy - intracerebral calcification - retinal degeneration
Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones.
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
Uncombable hair - retinal pigmentary dystrophy - dental anomalies - brachydactyly
Dermato-cardio-skeletal syndrome, Borrone type
Dermato-cardio-skeletal syndrome, Borrone type, is a dysmorphic syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported from around puberty. With age and the progressive nature of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported.
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
Intellectual deficiency - epilepsy - endocrine disorders
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.
Brachycephaly - deafness - cataract - intellectual disability
Brachydactyly - arterial hypertension syndrome is characterised by the association of brachydactyly and severe hypertension that responds to antihypertensive drugs.
Brachydactyly - mesomelia - intellectual disability - heart defects
Brachymorphism - onychodysplasia - dysphalangism
Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare bone disease that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual deficit. Coffin-Siris syndrome (see this term) and BOD syndrome have been suggested to possibly be allelic variants.
Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.
Brachytelephalangy - dysmorphism - Kallmann syndrome
Branchial dysplasia - intellectual disability - inguinal hernia
Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.
Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
Brachio-skeleto-genital syndrome is a multiple congenital anomalies syndrome characterised by intellectual deficit, maxillary hypoplasia, mandibular prognathism, dental cysts, a broad nasal bridge, hypertelorism, bifid uvula or partial cleft plate, pectus excavatum, fused cervical spinous processes, penoscrotal hypospadias, and Schmorl nodes (vertical disc herniations through the cartilaginous vertebral body endplates).
6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Idiopathic ventricular fibrillation, Brugada type
Sudden unexplained nocturnal death syndrome
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant popliteal pterygium syndrome (PPS) is a rare genetic malformative disorder characterized by cleft lip with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and pyramidal skin fold over hallux nail.
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited disease characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1 apart from the absence of gastrointestinal atresia and short palpebral fissures.
Microcephaly - intellectual disability - tracheoesophageal fistula
Microcephaly - oculo-digito-esophageal-duodenal syndrome
Microcephaly-digital anomalies-normal intelligence syndrome
Oculo-digito-esophageal-duodenal syndrome
Disseminated dermatofibrosis with osteopoikilosis
Distal limb deficiencies - micrognathia syndrome
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. No new updates since 1972.
Camptodactyly-taurinuria syndrome is characterized by the association of a hand malformation involving a contracture deformity of the proximal interphalangeal joints of the fingers with increased excretion of taurine.
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomalies syndrome characterized by a distinct intrauterine growth retardation, skeletal dysplasia with multiple dysmorphisms including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, patella hypoplasia, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. No new updates since 1985.
Camptodactyly syndrome, Guadalajara type 1
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.
'Cantrell pentalogy is a malformation syndrome of unknown etiology that consists of the following five features: midline supraumbilical abdominal wall defects; deficiency of the anterior diaphragm; defects in the diaphragmatic pericardium; defects of the lower sternum and congenital intracardiac defects, with exteriorisation of the heart, or 'ectopia cordis', being the most severe malformation. '
Hyperkeratosis-hyperpigmentation syndrome
Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. No new updates since 1993.
Heart defect-tongue hamartoma-polysyndactyly syndrome
Ketoacidosis due to beta-ketothiolase deficiency
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.
Atrial stand still is a rare cardiac rhythm disease with few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.
Cardiomyopathy - cataract - hip spine disease
Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy associated the extracardiac manifestations premature cataracts and articular disease of the hips and spine including hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. No new updates since 1985.
Maternally-inherited cardiomyopathy and hearing loss
Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has an heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
Maternally-inherited cardiomyopathy and deafness
tRNA-LYS-related cardiomyopathy - hearing loss
Childhood ataxia with diffuse central nervous system hypomyelination
Leukoencephalopathy with vanishing white matter
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).
Atrioventricular defect - blepharophimosis -radial defects
Heart defect - round face - congenital developmental delay
Heart defect  round face  congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.
Myxoma - spotty pigmentation - endocrine overactivity
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
Palmoplantar keratoderma and congenital alopecia, Wallis type
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
Carbohydrate deficient glycoprotein syndrome
Cataract - aberrant oral frenula - growth delay
Cataract - hypertrichosis - intellectual disability
Legius syndrome, also known as NF1-like syndrome, is a very rare, genetic, skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Intractable diarrhea - choanal atresia - eye anomalies
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GSD due to muscle and heart glycogen synthase deficiency
Glycogenosis due to muscle and heart glycogen synthase deficiency
Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Overgrowth - macrocephaly - facial dysmorphism
Leukoencephalopathy - ataxia - hypodontia - hypomyelination
Ataxia - delayed dentition - hypomyelination
Microcephaly - digital anomalies - intellectual disability
Microcephaly - intellectual disability - phalangeal and neurological anomalies
Capillary malformation - arteriovenous malformation
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Neurological conditions associated with aminoacylase 1 deficiency
N-acyl-L-amino acid amidohydrolase deficiency
Lethal congenital contracture syndrome type 2
Multiple contracture syndrome, Israeli-Bedouin type
Lethal congenital contracture syndrome type 3
X-linked intellectual disability - cerebellar hypoplasia
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
Laminopathy with severe metabolic syndrome and myopathy
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
Hypotonia with lactic acidemia and hyperammonemia
Combined oxidative phosphorylation defect type 5
Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities
Cataract - nephropathy - encephalopathy describes a lethal combination of manifestations including small stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. No new updates since 1963.
Pierre Robin syndrome associated with collagen disease
Pierre Robin sequence associated with collagen disease
Pierre Robin syndrome associated with a chromosomal anomaly
Pierre Robin sequence associated with a chromosomal anomaly
Pierre Robin syndrome associated with branchial archs anomalies
Pierre Robin sequence associated with branchial archs anomalies
Pierre Robin syndrome associated with bone disease
Pierre Robin sequence associated with bone disease
Syndrome associated with Pierre Robin syndrome
Syndrome associated with Pierre Robin sequence
Pierre Robin syndrome associated with miscellaneous anomalies
Pierre Robin sequence associated with miscellaneous anomalies
Cataract - intellectual disability - anal atresia - urinary defects
Cataract - intellectual disability - hypogonadism
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Index finger anomaly - Pierre Robin syndrome
Palatodigital syndrome, Catel-Manzke type
Pierre Robin sequence - hyperphalangy - clinodactyly
Pierre Robin syndrome - hyperphalangy - clinodactyly
Pierre Robin syndrome with hyperphalangy and clinodactyly
Cortical blindness - intellectual disability - polydactyly
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
Congenital hemidysplasia with ichthyosiform nevus and limbs defects
Night blindness - skeletal anomalies - dysmorphism
Developmental anomaly of metabolic origin
Malformation syndrome with skin/mucosae involvement
Malformation syndrome with connective tissue involvement
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
Recessive hereditary methemoglobinemia type 1
NADH-cytochrome b5reductase deficiency type 1
Recessive congenital methemoglobinemia type 1
Recessive hereditary methemoglobinemia type 2
NADH-cytochrome b5reductase deficiency type 2
Recessive congenital methemoglobinemia type 2
X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.
Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
Encephalopathy due to prosaposin deficiency
Hypomyelination with atrophy of basal ganglia and cerebellum
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Progressive cavitating leukoencephalopathy
Microtia - eye coloboma - imperforation of the nasolacrimal duct
Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life associated with an absent electrooculogram (EOG) light rise, and a reduced electroretinogram (ERG).
Sex reversion - kidneys, adrenal and lung dysgenesis
Microphthalmia with brain and digit anomalies
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
Autosomal recessive spastic paraplegia type 39
Spastic paraplegia due to neuropathy target esterase mutation
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia due to coenzyme Q10 deficiency
Autosomal recessive cerebellar ataxia type 2
Autosomal recessive spinocerebellar ataxia type 9
Autosomal dominant hereditary hemochromatosis
Hemochromatosis due to defect in ferroportin
Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.
Distal hereditary motor neuropathy type 1
Autosomal dominant distal juvenile spinal muscular atrophy type 1
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Autosomal recessive distal spinal muscular atrophy type 3
Distal hereditary motor neuropathy type 3 and type 4
Distal hereditary motor neuropathy, Jerash type
Autosomal recessive distal spinal muscular atrophy type 2
X-linked distal hereditary motor neuropathy
Hereditary sensory and autonomic neuropathy type 1B
HSAN with cough and gastroesophageal reflux
Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux
Hereditary sensory and autonomic neuropathy with deafness and global delay
Hereditary sensory and autonomic neuropathy with spastic paraplegia
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
Distal hereditary motor neuropathy type 7
Distal spinal muscular atrophy with vocal cord paralysis
Ketoaciduria - intellectual disability - ataxia - deafness
Richards-Rundle syndrome is a very rare disorder characterized by autosomal recessive ataxia, hearing loss, mental deterioration, peripheral muscle wasting, hypergonadotrophic hypogonadism and ketoaciduria.
Homozygous familial hypobetalipoproteinemia
Primary intraosseous vascular malformation
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Autosomal dominant hereditary axonal motor and sensory neuropathy
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
X-linked recessive hereditary axonal motor and sensory neuropathy
Autosomal dominant distal hereditary motor neuropathy
Autosomal dominant distal spinal muscular atrophy
Autosomal recessive distal hereditary motor neuropathy
Autosomal recessive distal spinal muscular atrophy
Hereditary sensory and autonomic neuropathy
Autosomal dominant hereditary sensory and autonomic neuropathy
Autosomal recessive hereditary sensory and autonomic neuropathy
Autosomal dominant slowed nerve conduction velocity
Hair defect - photosensitivity - intellectual disability
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
Woolly hair - hypotrichosis - everted lower lip - outstanding ears
Wooly hair - hypotrichosis - everted lower lip - outstanding ears
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Stapes ankylosis with broad thumbs and toes
Autosomal recessive limb-girdle muscular dystrophy type 2J
Benign familial neonatal-infantile seizures
Ectodermal dysplasia - acanthosis nigricans
Short stature due to primary acid-labile subunit deficiency
Congenital lipomatous overgrowth - vascular malformation - epidermal nevi
Syndactyly - telecanthus - anogenital and renal malformations
This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
Autosomal dominant macrothrombocytopenia
This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
Bilateral microtia - deafness - cleft palate
Palmoplantar keratoderma, Nagashima type
Palmoplantar hyperkeratosis, Nagashima type
Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia
Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia
Primary central nervous system vasculitis
Isolated angiitis of the central nervous system
Primary angiitis of the central nervous system
Primary vasculitis of the central nervous system
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.
Oral-facial-digital syndrome type 11 is an extremely rare, sporadic form of oral-facial-digital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe mental retardation, deafness and congenital heart defects.
Oral-facial-digital syndrome, Gabrielli type
Orofaciodigital syndrome, Gabrielli type
Oral-facial-digital syndrome with retinal abnormalities
Orofaciodigital syndrome with retinal abnormalities
Unilateral or bilateral and asymmetric otomandibular dysplasia
Isolated congenital hypoglossia/aglossia
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
Chondrodysplasia - disorder of sex development
Lethal recessive chondrodysplasia is a lethal form of chondrodysplasia characterized by severe micromelic dwarfism (length at birth is between 35 and 40 cm), short and incurved limbs with normal hands and feet, muscular hypotonia and hyperlaxity of the extremities. Additional features include facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck) and a narrow thorax. Radiological examination reveals short and incurvated diaphyses, over-developed and rounded distal femoral epiphysis in contrast to no ossification of the tibial epiphysis, and small iliac wings. The vertebral bodies are usually normal. A congenital heart defect may be present. 4 cases have been described and most patients die of respiratory distress during the first hours or weeks of life. An autosomal recessive mode of inheritance has been suggested. No new cases presenting the same clinical features of lethal recessive chondrodysplasia have been described since 1988.
Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies.
Hydrops - ectopic calcification - motheaten
Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.
Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms).
Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
Skeletal dysplasia - intellectual disability
Hereditary nonpolyposis colorectal cancer
Hereditary breast and ovarian cancer syndrome
Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.
Chronic infantile neurological cutaneous articular syndrome
Infantile-onset multisystem inflammatory disease
Neonatal-onset multisystem inflammatory disease
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly with hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. To date cleidorhizomelic syndrome has been reported in one family (mother and son) suspecting an autosomal dominant transmission. No new updates since 1988.
Rhizomelic shortness with clavicular defect
Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
Joubert syndrome with congenital hepatic fibrosis
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
Cerebro-oculo-dento-auriculo-skeletal syndrome
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
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual deficit, coarse facial features, and other variable clinical manifestations.
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Carbamoylphosphate synthetase deficiency
Carbamoyl phosphate synthetase 1 deficiency
Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis.
Coloboma of macula - brachydactyly type B
Coloboma of macula - brachydactyly type B syndrome is characterised by the association of pigmented macular coloboma and brachydactyly type B. Other anomalies may include: sensorineural hearing loss, oligodontia (partial absence of teeth), absent kidney, double uterus and double vagina.
Uveal coloboma - cleft lip and palate - intellectual disability
Coloboma of optic nerve with renal disease
Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Atrial septal defect - atrioventricular conduction defects
Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
Contractures - ectodermal dysplasia - cleft lip/palate
Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
Arthrogryposis - hyperkeratosis, lethal form
Lethal congenital contracture syndrome type 1
Multiple contracture syndrome, Finnish type
Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges
Cooks syndrome is characterized by nail anomalies ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails), associated with brachydactyly of the fifth finger, and digitalization of the thumbs (triphalangism).
Aural atresia - multiple congenital anomalies - intellectual disability
Corneal dystrophy with progressive deafness
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
Intellectual disability - hypoplastic corpus callosum - preauricular tag
X-linked complicated corpus callosum dysgenesis
X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
Costovertebral segmentation defect - mesomelia
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Craniodigital syndrome - intellectual disability
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Hypertrichotic osteochondrodysplasia, Cantu type
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Craniofrontonasal dysplasia - Poland anomaly
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly.
Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
Craniosynostosis - alopecia - brain defect
Craniosynostosis - dysmorphism - brachydactyly
Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
Craniosynostosis - midfacial hypoplasia - foot abnormalities
Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities.
Cryptomicrotia - brachydactyly - excess fingertip arch
Cryptomicrotia - brachydactyly - excess fingertip arch describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits ii through v, hypoplastic toenails and excess fingertip arch patterns, reported in one family (mother and son) to date. Cryptomicrotia - brachydactyly - excess fingertip arch is suggested to follow an autosomal dominant transmission. No new updates since 1988.
Cryptorchidism - arachnodactyly - intellectual disability
Corpus callosum agenesis - polysyndactyly
Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development.
Cutis gyrata - acanthosis nigricans - craniosynostosis
Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability.
Bilateral and symmetric oto-mandibular dysplasia
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase IA deficiency
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect.
Otomandibular dysplasia associated with monogenic syndromes
Syndrome or malformation associated with head and neck malformations
Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.
Lymphedema - hypoparathyroidism syndrome
Rare syndrome with cardiac malformations
Dandy-Walker malformation - postaxial polydactyly
Dandy-Walker malformation with postaxial polydactyly is a syndromic disorder with as a major feature the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by posterior fossa cyst communicating with the fourth ventricle, partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly include tetramelic postaxial polydactyly of hands and feet with possible enlargement of fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Dyssegmental dysplasia, Rolland-Desbuquois type
Intellectual disability, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.
Carnitine palmitoyl transferase II deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).
Carnitine palmitoyltransferase deficiency type 2
Retinal detachment - occipital encephalocele
Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.
Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
Hypotrichosis with juvenile macular degeneration
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Hypotrichosis with juvenile macular dystrophy
Retinal degeneration - nanophthalmos - glaucoma
Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).
Congenital or early infantile CACH syndrome
Hypospadias - hypertelorism - coloboma and deafness
Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss.
Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner.
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia with primapterinuria
Mesoaxial synostotic syndactyly with phalangeal reduction
Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.
Pantothenate kinase-associated neurodegeneration
Neurodegeneration with brain iron accumulation type 1
Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.
Early onset prion disease with prominent psychiatric features
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to RAG 1/2 deficiency
Alopecia - progressive neurological defect - endocrinopathy
Oculoauricular syndrome, Schorderet type
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Congenital muscular dystrophy due to LMNA mutation
LMNA-related congenital muscular dystrophy
Deficiency of plasma-membrane carnitine transporter
Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Primary hemophagocytic lymphohistiocytosis
Genetic hemophagocytic lymphohistiocytosis
Suprabasal epidermolysis bullosa simplex
Epidermolysis bullosa simplex due to plakophilin deficiency
Ectodermal dysplasia - skin fragility syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.
Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet.
Dystrophic epidermolysis bullosa, nails only
Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails.
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
Lethal acantholytic epidermolysis bullosa
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.
Carnitine-acylcarnitine translocase deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).
Color blindness, blue monocone monochromatic type
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
2q24 microdeletion syndrome is a chromosomal anomaly giving raise to a clinically recognizable syndrome including eye anomalies (coloboma, cataract and microphthalmia), anomalies of hands and feet (flexion deformities) and congenital heart defects.
Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects.
Hereditary hyperferritinemia with congenital cataracts
Hereditary hyperferritinemia-cataract syndrome
Non-syndromic cerebral malformation due to abnormal neuronal migration
Brain malformation due to abnormal neuronal migration
Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.
Bile acid synthesis defect with cholestasis and malabsorption
Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas.
Spondyloepiphyseal dysplasia, Nishimura type
Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual disability
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.
Spondyloepiphyseal dysplasia, Cantu type
Spondyloepiphyseal dysplasia - brachydactyly - speech disorder
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Spondyloepiphyseal dysplasia, Reardon type
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Spondyloepiphyseal dysplasia tarda, Kohn type
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
Spondyloepiphyseal dysplasia, MacDermot type
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.
Spondyloepiphyseal dysplasia - myopia - sensorineural deafness
Cortical dysplasia - focal epilepsy syndrome
Leukoencephalopathy - dystonia - motor neuropathy
Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
Action myoclonus - renal failure syndrome
Benign familial mesial temporal lobe epilepsy
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease
Acrodermatitis continua suppurativa of Hallopeau
X-linked intellectual disability, Najm type
Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia
Intellectual disability, X-linked, Raymond type
Intellectual disability, X-linked, Nascimento type
X-linked intellectual disability - nail dystrophy - seizures
Intellectual disability, X-linked, Kroes type
X-linked cerebral - cerebellar - coloboma syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
X-linked intellectual disability, Cilliers type
X-linked intellectual disability - microcephaly - testicular failure
X-linked intellectual disability, Van Esch type
Intellectual disability, X-linked - craniofacioskeletal syndrome
X-linked intellectual disability - spastic quadriparesis
Developmental delay - deafness, Hildebrand type
Male sterility due to chromosome Y deletion
Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations.
Orbital cyst with cerebral and focal dermal malformations
Lipidosis with triglyceride storage disease
Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
Renal Fanconi syndrome with nephrocalcinosis and renal stones
X-linked recessive hypercalciuric hypophosphatemic rickets
Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).
Natal teeth - intestinal pseudoobstruction - patent ductus
Müllerian derivatives - lymphangiectasia - polydactyly
Rare genetic gastroenterological disease
Absence of fingerprints - congenital milia
Absence of dermatoglyphics - congenital milia
Familial mesial temporal lobe epilepsy with febrile seizures
Diazoxide-sensitive diffuse hyperinsulinism
Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form
Diazoxide-resistant diffuse hyperinsulinism
Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form
Exercise-induced hyperinsulinemic hypoglycemia
Hyperinsulinism due to SLC16A1 deficiency
Hyperinsulinism due to monocarboxylate transporter 1 deficiency
Selective pituitary resistance to thyroid hormone
Charcot-Marie-Tooth hereditary neuropathy
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia, Beighton type
Multiple epiphyseal dysplasia - myopia - deafness
Multiple epiphyseal dysplasia, Lowry type
Multiple epiphyseal dysplasia with Robin phenotype
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple epiphyseal dysplasia - macrocephaly - distinctive facies
Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Multiple epiphyseal dysplasia, with miniepiphyses
Metaphyseal chondrodysplasia - retinitis pigmentosa
Metaphyseal chondrodysplasia, Kaitila type
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
Fetal-onset olivopontocerebellar hypoplasia
Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
Fatal infantile encephalopathy with mitochondrial respiratory chain defects
Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.
Corneal dystrophy epithelial - short stature
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality.
FASTKD2-related infantile mitochondrial encephalomyopathy
Intellectual disability, Birk-Barel type
Intellectual disability - hypotonia - facial dysmorphism
Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.
Dentinogenesis imperfecta, Shields type 2
Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).
Dentinogenesis imperfecta, Shields type 3
Chondrodysplasia - dentinogenesis imperfecta - joint laxity
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.
Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality
Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in the younger.
Porokeratotic eccrine ostial and dermal duct nevus
Benign partial epilepsy of infancy with complex partial seizures
Benign partial epilepsy with secondarily generalized seizures in infancy
Benign infantile seizures associated to mild gastroenteritis
Benign infantile focal epilepsy with midline spikes and wave during sleep
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Cerebral diseases of vascular origin with epilepsy
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.
Dihydropyrimidine dehydrogenase deficiency
Generalized papular and sclerodermoid lichen myxedematosus
Familial idiopathic dilatation of the right atrium
Rare disease with dentinogenesis imperfecta
Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.
Spondyloepimetaphyseal dysplasia - hypotrichosis
Spondyloepimetaphyseal dysplasia, Bieganski type
Spondyloepimetaphyseal dysplasia - abnormal dentition
Spondyloepimetaphyseal dysplasia, Geneviève type
Congenital neuronal ceroid lipofuscinosis
Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.
Late infantile neuronal ceroid lipofuscinosis
Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.
Spondylometaphyseal dysplasia, Golden type
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis - motor and sensory neuropathy
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).
Congenital myopathy - cleft palate - malignant hyperthermia
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
Hereditary cryohydrocytosis with reduced stomatin
Hereditary North American Indian childhood cirrhosis
Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.
Hyperandrogenism due to cortisone reductase deficiency
11-beta-hydroxysteroid dehydrogenase deficiency type 1
Sudden infant death - dysgenesis of the testes
Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Brain demyelination due to methionine adenosyltransferase deficiency
Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
Methionine adenosyltransferase deficiency
Congenital enteropathy due to enteropeptidase deficiency
Seborrhea-like dermatitis with psoriasiform elements
Mitochondrial non-syndromic 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 non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
Congenital deficiency in alpha-fetoprotein
Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
Hereditary persistence of alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy
Familial scaphocephaly syndrome, McGillivray type
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
Scaphocephaly - macrocephaly - maxillary retrusion - intellectual disability
Autosomal thrombocytopenia with normal platelets
Generalized basaloid follicular hamartoma syndrome
Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia.
Cardiac conduction disease - dilated cardiomyopathy - brachydactyly
Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
Combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation
Combined immunodeficiency due to CD3gamma deficiency
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Combined immunodeficiency due to CRAC channel dysfunction
Immune dysfunction due to T-cell inactivation due to calcium entry defect
Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy
Interleukin-2 receptor alpha chain deficiency
Transient hypogammaglobulinemia of infancy
Recurrent infection due to specific granule deficiency
Immunodeficiency due to an early component of complement deficiency
Immunodeficiency due to a C1, C4, or C2 component complement deficiency
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
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
Autosomal recessive centronuclear myopathy
Autosomal dominant centronuclear myopathy
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Immunodeficiency syndrome with autoimmunity
Immune dysregulation disease with immunodeficiency
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES.
Recurrent Neisseria infections due to factor D deficiency
Moderately severe factor VIII deficiency
Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Congenital vitamin K-dependent coagulation factors deficiency
Fatal infantile lactic acidosis with methylmalonic aciduria
Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset.
Autosomal dominant spastic paraplegia type 37
Autosomal dominant spastic paraplegia type 38
Autosomal recessive spastic paraplegia type 32
Autosomal recessive spastic paraplegia type 35
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
Metabolic myopathy due to lactate transporter defect
Microcephaly - polymicrogyria - corpus callosum agenesis
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Mae infertility due to round-headed spermatozoa
Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness
Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
Prader-Willi-like syndrome due to deletion 6q16
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis
Familial scaphocephaly - radioulnar synostosis
Blindness- scoliosis-arachnodactyly syndrome
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Peripheral neuropathy, Fiskerstrand type
Erythrokeratodermia variabilis, Kamouraska type
Intellectual disability - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia
Intellectual disability - cataracts - kyphosis
Autosomal dominant spastic paraplegia type 42
Spondyloepimetaphyseal dysplasia, aggrecan type
Autosomal dominant pseudohypoaldosteronism type 1
Generalized pseudohypoaldosteronism type 1
Autosomal recessive pseudohypoaldosteronism type 1
Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Myopathy with hexagonally cross-linked tubular arrays
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.
Metaphyseal chondrodysplasia, Schmid type
Congenital hypogonadotropic hypogonadism
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
Non-rhizomelic chondrodysplasia punctata
Hereditary sensory and autonomic neuropathy type 3
Cerebellar ataxia - intellectual disability - dysequilibrium syndrome
Non-progressive cerebellar ataxia - intellectual disability
Gonadal dysgenesis, XY type - associated anomalies
45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.
Craniofacial dysmorphism - coloboma - corpus callosum agenesis
Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by corpus callosum hypoplasia with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
Facial dysmorphism - shawl scrotum - joint laxity
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Prader-Willi syndrome due to imprinting mutation
Symptomatic form of hemophilia A in female carriers
gene (Xq28), encoding coagulation factor VIII.
Symptomatic form of hemophilia B in female carriers
gene (Xq28), encoding coagulation factor IX.
Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
Moderate multiminicore disease with hand involvement
Antenatal multiminicore disease with arthrogryposis multiplex congenita
Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
Syndromic microphthalmia/anophthalmia due to OTX2 mutation
Osteosclerosis-developmental delay-craniosynostosis syndrome
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).
Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis type 7
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Distal myopathy with anterior tibial onset
X-linked myopathy with postural muscle atrophy
Hereditary proximal myopathy with early respiratory failure
Hereditary inclusion body myopathy with early respiratory failure
Myofibrillar myopathy with early respiratory failure
Autosomal dominant non-syndromic intellectual disability
Parkinsonism with alveolar hypoventilation and mental depression
Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
Primary immunodeficiency due to a defect in adaptive immunity
Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
Obesity due to congenital leptin resistance
Obesity due to leptin receptor gene deficiency
Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
Autosomal dominant spondylocostal dysplasia
Autosomal dominant osteosclerosis, Stanescu type
Craniofacial dysostosis - diaphyseal hyperplasia
Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
Partial bilateral aplasia of the Müllerian ducts
Incomplete bilateral aplasia of the Müllerian ducts
Unilateral aplasia of the Müllerian ducts
Complete unilateral aplasia of the Müllerian ducts
Unicornuate uterus without rudimentary horn
Incomplete unilateral aplasia of the Müllerian ducts
Unicornuate uterus with rudimentary horn
Malformative syndrome with dentinogenesis imperfecta
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Hidrotic ectodermal dysplasia, Halal type
Ectodermal dysplasia with skin anomalies and intellectual disability
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.
X-linked hypohidrotic ectodermal dysplasia
This disease is decribed under the entry Hypohidrotic ectodermal dysplasia.
X-linked anhidrotic ectodermal dysplasia
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant anhidrotic ectodermal dysplasia
This disease is described under the entry Hypohidrotic ectodermal dysplasia.
Ectodermal dysplasia - intellectual disability - central nervous system malformation
Rare disorder with hypogonadotropic hypogonadism
Rare disorder with secondary hypogonadism
Hypogonadotropic hypogonadism associated with other endocrinopathies
Short stature due to a defect in growth hormone receptor or post-receptor pathway
Rare disorder with hypergonadotropic hypogonadism
Leukomelanoderma - intellectual disability - hypotrichosis
Ectodermal dysplasia, trichoodontoonychial type
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD).
Syndromic neurometabolic disease with non-X-linked intellectual disability
Syndromic neurometabolic disease with X-linked intellectual disability
Epiphyseal dysplasia - microcephaly - nystagmus
Epiphyseal dysplasia - hearing loss - dysmorphism
Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Spondyloepiphyseal dysplasia - nephrotic syndrome
Polymalformative genetic syndrome with increased risk of developing cancer
Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
Genetic pigmentation anomaly of the skin
Genetic immune deficiency with skin involvement
Genetic central nervous system and retinal vascular disease
Genetic central nervous system malformation
Rare genetic developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome
Genetic renal or urinary tract malformation
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
Genetic respiratory or mediastinal malformation
Anomalie du développement des yeux d'origine génétique
Genetic malformation syndrome with short stature
Genetic branchial arch or oral-acral syndrome
Genetic malformation syndrome with odontal and/or periodontal component
Rare genetic palpebral, lacrimal system and conjunctival disease
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
Rare genetic hypothalamic or pituitary disease
Rare genetic parathyroid disease and phosphocalcic metabolism disorder
Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.
Hyper-IgM syndrome with susceptibility to opportunistic infections
HIGM with susceptibility to opportunistic infections
Hyper-IgM syndrome without susceptibility to opportunistic infections
HIGM without susceptibility to opportunistic infections
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.
IgG subclass deficiency with IgA subclass deficiency
Hermansky-Pudlak syndrome with neutropenia
Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
Genetic susceptibility to infections due to particular pathogens
Pyogenic bacterial infections due to MyD88 deficiency
Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.
Rare genetic gynecological and obstetrical diseases
Rare genetic intellectual disability with developmental anomaly
Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.
Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow.
Bilateral renal agenesis (BRA) is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
Infundibulopelvic stenosis - multicystic kidney
Renal dysplasia - megalocystis - sirenomelia
Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional.
Spondylometaphyseal dysplasia with enchondromatous changes
Spondyloperipheral dysplasia - short ulna
Skeletal dysplasia - epilepsy - short stature
Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
Dyssegmental dysplasia, Silverman-Handmaker type
Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.
Cone rod dystrophy - amelogenesis imperfecta
Congenital muscular dystrophy - infantile cataract - hypogonadism
Oculogastrointestinal muscular dystrophy
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.
Visceral myopathy - familial external ophthalmoplegia
Muscular dystrophy - white matter spongiosis
Autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting.
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Melorheostosis with osteopoikilosisis a type of mixed sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms) and characterized by a variable presentation of limb pain and deformities
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Ectodermal dysplasia - sensorineural deafness
Ectopia lentis - chorioretinal dystrophy - myopia
Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
Intellectual disability - spasticity - ectrodactyly
Primary pigmented nodular adrenocortical disease
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).
Familial isolated hypoparathyroidism due to impaired PTH secretion
Ectrodactyly - ectodermal dysplasia - cleft lip/palate
Ectodermal dysplasia - ectrodactyly - macular dystrophy
Ehlers-Danlos syndrome, arthrochalasic type
Ehlers-Danlos syndrome, arthrochalasia type
2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility.
Ehlers-Danlos syndrome, oculoscoliotic type
Ehlers-Danlos syndrome, dermatosparaxis type
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.
Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of lung. CLE is potentially lethal.
Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal.
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial encephalomyopathy - aminoacidopathy
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the most severe form of age-related epileptic encephalopathy and characterized by the onset of tonic spasm within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Early infantile epileptic encephalopathy with suppression-bursts
Early myoclonic encephalopathy with suppression-bursts
Shoulder and thorax deformity - congenital heart disease
Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity.
Epilepsy with myoclonic-astatic seizures
Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.
Myoclonic-astatic epilepsy in early childhood
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Epilepsy - dementia - amelogenesis imperfecta
Progressive epilepsy - intellectual disability, Finnish type
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
Epilepsy - microcephaly - skeletal dysplasia
Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age.
Epiphyseal stippling syndrome - osteoclastic hyperplasia
Spinocerebellar ataxia and erythrokeratodermia
Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
Exostoses - anetodermia - brachydactyly type E
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.
Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.
Autosomal recessive facio-digito-genital syndrome
Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
Facio-digito-genital syndrome, Kuwait type
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
Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
Bilateral striopallidodentate calcinosis
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
Bifid femur - monodactylous ectrodactyly
Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
Femoral hypoplasia - unusual facies syndrome
Corticosteroid-binding globulin deficiency
Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.
Progressive isolated segmental anhidrosis
Hereditary hypercarotenemia and vitamin A deficiency
Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.
Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps
Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.
Familial clubfoot with or without associated lower limb anomalies
15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, tetanic episodes, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
Endocrine-cerebro-osteodysplasia syndrome
Pancreatic insufficiency - anemia - hyperostosis
Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance
Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.
'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '
Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.
Ectropion inferior - cleft lip and or palate
3-hydroxy-3-methylglutaric aciduria is an organic aciduria due to 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, a key enzyme in ketogenesis and in leucine metabolism. Onset occurs in infancy with transient acidosis and hypoglycemia, hypotonia and vomiting triggered by periods of fasting or infections.
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Cleft lip/palate - intestinal malrotation - cardiopathy
Cleft lip/palate - deafness - sacral lipoma
Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Alar cartilages hypoplasia - coloboma - telecanthus
Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.
Cleft palate - cardiac defect - genital anomalies - ectrodactyly
mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.
Cleft palate - stapes fixation - oligodontia
Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.
Cleft palate - short stature - vertebral anomalies
Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.
Cleft palate-lateral synechia syndrome (CPLS) is a is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.
Congenital fiber-type disproportion myopathy
Autosomal dominant gingival fibromatosis
Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that occurs generally with the eruption of the permanent dentition, more rarely of the primary, or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of varying severity of the gingival tissues. It can be isolated with autosomal dominant inheritance or as part of a syndrome.
Gingival fibromatosis - facial dysmorphism
Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.
Gingival fibromatosis-hypertrichosis syndrome
Congenital generalized hypertrichosis terminalis
Gingival fibromatosis - hypertrichosis is a rare autosomal dominant disorder characterized by generalized enlargement of the gingivae occurring at birth or during childhood that is associated with generalized hypertrichosis developping at birth, during the first years of life, or even at puberty and prominently affecting the face, upper limbs, and midback.
Hirsutism-congenital gingival hyperplasia syndrome
Hypertrichose avec ou sans hyperplasie gingivale
Hypertrichosis with or without gingival hyperplasia
Gingival fibromatosis - progressive deafness
Anomaly of puberty or/and menstrual cycle of genetic origin
Tracheo-esophageal fistula - hypospadias
Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Leukonychia totalis - trichilemmal cysts - ciliary dystrophy
Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.
Hereditary unconjugated hyperbilirubinemia
Bone fragility - craniosynostosis - proptosis - hydrocephalus
Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Diaphragmatic hernia - abnormal face - distal limb anomalies
Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies.
Progressive non-infectious anterior vertebral fusion
Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.
Splenogonadal fusion - limb defects - micrognathia
Posterior fusion of lumbosacral vertebrae - blepharoptosis
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
Microcephaly - hiatus hernia - nephrotic syndrome
Nephrosis - neuronal dysmigration syndrome
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive distal spinal muscular atrophy type 4
Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.
Isolated asymptomatic elevation of creatine phosphokinase
Gamma-aminobutyric acid transaminase deficiency
Non-dystrophic myopathy with collagen 6 anomaly
GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations
Growth delay - alopecia - pseudoanodontia - optic atrophy
Bulbospinal muscular atrophy of children
Generalized bulbospinal muscular atrophy
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
Spinal muscular atrophy associated with central nervous system anomaly
Rare hereditary disease with peripheral neuropathy
Rare hereditary metabolic disease with peripheral neuropathy
Rare hereditary systemic disease with peripheral neuropathy
Rare hereditary neurologic disease with peripheral neuropathy
Cerebellar ataxia with peripheral neuropathy
Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Qualitative or quantitative protein defects in neuromuscular diseases
Qualitative or quantitative defects of sarcoglycan
Qualitative or quantitative defects of alpha-sarcoglycan
Qualitative or quantitative defects of beta-sarcoglycan
Qualitative or quantitative defects of gamma-sarcoglycan
Qualitative or quantitative defects of delta-sarcoglycan
Qualitative or quantitative defects of dysferlin
Qualitative or quantitative defects of caveolin-3
Qualitative or quantitative defects of dystrophin
Qualitative or quantitative defects of collagen 6
Qualitative or quantitative defects of merosin
Qualitative or quantitative defects of integrin alpha-7
Qualitative or quantitative defects of perlecan
Qualitative or quantitative defects of calpain
Qualitative or quantitative defects of TRIM32
Qualitative or quantitative defects of myotubularin
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Qualitative or quantitative defects of FKRP
Qualitative or quantitative defects of fukutin
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
X-linked intellectual disability - epilepsy
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Prominent glabella - microcephaly - hypogenitalism
Prominent glabella  microcephaly  hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Bilateral parasagittal parieto-occipital polymicrogyria
Autosomal dominant cerebellar ataxia type 2
Autosomal dominant cerebellar ataxia type II
, it is thought that both diseases may be allelic.
Congenital nonprogressive spinocerebellar ataxia
Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).
Glomerulonephritis - sparse hair - telangiectasis
Glycogen storage disease due to GLUT2 deficiency
Glycogen storage disease due to hepatic glycogen synthase deficiency
GSD due to hepatic glycogen synthase deficiency
Glycogen storage disease due to liver glycogen synthase deficiency
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992.
Goniodysgenesis - intellectual disability - short stature
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Qualitative or quantitative defects of protein POMGNT1
Qualitative or quantitative defects of protein glycosyltransferase-like
Qualitative or quantitative defects of protein O-mannosyltransferase 1
Qualitative or quantitative defects of protein O-mannosyltransferase 2
Qualitative or quantitative defects of myofibrillar proteins
Qualitative or quantitative defects of desmin
Qualitative or quantitative defects of alphaB-cristallin
Qualitative or quantitative defects of filamin C
Qualitative or quantitative defects of protein ZASP
Qualitative or quantitative defects of titin
Qualitative or quantitative defects of telethonin
Qualitative or quantitative defects of alpha-actin
Multinodular goiter - cystic kidney - polydactyly
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.
Qualitative or quantitative defects of nebulin
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Qualitative or quantitative defects of emerin
Qualitative or quantitative defects of selenoprotein N1
Qualitative or quantitative defects of plectin
Qualitative or quantitative defects of protein SERCA1
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Qualitative or quantitative defects of myotilin
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
Severe neonatal-onset encephalopathy with microcephaly
Severe congenital encephalopathy due to MECP2 mutation
Craniofacial dysostosis - genital, dental, cardiac anomalies
Gorlin-Chaudhry-Moss (GCM) syndrome is an ectodermal dysplasia syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, underdeveloped genitalia, and ocular and dental anomalies.
Autosomal dominant rhegmatogenous retinal detachment
Familial juvenile hyperuricemic nephropathy type 1
Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.
UMOD-associated familial juvenile hyperuricemic nephropathy
Congenital isolated thyroxine-binding globulin deficiency
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).
Choreoathetosis - hypothyroidism - neonatal respiratory distress
Speech and language disorder with orofacial dyspraxia
Cone dystrophy with supernormal rod response
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal scotopic electroretinogram
Idiopathic retinal-aneurysms-neuroretinitis syndrome
Autosomal recessive spastic paraplegia type 18
Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.
Benign familial nocturnal alternating hemiplegia of childhood
Benign familial nocturnal alternating hemiplegia in childhood
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
Developmental delay - hypotonia - extremities hypertrophy
Autosomal recessive intermediate osteopetrosis
Sterile multifocal osteomyelitis with periostitis and pustulosis
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
Interleukin-1 receptor antagonist deficiency
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
Encephalopathy due to urocanase deficiency
Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.
Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
Inherited congenital spastic tetraplegia
Inherited congenital spastic quadriplegia
Lethal polymalformative syndrome, Boissel type
Congenital lethal myopathy, Compton-North type
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.
Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by pure and slowly progressive cerebellar ataxia with a mean age of onset of 52 years and described in 6 patients from one Australian family to date. The causative gene has not yet been discovered but it has been mapped to chromosome 4q34.3-q35.1.
Autosomal dominant proximal spinal muscular atrophy
Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.
Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.
Premature degenerative osteoarthropathy of the hip
Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).
Holoprosencephaly - ectrodactyly - cleft lip palate
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
Cavernous hemangiomas of face - supraumbilical midline raphe
Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms).
Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
L'hémoglobinose E est une hémoglobinopathie caractérisée par la production d'une variante anormale d'hémoglobine connue sous le nom d'hémoglobine E, avec une présentation généralement bénigne et asymptomatique.
Hemolytic-uremic syndrome without diarrhea
Mastocytosis - short stature - hearing loss
Hereditary site-specific ovarian cancer syndrome
Lymphedema - lymphangiectasia - intellectual disability
46,XX ovotesticular disorder of sex development
46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
intellectual disability - epilepsy - bulbous nose
Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.
Diaphragmatic defect - limb deficiency - skull defect
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms).
Syndrome of ocular and facial anomalies, telecanthus and deafness
Lissencephaly type 1 due to doublecortin gene mutation
Hirschsprung disease - type D brachydactyly
Hirschsprung disease - ganglioneuroblastoma
Hirschsprung disease - intellectual disability
Hirschsprung disease - nail hypoplasia - dysmorphism
Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features.
Hirschsprung disease - deafness - polydactyly
Hirsutism - skeletal dysplasia - intellectual disability
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.
Prelingual non-syndromic genetic deafness
Postlingual non-syndromic genetic deafness
Holoprosencephaly - postaxial polydactyly
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).
Isolated congenitally uncorrected transposition of the great arteries
Isolated congenitally uncorrected transposition of the great vessels
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Congenitally uncorrected transposition of the great vessels with cardiac malformation
Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).
Progressive deforming osteogenesis imperfecta
Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).
Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).
Classic pantothenate kinase-associated neurodegeneration
Neurodegeneration with brain iron accumulation type 1, classic form
Atypical pantothenate kinase-associated neurodegeneration
Neurodegeneration with brain iron accumulation type 1, atypical form
Functional methionine synthase deficiency type cblE
Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, classic form
Niemann-Pick disease type C, adult neurologic onset
Functional methionine synthase deficiency type cblG
Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) found almost exclusively in Japan, characterized by the late-onset of cerebellar ataxia, dysarthria, horizontal gaze nystagmus and impaired pursuit and less commonly, pyramidal signs and hearing difficulties, and with a disease duration of over 10 years.
Occipital atretic cephalocele - unusual facies - large feet
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Atypical HUS with thrombomodulin anomaly
Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Male infertility with normal virilization due to meiosis defect
Autosomal recessive childhood-onset cortical cataract
Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness.
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
Mucopolysaccharidosis type 2, attenuated form
Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.
Microcephaly - glomerulonephritis - marfanoid habitus
Bifid nose with or without anorectal and renal anomalies
Familial juvenile hyperuricemic nephropathy type 2
Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).
REN-associated familial juvenile hyperuricemic nephropathy
Macrocephaly - alopecia - cutis laxa - scoliosis
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
Microduplication Xp11.22-p11.23 syndrome
recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
Neurodegenerative syndrome due to cerebral folate transport deficiency
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
Progressive demyelinating neuropathy with bilateral striatal necrosis
Congenital insensitivity to pain with hyperhidrosis
Congenital absence of pain with hyperhidrosis
Congenital indifference to pain with hyperhidrosis
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Hereditary thrombophilia due to congenital HRG deficiency
Neonatal acute respiratory distress with surfactant metabolism deficiency
Chronic respiratory distress with surfactant metabolism deficiency
Glycogen storage disease with hypertrophic cardiomyopathy
Glycogenosis with hypertrophic cardiomyopathy
Lysosomal disease with hypertrophic cardiomyopathy
Mitochondrial disease with hypertrophic cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Syndrome associated with hypertrophic cardiomyopathy
Neuromuscular disease with dilated cardiomyopathy
Mitochondrial disease with dilated cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Syndrome associated with dilated cardiomyopathy
Sensorineural deafness with dilated cardiomyopathy
Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Sensorineural hearing loss with dilated cardiomyopathy
Lysosomal disease with restrictive cardiomyopathy
Familial isolated arrhythmogenic right ventricular dysplasia
Familial isolated arrhythmogenic right ventricular cardiomyopathy
Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.
Familial isolated arrhythmogenic ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
Hydrocephaly - tall stature - joint laxity
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hydrocephalus with stenosis of aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.
X-linked hydrocephalus with stenosis of aqueduct of Sylvius
This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.
Hydrocephalus - blue sclerae - nephropathy
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
Autosomal recessive limb-girdle muscular dystrophy type 2F
#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy.
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Familial primary hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
Hypercalciuria - bilateral macular coloboma
Palmoplantar keratoderma-esophageal carcinoma syndrome
Keratosis palmoplantaris-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner
Succinic semialdehyde dehydrogenase deficiency
Focal palmoplantar and gingival keratoderma
Focal palmoplantar and gingival hyperkeratosis
Palmoplantar keratoderma-spastic paralysis syndrome
Palmoplantar hyperkeratosis-spastic paralysis syndrome
Palmoplantar keratoderma-deafness syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma-hearing loss syndrome
Xeroderma pigmentosum/Cockayne syndrome complex
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by cutaneous features of xeroderma pigmentosum (XP) together with systemic and neurological features of Cockayne syndrome (CS; see this term).
Lysine alpha-ketoglutarate reductase deficiency
Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
Bleeding diathesis due to thromboxane synthesis deficiency
Macrothrombocytopenia with mitral valve insufficiency
Attenuated familial adenomatous polyposis
This syndrome is characterized by severe growth retardation associated with immunodeficiency.
Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
Ankylosing vertebral hyperostosis with tylosis
Maternal hyperphenylalaninemia (HPA) is a rare form of phenyalaninemia (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
Hereditary sclerosing poikiloderma, Weary type
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Poikiloderma with neutropenia, Clericuzio type
Hereditary cerebral cavernous malformation
Familial cerebral cavernous malformation
Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
Hypertelorism - hypospadias - polysyndactyly syndrome
Acro-fronto-facio-nasal dysostosis type 2
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
Aminopterin syndrome-like sine aminopterin
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
Cerebral proliferative glomeruloid vasculopathy
Encephaloclastic proliferative vasculopathy
Hydrocephaly/hydranencephaly due to cerebral vasculopathy
Proliferative vasculopathy and hydranencephaly/hydrocephaly
Combined immunodeficiency with facio-oculo-skeletal anomalies
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Hypertelorism-microtia-facial clefting syndrome
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Malignant hyperthermia - arthrogryposis - torticollis
Cervical hypertrichosis - peripheral neuropathy
Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.
Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Hypogonadotropic hypogonadism - frontoparietal alopecia
Primary hypergonadotropic hypogonadism - partial alopecia
Hypogonadism - mitral valve prolapse - intellectual disability
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Hypogonadotropic hypogonadism - retinitis pigmentosa
Hypoparathyroidism - deafness - renal disease
Mitochondrial oxidative phosphorylation disorder
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis.
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
Ulna hypoplasia - intellectual disability
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
Maternally-inherited diabetes and deafness
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Thumb deformity - alopecia - pigmentation anomaly
Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Sporadic infantile bilateral striatal necrosis
Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Sporadic infantile striatonigral degeneration
Sporadic infantile striatonigral necrosis
Familial infantile bilateral striatal necrosis
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.
Pancreatic hypoplasia - diabetes - congenital heart disease
Fibulo-ulnar hypoplasia - renal anomalies
Mitochondrial disease with peripheral neuropathy
Hyperphenylalaninemia due to dihydropteridine reductase deficiency
Hypospadias - intellectual disability, Goldblatt type
Hypospasdias  intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.
Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.
Genetic transient congenital hypothyroidism
Hypotrichosis-intellectual disability, Lopes type
Immunodeficiency - centromeric instability - facial anomalies
Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Congenital ichthyosis - microcephalus - tetraplegia
Congenital ichthyosis - microcephalus - quadriplegia
Ichthyosis follicularis - alopecia - photophobia
Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.
Ichthyosis follicularis - atrichia - photophobia
Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Ichthyosis - intellectual disability - dwarfism - renal impairment
Autosomal recessive optic atrophy, OPA7 type
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to coronin-1A deficiency
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Progressive neurosensory deafness - hypertrophic cardiomyopathy
Progressive neurosensory hearing loss - hypertrophic cardiomyopathy
Progressive sensorineural deafness - hypertrophic cardiomyopathy
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.
Idiopathic ventricular fibrillation, not Brugada type
Familial paroxysmal ventricular fibrillation, not Brugada type
Autosomal dominant striatal neurodegeneration
Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Patent arterial duct - bicuspid aortic valve - hand anomalies
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.
Dysmorphism - short stature - deafness - disorder of sex development
Dysmorphism - short stature - deafness - pseudohermaphroditism
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
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).
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
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
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
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
Spondylo-megaepiphyseal-metaphyseal dysplasia
Frontonasal dysplasia with alopecia and genital anomaly
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia with alopecia and genital abnomality
Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.
Microcephaly - seizures - developmental delay
Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity.
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
Syndromic multisystem autoimmune disease due to Itch deficiency
Generalized congenital lipodystrophy with myopathy
Generalized congenital lipodystrophy type 4
Solitary median maxillary central incisor syndrome
Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.
Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders.
Familial intestinal polyatresia syndrome
Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome, classic-like type
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects.
Ehlers-Danlos/osteogenesis imperfecta syndrome
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
Absence deformity of leg  cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
Familial multiple lentigines syndrome without systemic involvement
Autosomal recessive spondylocostal dysostosis
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
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
Silver-Russell syndrome due to imprinting defect of 11p15
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
CID T+ B+ due to partial RAG1 deficiency
CID with expansion of gamma delta T cells
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
Transient familial neonatal hyperbilirubinemia
Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.
Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.
Beta-thalassemia associated with another hemoglobin anomaly
Beta-thalassemia associated with another Hb anomaly
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.
Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).
Beta-thalassemia with other manifestations
Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.
Beta-thalassemia - X-linked thrombocytopenia
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
Autosomal dominant hyperimmunoglobulin E syndrome
Alpha-thalassemia - myelodysplastic syndrome
Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive.
Hermansky-Pudlak syndrome with pulmonary fibrosis
Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.
Hermansky-Pudlak syndrome without pulmonary fibrosis
Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.
Late-onset localized junctional epidermolysis bullosa - intellectual disability
Generalized dominant dystrophic epidermolysis bullosa
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
DDEB, Pasini and Cockayne-Touraine types
Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
Alopecia - anosmia - deafness - hypogonadism
Isolated growth hormone deficiency type IA
Congenital isolated GH deficiency type IA
Congenital isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Congenital isolated GH deficiency type IB
Congenital isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Congenital isolated GH deficiency type II
Congenital isolated growth hormone deficiency type II
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
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Epibulbar lipodermoid - preauricular appendage - polythelia
Epibulbar lipodermoid  preauricular appendages  polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.
Joubert syndrome with Senior-Loken syndrome
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.
Cleft lip/palate - abnormal thumbs - microcephaly
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*
Hypoparathyroidism - intellectual disability - dysmorphism
Hypoparathyroidism - short stature - intellectual disability - seizures
Osteopenia - intellectual disability - sparse hair
Epidermolysis bullosa simplex with anodontia/hypodontia
Cleft lip/palate - facial, eye, heart and intestinal anomalies
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.
Short stature - facial and skeletal anomalies - intellectual disability - macrodontia
Non-epidermolytic palmoplantar keratoderma
Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type
Isolated punctate palmoplantar keratoderma
Isolated punctate palmoplantar hyperkeratosis
Keratosis follicularis - dwarfism - cerebral atrophy
Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.
Keratosis follicularis spinulosa decalvans
Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
Keratosis palmoplantaris - periodontopathia - onychogryposis
Palmoplantar hyperkeratosis - periodontopathia - onychogryposis
Palmoplantar keratoderma - periodontopathia - onychogryposis
Familial partial lipodystrophy, Dunnigan type
Muscular pseudohypertrophy - hypothyroidism
Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term).
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Hypotelorism - cleft palate - hypospadias
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis and cleft palate, and the frequent occurrence of hypospadias in males.
Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.
Glycogen storage disease due to lactate dehydrogenase deficiency
GSD due to lactate dehydrogenase deficiency
Glycogenosis due to lactate dehydrogenase deficiency
Larsen-like osseous dysplasia - short stature
Laryngeal abductor paralysis - intellectual disability
Early-onset parkinsonism - intellectual disability
Aseptic necrosis of the capital femoral epiphysis
Osteochondritis of the capital femoral epiphysis
Osteochondrosis of the capital femoral epiphysis
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
Severe X-linked mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf
Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms).
Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
Autosomal recessive lymphoproliferative disease
Atypical hypotonia - cystinuria syndrome
Von Hippel-Lindau-dependent polycythemia
Autosomal recessive early-onset inflammatory bowel disease
Familial clubfoot due to 17q23.1q23.2 microduplication
17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
Hereditary clubfoot due to 17q23.1-q23.2 microduplication
Hyperphenylalaninemia due to BH4 deficiency
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Non-phenylketonuric hyperphenylalaninemia
Leukoencephalopathy-palmoplantar keratoderma syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
Congenital primary megaureter, obstructed form
Congenital primary megaureter, refluxing form
Congenital primary megaureter, nonrefluxing and unobstructed form
Isolated congenital hypogonadotropic hypogonadism
Isolated thyrotropin-releasing hormone deficiency
Isolated TSH-releasing factor deficiency
Isolated thyrotropin-releasing factor deficiency
Familial congenital controlateral synkinesia
Hereditary congenital controlateral synkinesia
Isolated congenital controlateral synkinesia
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
Autosomal dominant limb-girdle muscular dystrophy type 1H
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Megalocornea - spherophakia - secondary glaucoma
Ptosis - syndactyly - learning difficulties
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.
Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).
Dihydrolipoamide dehydrogenase deficiency
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Nasopalpebral lipoma - coloboma - telecanthus
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).
Classical progressive supranuclear palsy
Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.
Progressive supranuclear palsy - parkinsonism
PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.
Progressive supranuclear palsy - pure akinesia with gait freezing
PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.
Progressive supranuclear palsy - corticobasal syndrome
PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.
Progressive supranuclear palsy - progressive non fluent aphasia
PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.
Progressive supranuclear palsy - apraxia of speech
Thickened earlobes - conductive deafness
LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Nijmegen breakage syndrome-like disorder
Microcephaly and chromosomal instability without immunodeficiency
Deafness - nephritis - ano-rectal malformation
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.
Hypergonadotropic hypogonadism - cataract syndrome
This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.
Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings.
46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
Macrocephaly - short stature - paraplegia
Macrocephaly - spastic paraplegia - dysmorphism
46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.
Follicular stimulating hormone-resistant ovaries
Macrosomia - microphthalmia - cleft palate
Dimethylglycine dehydrogenase deficiency
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
Split hand - urinary anomalies - spina bifida
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
Split foot deformity - mandibulofacial dysostosis
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).
X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms).
OXPHOS disease due to nuclear DNA anomalies
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Carbohydrate deficient glycoprotein syndrome type In
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type In
Mandibulofacial dysostosis with preaxial limb anomalies
Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
Cutaneous and mucosal venous malformation
Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.
Familial intestinal malrotation - facial anomalies
Mandibulofacial dysostosis - deafness - postaxial polydactyly
Acrofacial dysostosis, Genee-Wiedmann type
Mandibulfacial dysostosis with postaxial limb anomalies
Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.
Marfanoid habitus - intellectual disability, autosomal recessive
Marfanoid habitus  intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.
Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles.
Arrhythmogenic right ventricular cardiomyopathy
Hyperphosphatasia-intellectual disability syndrome
Hydrometrocolpos - postaxial polydactyly
Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.
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
Autosomal dominant secondary polycythemia
Autosomal dominant secondary erythrocytosis
Primary ciliary dyskinesia - retinitis pigmentosa
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.
Argininosuccinic acid synthase deficiency
Argininosuccinic acid synthetase deficiency
Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term).
Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur.
Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term).
Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
Dysraphism - cleft lip/palate - limb reduction defects
Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
Retinal vasculopathy and cerebral leukodystrophy
Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.
Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells).
Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus.
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females.
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Juvenile cataract - microcornea - renal glucosuria
Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.
MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related attenuated familial polyposis coli
Megalencephalic leukoencephalopathy with subcortical cysts
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
APC-related attenuated familial adenomatous polyposis
APC-related attenuated familial polyposis coli
Autosomal recessive ataxia due to PEX10 deficiency
Mild peroxismal disorder due to PEX10 deficiency
Ectodermal dysplasia - syndactyly syndrome
Ectodermal dysplasia - cutaneous syndactyly syndrome
NLRP12-associated hereditary periodic fever syndrome
Familial cold autoinflammatory syndrome type 2
Megalocornea-intellectual disability syndrome
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal recessive anhidrotic ectodermal dysplasia
Idiopathic hypertrophic osteoarthropathy
Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).
Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.
Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Rare thrombotic disorder due to a constitutional coagulation factors defect
Rare thrombotic disorder due to a constitutional platelet anomaly
Melorheostosis is a rare connective tissue disorder characterized by mesodermal benign sclerosing bone dysplasia that manifests with pain, stiffness, limited joint functions and limb swelling leading to functional limitations.
Upper limb defect - eye and ear abnormalities
Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
Müllerian duct anomalies - limb anomalies
Limb transversal defect - cardiac anomaly
Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
Glutaryl-coenzyme A dehydrogenase deficiency
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal dysostosis - intellectual disability - conductive deafness
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Multiple benign circumferential skin creases on limbs
Micrencephaly - corpus callosum agenesis - abnormal genitalia
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
Autosomal dominant optic atrophy and peripheral neuropathy
Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
Polymicrogyria with optic nerve hypoplasia
5-amino-4-imidazole carboxamide ribosiduria
AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
Paternal uniparental disomy of chromosome 1
Maternal uniparental disomy of chromosome 1
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
Richieri Costa-Guion Almeida-Ramos syndrome
Autosomal recessive primary microcephaly
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
Osteochondritis dissecans and short stature
Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Benign concentric annular macular dystrophy
Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bulls eye configuration.
Parietal foramina with cleidocranial dysplasia
Parietal foramina with cleidocranial dysostosis
Pigmented paravenous retinochoroidal atrophy
Microcephaly - albinism - digital anomalies
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
Sickle cell disease associated with an other hemoglobin anomaly
Hereditary persistence of fetal hemoglobin - sickle cell disease
X-linked intellectual disability - microcephaly - cortical malformation - thin habitus
Localized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails.
46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Microcephaly - cardiac defect - lung malsegmentation
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
Autosomal recessive chorioretinopathy-microcephaly
Microcephaly - seizures - intellectual disability - heart disease
Microcephaly - cervical spine fusion anomalies
Constitutional mismatch repair deficiency syndrome
Microcephaly - brain defect - spasticity - hypernatremia
Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
Microcephaly - lymphedema - chorioretinopathy
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
Microcephaly-microcornea syndrome, Seemanova type
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Microcephaly - deafness - intellectual disability
Microcornea - corectopia - macular hypoplasia
Microcornea - glaucoma - absent frontal sinuses
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Autosomal recessive spastic ataxia type 4
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
Motor developmental delay due to 14q32.2 paternally expressed gene defect
Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
MCA due to 14q32.2 maternally expressed gene defect
Paternal 14q32.2 hypomethylation syndrome
Maternal 14q32.2 hypermethylation syndrome
Genetic hyperferritinemia without iron overload
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies
OXPHOS disease due to mitochondrial DNA anomalies
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA
OXPHOS disease due to a large-scale single deletion of mitochondrial DNA
OXPHOS disease due to a large-scale single deletion of mtDNA
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA
OXPHOS disease due to a point mutation of mitochondrial DNA
OXPHOS disease due to a point mutation of mtDNA
Maternally-inherited mitochondrial myopathy
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA
OXPHOS disease due to a duplication of mitochondrial DNA
OXPHOS disease due to a duplication of mtDNA
Mitochondrial DNA depletion syndrome, encephalomyopathic form
mtDNA depletion syndrome, encephalomyopathic form
Multiple mitochondrial DNA deletion syndrome
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Mitochondrial membrane transport disorder
Mitochondrial substrate carrier disorder
Exercise intolerance with lactic acidosis
Isolated oxidative phosphorylation complex disorder
Isolated respiratory chain complex disorder
Maternally-inherited mitochondrial dystonia
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.
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
Mitochondrial DNA depletion syndrome, hepatocerebral form
mtDNA depletion syndrome, hepatocerebral form
Mitochondrial DNA depletion syndrome, myopathic form
mtDNA depletion syndrome, myopathic form
Mitochondrial spinocerebellar ataxia with epilepsy
Autosomal recessive progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia
Deafness - encephaloneuropathy - obesity - valvulopathy
Hearing loss - encephaloneuropathy - obesity - valvulopathy
Oculoauriculovertebral spectrum with radial defects
Renal tubulopathy - encephalopathy - liver failure
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.
Isolated cytochrome C oxidase deficiency
Isolated mitochondrial respiratory chain complex IV deficiency
Isolated mitochondrial respiratory chain complex V deficiency
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms).
Hereditary progressive dystonia with diurnal fluctuation
Microspherophakia - metaphyseal dysplasia
Verloes-Van Maldergem-de Marneffe syndrome
Autosomal dominant optic atrophy and late-onset deafness
Adult-onset autosomal recessive sideroblastic anemia
) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.
Pyruvate dehydrogenase complex E1 component subunit beta deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Glycine cleavage system L protein deficiency
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
Maternally-inherited infantile subacute necrotizing encephalopathy
Maternally-inherited mitochondrial hypertrophic cardiomyopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Infantile subacute necrotizing encephalopathy with leukodystrophy
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Microphthalmia with linear skin defects syndrome
Microphthalmia - dermal aplasia - sclerocornea
Intellectual disability, Mietens-Weber type
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
Microcephaly - hypergonadotropic hypogonadism - short stature
Early-onset generalized limb-onset dystonia
Early-onset generalized torsion dystonia
Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Pyramidal molar - glaucoma - upper abnormal lip
Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.
Limb girdle dystrophy with epidermolysis bullosa simplex
Alopecia-epilepsy-oligophrenia syndrome, Moynahan type
Cystic fibrosis - gastritis - megaloblastic anemia
Pericardial constriction - growth failure
Klippel-Feil deformity - conductive deafness - absent vagina
MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems.
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Congenital muscular dystrophy due to laminin alpha2 deficiency
Merosin-negative congenital muscular dystrophy
Shoulder and girdle defects - familial intellectual disability
Facial dysmorphism - intellectual disability - short stature - hearing loss
Myoclonus - cerebellar ataxia - deafness
Hereditary myoclonus - progressive distal muscular atrophy
Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts.
Mitochondrial myopathy - lactic acidosis - deafness
Mitochondrial myopathy - lactic acidosis - hearing loss
Mitochondrial myopathy and sideroblastic anemia
Myopathy, lactic acidosis and sideroblastic anemia
X-linked myopathy with excessive autophagy
Methylmalonic acidemia with homocystinuria
Combined defect in adenosylcobalamin and methylcobalamin synthesis
Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms).
Methylmalonic aciduria with homocystinuria
Myopathy - growth delay - intellectual disability - hypospadias
Autosomal recessive sideroblastic anemia
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infection.
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
Distal 7q11.23 microduplication syndrome
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.
Paternal 20q13.2q13.3 microdeletion syndrome
Paternal 20q13.2-q13.3 microdeletion syndrome
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
Partial duplication of the short arm of chromosome 20
Partial trisomy of the short arm of chromosome 20
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
Distal 22q11.2 microduplication syndrome
Glycerol kinase deficiency-contiguous gene syndrome
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.
Secondary hypertrophic osteoperiostosis with pernio
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)
Maternal uniparental disomy of chromosome X
Paternal uniparental disomy of chromosome X
Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
Mowat-Wilson syndrome due to a point mutation
Hirschsprung disease and intellectual disability due to a point mutation
Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.
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
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Blepharophimosis types 1 and 2 due to a point mutation
Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.
Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.
Blepharophimosis types 1 and 2 due to polyA expansion
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
3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
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
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
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
Okihiro syndrome due to 20q13 microdeletion
Duane-radial ray syndrome due to monosomy 20q13
Okihiro syndrome due to a point mutation
Duane-radial ray syndrome due to a point mutation
Kleefstra syndrome due to a point mutation
Partial deletion of the long arm of chromosome 12
Partial monosomy of the long arm of chromosome 12
Partial deletion of the short arm of chromosome 1
Partial monosomy of the short arm of chromosome 1
Partial deletion of the short arm of chromosome 2
Partial monosomy of the short arm of chromosome 2
Partial deletion of the short arm of chromosome 3
Partial monosomy of the short arm of chromosome 3
Partial deletion of the short arm of chromosome 4
Partial monosomy of the short arm of chromosome 4
Partial deletion of the short arm of chromosome 5
Partial monosomy of the short arm of chromosome 5
Partial deletion of the short arm of chromosome 6
Partial monosomy of the short arm of chromosome 6
Partial deletion of the short arm of chromosome 7
Partial monosomy of the short arm of chromosome 7
Partial deletion of the short arm of chromosome 8
Partial monosomy of the short arm of chromosome 8
Partial deletion of the short arm of chromosome 9
Partial monosomy of the short arm of chromosome 9
Partial deletion of the short arm of chromosome 10
Partial monosomy of the short arm of chromosome 10
Partial deletion of the short arm of chromosome 11
Partial monosomy of the short arm of chromosome 11
Partial deletion of the short arm of chromosome 16
Partial monosomy of the short arm of chromosome 16
Partial monosomy of the short arm of chromosome 17
Partial deletion of the short arm of chromosome 17
Partial deletion of the short arm of chromosome 18
Partial monosomy of the short arm of chromosome 18
Partial deletion of the short arm of chromosome 19
Partial monosomy of the short arm of chromosome 19
Partial monosomy of the short arm of chromosome 20
Partial deletion of the short arm of chromosome 20
Severe dystrophinopathy, Duchenne and Becker type
Partial deletion of the long arm of chromosome 1
Partial monosomy of the long arm of chromosome 1
Partial deletion of the long arm of chromosome 2
Partial monosomy of the long arm of chromosome 2
Partial deletion of the long arm of chromosome 3
Partial monosomy of the long arm of chromosome 3
Partial deletion of the long arm of chromosome 4
Partial monosomy of the long arm of chromosome 4
Partial deletion of the long arm of chromosome 5
Partial monosomy of the long arm of chromosome 5
Partial deletion of the long arm of chromosome 6
Partial monosomy of the long arm of chromosome 6
Partial deletion of the long arm of chromosome 7
Partial monosomy of the long arm of chromosome 7
Partial deletion of the long arm of chromosome 8
Partial monosomy of the long arm of chromosome 8
Partial monosomy of the long arm of chromosome 9
Partial deletion of the long arm of chromosome 9
Partial monosomy of the long arm of chromosome 10
Partial deletion of the long arm of chromosome 10
Partial deletion of the long arm of chromosome 11
Partial monosomy of the long arm of chromosome 11
Low birth weight - dwarfism - dysgammaglobulinemia
Partial deletion of the long arm of chromosome 13
Partial monosomy of the long arm of chromosome 13
Partial deletion of the long arm of chromosome 14
Partial monosomy of the long arm of chromosome 14
Partial deletion of the long arm of chromosome 15
Partial monosomy of the long arm of chromosome 15
Partial deletion of the long arm of chromosome 16
Partial monosomy of the long arm of chromosome 16
Partial deletion of the long arm of chromosome 17
Partial monosomy of the long arm of chromosome 17
Partial deletion of the long arm of chromosome 18
Partial monosomy of the long arm of chromosome 18
Partial deletion of the long arm of chromosome 19
Partial monosomy of the long arm of chromosome 19
Partial deletion of the long arm of chromosome 20
Partial monosomy of the long arm of chromosome 20
Partial deletion of the long arm of chromosome 21
Partial monosomy of the long arm of chromosome 21
Partial deletion of the long arm of chromosome 22
Partial monosomy of the long arm of chromosome 22
Partial trisomy/tetrasomy of chromosome 5
Partial duplication/triplication of chromosome 5
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
Partial trisomy/tetrasomy of chromosome 9
Partial duplication/triplication of chromosome 9
Partial trisomy/tetrasomy of the short arm of chromosome 12
Partial duplication/triplication of chromosome 12p
Partial duplication/triplication of the short arm of chromosome 12
Partial trisomy/tetrasomy of chromosome 12p
Partial trisomy/tetrasomy of chromosome 18
Partial duplication/triplication of chromosome 18
Partial duplication of the short arm of chromosome 2
Partial duplication of the short arm of chromosome 3
Partial trisomy of the short arm of chromosome 3
Partial duplication of the short arm of chromosome 4
Partial trisomy of the short arm of chromosome 4
Partial trisomy/tetrasomy of the short arm of chromosome 5
Partial duplication/triplication of chromosome 5p
Partial duplication/triplication of the short arm of chromosome 5
Partial trisomy/tétrasomie of chromosome 5p
Partial duplication of the short arm of chromosome 6
Partial trisomy of the short arm of chromosome 6
Partial duplication of the short arm of chromosome 7
Partial trisomy of the short arm of chromosome 7
Partial duplication of the short arm of chromosome 8
Partial trisomy of the short arm of chromosome 8
Partial trisomy of the short arm of chromosome 9
Partial duplication of the short arm of chromosome 9
Partial duplication of the short arm of chromosome 10
Partial trisomy of the short arm of chromosome 10
Partial duplication of the short arm of chromosome 11
Partial trisomy of the short arm of chromosome 11
Partial duplication of the short arm of chromosome 16
Partial trisomy of the short arm of chromosome 16
Partial duplication of the short arm of chromosome 17
Partial trisomy of the short arm of chromosome 17
Partial trisomy/tetrasomy of the short arm of chromosome 18
Partial duplication/triplication of chromosome 18p
Partial duplication/triplication of the short arm of chromosome 18
Partial trisomy/tetrasomy of chromosome 18p
Partial duplication of the long arm of chromosome 1
Partial trisomy of the long arm of chromosome 1
Partial duplication of the long arm of chromosome 2
Partial trisomy of the long arm of chromosome 2
Partial duplication of the long arm of chromosome 3
Partial duplication of the long arm of chromosome 4
Partial trisomy of the long arm of chromosome 4
Partial trisomy of the long arm of chromosome 5
Partial duplication of the long arm of chromosome 5
Partial duplication of the long arm of chromosome 6
Partial trisomy of the long arm of chromosome 6
Partial duplication of the long arm of chromosome 7
Partial trisomy of the long arm of chromosome 7
Partial duplication of the long arm of chromosome 8
Partial trisomy of the long arm of chromosome 8
Partial trisomy of the long arm of chromosome 9
Partial duplication of the long arm of chromosome 9
Partial duplication of the long arm of chromosome 10
Partial trisomy of the long arm of chromosome 10
Partial duplication of the long arm of chromosome 11
Partial trisomy of the long arm of chromosome 11
Partial duplication of the long arm of chromosome 13
Partial trisomy of the long arm of chromosome 13
Partial duplication of the long arm of chromosome 14
Partial trisomy of the long arm of chromosome 14
Partial duplication of the long arm of chromosome 15
Partial trisomy of the long arm of chromosome 15
Partial trisomy of the long arm of chromosome 16
Partial duplication of the long arm of chromosome 16
Partial duplication of the long arm of chromosome 17
Partial trisomy of the long arm of chromosome 17
Partial trisomy of the long arm of chromosome 18
Partial duplication of the long arm of chromosome 18
Partial duplication of the long arm of chromosome 19
Partial trisomy of the long arm of chromosome 19
Partial trisomy of the long arm of chromosome 20
Partial duplication of the long arm of chromosome 20
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.
Partial duplication of the long arm of chromosome 22
Partial trisomy of the long arm of chromosome 22
Mesomelic dwarfism - cleft palate - camptodactyly
Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
Glycogen storage disease due to glycogenin deficiency
Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
Glycogenosis due to glycogenin deficiency
Microcornea - rod-cone dystrophy - cataract - posterior staphyloma
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
Chondrodysplasia with congenital joint dislocations, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
Spondyloepiphyseal dysplasia, Maroteaux type
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type IIi
Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy.
Congenital disorder of glycosylation type Io
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type IIj
Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type IIg
Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism.
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy due to KCTD7 deficiency
Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.
Generalized peeling skin syndrome type A
Non-inflammatory generalized peeling skin syndrome type A.
Non-inflammatory peeling skin syndrome type A
Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.
Generalized peeling skin syndrome type B
Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.
Generalized peeling skin syndrome type C
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Hereditary epidermolysis bullosa associated with ocular features
Microcephalic osteodysplastic primordial dwarfism type II
Majewski osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
X chromosome number anomaly with female phenotype
X chromosome number anomaly with male phenotype
Partial monosomy of the short arm of chromosome X
Partial duplication of the short arm of chromosome X
Partial deletion of the long arm of chromosome X
Partial trisomy of the short arm of chromosome X
Partial duplication of the long arm of chromosome X
Partial trisomy of the long arm of chromosome X
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated.
Limb-girdle muscular dystrophy due to lamin A/C deficiency
Microcephalic primordial dwarfism, Toriello type
Partial duplication of the short arm of chromosome 1
Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
Glycogenosis due to liver phosphorylase kinase deficiency
Congenital pulmonary alveolar proteinosis
Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.
Short stature - intellectual disability - eye anomalies - cleft lip/palate
Autosomal dominant limb-girdle muscular dystrophy type 1C
Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement.
Limb-girdle muscular dystrophy due to caveolin-3 deficiency
Dwarfism - intellectual disability - eye abnormality
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa
Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape.
Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria.
Limb-girdle muscular dystrophy due to myotilin deficiency
Deafness - cataracts - skeletal anomalies
Adult familial nephronophthisis - spastic quadriparesia
Nephropathy-deafness-hyperparathyroidism syndrome
Nephrosis - deafness - urinary tract - digital malformations
Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances.
Limb girdle muscular dystrophy due to calpain deficiency
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Cyprus facial-neuromusculoskeletal syndrome
Neuroaxonal dystrophy - renal tubular acidosis
Multiple acyl-CoA dehydrogenase deficiency
Electron transfer flavoprotein deficiency
Electron transfer flavoprotein ubiquinone oxidoreductase deficiency
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
Short chain acyl-CoA dehydrogenase deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
Very long chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved.
Limb-girdle muscular dystrophy due to dysferlin deficiency
Hypomyelination neuropathy - arthrogryposis
RAS-associated autoimmune lymphoproliferative disease
Autoimmune lymphoproliferative syndrome type 4
Autoimmune lymphoproliferative syndrome type IV
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.
Classic branched-chain 2-ketoacid dehydrogenase deficiency
Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
Intermediate branched-chain 2-ketoacid dehydrogenase deficiency
Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation.
Intermittent branched-chain 2-ketoacid dehydrogenase deficiency
Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
Thiamine-responsive maple syrup urine disease
Thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency
Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.
Hereditary thrombocytopenia with normal platelets
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Lipoma associated with neurospinal dysraphism
Malformation of the neurenteric canal, spinal cord and column
Isolated focal cortical dysplasia type I
Isolated focal cortical dysplasia type Ia
Isolated focal cortical dysplasia type Ib
Isolated focal cortical dysplasia type Ic
Isolated focal cortical dysplasia type II
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
Isolated focal cortical dysplasia type IIa
Isolated focal cortical dysplasia type IIb
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Congenital non-obstructive hydrocephalus
Congenital non-communicating hydrocephalus
Syndrome with microcephaly as major feature
Genetic non-syndromic central nervous system malformation
Genetic syndrome with a central nervous system malformation as major feature
Genetic syndrome with a cerebellar malformation as major feature
Genetic syndrome with a Dandy-Walker malformation as major feature
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Arthrogryposis - renal dysfunction - cholestasis
Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.
Vitamin B12-unresponsive methylmalonic acidemia
Vitamin B12-unresponsive methylmalonic aciduria
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.
Noonan syndrome-like disorder with loose anagen hair
Partial facial palsy with urinary abnormalities
Oculocerebrofacial syndrome, Kaufman type
Gingival hypertrophy - corneal dystrophy
Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
Cataract - microphthalmia - radiculomegaly - septal heart defect
Familial transthyretin-related amyloidosis
Rare genetic systemic or rheumatologic disease
Oculocerebral hypopigmentation syndrome, Cross type
Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.
Congenital muscular dystrophy, Fukuyama type
Odontomatosis - aortae esophagus stenosis
Blepharophimosis-intellectual disability syndrome, Ohdo type
Taurodontia - absent teeth - sparse hair
Lethal omphalocele-cleft palate syndrome
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
Ophthalmoplegia - intellectual disability - lingua scrotalis
Horizontal gaze palsy with progressive scoliosis
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
Progressive external ophthalmoplegia and scoliosis
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).
Oro-mandibular-limb hypogenesis syndrome
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Severe combined immunodeficiency due to artemis deficiency
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.
Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.
Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
Joubert syndrome with orofaciodigital defect
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
Polydactyly - cleft lip/palate - psychomotor retardation
Oral-facial-digital syndrome, Edwards type
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
Dianzani autoimmune lymphoproliferative disease
Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms).
Orofaciodigital syndrome with fibular aplasia
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Rare bleeding disorder due to a constitutional thrombocytopenia
Rare coagulopathy due to a constitutional thrombocytopenia
Rare hemorrhagic disorder due to a platelets receptors defect
Rare bleeding disorder due to a platelets receptors defect
Rare coagulopathy due to a platelets receptors defect
Sickle cell disease and related diseases
Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.
Idiopathic pulmonary arterial hypertension
Heritable pulmonary arterial hypertension
Familial pulmonary arterial hypertension
Hereditary pulmonary arterial hypertension
Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.
Frontotemporal dementia with motor neuron disease
Frontotemporal dementia with amyotrophic lateral sclerosis
Imperforate oropharynx - costo vetebral anomalies
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
T-B+ severe combined immunodeficiency, X-linked
Osteosarcoma - limb anomalies - erythroid macrocytosis
Genetic neurodegenerative disease with dementia
Genetic frontotemporal degeneration with dementia
Bile acid CoA ligase deficiency and defective amidation
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.
Cerebellar ataxia with azoospermia and intellectual disability
Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males.
Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.
Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.
Mucopolysaccharidosis type 6, rapidly progressing
Arylsulfatase B deficiency, rapidly progressing
Mucopolysaccharidosis type VI, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Arylsulfatase B deficiency, slowly progressing
Mucopolysaccharidosis type VI, slowly progressing
Non-syndromic male infertility due to sperm motility disorder
Non-syndromic male infertility due asthenozoospermia
Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.
Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.
Xeroderma pigmentosum complementation group A
Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers.
Xeroderma pigmentosum complementation group B
Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers.
Xeroderma pigmentosum complementation group C
Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population
Xeroderma pigmentosum complementation group D
Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers.
Xeroderma pigmentosum complementation group E
Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers.
Xeroderma pigmentosum complementation group F
Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers.
Xeroderma pigmentosum complementation group G
Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers.
Hemihyperplasia-multiple lipomatosis syndrome
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Lower motor neuron syndrome with late-adult onset
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Diazoxide-resistant hyperinsulinemic hypoglycemia
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Symptomatic form of Coffin-Lowry syndrome in female carriers
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.
Severe combined immunodeficiency due to adenosine deaminase deficiency
SCID due to adenosine deaminase deficiency
Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Osteogenesis imperfecta - congenital joint contractures
Congenital osteogenesis imperfecta - microcephaly - cataracts
Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
Multicentric carpo-tarsal osteolysis with or without nephropathy
Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
Idiopathic multicentric osteolysis with or without nephropathy
Autosomal recessive distal osteolysis syndrome
Distal osteolysis - short stature - intellectual disability
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.
Osteopathia striata - pigmentary dermopathy - white forelock
Hyperostosis generalisata with striations
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
Osteopetrosis with renal tubular acidosis
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Osteoporosis - oculocutaneous hypopigmentation syndrome
Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Autosomal dominant osteosclerosis, Worth type
Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.
with prominent pachydermia and minimal-to-absent skeletal changes.
Pachygyria - intellectual disability - epilepsy
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Vitamin B12-responsive methylmalonic acidemia
Vitamin B12-responsive methylmalonic aciduria
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
Hyperostosid corticalis deformans juvenilis
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
Methylmalonic aciduria due to transcobalamin receptor defect
Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.
Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.
Pelizaeus-Merzbacher disease, connatal form
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).
Pelizaeus-Merzbacher disease, classic form
The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.
Pelizaeus-Merzbacher disease, transitional form
The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, null syndrome
The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Autosomal recessive limb-girdle muscular dystrophy type 2P
Familial partial lipodystrophy associated with PLIN1 mutations
Autosomal codominant severe lipodystrophic laminopathy
Erythropoietic uroporphyria associated with myeloid malignancy
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Familial omphalocele syndrome with facial dysmorphism
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fatal infantile hypertonic myofibrillar myopathy
Chondrodysplasia with joint dislocations, gPAPP type
Hereditary sensorimotor neuropathy with hyperelastic skin
Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
Familial progressive hyper- and hypopigmentation
Multiple congenital anomalies - hypotonia - seizures syndrome
Occipital malformations of cortical development
Acrodysostosis with multiple hormone resistance
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Congenital muscular dystrophy with mitochondrial structural abnormalities
Megaconial congénital muscular dystrophy
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Severe intellectual disability and progressive spastic paraplegia
Familial recurrent peripheral facial palsy
Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.
Autosomal recessive congenital ichthyosis
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.
Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.
Congenital reticular ichthyosiform erythroderma
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Autosomal ichthyosis syndrome with prominent hair abnormalities
Autosomal ichthyosis syndrome with prominent neurologics signs
Autosomal ichthyosis syndrome with fatal disease course
Autosomal ichthyosis syndrome with other associated signs
Spastic paraplegia - epilepsy - intellectual disability
Spastic paraplegia - glaucoma - intellectual disability
Spastic paraplegia - facial-cutaneous lesions
Spastic paraplegia - nephritis - deafness
Spastic paraplegia - neuropathy - poikiloderma
Autosomal recessive spastic paraplegia type 11
Spastic paraplegia - intellectual disability - thin corpus callosum
Paraplegia - brachydactyly - cone-shaped epiphysis
Paraplegia - intellectual disability - hyperkeratosis
Poikiloderma - alopecia - retrognathism - cleft palate
Rhizomelic dysplasia, Patterson-Lowry type
Short tarsus - absence of lower eyelashes
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).
Progressive encephalopathy - optic atrophy
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Pellagra-like skin rash - neurological manifestations
Keratosis palmoplantaris - corneal dystrophy
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
Pelvic dysplasia - arthrogryposis of lower limbs
Benign chronic familial pemphigus of Hailey-Hailey
Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
Autosomal recessive cerebellar ataxia - psychomotor retardation
Autosomal recessive spinocerebellar ataxia type 11
Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability
Autosomal recessive spinocerebellar ataxia-12
Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 7
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 6
Pontocerebellar hypoplasia - 46,XY disorder of sex development
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
Glycerol kinase deficiency, infantile form
Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and consciousness disorders. Some patients have complex GKD associated with adrenal hypoplasia congenita and / or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.
Glycerol kinase deficiency, juvenile form
Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and consciousness disorders.
Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.
Phosphoserine aminotransferase deficiency
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
GSD due to lactate dehydrogenase H-subunit deficiency
Glycogenosis due to lactate dehydrogenase H-subunit deficiency
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.
Qualitative or quantitative defects of troponin
Qualitative or quantitative defects of tropomyosin
Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, hypermobile type
Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.
Alopecia-intellectual disability syndrome
Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
Rare disease with thoracic aortic aneurysm and aortic dissection
Fibular hypoplasia or aplasia - femoral bowing - oligodactyly
Disorder of folate metabolism and transport
Short stature - wormian bones - dextrocardia
Short stature - webbed neck - heart disease
Short stature - deafness - neutrophil dysfunction - dysmorphism
Short stature - valvular heart disease - characteristic facies
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.
Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.
Craniosynostosis - congenital heart disease - intellectual disability
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.
Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
Phosphoenolpyruvate carboxykinase deficiency
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay.
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
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
Pierre Robin syndrome - faciodigital anomaly
Pierre Robin sequence - faciodigital anomaly
Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).
Pili torti - developmental delay - neurological abnormalities
Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms).
Hypocalcemic vitamin D-dependent rickets
Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
Autosomal recessive hypophosphatemic rickets
Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Pilodental dysplasia - refractive errors
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Hypermethioninemia encephalopathy due to ADK deficiency
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Developmental delay due to ALDH6A1 deficiency
Developmental delay due to MMSDH deficiency
Early-onset myopathy with fatal cardiomyopathy
Intellectual disability - alacrima - achalasia
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
Congenital cataract microcornea with corneal opacity
Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic aciduria
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
BAP1-related tumor predisposition syndrome
Tumor susceptibility linked to germline BAP1 mutations
Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Dysmorphism - conductive hearing loss - heart defect
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Mitochondrial membrane protein associated neurodegeneration
Neurodegeneration with brain iron accumulation type 5
Fatal multiple mitochondrial dysfunction syndrome
Autosomal recessive exfoliative ichthyosis
Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Hereditary arterial and articular multiple calcification syndrome
Intellectual disability, X-linked - plagiocephaly
Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age.
Disorder of lysine and hydroxylysine metabolism
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.
Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
Hypermethioninemia due to glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT deficiency
Brachyolmia-amelogenesis imperfecta syndrome
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Complete deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Vitamin B12-unresponsive methylmalonic aciduria type mut0
Hereditary acrokeratotic poikiloderma, Weary type
Congenital poikiloderma with bullae, Weary type
Hereditary pheochromocytoma-paraganglioma
Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).
SDHx-related paraganglioma-pheochromocytoma
Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
Autoinflammatory syndrome with immune deficiency
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
Postaxial polydactyly - dental and vertebral anomalies
Polydactyly postaxial with median cleft of upper lip
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.
Postaxial polydactyly - intellectual disability
Preaxial polydactyly - colobomata - intellectual disability
Autosomal dominant polycystic liver disease
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).
Polymicrogyria - turricephaly - hypogenitalism
Polyneuropathy - intellectual disability - acromicria - premature menopause
Gastrointestinal polyposis - ectodermal changes
Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes
Familial clubfoot due to 5q31 microdeletion
Hereditary clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Hereditary clubfoot due to PITX1 point mutation
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.
Malignant migrating partial seizures of infancy
Malignant migrating partial epilepsy of infancy
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
BH4-responsive hyperphenylalaninemia/phenylketonuria
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.
Methylmalonic acidemia without homocystinuria
Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.
Methylmalonic aciduria without homocystinuria
Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.
Congenital hereditary endothelial dystrophy type II
Autosomal recessive congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
Congenital hereditary endothelial dystrophy type 2
Infantile hereditary endothelial dystrophy
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
Pyrroline-5-carboxylate reductase 1 deficiency
Blepharophimosis-intellectual disability syndrome
Blepharophimosis-intellectual disability syndrome, MKB type
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, Verloes type
Blepharophimosis-intellectual disability syndrome type V
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Congenital dyserythropoietic anemia type IV
Congenital dyserythropoietic anemia due to KLF1 mutation
Congenital dyserythropoietic anemia type 4
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
Fatal infantile encephalopathy-pulmonary hypertension syndrome
Frontotemporal dementia, right temporal atrophy variant
Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
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
Lethal occipital encephalocele-skeletal dysplasia syndrome
Autosomal dominant keratoconus with early-onset anterior polar cataracts
Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
Rapid-onset childhood obesity - hypothalamic dysfunction-hypoventilation-autonomic dysregulation - neural tumors
Microcephaly-capillary malformation syndrome
Microcephaly-cutaneous capillary malformation syndrome
Neonatal inflammatory skin and bowel disease
Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.
Triphalangeal thumbs - brachyectrodactyly
Carnevale-Hernández-del Castillo syndrome
Split hand or/and split foot malformation
Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.
Dysostosis with combined reduction defects of upper and lower limbs
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Congenital absence of upper arm and forearm with hand present
Humero-radio-ulnar intercalary transverse meromelia
Congenital absence of thigh and lower leg with foot present
Femorotibiofibular intercalary transverse meromelia
Congenital absence of both forearm and hand
Radio-ulnar terminal transverse meromelia
Congenital absence of both lower leg and foot
Tibiofibular terminal transverse meromelia
Congenital absence/hypoplasia of fingers excluding thumb
Triphalangeal thumb - polysyndactyly syndrome
Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.
Familial isolated clinodactyly of fingers
Congenital pseudoarthrosis of the fibula
Congenital pseudoarthrosis of the radius
Humeral intercalary meromelia, unilateral
Humeral intercalary meromelia, bilateral
Femoral intercalary meromelia, unilateral
Femoral intercalary meromelia, bilateral
Radial longitidinal meromelia, unilateral
Radial longitidinal meromelia, bilateral
Ulnar longitudinal meromelia, unilateral
Tibial longitudinal meomelia, unilateral
Fibular longitudinal meomelia, unilateral
Fibular longitudinal meomelia, bilateral
Congenital absence of upper arm and forearm with hand present, unilateral
Humero-radio-ulnar intercalary transverse meromelia, unilateral
Congenital absence of upper arm and forearm with hand present, bilateral
Humero-radio-ulnar intercalary transverse meromelia, bilateral
Congenital absence of thigh and lower leg with foot present, unilateral
Femorotibiofibular intercalary transverse meromelia, unilateral
Congenital absence of thigh and lower leg with foot present, bilateral
Femorotibiofibular intercalary transverse meromelia, bilateral
Congenital absence of both forearm and hand, unilateral
Radio-ulnar terminal transverse meromelia, unilateral
Congenital absence of both forearm and hand, bilateral
Radio-ulnar terminal transverse meromelia, bilateral
Congenital absence of both lower leg and foot, unilateral
Tibiofibular terminal transverse meromelia, unilateral
Congenital absence of both lower leg and foot, bilateral
Tibiofibular terminal transverse meromelia, bilateral
Absent thumb - short stature - immunodeficiency
Congenital absence/hypoplasia of thumb, unilateral
Congenital absence/hypoplasia of thumb, bilateral
Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Symbrachydactyly of hand and foot, unilateral
Symbrachydactyly of hand and foot, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of an index finger, unilateral
Polydactyly of an index finger, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, unilateral
Central polydactyly of fingers, unilateral
Mesoaxial polydactyly of fingers, unilateral
Central polydactyly of fingers, bilateral
Mesoaxial polydactyly of fingers, bilateral
Preaxial polydactyly of toes, unilateral
Postaxial polydactyly of toes, unilateral
Postaxial polydactyly of toes, bilateral
Mesoaxial polydactyly of toes, unilateral
Mesoaxial polydactyly of toes, bilateral
Adducted thumbs - arthrogryposis, Christian type
Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.
Humero-radio-ulnar synostosis, unilateral
Humero-radio-ulnar synostosis, bilateral
Congenital elbow dislocation, unilateral
Congenital patella dislocation, unilateral
Congenital patella dislocation, bilateral
Ehlers-Danlos syndrome, musculocontractural type
Adducted thumbs - arthrogryposis, Dundar type
Ehlers-Danlos syndrome, arthrogryposic type
Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations.
Brachydactyly - scoliosis - carpal fusion
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
Preaxial deficiency - postaxial polydactyly - hypospadias
Intellectual disability, X-linked - dysmorphism - cerebral atrophy
Progeria - short stature - pigmented nevi
Cutis laxa - corneal clouding - intellectual disability
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Non-eruption of teeth - maxillary hypoplasia - genu valgum
46,XX disorder of sex development - anorectal anomalies
Female pseudohermaphrodism - anorectal anomalies
46,XX disorder of sex development - skeletal anomalies
Female pseudohermaphroditism - skeletal anomalies
Pseudoleprechaunism syndrome, Patterson type
Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.
Mitochondrial neurogastrointestinal encephalomyopathy
Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
Pseudopapilledema - blepharophimosis - hand anomalies
Disorder of sex development - intellectual disability
Pseudohermaphroditism - intellectual disability
Eyebrows and eyelashes absence - intellectual disability
Disorder of thiamine metabolism and transport
Pterygium colli - intellectual disability - digital anomalies
Pterygium of the conjunctiva, familial form
Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.
Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
Escobar variant multiple pterygium syndrome
Short stature - craniofacial anomalies - genital hypoplasia
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients.
Iris coloboma-ptosis-intellectual disability syndrome
Uridine monophosphate synthetase deficiency
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 deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion.
Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Bone fragility-contractures-arterial rupture-deafness syndrome
Connective tissue disorder due to LH3 deficiency
Transient infantile hypertriglyceridemia and hepatosteatosis
Transient infantile hypertriglyceridemia and fatty liver
Severe congenital hypochromic anemia with ringed sideroblasts
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.
Severe congenital hypochromic sideroblastic anemia
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-deafness-severe developmental delay syndrome
Lethal neurodegenerative disorder due to copper transport defect
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
Congenital blindness due to retinal non-attachment
Non-syndromic congenital retinal non-attachment
Autosomal recessive systemic lupus erythematosus
PLCG2-associated antibody deficiency and immune dysregulation
Familial cold urticaria with common variable immunodeficiency
Infantile gigantism due to pituitary hyperplasia
Progeroid and marfanoid aspect-lipodystrophy syndrome
Mirror polydactyly - vertebral segmentation - limbs defects
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Carbohydrate deficient glycoprotein syndrome type Ir
Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type Ir
Autosomal recessive infantile hypercalcemia
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Oligodontia - cancer predisposition syndrome
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Leigh syndrome due to pyruvate carboxylase deficiency
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
Dysharmonic skeletal maturation - muscular fiber disproportion
Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Spastic quadriplegia - retinitis pigmentosa - intellectual disability
Cherubism - gingival fibromatosis - intellectual disability
Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
Lutz-Lewandowsky epidermodysplasia verruciformis
Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.
Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms).
Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts
Growth delay - hydrocephaly - lung hypoplasia
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.
Delayed speech - facial asymmetry - strabismus - ear lobe creases
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.
Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
Intellectual disability - balding - patella luxation - acromicria
Intellectual disability - cataracts - calcified pinnae - myopathy
Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Blepharophimosis-intellectual disability syndrome, SBBYS type
Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual disability
Say-Barber-Biesecker-Young-Simpson syndrome
Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.
Intellectual disability - hypotonia - skin hyperpigmentation
intellectual disability - sparse hair - brachydactyly
Intellectual disability, X-linked - seizures - psoriasis
Intellectual disability, X-linked - short stature - obesity
Intellectual disability, X-linked, Brooks type
Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.
Intellectual disability, X-linked, Gu type
Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
Intellectual disability, X-linked, Raynaud type
Intellectual disability, X-linked, Schutz type
Intellectual disability, X-linked, Snyder type
Intellectual disability, X-linked, Wittner type
Congenital sucrase-isomaltase deficiency with starch intolerance
Congenital sucrase-isomaltose malabsorption with starch intolerance
Congenital sucrose intolerance with starch intolerance
Disaccharide intolerance with starch intolerance
Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Congenital sucrase-isomaltose malabsorption with minimal starch tolerance
Congenital sucrose intolerance with minimal starch tolerance
Disaccharide intolerance with minimal starch tolerance
Congenital sucrase-isomaltase deficiency without starch intolerance
Congenital sucrase-isomaltose malabsorption without starch intolerance
Congenital sucrose intolerance without starch intolerance
Disaccharide intolerance without starch intolerance
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
CSID with starch and lactose intolerance
Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance
Congenital sucrose intolerance with starch and lactose intolerance
Disaccharide intolerance with starch and lactose intolerance
Congenital sucrase-isomaltase deficiency without sucrose intolerance
Congenital sucrase-isomaltose malabsorption without sucrose intolerance
Congenital sucrose intolerance without sucrose intolerance
Disaccharide intolerance without sucrose intolerance
mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS.
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
LAMB2-related infantile-onset nephrotic syndrome
Autosomal recessive spastic paraplegia type 48
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).
Familial primary hypomagnesemia with hypocalcuria
Familial primary hypomagnesemia with normocalcuria
Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms).
Isolated hereditary congenital facial paralysis
Congenital hereditary facial paralysis with variable hearing loss
Congenital hereditary facial palsy with variable deafness
Congenital hereditary facial palsy with variable hearing loss
Congenital hereditary facial paralysis with variable deafness
Hereditary acrokeratotic poikiloderma of Kindler-Weary
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Autosomal dominant childhood-onset cortical cataract
Autosomal dominant childhood-onset progressive cortical cataract
Sodium channelopathy-related small fiber neuropathy
X-linked complicated spastic paraplegia type 1
Intellectual disability - microcephaly - phalangeal - facial abnormalities
Frontotemporal neurodegeneration with movement disorder
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.
Epilepsy and/or ataxia with myoclonus as major feature
Non progressive epilepsy and/or ataxia with myoclonus as a major feature
Progressive epilepsy and/or ataxia with myoclonus as a major feature
Intellectual disability - myopathy - short stature - endocrine defect
Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).
Rare parkinsonian syndrome due to genetic neurodegenerative disease
Miscellaneous movement disorder due to genetic neurodegenerative disease
Rare genetic disease with myoclonus as a major feature
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
Intellectual disability - nasal papillomata
Isolated diffuse palmoplantar keratoderma
Isolated diffuse keratosis palmoplantaris
Isolated diffuse palmoplantar hyperkeratosis
Intellectual disability - short stature - hypertelorism
Intellectual disability, X-linked - psychosis - macroorchidism
Disease with diffuse palmoplantar keratoderma as a major feature
Disease with diffuse palmoplantar hyperkeratosis as a major feature
Curly hair-acral keratoderma-caries syndrome
Autosomal dominant diffuse mutilating palmoplantar keratoderma
Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis
Severe X-linked intellectual disability, Gustavson type
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature
Isolated focal palmoplantar hyperkeratosis
Disease with focal palmoplantar keratoderma as a major feature
Disease with focal palmoplantar hyperkeratosis as a major feature
Intellectual disability, Buenos-Aires type
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
Marginal papular palmoplantar keratoderma
Marginal papular palmoplantar hyperkeratosis
Punctate palmoplantar hyperkeratosis type 3 without elastoidosis
Punctate palmoplantar keratoderma type 3 without elastoidosis
Disease with punctate palmoplantar keratoderma as a major feature
Disease with punctate palmoplantar hyperkeratosis as a major feature
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature
Erythrokeratoderma variabilis progressiva
Intellectual disability - polydactyly - uncombable hair
Functional methionine synthase deficiency type cblDv1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
Disorder of beta and omega amino acid metabolism
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Vitamin B12-responsive methylmalonic aciduria, type cblDv2
Disorder of neutral amino acid transport
Erythrocyte galactose epimerase deficiency
Erythrocyte UDP-galactose-4-epimerase deficiency
Erythrocyte epimerase deficiency galactosemia
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
Generalized galactose epimerase deficiency
Generalized UDP-galactose-4-epimerase deficiency
Generalized epimerase deficiency galactosemia
Generalized uridine diphosphate galactose-4-epimerase deficiency
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
Glycogen storage disease due to glycogen synthase deficiency
Glycogenosis due to glycogen synthase deficiency
Glycogen storage disease due to acid maltase deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal.
Glycogen storage disease type 2, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, juvenile onset
Alpha-1,4-glucosidase acid deficiency, juvenile onset
GSD due to acid maltase deficiency, juvenile onset
Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood.
Glycogen storage disease type 2, juvenile onset
Glycogenosis due to acid maltase deficiency, juvenile onset
Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. There is abnormal chorioretinal pigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees.
Glycogen storage disease due to acid maltase deficiency, adult onset
Alpha-1,4-glucosidase acid deficiency, adult onset
GSD due to acid maltase deficiency, adult onset
Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.
Glycogen storage disease type 2, adult onset
Glycogenosis due to acid maltase deficiency, adult onset
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
GBE deficiency, progressive hepatic form
GSD due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogen storage disease type 4, progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogenosis type 4, progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
GBE deficiency, non progressive hepatic form
GSD due to glycogen branching enzyme deficiency, non progressive hepatic form
GSD type 4, non progressive hepatic form
Glycogen storage disease type 4, non progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogenosis type 4, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
GBE deficiency, fatal perinatal neuromuscular form
GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
GSD type 4, fatal perinatal neuromuscular form
GSDIV, fatal perinatal neuromuscular form
Glycogen storage disease type 4, fatal perinatal neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogenosis type 4, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
GBE deficiency, congenital neuromuscular form
GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form
GSD type 4, congenital neuromuscular form
Glycogen storage disease type 4, congenital neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogenosis type 4, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GBE deficiency, childhood combined hepatic and myopathic form
GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GSD type 4, childhood combined hepatic and myopathic form
GSDIV, childhood combined hepatic and myopathic form
Glycogen storage disease type 4, childhood combined hepatic and myopathic form
Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogenosis type 4, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
GBE deficiency, childhood neuromuscular form
GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form
GSD type 4, childhood neuromuscular form
Glycogen storage disease type 4, childhood neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogenosis type 4, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
GBE deficiency, adult neuromuscular form
GSD due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogen storage disease type 4, adult neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogenosis type 4, adult neuromuscular form
Retinopathy - anemia- central nervous system anomalies
Disorder of carbohydrate absorption and transport
Disorder of lipid absorption and transport
Pancreatic triacylglycerol lipase deficiency
Pancreatic triglyceride lipase deficiency
Combined pancreatic lipase-colipase deficiency
Disorder of mitochondrial fatty acid oxidation
3-hydroxyacyl-CoA dehydrogenase deficiency
Disorder of carnitine cycle and carnitine transport
Metabolic disease due to other fatty acid oxidation disorder
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Hexosaminidases A and B deficiency, infantile form
Hexosaminidases A and B deficiency, juvenile form
Hexosaminidases A and B deficiency, adult form
Tay-Sachs disease, B variant, infantile form
GM2-gangliosidosis, B variant, infantile form
Hexosaminidase A deficiency, infantile form
Tay-Sachs disease, B variant, juvenile form
GM2-gangliosidosis, B variant, juvenile form
Hexosaminidase A deficiency, juvenile form
Tay-Sachs disease, B variant, adult form
GM2-gangliosidosis, B variant, adult form
Primary hypomagnesemia with secondary hypocalcemia
Hypomagnesemia caused by selective magnesium malabsorption
Intestinal hypomagnesemia with secondary hypocalcemia
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
Hereditary neurogenic diabetes insipidus
Atypical Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
Metachromatic leukodystrophy, adult form
Lysosomal alpha-D-mannosidase deficiency, infantile form
Lysosomal alpha-D-mannosidase deficiency, adult form
N-acetylgalactosamine-6-sulfate sulfatase deficiency
Free sialic acid storage disease, infantile form
Disorder of lysosomal-related organelles
Disorder of O-N-acetylgalactosaminylglycan synthesis
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Disorder of glycosphingolipid and GPI-anchored proteins glycosylation
Defect in conserved oligomeric Golgi complex
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.
Rhabdomyomatous dysplasia - cardiopathy - genital anomalies
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Disorder of bilirubin metabolism and excretion
Disorder of metabolite absorption and transport
Disorder of vitamin and non-protein cofactor absorption and transport
Disorder of other vitamins and cofactors metabolism and transport
Disorder of mineral absorption and transport
Disorder of iron metabolism and transport
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Alpha-ketoglutarate dehydrogenase deficiency
Oxoglutaric aciduria is a tricarboxylic acid cycle disorder caused by deficiency of alpha ketoglutarate dehydrogenase (oxoglutarate dehydrogenase), characterized by severe psychomotor retardation, hypotonia, ataxia and convulsions (the signs of Leigh's syndrome), as well as sudden death, myocardiopathy, and hepatic disorders.
Myotonia - intellectual disability - skeletal anomalies
Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot
Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations.
Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.
Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
Hereditary areflexic dystasia, Roussy-Lévy type
ATP-binding cassette transporter A1 deficiency
Defective adenosine triphosphate-binding cassette transporter A1
Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.
Bullous congenital ichthyosiform erythroderma of Brock
Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
Sarcosine dehydrogenase complex deficiency
Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
Microcephaly - hypogammaglobulinemia - abnormal immunity
Triphalangeal thumbs - dislocation of patella
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
Early-onset spastic ataxia-neuropathy syndrome
AFG3L2-associated spastic ataxia-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
Hereditary diffuse leukoencephalopathy with spheroids
Pigmentary orthochromatic leukodystrophy
Cerebroretinal microangiopathy with calcifications and cysts
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Infantile cerebellar-retinal degeneration
Developmental and speech delay due to SOX5 deficiency
Papular epidermal nevi with skyline basal cell layers syndrome
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Marfanoid habitus - inguinal hernia - advanced bone age
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Chronic diarrhea due to guanylate cyclase 2C overactivity
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Meconium ileus due to guanylate cyclase 2C deficiency
Hereditary sensory and autonomic neuropathy type 6
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant aplastic anemia and myelodysplasia
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
Young adult-onset distal hereditary motor neuropathy
Autosomal recessive distal spinal muscular atrophy type 5
Nephrogenic diabetes insipidus - intracranial calcification
Craniofacial dysplasia-osteopenia syndrome
Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic ataxia type 3
Duplication of the pituitary gland-plus syndrome
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Combined oxidative phosphorylation defect type 10
Non-progressive cerebellar ataxia with intellectual disability
Autosomal dominant beta2-microglobulinic amyloidosis
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Combined immunodeficiency due to STK4 deficiency
Lethal arteriopathy syndrome due to Fibulin-4 deficiency
Atypical dentin dysplasia due to SMOC2 deficiency
Dentin dysplasia type 1 with microdontia and shape anomalies
Short stature due to partial GHR deficiency
Short stature due to partial growth hormone receptor deficiency
Short stature due to growth hormone secretagogue receptor deficiency
Autosomal dominant proximal renal tubular acidosis
Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
X-linked non progressive cerebellar ataxia
Cataract-congenital heart disease-neural tube defect syndrome
Multiple sclerosis - ichthyosis - factor VIII deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Classic 21-OHD CAH, simple virilizing form
The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Progressive symmetric erythrokeratodermia
Progressiva symmetrica erythrokeratodermia
Progressive symmetric erythrokeratodermia, Gottron type
Partial deletion of the short arm of chromosome 12
Partial monosomy of the short arm of chromosome 12
Lipodystrophy - Rieger anomaly - diabetes
Omphalocele syndrome, Shprintzen-Goldberg type
ShprintzenGoldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
Erythrokeratodermia variabilis, Mendes da Costa type
Infantile convulsions and choreoathetosis
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.
Paroxysmal kinesigenic dyskinesia and infantile convulsions
T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.
T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
Combined immunodeficiency due to ORAI1 deficiency
deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
Combined immunodeficiency due to STIM1 deficiency
deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
Combined immunodeficiency due to ikaros deficiency
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Combined immunodeficiency due to MAGT1 deficiency
Spasticity - intellectual disability - X-linked epilepsy
Spinocerebellar degeneration - corneal dystrophy
Pulmonary veno-occlusive disease (PVOD) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules, leading to increased pulmonary vascular resistance and right ventricular dysfunction.
Holoprosencephaly - radial heart renal anomalies
Congenital myopathy with internal nuclei and atypical cores
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
Diencephalic-mesencephalic junction dysplasia
Chondroectodermal dysplasia with night blindness
Autosomal recessive spastic paraplegia type 53
Inherited renal cell cancer-predisposing syndrome
Autosomal recessive myogenic arthrogryposis multiplex congenita
SYNE1-related arthrogryposis multiplex congenita
Carney complex-trismus-pseudocamptodactyly syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Acute myeloid leukemia with CEBPA somatic mutations
Familial papillary or follicular thyroid carcinoma
Familial pure nonmedullary thyroid carcinoma
Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms).
Autosomal recessive MSMD due to a complete deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
genes which lead to a residual response of IFN-gamma.
Autosomal recessive MSMD due to a partial deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms).
Autosomal dominant MSMD due to a partial deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
MSMD due to complete IFNgammaR2 deficiency
MSMD due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
MSMD due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal dominant MSMD due to partial IFNgammaR2 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
MSMD due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Steroid dehydrogenase deficiency - dental anomalies
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
MSMD due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
X-linked mendelian susceptibility to mycobacterial diseases
) genes. They are characterized by mycobacterial infections, occuring in males.
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Constitutional megaloblastic anemia with severe neurologic disease
Microcephalic primordial dwarfism, Alazami type
Microcephalic primordial dwarfism, Dauber type
Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Pure or complex hereditary spastic paraplegia
Pure or complex familial spastic paraplegia
Pure or complicated familial spastic paraplegia
Pure or complicated hereditary spastic paraplegia
Pure or complex autosomal dominant spastic paraplegia
Pure or complicated autosomal dominant spastic paraplegia
Pure or complex autosomal recessive spastic paraplegia
Pure or complicated autosomal recessive spastic paraplegia
Pure or complex X-linked spastic paraplegia
Pure or complicated X-linked spastic paraplegia
Autosomal dominant spastic paraplegia type 41
Autosomal dominant spastic paraplegia type 36
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 49
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 65
Autosomal recessive spastic paraplegia type 44
Spastic paraplegia-optic atrophy-neuropathy syndrome
Autosomal recessive spastic paraplegia type 56
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
White matter hypoplasia - corpus callosum agenesis - intellectual disability
Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
Deaf blind hypopigmentation syndrome, Yemenite type
Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble génétique très rare de la pigmentation de la peau caractérisé par des macules café au lait multiples avec ou sans lentigos au niveau des aisselles ou de la région inguinale.
Deafness - small bowel diverticulosis - neuropathy
Deafness - epiphyseal dysplasia - short stature
Deafness - skeletal dysplasia - coarse face with full lips
Deafness - skeletal dysplasia - lip granuloma
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual deficit, deafness, skeletal abnormalities and coarse facial features.
Bladder exstrophy-epispadias-cloacal extrophy complex
Deafness - enamel hypoplasia - nail defects
Generalized resistance to thyroid hormone
Genetic tumor of hematopoietic and lymphoid tissues
Phosphoribosylpyrophosphate synthetase superactivity
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement.
Deafness - genital anomalies - metacarpal and metatarsal synostosis
Hearing loss - familial salivary gland insensitivity to aldosterone
Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.
Deafness - ear malformation - facial palsy
Progressive deafness with stapes fixation
Conductive deafness - ptosis - skeletal anomalies
Deafness - symphalangism syndrome, Hermann type
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
Mitral regurgitation - deafness - skeletal anomalies
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
Central nervous system calcification - deafness - tubular acidosis - anemia
Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
X-linked intellectual disability due to PQBP1 mutations
X-linked intellectual disability, Renpenning type
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive spinocerebellar ataxia type 13
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell immunodeficiency due to RHOH deficiency
Severe lateral tibial bowing with short stature
Sinoatrial node dysfunction and deafness
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Hereditary inclusion body myopathy type 4
X-linked intellectual disability - cardiomegaly - congestive heart failure
Muscular hypertrophy - hepatomegaly - polyhydramnios
Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type Is
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation
Combined oxidative phosphorylation defect type 11
Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Aphonia - deafness - retinal dystrophy - duplicated halluces - intellectual disability
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Guttate hypopigmentation and punctate palmoplantar keratoderma
Hypopigmentation and punctate keratosis of the palms and soles
gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
Pontocerebellar hypoplasia due to CHMP1A mutation
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Symphalangism with multiple anomalies of hands and feet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.
Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency
Autoinflammation-lipodystrophy-dermatoses syndrome
Proteasome-associated autoinflammatory syndrome
Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature.
Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome
Chromic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by the early-onset of recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development. .
46,XX disorder of sex development induced by fetoplacental androgens excess
46,XX DSD induced by fetoplacental androgens excess
Syndrome with 46,XX disorder of sex development
Cleft lip/palate-ectodermal dysplasia syndrome
Syndactyly-ectodermal dysplasia-cleft/lip palate
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
46,XY ovotesticular disorder of sex development
46,XY disorder of sex development due to impaired androgen production
46,XY DSD due to impaired androgen production
Leydig cell hypoplasia due to LHB deficiency
46,XY DSD due to luteinizing hormone subunit beta deficiency
46,XY disorder of sex development due to LHB deficiency
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
Syndactyly type 1 - microcephaly - intellectual disability
46,XY disorder of sex development due to cholesterol synthesis defect
46,XY DSD due to cholesterol synthesis defect
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Sex chromosome disorder of sex development
46,XY disorder of sex development of gynecological interest
Syndrome with disorder of sex development of gynecological interest
Syndrome with DSD of gynecological interest
Genetic disorder of sex development of gynecological interest
Genetic 46,XX disorder of sex development
Genetic 46,XY disorder of sex development
Genetic 46,XY disorder of sex development of endocrine origin
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
Syndactyly-polydactyly-ear lobe syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.
Radio-ulnar synostosis - intellectual disability - hypotonia
Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.
Catecholaminergic polymorphic ventricular tachycardia
Bidirectional tachycardia induced by catecholamine
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
Double tachycardia induced by catecholamines
Malignant paroxysmal ventricular tachycardia
Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down's syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms).
Plasma thromboplastin antecedent deficiency
Congenital muscular dystrophy with intellectual disability and severe epilepsy
CMD with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type Iu
Congenital disorder of glycosylation type Iu
Tall stature - scoliosis - macrodactyly of the great toes
Tall stature - scoliosis - macrodactyly of the halluces
Developmental delay with autism spectrum disorder and gait instability
Developmental delay with ASD and gait instability
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.
Congenital muscular dystrophy - muscle hypertrophy - severe intellectual disability
Autosomal dominant neovascular inflammatory vitreoretinopathy
Intellectual disability - craniofacial dysmorphism - cryptorchidism
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.
Microcephalic primordial dwarfism, Walsh type
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked central congenital hypothyroidism with late-onset macroorchidism
Congenital chronic diarrhea with protein-losing enteropathy
Congenital chronic diarrhea with exudative enteropathy
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Spondylocostal dysostosis - hypospadias - intellectual disability
Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Beta-propeller protein-associated neurodegeneration
Neurodegeneration with brain iron accumulation type 4
Static encephalopathy of childhood with neurdegeneration in adulthood
Telecanthus - hypertelorism - strabismus - pes cavus
Fatty acid hydroxylase-associated neurodegeneration
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
Hereditary thrombocytosis with transverse limb defect
Familial thrombocytosis with transverse limb defect
Cutaneous hemangioma with muscle or bone atrophy
Autosomal recessive frontotemporal pachygyria
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
Distal arthrogryposis type 5 without ophthalmoparesis
Distal arthrogryposis type 5 without ophthalmoplegia
Autosomal dominant focal dystonia, DYT25
Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms).
Spastic paraplegia - Paget disease of bone
Adult-onset distal myopathy due to VCP mutation
TNF receptor 1 associated periodic syndrome
TRAPS (Tumor necrosis receptor associated periodic fever syndrome) is an autosomal dominant periodic fever syndrome, characterized by severe recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks associated with skin, joint, ocular and serosal inflammation and complicated by AA amyloidosis.
Tumor necrosis factor receptor 1 associated periodic syndrome
Mosaic genome-wide paternal uniparental disomy
Genome-wide paternal uniparental disomy mosaicism
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Ig-mediated membranoproliferative glomerulonephritis
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
Non-Ig-mediated membranoproliferative glomerulonephritis
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Transient neonatal glutaric acidemia type 2
Transient neonatal glutaric aciduria type 2
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.
Generalized juvenile polyposis/juvenile polyposis coli
Isovaleric acid CoA dehydrogenase deficiency
Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported.
Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
Hereditary methemoglobinemia due to hemoglobin mutation
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Congenital cataract - progressive muscular hypotonia - deafness - developmental delay
Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
Genetic multiple congenital anomalies - variable intellectual disability with or without dysmorphism
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)
Fallot complex - intellectual disability - growth delay
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
Metaphyseal chondrodysplasia, Jansen type
Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.
Autosomal recessive lethal multiple pterygium syndrome
Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Severe congenital neutropenia - pulmonary hypertension - superficial venous angiectasis
Constitutional neutropenia with extra-haematopoietic manifestations
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to ficolin3 deficiency
Other immunodeficiency syndromes due to defects in innate immunity
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Other immunodeficiency syndrome due to defects in adaptive immunity
Immunodeficiency due to absence of thymus
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
AR hyper-IgE syndrome due to TYK2 deficiency
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Other immunodeficiency syndrome with predominantly antibody defects
Immunodeficiency syndrome with hypopigmentation
Aseptic necrosis of phalangeal epiphyses
Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.
Thiopurine S-methyltransferase deficiency
Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity.
Potter sequence - cleft lip/palate - cardiopathy
Congenital amegakaryocytic thrombocytopenia
Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency
Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia
Absent tibia - polydactyly - arachnoid cyst
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.
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
Bowed tibiae - radial anomalies - osteopenia - fractures
Hypoplastic tibiae - postaxial polydactyly
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
Severe combined immunodeficiency with leukopenia
Corpus callosum agenesis - blepharophimosis - Robin sequence
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
Aplasia cutis congenita - epibulbar dermoids
Torticollis - keloids - cryptorchidism - renal dysplasia
Trichodermodysplasia - dental alterations
Ectodermal dysplasia - cataracts - kyphoscoliosis
Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
Autosomal dominant trichoodontoonychodysplasia-syndactyly
Oxoprolinuria due to oxoprolinase deficiency
Gamma-glutamyl transpeptidase deficiency
Gamma-glutamylcysteine synthetase deficiency
Trichomegaly - cataract - hereditary spherocytosis
Trichomegaly - retina pigmentary degeneration - dwarfism
Long eyelashes - intellectual disability
Trigonocephaly - bifid nose - acral anomalies
Trigonocephaly - short stature - developmental delay
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).
Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.
Isolated anterior cervical hypertrichosis
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.
Renal dysplasia - mesomelia - radiohumeral fusion
Umbilical cord ulceration - intestinal atresia
Hip dysplasia - enchondromata - ecchondroma
Intellectual disability - short stature - hand contractures - genital anomalies
Prader-Willi habitus - osteopenia - camptodactyly
Double uterus - hemivagina - renal agenesis
Double uterus and obstructed hemivagina syndrome
Obstructed hemivagina and ipsilateral renal anomaly
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease.
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Palmoplantar keratoderma with arrythmogenic cardiomyopathy
Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, entirely or predominantly, from the morphologic right ventricle.
Cleft - limb-heart malformation syndrome
Hyperimmunoglobulinemia D with periodic fever
Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
Hyperimmunoglobinemia D with recurrent fever
Microcephaly - brachydactyly - kyphoscoliosis
Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
Phocomelia - thrombocytopenia - encephalocele - urogenital malformations
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.
Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.
Pulmonic stenosis with 'cafe-au-lait' spots
Watson syndrome is a very rare genetic disorder characterized by pulmonary stenosis, café-au-lait spots, short stature and intellectual disability.
Camptodactyly - overgrowth - unusual facies
Heterozygous otospondylomegaepiphyseal dysplasia
Pierre Robin sequence - fetal chondrodysplasia
Pierre Robin syndrome - fetal chondrodysplasia
Intellectual disability - hypsarrhythmia
Autosomal recessive limb-girdle muscular dystrophy type 2G
Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement.
Limb girdle muscular dystrophy due to telethonin deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency.
Limb girdle muscular dystrophy due to FKRP deficiency
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria.
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions.
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy with ITGA7 deficiency
Distal myopathy with early respiratory muscle involvement
Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption resulting in low Mg content of the blood.
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
Isolated autosomal dominant hypomagnesemia
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 polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.
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
The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.
Intellectual disability-developmental delay-contractures syndrome
Foot contractures - muscle atrophy - oculomotor apraxia
Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.
Glycogen storage disease due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity
X-linked intellectual disability - gynecomastia - obesity
Immunodeficiency by defective expression of HLA class 1
Diabetes insipidus - diabetes mellitus - optic atrophy - deafness
Diabetes - hypogonadism - deafness - intellectual disability
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
Cleidocranial dysplasia - micrognathia - absent thumbs
Gingival fibromatosis - hepatosplenomegaly - other anomalies
Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
Coloboma - congenital heart disease - ichthyosiform dermatosis - intellectual disability - ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants.
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and may be complicated by cardiomyopathy.
Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.
Phospholipase A2-associated neurodegeneration
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Neuraminidase deficiency with beta-galactosidase deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Uridine 5' monophosphate hydrolase deficiency
Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltose malabsorption
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
X-linked dominant chondrodysplasia punctata
X-linked chondrodysplasia punctata type 2
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with intense phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome
Congenital ichthyosis - intellectual disability - spastic quadriplegia
Congenital ichthyosis - intellectual disability - spastic tetraplegia
Spectrin-associated autosomal recessive cerebellar ataxia
Autosomal recessive cerebellar ataxia - cognitive defect
Autosomal recessive spinocerebellar ataxia type 14
Spectrin-associated autosomal recessive cerebellar ataxia type 1
Progressive external ophthalmoplegia - myopathy - emaciation
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
mtDNA maintenance syndrome due to MGME1 deficiency
Mitochondrial DNA deletion syndrome with progressive myopathy
Mitochondrial DNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy
mtDNA deletion syndromesyndrome with limb-girdle weakness
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2U
Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement
Digital anomalies - intellectual disability - short stature
Autism spectrum disorder due to AUTS2 deficiency
Intellectual disability - obesity - brain malformations - facial dysmorphism
Autosomal recessive intellectual disability due to TRAPPC9 deficiency
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Combined oxidative phosphorylation defect type 16
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
Focal epilepsy - intellectual disability - dysarthria - ataxia
Progressive myoclonic epilepsy with dystonia
Progressive myoclonus epilepsy with dystonia
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
Brain dopamine-serotonin vesicular transport disease
Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Hereditary benign intraepithelial dyskeratosis
Hereditary benign corneal intraepithelial dyskeratosis
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
X-linked Charcot-Marie-Tooth disease type 6
Cobblestone lissencephaly without muscular or ocular involvement
Cobblestone lissencephaly without muscular or eye involvement
Lissencephaly type 2 without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Lissencephaly type 2 with muscular and ocular involvement
Facial dysmorphism - immunodeficiency - livedo - short stature
Progressive retinal dystrophy due to retinol transport defect
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms).
Minimal pigment oculocutaneous albinism type 1
Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.
Temperature-sensitive oculocutaneous albinism type 1
Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).
Ocular albinism with congenital sensorineural deafness
Waardenburg syndrome type 2 with ocular albinism
Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12.
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Epileptic encephalopathy with global cerebral demyelination
Mitochondrial aspartate-glutamate carrier 1 deficiency
Familial primary localized cutaneous amyloidosis
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Spondyloepiphyseal dysplasia - retinal dystrophy - immunodeficiency
Pyruvate carboxylase deficiency, infantile type
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
Pyruvate carboxylase deficiency, severe neonatal type
Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.
Pyruvate carboxylase deficiency, benign type
Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.
Congenital myasthenic syndromes with glycosylation defect
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms).
Subacute spongiform encephalopathy, Gerstmann-Straussler type
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Combined oxidative phosphorylation defect
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form.
Intellectual disability - hypotonia - spasticity - sleep disorder
Atypical hemolytic-uremic syndrome with DGKE deficiency
Hemolytic-uremic syndrome without diarrhea with DGKE deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Arginine:glycine amidinotransferase deficiency
L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations.
Distal hereditary motor neuropathy with upper motor neuron signs
Neurometabolic disorder due to serine deficiency
Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).
Autosomal recessive cutis laxa type 2, progeroid type
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive cutis laxa type 2, Debré type
Aromatic L-amino acid decarboxylase deficiency
Mandibulofacial dysostosis - macroblepharon - macrostomia
Macroblepharon - ectropion - hypertelorism - macrostomia syndrome
Short ulna - dysmorphism - hypotonia - intellectual disability
Primary non-essential cutis verticis gyrata
Severe combined immunodeficiency due to CARD11 deficiency
Cryptosporidiosis - chronic cholangitis - liver disease
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Synactyly - camptodactyly and clinodactyly of fifth fingers - bifid halluces
Genetic non-syndromic renal or urinary tract malformation
Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Selective cobalamin malabsorption with proteinuria
Hyperinsulinism-hyperammonemia syndrome is a rare energy metabolism disorder characterized clinically by recurrent symptomatic hyperinsulinemic hypoglycemia, mild to moderate persistent hyperammonemia which is generally asymptomatic, and generalized seizures.
Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
Combined deficiency of factor V and factor VIII
Familial multiple coagulation factor deficiency
Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
Genetic intestinal disease due to fat malabsorption
High myopia-sensorineural deafness syndrome
Severe neurodegenerative syndrome with lipodystrophy
Severe neurodegenerative syndrome due to BSCL2 deficiency
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Fatal multiple mitochondrial dysfunction syndrome type 3
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Intellectual disability-strabismus syndrome
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
mtDNA depletion syndrome, hepatocerebrorenal form
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2R
P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
LMNA-related cardiocutaneous progeria syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB-related congenital muscular dystrophy
Mandibular hypoplasia-deafness-progeroid syndrome
X-linked parkinsonism-spasticity syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome
Premature aging syndrome, Penttinen type
1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Spinocerebellar ataxia with altered vertical eye movements
Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements.
Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Brain small vessel disease with hemorrhage
Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy
Hereditary sensory and autonomic neuropathy type 1
Generalized epilepsy with febrile seizures-plus
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).
Koolen-De Vries syndrome due to a point mutation
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Charcot-Marie-Tooth disease with focally folded myelin
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Glycogen storage disease due to glucose-6-phosphatase deficiency
Glycogen storage disease due to G6P deficiency
Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
X-linked intellectual disability due to GRIA3 anomalies
Severe early-childhood-onset retinal dystrophy
Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed.
Infantile epileptic-dyskinetic encephalopathy
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary skeletal dysplasia with micromelia
Dysostosis with limb anomaly as a major feature
Dysostosis with limb and face anomalies as a major feature
Intellectual disability-brachydactyly-Pierre Robin syndrome
Rare bone disease related to a common gene or pathway defect
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal.
Glycogenosis due to acid maltase deficiency
Glycogen storage disease due to glycogen debranching enzyme deficiency
GSD due to glycogen debranching enzyme deficiency
Glycogenosis due to glycogen debranching enzyme deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency
GSD due to glycogen branching enzyme deficiency
Glycogenosis due to glycogen branching enzyme deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
GSD due to muscle glycogen phosphorylase deficiency
Glycogenosis due to muscle glycogen phosphorylase deficiency
Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
Glycogen storage disease due to liver glycogen phosphorylase deficiency
GSD due to liver glycogen phosphorylase deficiency
Glycogenosis due to liver glycogen phosphorylase deficiency
Hepatic glycogen phosphorylase deficiency
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2S
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Recurrent infections-myelofibrosis-nephromegaly syndrome
Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Recurrent infections-bone marrow fibrosis-nephromegaly syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
2p21 microdeletion syndrome without cystinuria
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Early infantile epileptic encephalopathy without suppression burst
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Combined oxidative phosphorylation defect type 17
Aldosterone-producing adenoma with seizures and neurological abnormalities
APA with seizures and neurological abnormalities
Aldosterone-secreting adenoma with seizures and neurological abnormalities
Conn adenoma with seizures and neurological abnormalities
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
Intellectual disability-seizures-macrocephaly-obesity syndrome
Methylmalonic acidemia with homocystinuria, type cblJ
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ
Methylmalonic aciduria with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
Methylmalonic aciduria with homocystinuria, type cblX
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Diffuse palmoplantar keratoderma with painful fissures
Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
Glycogen storage disease due to phosphorylase kinase deficiency
GSD due to phosphorylase kinase deficiency
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).
Glycogen storage disease due to PhK deficiency
Glycogenosis due to phosphorylase kinase deficiency
Focal palmoplantar keratoderma with joint keratoses
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Spondyloepimetaphyseal dysplasia, Isidor type
Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Proximal 16p11.2 microduplication syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.
Rare disorder with dystonia and other neurologic or systemic manifestation
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.
White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Congenital muscular dystrophy due to dystroglycanopathy
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
MEB disease with bilateral multicystic leucodystrophy
Glycogen storage disease due to muscle phosphofructokinase deficiency
GSD due to muscle phosphofructokinase deficiency
Glycogenosis due to muscle phosphofructokinase deficiency
Congenital muscular dystrophy with hyperlaxity
Qualitative or quantitative defects of alpha-dystroglycan
Primary qualitative or quantitative defects of alpha-dystroglycan
Congenital disorder of glycosylation with neurological involvement
X-linked congenital disorder of glycosylation with intellectual disability as a major feature
X-linked CDG with intellectual disability as a major feature
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Non-X-linked CDG with intellectual disability as a major feature
Congenital disorder of glycosylation with epilepsy as a major feature
Congenital disorder of glycosylation with hepatic involvement
Congenital disorder of glycosylation with dilated cardiomyopathy
Congenital disorder of glycosylation with cardiac malformation as a major feature
CDG with cardiac malformation as a major feature
Congenital disorder of glycosylation with intestinal involvement
Congenital disorder of glycosylation-related bone disorder
Congenital disorder of glycosylation with skin involvement
Congenital disorder of glycosylation with nephropathy as a major feature
Congenital disorder of glycosylation with deafness as a major feature
Congenital disorder of glycosylation with developmental anomaly
Hypotonia-speech impairment-severe cognitive delay syndrome
Multicentric osteolysis-nodulosis-arthropathy spectrum
Genetic syndromic esophageal malformation
Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.
Cardiodysrhythmic potassium-sensitive periodic paralysis
Andersen cardiodysrhythmic periodic paralysis
Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
Guanidinoacetate methyltransferase deficiency
GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations.
X-linked mixed deafness with perilymphatic gusher
Conductive deafness with stapes fixation
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
Palmoplantar keratoderma-sclerodactyly syndrome
Palmoplantar hyperkeratosis-sclerodactyly syndrome
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.
Combined immunodeficiency with hypereosinophilia
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Susceptibility to viral and mycobacterial infections
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Fatal post-viral neurodegenerative disorder
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related severe demyelinating Charcot-Marie-Tooth disease
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Familial episodic pain syndrome with predominantly upper body involvement
Familial episodic pain syndrome with predominantly lower limb involvement
Hereditary sensory and autonomic neuropathy type 7
Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
HSAN with hyperhidrosis and gastrointestinal dysfunction
Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
2-methyl-3-hydroxybutyric aciduria, neonatal type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
Feingold syndrome type 1 (FS1) is a rare inherited disease characterized by microcephaly, short stature and numerous digital anomalies.
Microcephaly - intellectual disability - tracheoesophageal fistula type 1
Microcephaly - oculo-digito-esophageal-duodenal syndrome type 1
Microcephaly-digital anomalies-normal intelligence type 1
Oculo-digito-esophageal-duodenal syndrome type 1
Brachydactyly-short stature-microcephaly syndrome
Feingold syndrome type 2 (FS2) is a rare inherited disease characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
Homozygous familial hypercholesterolemia
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
46,XX testicular disorder of sex development
46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.
Homocystinuria due to cystathionine beta-synthase deficiency
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Multiple acyl-CoA dehydrogenation deficiency, mild type
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Methylene tetrahydrofolate reductase deficiency
Silver-Russell syndrome due to a point mutation
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
p110delta-activating mutation causing senescent T-cells, , lymphadenopathy and immunodeficiency
Chronic diarrhea with hereditary sensory and autonomic neuropathy
Macrocephaly-developmental delay syndrome
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Familial isolated prolactin receptor deficiency
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
COASY protein-associated neurodegeneration
Neurodegeneration with brain iron accumulation due to COASY mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Alpha-B crystallin-related late-onset distal myopathy
KLHL9-related childhood-onset distal myopathy
Finnish upper limb-onset distal myopathy
Nebulin-related early-onset distal myopathy
Rare hereditary disease with avascular necrosis
Rare male infertility due to testicular endocrine disorder
Male infertility due to gonadal dysgenesis or sperm disorder
Male infertility due to testicular dysgenesis or sperm disorder
Male infertility with spermatogenesis disorder
Male infertility with spermatogenesis disorder due to single gene mutation
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation
Male infertility due to sperm motility disorder
Male infertility due to asthenozoospermia
Rare female infertility due to a congenital hypogonadotropic hypogonadism
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Female infertility due to gonadal dysgenesis
Female infertility due to ovarian dysgenesis
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Rare male infertility due to gonadotropic axis disorder of genetic origin
Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
Rare male infertility due to adrenal disorder of genetic origin
Male infertility due to obstructive azoospermia of genetic origin
Male infertility due to impaired sperm transport of genetic origin
Rare genetic disorder with obstructive azoospermia
Rare genetic disorder due to impaired sperm transport
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Rare female infertility due to gonadotropic axis disorder of genetic origin
Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
Rare female infertility due to adrenal disorder of genetic origin
Rare female infertility due to an anomaly of ovarian function of genetic origin
Female infertility due to an implantation defect of genetic origin
Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.
Familial benign hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
Glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations depending on the age of onset and varying from life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).
Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.
Hyperornithinemia - gyrate atrophy of choroid and retina
Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence.
Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia.
Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms).
Neonatal severe primary hyperparathyroidism
3.5 mM) from birth and associated with major hyperparathyroidism.
Bietti crystalline corneoretinal dystrophy
Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.
Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.
Medium chain acyl-CoA dehydrogenase deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
Idiopathic and/or familial pulmonary arterial hypertension
Familial hyperthyroidism due to mutations in TSH receptor
Resistance to thyroid stimulating hormone
Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
Periodic Fever with Aphthous stomatitis, Pharyngitis and cervical Adenitis (PFAPA) syndrome, is a pediatric disease characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Myopathy with exercise intolerance, Swedish type
Normosmic congenital hypogonadotropic hypogonadism
Isolated congenital gonadotropin deficiency
normosmic idiopathic hypogonadotropic hypogonadism
Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.
Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).
Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.
Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.
Adenosine monophosphate deaminase deficiency
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies
X-linked lissencephaly with ambiguous genitalia
Congenital fibrosis of extraocular muscles
Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes.
Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.
Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.
Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).
Congenital plasminogen activator inhibitor type 1 deficiency
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Non-acquired combined pituitary hormone deficiency
Congenital combined pituitary hormone deficiency
Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate.
Hereditary fructose-1-phosphate aldolase deficiency
X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.
Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria triggered by exposure to cold associated with low-grade fever, and arthralgia.
Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
Asphyxiating thoracic dystrophy of the newborn
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.
Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness
Congenital hypogonadotropic hypogonadism with anosmia
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.
Congenital high-molecular-weight kininogen deficiency
Congenital cataracts - facial dysmorphism - neuropathy
Autosomal dominant severe congenital neutropenia
Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.
Dentinogenesis imperfecta without osteogenesis imperfecta
Opalescent teeth without osteogenesis imperfecta
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Transgrediens et progrediens palmoplantar keratoderma
Keratosis extremitatum hereditaria progrediens
Keratosis palmoplantaris transgrediens et progrediens
Progressive diffuse palmoplantar keratoderma
Thiamine-responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
Corpus callosum agenesis of with chorioretinal abnormality
Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.
Graham Little-Piccardi-Lassueur syndrome
Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.
Infantile subacute necrotizing encephalopathy
Lipodystrophy - intellectual disability - deafness
Zellweger-like syndrome without peroxisomal anomalies
Keratosis palmoplantaris striata et areata
Keratosis palmoplantaris varians of Wachters
Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis
Palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis
Palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis
Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Hypoxanthine guanine phosphoribosyltransferase complete deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
Torsade-de-pointes syndrome with short coupling interval
Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in young adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.
Branched-chain 2-ketoacid dehydrogenase deficiency
Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms).
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency
Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency primarily characterized by neutropenia, myelokathexis, and hypogammaglobulinemia associated with a susceptibility to human papillomavirus induced lesions (HPV, cutaneous warts, genital dysplasia and invasive mucosal carcinoma) and increased risk for bacterial infections
Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.
Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency
Craniosynostosis - intracranial calcifications
Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner.
Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
Ulnar/fibula ray defect - brachydactyly is a very rare malformation syndrome with bracydactyly and combined reduction of upper and lower limbs and is characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.
Premature chromosome condensation with microcephaly and intellectual disability
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
Deafness - dystonia - optic neuronopathy syndrome
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.
Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Limb-girdle muscular dystrophy with Paget disease of bone
X-linked creatine transporter deficiency
X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date.
X-linked intellectual disability - seizures - short stature - midface hypoplasia
Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.
Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.
Berardinelli-Seip congenital lipodystrophy
Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation with no reports since 1984 and characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body, i.e. the forearms, trunk, and upper thighs, which are generally painless and can be easily removed by local anesthesia, providing they are not too numerous or confluent.
Isolated follicle stimulating hormone deficiency
Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and sometimes neurological complications.
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction.
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.
GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
Lethal arthrogryposis - anterior horn cell disease
Cerebrofacial arteriovenous metameric syndrome type 2
Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term).
X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
Familial hemophagocytic lymphohistiocytosis
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.
Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.
Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.
Primary membranoproliferative glomerulonephritis
Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes.
Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms).
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Myoclonus epilepsy associated with ragged-red fibers
MODY syndrome (Maturity Onset Diabetes of the Young) is a rare, familial, clinically and genetically heterogeneous form of young age-onset diabetes characterized by often mild diabetes, lack of pancreatic beta-cell autoimmunity, absence of obesity, and extra-pancreatic manifestations in some patients.
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages.
Autosomal dominant limb-girdle muscular dystrophy type 1G
Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation.
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
Adamantinomas are slow growing malignant bone tumours.
Accelerated skeletal maturation - peculiar facies - failure to thrive
Gonadotropin-independent female-limited sexual precocity
Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Familial or sporadic hemiplegic migraine
Glycogen storage disease due to aldolase A deficiency
Glycogenosis due to aldolase A deficiency
Immunodeficiency by defective expression of HLA class 2
HLA class 2-negative severe combined immunodeficiency
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.
Muckle-Wells syndrome (MWS) is an intermediate formof cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever, recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation and potentially life-threatening secondary amyloidosis (AA type).
Mucolipidosis II (MLII) is a slowly progressive lysosomal storage disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly and that is lethal in childhood.
N-acetyl-glucosamine 1-phosphotransferase deficiency
Mucolipidosis type 3 alpha/beta (ML3 alpha/beta) is a lysosomal storage disorder characterized by a progressive slowing of the growth rate in late infancy, stiffness and pain in all large and small joints, gradual coarsening of facial features (full cheeks, depressed nasal bridge, and prominent mouth) and mild or moderate developmental delay. The manifestations of ML3 alpha/beta are similar but milder than those seen in mucolipidosis type II (ML 2; see this term).
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.
Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.
Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.
N-acetylgalactosamine 4-sulfatase deficiency
Multiple keratoacanthoma, Muir-Torre type
Santavuori congenital muscular dystrophy
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability - hypotonia
Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Ichthyosis - hypotrichosis - sclerosing cholangitis
Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms).
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.
Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Distal myopathy with vocal cord weakness
Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.
5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability). or associated with other pathologies
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
Megalencephaly-capillary malformation-polymicrogyria syndrome
Macrocephaly - cutis marmorata telangiectatica congenita
Macrocephaly-capillary malformation syndrome
Megalencephaly - cutis marmorata telangiectatica congenita
Megalencephaly-capillary malformation syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
Hereditary inclusion body myopathy type 2
Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later.
Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. TMD is caused by mutations in the titin gene. The inheritance is usually autosomal dominant but recessive forms have been identified recently.
Lysosomal alpha-D-mannosidase deficiency
Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms).
Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy.
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Homocystinuria without methylmalonic aciduria
Functional methionine synthase deficiency
A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.
Short stature due to growth hormone qualitative anomaly
Non-acquired isolated growth hormone deficiency
Congenital isolated growth hormone deficiency
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.
Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.
Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease.
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.
Short stature due to growth hormone resistance
Angel-shaped phalango-epiphyseal dysplasia
Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Patterned dystrophy of the retinal pigment epithelium
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.
Hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.
Hereditary sensory and autonomic neuropathy type 4
Neurogenic muscle weakness - ataxia - retinitis pigmentosa
Neuropathy - ataxia - retinitis pigmentosa
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
Acrofacial dysostosis, Kennedy-Teebi type
Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.
Immunodeficiency - microcephaly - chromosomal instability
Microcephaly - immunodeficiency - lymphoreticuloma
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandlers syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications
Autosomal dominant Charcot-Marie-Tooth disease type 2
Autosomal dominant axonal Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy type 2
Hereditary motor and sensory neuropathy type 3
Autosomal recessive demyelinating Charcot-Marie-Tooth
Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
Hereditary motor and sensory neuropathy type 5
Charcot-Marie-Tooth disease - pyramidal features
Hereditary sensory and autonomic neuropathy type 5
Congenital insensitivity to pain and thermal analgesia
Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.
Spinocerebellar ataxia with axonal neuropathy type 2
Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level.
Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual deficit and/or behavioral disorders.
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life.
LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
Lecithin-cholesterol acyltransferase deficiency
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Biotin-thiamine-responsive basal ganglia disease
Dysplastic gangliocytoma of the cerebellum
3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.
Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT).
Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
Autosomal recessive medullary cystic kidney disease
Familial idiopathic steroid-resistant nephrotic syndrome
Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).
Persistent hyperinsulinemic hypoglycemia of infancy
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.
Autosomal dominant multiple pterygium syndrome
Multiple keratoacanthoma, Ferguson-Smith type
Multiple self-healing squamous epithelioma
Self-healing squamous epithelioma type 1
Autosomal dominant demyelinating Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy type 1
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Palmoplantar and periorificial keratoderma
Central congenital hypoventilation syndrome
Congenital central alveolar hypoventilation syndrome
Maternally-inherited progressive external ophthalmoplegia
An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.
Maternally-inherited chronic progressive external ophthalmoplegia
Ornithine carbamoyltransferase deficiency
Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders.
Short fifth metacarpals - insulin resistance
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
Obesity due to congenital leptin deficiency
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Sensorineural hearing loss - early graying - essential tremor
Autosomal recessive malignant osteopetrosis
Autosomal dominant optic atrophy and cataract
Autosomal dominant late-onset retinal degeneration
Thrombocytopenia with congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia with thombocytopenia
Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.
X-linked congenital dyserythropoietic anemia with thrombocytopenia
X-linked intellectual disability with isolated growth hormone deficiency
3-methylglutaconyl-CoA hydratase deficiency
Autosomal recessive optic atrophy type 3
Infantile optic atrophy with chorea and spastic paraplegia
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.
Keratosis palmoplantar - periodontopathy
Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.
Familial hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Rare bleeding disorder due to a constitutional coagulation factors defect
Rare coagulopathy due to a constitutional coagulation factors defect
Odonto-tricho-ungual-digito-palmar syndrome
Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
Ectodermal dysplasia with natal teeth, Turnpenny type
Naegeli-Franceschetti-Jadassohn syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Pyogenic arthritis - pyoderma gangrenosum - acne
Low phospholipid associated cholelithiasis
ABCB4 gene mutation-associated cholelithiasis
Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
Hypotrichosis - lymphedema - telangiectasia
Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
Athabaskan brainstem dysgenesis syndrome
Athabascan brainstem dysgenesis syndrome
Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.
Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
Cardiomyopathy with myopathy due to COX deficiency
Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Autosomal recessive sepiapterin reductase-deficient DRD
Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.
Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations.
Glycogen storage disease due to phosphoglucomutase deficiency
GSD due to phosphoglucomutase deficiency
Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise.
Glycogenosis due to phosphoglucomutase deficiency
Hemolytic anemia due to glucophosphate isomerase deficiency
Rare hemorrhagic disorder due to a constitutional platelet anomaly
Rare bleeding disorder due to a constitutional platelet anomaly
Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia
Rare coagulopathy due to a constitutional platelet anomaly
Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.
Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.
Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
Congenital brain dysgenesis due to glutamine synthetase deficiency
Inherited glutamine synthetase deficiency
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial platelet disorder with associated myeloid malignancy
Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms.
Hereditary vascular retinopathy - Raynaud phenomenon - migraine
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
GSD due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.
Glycogen storage disease due to muscle phosphorylase kinase deficiency
GSD due to muscle phosphorylase kinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.
Glycogenosis due to muscle phosphorylase kinase deficiency
Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
Benign paroxysmal torticollis of infancy
Obesity due to pro-opiomelanocortin deficiency
Obesity due to prohormone convertase I deficiency
Obesity due to melanocortin 4 receptor deficiency
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
Continuous spikes and waves during sleep
Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.
Continuous spikes and waves during slow-wave sleep
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Alpers progressive sclerosing poliodystrophy
Progressive neuronal degeneration of childhood with liver disease
Autosomal recessive polycystic kidney disease
X-linked intellectual disability - hypotonic face
Global developmental delay - osteopenia - ectodermal defect
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Ossification anomalies - psychomotor development delay
Spinal muscular atrophy - Dandy-Walker malformation - cataracts
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Bleeding diathesis due to a collagen receptor defect
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay - deafness- intellectual disability
Primary insulin-like growth factor deficiency
Growth delay due to insulin-like growth factor I resistance
Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.
Porokeratosis plantaris palmaris et disseminata
Palmar, plantar and disseminated porokeratosis
Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.
Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
Hereditary thrombophilia due to congenital protein S deficiency
Partial gigantism - nevi - hemihypertrophy - macrocephaly
Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
Hereditary thrombophilia due to congenital protein C deficiency
Hereditary thrombophilia due to PC deficiency
Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum of disease ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.
Mendelian susceptibility to mycobacterial diseases
Idiopathic infection caused by BCG or atypical mycobacteria
Mendelian susceptibility to atypical mycobacteria
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.
Mendelian susceptibility to mycobacterial infections
Pseudoachondroplastic spondyloepiphyseal dysplasia
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
Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
Osteosclerosis - ichthyosis - premature ovarian failure
Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure
Retinal hemorrhage with vascular tortuosity
Central areolar pigment epithelial dystrophy
Central retinal pigment epithelial dystrophy
North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.
North Carolina macular dystrophy, retinal 1
Progressive bifocal chorioretinal atrophy
Prolonged electroretinal response suppression
Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.
Autosomal dominant cystoid macular edema
Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.
Congenital stationary night blindness, Oguchi type
Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.
Brain malformation - congenital heart disease - postaxial polydactyly
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Ehlers-Danlos syndrome, periodontitis type
Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms).
Defective biosynthesis of proteodermatan sulfate
Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
Xylosylprotein 4-beta-galactosyltransferase deficiency
46,XY DSD due to LH resistance or LHB deficiency
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
46,XY disorder of sex development due to LH resistance or LHB deficiency
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Male pseudohermaphrodism due to LH resistance or LHB deficiency
Male pseudohermaphrodism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Ehlers-Danlos syndrome, fibronectinemic type
Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
Ehlers-Danlos syndrome, fibronectin-deficient
Phlebectatic osteohypoplastic angiodysplasia
X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.
Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.
Gordon hyperkalemia-hypertension syndrome
Hyperkaliemia - hypertension, Gordon type
Mineralocorticoid resistant hyperkalemia
Congenital muscular dystrophy, Ullrich type
Intellectual disability - truncal obesity - retinal dystrophy - micropenis
Mental retardation - truncal obesity - retinal dystrophy - micropenis
Purine nucleoside phosphorylase deficiency
Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor).
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.
Pyruvate kinase deficiency of erythrocytes
Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms).
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).
Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset.
Trichorhinophalangeal syndrome type 1 and 3
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
Cerebral juvenile and adult form of Gaucher disease
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).
Gaucher disease, subacute neuronopathic type
Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis
Anophthalmia/microphthalmia - esophageal atresia
Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
Hereditary motor and sensory neuropathy type 4
Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Not NOTCH3-related small vessel disease of the brain
Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
Intellectual disability, X-linked, Martinez type
X-linked intellectual disability with marfanoid habitus
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
X-linked mental retardation with marfanoid habitus
X-linked non-syndromic intellectual disability
X-linked non-specific intellectual disability
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.
Glucocorticoid resistance is a rare genetic endocrine condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess.
Congenital alpha2 antiplasmin deficiency
Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms).
Lethal variant of Simpson-Golabi-Behmel syndrome
Disorder of amino acid and other organic acid metabolism
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy, Köbberling type
Familial partial lipodystrophy due to AKT2 mutations
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Hereditary inclusion body myopathy type 3
Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly
Congenital bile acid synthesis defect type 4
Alpha-methyl-acyl-CoA racemase deficiency
Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
Pyridoxamine 5'-phosphate oxidase deficiency
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
Developmental malformations - deafness - dystonia
Mandibulofacial dysostosis-microcephaly syndrome
Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate
Mandibulofacial dysostosis, Guion-Almeida type
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Hepatic veno-occlusive disease - immunodeficiency
Trichodysplasia - amelogenesis imperfecta
Sparse hair - short stature - skin anomalies
Focal facial dermal dysplasia 1, Brauer type
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.
Developmental delay - epilepsy - neonatal diabetes
Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.
Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.
Generalized epilepsy - paroxysmal dyskinesia
Congenital onychodysplasia of the index fingers
Familial reactive perforating collagenosis
Linear and whorled nevoid hypermelanosis
Disseminated superficial actinic porokeratosis
Encephalopathy due to hydroxykynureninuria
Seizures - intellectual disability due to hydroxylysinuria
2-methylbutyryl-CoA dehydrogenase deficiency
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
Short/branched-chain acyl-coA dehydrogenase deficiency
Disorder of amino acid absorption and transport
Disorder of urea cycle metabolism and ammonia detoxification
Disorder of neurotransmitter metabolism and transport
Disorder of cobalamin metabolism and transport
Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms).
Disorder of methionine cycle and sulfur amino acid metabolism
Cytosolic methyl group transfer or sulfur amino acid metabolism disorder
Disorder of fatty acid oxidation and ketone body metabolism
Disorder of gamma-aminobutyric acid metabolism
Disorder of ornithine or proline metabolism
Disorder of pentose phosphate metabolism
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).
Disorder of phenylalanin or tyrosine metabolism
Disorder of serine or glycine metabolism
Disorder of branched-chain amino acid metabolism
X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
Disorder of lysosomal amino acid transport
Disorder of biogenic amine metabolism and transport
Metabolic disease involving other neurotransmitter deficiency
Disorder of purine or pyrimidine metabolism
Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).
Hereditary unconjugated hyperbilirubinemia type 1
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
Hereditary unconjugated hyperbilirubinemia type 2
Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms).
Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.
Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism.
Uridine diphosphate galactose-4-epimerase deficiency
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Galactose-1-phosphate uridyltransferase deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
GSD due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term).
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
Early-onset multiple carboxylase deficiency
Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.
Neonatal multiple carboxylase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
Pyruvate dehydrogenase complex component E2 deficiency
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.
Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.
Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.
GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.
GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Glycogen storage disease due to G6P deficiency type a
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).
Glycogenosis due to glucose-6-phosphatase deficiency type a
Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Glycogen storage disease due to G6P deficiency type b
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
Glycogenosis due to glucose-6-phosphatase deficiency type b
Glycogenosis due to glucose-6-phosphatase transport defect
Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.
Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.
Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.
N-acetyl-alpha-glucosaminidase deficiency
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
Glucosamine N-acetyl-6-sulfatase deficiency
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.
Alpha-N-acetylgalactosaminidase deficiency type 2
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.
Alpha-N-acetylgalactosaminidase deficiency type 3
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.
Methylmalonic acidemia with homocystinuria, type cblC
type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
Methylmalonic acidemia with homocystinuria, type cblD
type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
Methylmalonic aciduria with homocystinuria, type cblD
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
Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
Diazoxide-resistant focal hyperinsulinism
Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinemic hypoglycemia due to glucokinase deficiency
Congenital bile acid synthesis defect type 1
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption.
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.
Oxysterol 7-alpha-hydroxylase deficiency
Congenital bile acid synthesis defect type 2
Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 1
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic aciduria type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-responsive methylmalonic aciduria, type cblB
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Vitamin B12-unresponsive methylmalonic aciduria type mut-
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
Phosphoenolpyruvate carboxykinase 1 deficiency
Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found.
Phosphoenolpyruvate carboxykinase 2 deficiency
Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema.
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood.
Congenital disorder of glycosylation type Ia
Carbohydrate deficient glycoprotein syndrome type Ib
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ib
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Carbohydrate deficient glycoprotein syndrome type Id
Congenital disorder of glycosylation type 1d
Congenital disorder of glycosylation type Id
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
Carbohydrate deficient glycoprotein syndrome Ig
Carbohydrate deficient glycoprotein syndrome Ih
Carbohydrate deficient glycoprotein syndrome Ii
Carbohydrate deficient glycoprotein syndrome type Ik
Congenital disorder of glycosylation type 1k
Congenital disorder of glycosylation type Ik
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type IL
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Beta-1,4-galactosyltransferase deficiency
Carbohydrate deficient glycoprotein syndrome type IId
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type IId
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe
Autosomal dominant chondrodysplasia punctata
Chondrodysplasia punctata, Sheffield type
Brachytelephalangic chondrodysplasia punctata
Chondrodysplasia punctata, tibial-metacarpal type
Chondrodysplasia punctata, Toriello type
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).
3-phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
Mucopolysaccharidosis with skin involvement
Congenital non-bullous ichthyosiform erythroderma
Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
Non-bullous congenital ichthyosiform erythroderma
Keratoderma hereditarium mutilans with ichthyosis
Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
Epidermolysis bullosa simplex, herpetiformis
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.
Generalized junctional epidermolysis bullosa, non-Herlitz type
Generalized atrophic benign epidermolysis bullosa
Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
Junctional epidermolysis bullosa - pyloric atresia
Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz-Pearson type
Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
Junctional epidermolysis bullosa inversa
Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.
Late-onset junctional epidermolysis bullosa
Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.
Severe generalized recessive dystrophic epidermolysis bullosa
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Recessive dystrophic epidermolysis bullosa inversa
Dystrophic epidermolysis bullosa inversa
Inverse recessive dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.
Pretibial dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.
Transient bullous dermolysis of the newborn
Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
Tyrosinase-negative oculocutaneous albinism
Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.
Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.
Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
Albright hereditary osteodystrophy - PHP Ia
Albright hereditary osteodystrophy - PPHP
X-linked lethal multiple pterygium syndrome
Non hereditary congenital primary lymphedema
Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.
Follicular atrophoderma-basal cell carcinoma
mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
Hypopigmentation - neurologic impairment
Hypopigmentation - immunodeficiency with or without neurologic impairment
Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.
X-linked congenital generalized hypertrichosis
Congenital generalized hypertrichosis, Macias-Flores type
Macias Flores-Garcia Cruz-Rivera syndrome
X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
Deafness - onychodystrophy, autosomal dominant
Autosomal dominant deafness-onychodystrophy (DDOD) syndrome is a very rare condition characterized by congenital hearing impairment, absent or hypoplastic nails on the hands and feet and brachydactyly.
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive deafness-onychodystrophy (also known as DOOR for Deafness, Onychodystrophy, Osteodystrophy, Retardation) syndrome is characterized by sensorineural hearing loss, distinctive nail abnormalities and bone malformations, and mild to profound intellectual deficiency.
Deafness - onycho-osteodystrophy - intellectual disability
Deafness - onychodystrophy - osteodystrophy - intellectual disability
Punctate palmoplantar keratoderma type 1
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
Punctate palmoplantar keratoderma type 2
Punctate palmoplantar hyperkeratosis type 2
Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).
Cholesterol-ester transfer protein deficiency
Hypotonia - failure to thrive - microcephaly
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.
Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Fatty acid alcohol oxidoreductase deficiency
Familial continuous skin peeling syndrome
Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.
7-dehydrocholesterol reductase deficiency
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Ehlers-Danlos syndrome with periventricular heterotopia
Stargardt disease (STGD) is a rare hereditary early-onset form of macular dystrophy that is characterized by progressive central vision loss but intact peripheral vision, mild loss of color vision, delayed dark adaptation, and macular atrophy with or without paramacular flecks and degeneration of the underlying retinal pigment epithelium (RPE).
Hereditary progressive arthroophthalmopathy
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Succinyl-CoA acetoacetate transferase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Encephalopathy due to sulfite oxidase deficiency
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
Chronic infantile spinal muscular atrophy
Cerebellar ataxia - intellectual disability - optic atrophy - skin abnormalities
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Macrostomia - preauricular tags - external ophthalmoplegia
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus
Leukoencephalopathy - metaphyseal chondrodysplasia
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Microcytic anemia with liver iron overload
X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
Congenital nephrotic syndrome, Finnish type
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual disability
Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.
Glomerulopathy with fibronectin deposits
Desmin-related myopathy with Mallory body-like inclusions
Sporadic idiopathic steroid-resistant nephrotic syndrome
Atrial tachyarrhythmia with short PR interval
Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
Alpha-thalassemia - X-linked intellectual disability syndrome
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.
Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).
Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
Familial encephalopathy with neuroserpin inclusion bodies
Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Palmoplantar hyperkeratosis - XX sex reversal - predisposition to squamous cell carcinoma
Cystic leukoencephalopathy without megalencephaly
Facial onset sensory and motor neuronopathy
Camptodactyly - tall stature - scoliosis - hearing loss
Severe achondroplasia - developmental delay - acanthosis nigricans
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type
Spondylometaphyseal dysplasia - cone-rod dystrophy
Familial digital arthropathy-brachydactyly
Mesomelic dysplasia with absent fibulas and triangular tibias
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies
Infantile osteopetrosis with neuroaxonal dysplasia
Diaphyseal medullary stenosis - bone malignancy
Diaphyseal medullary stenosis - malignant fibrous histiocytoma
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).
Craniometadiaphyseal dysplasia, wormian bone type
Endosteal sclerosis - cerebellar hypoplasia
Metaphyseal dysplasia, Braun-Tinschert type
Calvarial doughnut lesions - bone fragility
Hereditary expansile polyostotic osteolytic dysplasia
Nodulosis-arthropathy-osteolysis syndrome
Multicentric osteolysis - nodulosis - arthropathy
Craniosynostosis - anal anomalies - porokeratosis
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
X-linked thrombocytopenia with normal platelets
Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.
Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual disability
Pulmonic stenosis - brachytelephalangism - calcification of cartilages
Syndactyly - preaxial polydactyly - sternal deformity
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).
Intellectual disability, X-linked, Abidi type
Syndromic X-linked intellectual disability 7
X-linked intellectual disability, Ahmad type
Microphthalmia - ankyloblepharon - intellectual disability
Intellectual disability, X-linked, Armfield type
Intellectual disability, X-linked, Cantagrel type
Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.
X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy
X-linked intellectual disability, South African type
Syndromic X-linked intellectual disability due to JARID1C mutation
Intellectual disability, X-linked - cubitus valgus - dysmorphism
X-linked intellectual disability - epileptic seizures - hypogenitalism - microcephaly - obesity
Intellectual disability, X-linked, Miles-Carpenter type
Intellectual disability, X-linked, Schimke type
Intellectual disability, X-linked, Shashi type
Syndromic X-linked intellectual disability type 11
Intellectual disability, X-linked, Siderius type
Intellectual disability, X-linked, Stocco Dos Santos type
Intellectual disability, X-linked, Vitale type
Intellectual disability, X-linked, Wilson type
Intellectual disability, X-linked, Wittwer type
X-linked intellectual disability, Cabezas type
X-linked epilepsy - learning disabilities - behavior disorders
Syndromic X-linked intellectual disability type 10
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
Intellectual disability, X-linked - hypogammaglobulinemia - progressive neurological deterioration
Intellectual disability, X-linked - precocious puberty - obesity
Intellectual disability, X-linked - epilepsy - progressive joint contractures - dysmorphism
Intellectual disability, X-linked - macrocephaly - macro-orchidism
Deafness - intellectual disability, Martin-Probst type
X-linked deafness - intellectual disability syndrome
Intellectual disability, X-linked, Pai type
Intellectual disability, X-linked, Seemanova type
Intellectual disability, X-linked, Shrimpton type
Intellectual disability, X-linked, Stevenson type
Intellectual disability, X-linked, Stoll type
Intellectual disability, X-linked - acromegaly - hyperactivity
Intellectual disability, X-linked, Turner type
Intellectual disability, X-linked - hypotonia - facial dysmorphism - aggressive behavior
Intellectual disability, X-linked - corpus callosum agenesis - spastic quadriparesis
Intellectual disability, X-linked - hypogonadism - ichthyosis - obesity - short stature
X-linked intellectual disability-retinitis pigmentosa syndrome
Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)
Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
Intellectual disability, X-linked, Zorick type
X-linked intellectual disability - ataxia - apraxia
Short stature - pituitary and cerebellar defects - small sella turcica
Transthyretin-related familial amyloid cardiomyopathy
X-linked reticulate pigmentary disorder with systemic manifestations
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.
Hereditary cerebral hemorrhage with amyloidosis
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.
Imperforate anus with hand, foot and ear anomalies
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
Congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great vessels
Ventriculoarterial discordance with atrioventricular concordance
Mandibulofacial dysostosis without limb anomalies
Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, associated with several head and neck defects.
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Autosomal recessive limb-girdle muscular dystrophy type 2K
Limb-girdle muscular dystrophy - intellectual disability
Helicoid peripapillary chorioretinal degeneration
Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
Benign adult familial myoclonic epilepsy
Autosomal dominant cortical myoclonus and epilepsy
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
Benign adult familial myoclonus epilepsy
Familial cortical myoclonic tremor and epilepsy
Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
Congenital absence of lacrimal puncta and salivary glands
Hemolytic anemia due to adenylate kinase deficiency
Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
Familial avascular necrosis of femoral head
Familial osteonecrosis of the femoral head
Lissencephaly type 3 - familial fetal akinesia sequence
Lissencephaly type 3 - metacarpal bone dysplasia
Lissencephaly with cerebellar hypoplasia
Achalasia - addisonianism - alacrima syndrome
Adrenal insufficiency - achalasia - alacrima
Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
Hypothalamic hamartomas with gelastic seizures
Myoclonic epilepsy in non-progressive encephalopathies
Myoclonus epilepsy in non-progressive encephalopathies
Lymphedema - cerebral arteriovenous anomaly
Lymphedema - atrial septal defects - facial changes
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome
Keratosis palmaris et plantaris - clinodactyly
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe syndactyly.
Familial progressive cardiac conduction defect
Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.
Keratosis palmoplantaris transgrediens of Siemens
Transgrediens palmoplantar keratoderma of Siemens
Fumarylacetoacetate hydrolase deficiency
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.
Autosomal recessive non-syndromic intellectual disability
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Familial acute necrotizing encephalopathy
Recurrent acute necrotizing encephalopathy
Posterior column ataxia - retinitis pigmentosa
Autosomal recessive posterior column ataxia and retinitis pigmentosa
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.
Terminal osseous dysplasia - pigmentary defects
Familial ocular anterior segment mesenchymal dysgenesis
Myopathy due to calsequestrin and SERCA1 protein overload
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Channelopathy-associated congenital insensitivity to pain
Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Autosomal recessive cerebellar ataxia type 1
Autosomal dominant progressive nephropathy with hypertension
Early-onset hypertension with exacerbation in pregnancy
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
Cleft lip and/or palate with mucous cysts of lower lip
Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
Autosomal dominant medullary cystic kidney disease without hyperuricemia
Autosomal dominant medullary cystic kidney disease with hyperuricemia
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.
Wilms tumor - aniridia - genitourinary anomalies - intellectual disability
Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum
Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin
Waardenburg syndrome with limb anomalies
Dominant hyaloideoretinal dystrophy of Wagner
Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.
Autosomal recessive epidermolysis bullosa simplex
Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering.
Epidermolysis bullosa simplex superficialis
Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters.
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.
Centripetalis recessive dystrophic epidermolysis bullosa
Centripetal dystrophic epidermolysis bullosa
Centripetal recessive dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk.
Recessive dystrophic epidermolysis bullosa-generalized other
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, generalized other
Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.
Pruriginous dystrophic epidermolysis bullosa
Lissencephaly syndrome, Norman-Roberts type
Hydrocephalus - agyria - retinal dysplasia
Hydrocephalus-agyria-retinal dysplasia syndrome
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.
X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.
Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
Infantile Bartter syndrome with deafness
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
X-linked cone dysfunction syndrome with myopia
Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome with short stature
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
Microdontia - type I microtia - deafness
Hemolytic anemia due to glutathione reductase deficiency
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).
Congenital erythrocytosis due to erythropoietin receptor mutation
Congenital polycythemia due to erythropoietin receptor mutation
Primary familial and congenital polycythemia
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C
Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
Charcot-Marie-Tooth disease - deafness - intellectual disability
Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, proximal type
Severe early-onset axonal neuropathy due to MFN2 deficiency
Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
Axonal Charcot-Marie-Tooth disease with acrodystrophy
Hereditary motor and sensory neuropathy type 6
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Non-hereditary late-onset primary lymphedema
Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term).
Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.
von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms).
Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly.
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term).
Cutis laxa with joint laxity and developmental delay
Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness.
Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.
Hereditary hypotrichosis simplex of the scalp
Eczema-thrombocytopenia-immunodeficiency syndrome
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
X-linked non-syndromic 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 non-syndromic neurosensory deafness type DFN
X-linked non-syndromic neurosensory hearing loss type DFN
X-linked non-syndromic sensorineural hearing loss type DFN
Autosomal dominant non-syndromic 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 non-syndromic neurosensory deafness type DFNA
Autosomal dominant non-syndromic neurosensory hearing loss type DFNA
Autosomal dominant non-syndromic sensorineural hearing loss type DFNA
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Autosomal recessive isolated neurosensory deafness type DFNB
Autosomal recessive isolated sensorineural deafness type DFNB
Autosomal recessive non-syndromic neurosensory deafness type DFNB
Mitochondrial non-syndromic sensorineural deafness
Isolated mitochondrial neurosensory deafness
Isolated mitochondrial sensorineural deafness
Mitochondrial non-syndromic neurosensory deafness
Hypothyroidism due to TSH receptor mutations
Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
Isolated thyroid-stimulating hormone deficiency
Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
46,XX disorder of sex development induced by fetal androgens excess
46,XX DSD induced by fetal androgens excess
46,XY disorder of sex development due to testosterone synthesis defect
46,XY DSD due to due to testosterone synthesis defect
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
46,XY DSD due to adrenal and testicular steroidogenesis defect
46,XY disorder of sex development due to testicular steroidogenesis defect
46,XY DSD due to testicular steroidogenesis defect
Congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males.
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration during the neonatal period, life threatening hypoglycemia and hyperandrogenia.
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.
Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.
Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).
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
Combined immunodeficiency due to ZAP70 deficiency
Cardiomyopathy - hypotonia - lactic acidosis
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
Hypotrichosis-congenital ichthyosis syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.
Hereditary bradykinine-induced angioedema
Hereditary non histamine-induced angioedema
Familial thoracic aortic aneurysm and aortic dissection
Isolated ankyloblepharon filiforme adnatum
Congenital ptosis is characterized by superior eyelid drop present at birth.
Congenital Claude-Bernard-Horner syndrome
Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfelds anomaly (see this term).
Macular coloboma - cleft palate - hallux valgus
Persistent hyperplastic primary vitreous
Familial congenital palsy of trochlear nerve
Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
Hydrocephalus - cleft palate - joint contractures
Congenital familial intractable diarrhea with epithelial or epithelium abnormalities
Hyperammonemia due to N-acetylglutamate synthetase deficiency
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
Renal hypoplasia (RH) is a developmental anomaly in which one or both kidneys (unilateral or bilateral RH respectively (see these terms)) have a deficit in the number of nephrons and may be small.
Renal dysplasia (RD) is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. RD can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme RD
Renal cysts - maturity-onset diabetes of the young
Renal cysts and diabetes syndrome is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous renal disease (renal cysts, renal dysplasia, single kidney, renal tract malformations, hypoplastic glomerulocystic kidney disease, chromophobe renal cell carcinoma) and early-onset diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies in females or infertility in males have also been found.
Renal dysfunction - early-onset diabetes
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Charcot-Marie-Tooth disease - nephropathy
Hypocalcemic vitamin D-resistant rickets
Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.
Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.
Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.
Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms).
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
Pfeiffer syndrome type 1 (PS1) is an infrequent type of Pfeiffer syndrome (see this term) with mild to moderate severity and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development.
Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.
Pfeiffer syndrome type 3 (PS3) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically severe form of Crouzon syndrome (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans.
Cloverleaf skull - multiple congenital anomalies
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome, Verma-Naumoff type
Cloverleaf skull - micromelic bone dysplasia
Thanatophoric dwarfism - cloverleaf skull
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepiphyseal dysplasia, Kimberley type
Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities.
Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies.
Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities.
Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis.
Autosomal recessive multiple epiphyseal dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
Spondylometaphyseal dysplasia, Sedaghatian type
Congenital longitudinal deficiency of the ulna
Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.
Congenital longitudinal deficiency of the radius
Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.
Congenital aplasia and dysplasia of the tibia with intact fibula
Congenital longitudinal deficiency of the tibia
Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
Congenital longitudinal deficiency of the fibula
Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.
Autosomal recessive Kenny-Caffey syndrome
Autosomal dominant Kenny-Caffey syndrome
Micromelic dysplasia - dislocation of radius
Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).
Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.
Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepimetaphyseal dysplasia, Menger type
Spondyloepimetaphyseal dysplasia, anauxetic type
X-linked spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Irapa type
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
Spondyloepimetaphyseal dysplasia, Sponastrime type
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with joint laxity type 1
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Familial hypocalciuric hypercalcemia type 1
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
Postaxial syndactyly with metacarpal synostosis
Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
Short-rib dysplasia (with or without polydactyly)
Multiple epiphyseal dysplasia and pseudoachondroplasia
Primary bone dysplasia with multiple joint dislocations
Primary osteodysplasia with multiple joint dislocations
Primary skeletal dysplasia with multiple joint dislocations
Primary bone dysplasia with increased bone density
Primary osteodysplasia with increased bone density
Primary skeletal dysplasia with increased bone density
Primary bone dysplasia with decreased bone density
Primary osteodysplasia with decreased bone density
Primary skeletal dysplasia with decreased bone density
Primary bone dysplasia with defective bone mineralization
Primary osteodysplasia with defective bone mineralization
Primary skeletal dysplasia with defective bone mineralization
Lysosomal storage disease with skeletal involvement
Primary bone dysplasia with disorganized development of skeletal components
Primary osteodysplasia with disorganized development of skeletal components
Primary skeletal dysplasia with disorganized development of skeletal components
Cleidocranial dysplasia and isolated cranial ossification defect
Dysostosis with predominant craniofacial involvement
Dysostosis with predominant vertebral and costal involvement
Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Syndrome with synostosis or other joint formation defect
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
Short-limb skeletal dysplasia with severe combined immunodeficiency
Achondroplasia - Swiss-type agammaglobulinemia
Achondroplasia - severe combined immunodeficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
Syndromic renal or urinary tract malformation
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
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
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
Membranoproliferative glomerulonephritis type 2
Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term).
Atypical hemolytic-uremic syndrome with C3 anomaly
Hemolytic-uremic syndrome without diarrhea with C3 anomaly
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly
Atypical hemolytic-uremic syndrome with B factor anomaly
Hemolytic-uremic syndrome without diarrhea with B factor anomaly
Atypical hemolytic-uremic syndrome with H factor anomaly
Hemolytic-uremic syndrome without diarrhea with H factor anomaly
Atypical hemolytic-uremic syndrome with I factor anomaly
Hemolytic-uremic syndrome without diarrhea with I factor anomaly
Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Atypical HUS with anti-factor H antibodies
Hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies
Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
Late-onset autosomal recessive medullary cystic kidney disease
Infantile autosomal recessive medullary cystic kidney disease
Juvenile autosomal recessive medullary cystic kidney disease
Nephropathy secondary to a storage or other metabolic disease
Peroxisomal alanine-glyoxylate aminotransferase deficiency
Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.
Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.
Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Nephrogenic syndrome of inappropriate antidiuresis
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.
Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
Autosomal dominant distal renal tubular acidosis
Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.
Autosomal recessive distal renal tubular acidosis without deafness
Distal renal tubular acidosis with anemia
Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia.
Autosomal recessive distal renal tubular acidosis with deafness
Hematological disorder with renal involvement
Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia.
Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations.
Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features.
Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.
Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.
Midline interhemispheric variant of holoprosencephaly
Middle interhemispheric variant of holoprosencephaly
Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.
Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.
Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.
Omphalocele - cloacal exstrophy - imperforate anus - spinal defect
Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.
X-linked intellectual disability, Porteous type
Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).
X-linked intellectual disability, Golabi-Ito-Hall type
Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).
X-linked intellectual disability, Sutherland-Haan type
X-linked dominant intellectual disability - epilepsy
X-linked intellectual disability, Hedera type
Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will.
Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability.
Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia.
Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.
Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions.
Autosomal dominant spasmodic torticollis
Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis.
Autosomal dominant focal dystonia, DYT7 type
Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms).
Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.
Macrocephaly - immune deficiency - anemia
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Osteopoikilosis - short stature - intellectual disability
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
X-linked intellectual disability - dystonia - dysarthria
Familial hypercalcemia - nephrocalcinosis - indicanuria
Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).
Spondylocostal dysostosis - anal and genitourinary malformations
Spinocerebellar ataxia type 1 with axonal neuropathy
Autosomal dominant cerebellar ataxia type 1
Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.
Autosomal dominant cerebellar ataxia type I
Autosomal dominant spinocerebellar ataxia type 7
Cerebellar syndrome - pigmentary maculopathy
Autosomal dominant cerebellar ataxia type 3
Autosomal dominant cerebellar ataxia type III
Pure cerebellar syndrome - mild pyramidal signs
Autosomal dominant cerebellar ataxia type 4
Autosomal dominant cerebellar ataxia type IV
Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbingof the fingers or toes, often with other associated manifestations.
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.
Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms).
Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.
Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).
Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence.
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing and crying, usually presenting in infancy, and characterized by stridor and noisy breathing or with upper respiratory infections that improves by the age of 18-24 months.
Autosomal recessive cerebellar ataxia - blindness - deafness
Autosomal recessive cerebellar ataxia - saccadic intrusion
Non-acquired pituitary hormone deficiency
Combined pituitary hormone deficiencies, genetic forms
Multiple pituitary hormone deficiencies, genetic forms
Disease associated with non-acquired combined pituitary hormone deficiency
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.
Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.
Acroosteolysis with osteoporosis and changes in skull and mandible
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.
Congenital adrenal hyperplasia due to cytochrome POR deficiency
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Familial adrenal hypoplasia with absent pituitary LH
Familial adrenal hypoplasia, miniature type
Cytomegalic congenital adrenal hypoplasia
Congenital hypothyroidism due to developmental anomaly
Primary congenital hypothyroidism due to developmental anomaly
Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Primary congenital hypothyroidism without thyroid developmental anomaly
Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Split hand/split foot - mandibular hypoplasia
Ataxia with isolated vitamin E deficiency
Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
Beckwith-Wiedemann syndrome due to 11p15 microduplication
8p inverted duplication/deletion syndrome
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
Inverted 8p duplication/deletion syndrome
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to 9q subtelomeric deletion
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities.
Maternal uniparental disomy of chromosome 2
Maternal uniparental disomy of chromosome 4
Maternal uniparental disomy of chromosome 6
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Maternal uniparental disomy of chromosome 9
Maternal uniparental disomy of chromosome 14
Maternal uniparental disomy of chromosome 16
Maternal uniparental disomy of chromosome 20
Maternal uniparental disomy of chromosome 21
Maternal uniparental disomy of chromosome 22
Paternal uniparental disomy of chromosome 5
Paternal uniparental disomy of chromosome 6
Paternal uniparental disomy of chromosome 7
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Mosaic paternal uniparental disomy of chromosome 11
Paternal uniparental disomy of chromosome 20
Paternal uniparental disomy of chromosome 21
The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.
The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.
Leydig cell hypoplasia due to complete LH resistance
46,XY DSD due to complete LH receptor inactivation
46,XY DSD due to complete luteinizing hormone receptor inactivation
46,XY DSD due to complete luteinizing hormone resistance
46,XY disorder of sex development due to complete LH receptor inactivation
46,XY disorder of sex development due to complete LH resistance
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete luteinizing hormone resistance
Leydig cel hypoplasia due to complete LH receptor inactivation
Leydig cel hypoplasia due to complete luteinizing hormone receptor inactivation
Leydig cel hypoplasia due to complete luteinizing hormone resistance
Leydig cell hypoplasia due to partial LH resistance
46,XY DSD due to partial LH receptor inactivation
46,XY DSD due to partial luteinizing hormone resistance
46,XY disorder of sex developement due to partial LH receptor inactivation
46,XY disorder of sex developement due to partial LH resistance
46,XY disorder of sex developement due to partial luteinizing hormone resistance
Leydig cell hypoplasia due to partial LH receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone resistance
Rare otorhinolaryngological malformation
Paternal uniparental disomy of chromosome 14
Hypertrichosis-acromegaloid facial appearence syndrome
Acromesomelic dysplasia, Hunter-Thomson type
Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
The acro-renal syndrome is defined by the association of limb deficiency (ectrodactyly in most of the cases) and renal anomalies (uni- or bilateral renal agenesis or hypoplasia).
Hereditary continuous muscle fiber activity
Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Sensorineural hearing loss - pontobulbar palsy
Glycogen storage disease due to phosphoglycerate mutase deficiency
GSD due to phosphoglycerate mutase deficiency
Glycogenosis due to phosphoglycerate mutase deficiency
Muscle phosphoglycerate mutase deficiency
Myopathy due to phosphoglycerate mutase deficiency
and Nesprin-1-related CMD; see these terms).
Rigid spine congenital muscular dystrophy
Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.
Cerebellar atrophy with progressive microcephaly
Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.
Paraganglioma and gastric stromal sarcoma
Familial papillary thyroid carcinoma with renal papillary neoplasia
Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term).
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).
Acral dysostosis with facial and genital abnormalities
Mesomelic dwarfism-small genitalia syndrome
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
Unilateral renal hypoplasia (RH) is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons.
Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons.
Unilateral multicystic dysplastic kidney
Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.
Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.
Renal tubular dysgenesis of genetic origin
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Congenital and infantile nephrotic syndrome
Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Maternal uniparental disomy of chromosome 13
17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectualdeficit, and large number of neurofibromas.
Neurofibromatosis type 1 microdeletion syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome
Pigment anomaly - ectrodactyly - hypodontia
Peripheral resistance to thyroid hormones
Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Gonadal dysgenesis of gynecological interest
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Syndrome with 46,XY disorder of sex development
Autosomal recessive congenital cerebellar ataxia
Autosomal recessive metabolic cerebellar ataxia
Autosomal recessive cerebellar ataxia due to a DNA repair defect
Autosomal recessive degenerative and progressive cerebellar ataxia
Autosomal recessive syndromic cerebellar ataxia
Dysmorphologic diseases with phakomatosis
Monogenic obesity due to a leptin-melanocortin pathway anomaly
Embryonic testicular regression syndrome
Male infertility due to gonadal dysgenesis
Male infertility due to testicular dysgenesis
Autosomal dominant isolated diffuse palmoplantar keratoderma
Autosomal dominant isolated diffuse palmoplantar hyperkeratosis
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature
Autosomal recessive isolated diffuse palmoplantar keratoderma
Autosomal recessive isolated diffuse palmoplantar hyperkeratosis
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature
Constitutional anemia due to iron metabolism disorder
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Constitutional hemolytic anemia due to acanthocytosis
Constitutional hemolytic anemia due to acanthocytic disorder
Rare constitutional hemolytic anemia due to an enzyme disorder
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Hemolytic anemia due to a disorder of glycolytic enzymes
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Hemolytic anemia due to an erythroenzymopathy
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Constitutional megaloblastic anemia due to folate metabolism disorder
Vitamin B12- and folate-independent constitutional megaloblastic anemia
Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).
Hereditary combined deficiency of vitamin K-dependent clotting factors
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.
Hereditary combined deficiency of factors II, VII, IX and X
X-linked syndromic intellectual disability
Genetic disease of neuromuscular junction
Non-syndromic pontocerebellar hypoplasia
Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern.
Rare eye disease due to a differentiation anomaly
Precancerous lesion of palpebral epidermis
Palpebral tumor with a vascular malformation
Congenital absence of the eyebrow/eyelashes
Secretory apparatus of the lacrimal system anomaly
Excretory apparatus of the lacrimal system anomaly
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.
Anomaly of the secretory and excretory apparatus of the lacrimal system
Conjunctival hemangioma or hemolymphangioma
Bulbar conjunctival dermoid or conjunctival dermolipoma
The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.
The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.
Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.
Glaucoma associated with neural crest cell migration anomaly
Secondary glaucoma due to a proliferation and differentiation anomaly
Rare disease with glaucoma as a major feature
Cataract associated with a metabolic disease
Unclassified primitive or secondary maculopathy
Disease predisposing to age-related macular degeneration
Autosomal dominant optic atrophy, classic type
Autosomal dominant optic atrophy, Kjer type
Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects
Autosomal recessive isolated optic atrophy
Autosomal recessive syndromic optic atrophy
Rare strabismus and restriction syndrome
Craniostenosis associated with a strabismus
Oculomotor apraxia or related oculomotor disease
Myasthenic syndrome with eye involvement
Nervous system anomaly with eye involvement
Spinocerebellar ataxia with oculomotor anomaly
Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
Mitochondrial disease with eye involvement
Genetic keratinization disorder associated with ocular features
Ichthyosis associated with ocular features
Syndromic ichthyosis associated with ocular features
Pigmentation disorder with eye involvement
Connective tissue disease with eye involvement
Disease with potential neoplastic degeneration associated with ocular features
Onycho-patellar syndrome with eye involvement
Pigmentation disorder with eye involvement, excluding albinism
Ectodermal malformation syndrome associated with ocular features
Metabolic disease associated with ocular features
Metabolic disease with pigmentary retinitis
Metabolic disease with macular cherry-red spot
Noonan syndrome and Noonan-related syndrome
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
Autosomal dominant striatonigral degeneration
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Alpha thalassemia - intellectual disability syndrome, deletion type
Alpha thalassemia - retardation syndrome
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
Prader-Willi syndrome due to paternal 15q11q13 deletion
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Generalized cervical and upper-limb-onset dystonia
Idiopathic torsion dystonia of mixed type
Primary torsion dystonia with predominant craniocervical or upper limb onset
Autosomal dominant dopa-responsive dystonia
Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
GTPCH1-deficient dopa-responsive dystonia
Hereditary progressive dystonia with marked diurnal fluctuation
Familial paroxysmal kinesigenic dyskinesia
Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.
Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation.
Paroxystic non-kinesigenic choreoathetosis
Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.
Benign childhood occipital epilepsy, Panayiotopoulos type
Early-onset benign childhood occipital epilepsy
Benign childhood occipital epilepsy, Gastaut type
Late onset benign childhood occipital epilepsy
Familial focal epilepsy with variable foci
Familial partial epilepsy with variable foci
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type 1
Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.
Congenital dyserythropoietic anemia type III
Congenital dyserythropoietic anemia type 3
Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
Non-Leber type optic atrophy with early-onset
Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Congenital myopathy with excess of thin filaments
Congenital multicore myopathy with external ophthalmoplegia
Neutral lipid storage disease with ichthyosis
Neutral lipid storage disease with myopathy without ichthyosis
Late-onset distal myopathy, Markesbery-Griggs type
Postsynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes
Synaptic congenital myasthenic syndromes
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
Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia (small eye) associated with ocular coloboma (a hole in one of the structures of the eye resulting from abnormal or incomplete fusion of the optic fissure).
Microphthalmia - anophthalmia - coloboma
Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.
Juvenile hereditary epithelial dystrophy of Meesmann
Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.
Band-shaped and whorled microcystic dystrophy of the corneal epithelium
Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.
Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
Primary familial amyloidosis of the cornea
Subepithelial mucinous corneal dystrophy
Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.
Anterior limiting membrane dystrophy type II
Corneal dystrophy of Bowman layer type II
Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.
Anterior limiting membrane dystrophy type I
Corneal dystrophy of Bowman layer type I
Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
Hereditary crystalline stromal dystrophy of Schnyder
Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.
Schnyder crystalline dystrophy sine crystals
Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.
Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.
François-Neetens speckled corneal dystrophy
Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.
Central cloudy corneal dystrophy of Francois
Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.
Posterior polymorphous corneal dystrophy
Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.
Congenital hereditary endothelial dystrophy type I
Autosomal dominant congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.
Congenital hereditary endothelial dystrophy type 1
Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm.
Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment .
Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbes line and iris bands extending into the cornea. In contrast, Riegers anomaly (see this term) includes characteristic iris and pupil anomalies.
Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms).
Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.
Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.
Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.
Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) or in the case of ACDA 4 (see these terms), may describe a cerebellar syndrome with the occurrence of epilepsy.
Autosomal dominant spinocerebellar ataxia
Agnathia - holoprosencephaly - situs inversus
Adult-onset foveomacular vitelliform dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
Adult-onset vitelliform macular dystrophy
Reticular dystrophy of the retinal pigment epithelium
Multifocal pattern dystrophy simulating fundus flavimaculatus
Autosomal recessive optic atrophy, OPA6 type
Congenital or early infantile optic atrophy
Autosomal recessive spastic paraplegia type 7
X-linked Charcot-Marie-Tooth disease type 5
Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.
Adult-onset autosomal dominant leukodystrophy
Congenitally uncorrected transposition of the great arteries with coarctation
Congenitally uncorrected transposition of the great vessels with coarctation
Double outlet right ventricle, Fallot type
Double outlet right ventricle with subaortic ventricular septal defect
Double outlet right ventricle with subpulmonary ventricular septal defect
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Double outlet right ventricle with doubly committed ventricular septal defect
Ventricular septal defect with aortic insufficiency
Left ventricular-to-right atrial communication
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.
Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome
Atrial septal defect, ostium secundum type
Atrial septal defect, coronary sinus type
Atrial septal defect, sinus venosus type
Atrial septal defect, ostium primum type
6-phosphogluconate dehydrogenase deficiency
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.
Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.
Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.
Paternal uniparental disomy of chromosome 13
Arthrogryposis multiplex congenita - pulmonary hypoplasia
Turner syndrome due to structural X chromosome anomalies
Complete androgen insensitivity syndrome
Spondyloepimetaphyseal dysplasia, Handigodu type
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Mesial temporal lobe epilepsy with hippocampal sclerosis
Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax.
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.
Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).
Acetazolamide-responsive congenital myotonia
Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).
Rare familial disorder with hypertrophic cardiomyopathy
Rare familial disorder with hypertrophic obstructive cardiomyopathy
Rare familial disorder with hypertrophic subaortic stenosis
Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms).
Familial hyperreninemic hypoaldosteronism type 1
Corticosterone methyloxidase deficiency type I
Familial hyperreninemic hypoaldosteronism type 2
Aldosterone synthase deficiency unlinked to CYP11B2
Aldosterone synthase deficiency unlinked to the aldosterone synthase gene
Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.
Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.
Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
Congenital central alveolar hypoventilation - Hirschsprung disease
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).
Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
Resistance to thyrotropin-releasing hormone syndrome
Central hypothyroidism due to TRH receptor deficiency
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.
Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.
Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
Glycogen storage disease due to muscle beta-enolase deficiency
GSD due to muscle beta-enolase deficiency
Glycogenosis due to muscle beta-enolase deficiency
Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
Progressive encephalopathy with severe infantile anorexia
Reunion island - anorexia - vomiting which is irrepressible - neurological signs
Permanent neonatal diabetes mellitus (PNDM) is a non-syndromic monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first six months of life, requiring continuous insulin treatment.
Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in some patients.
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
MSMD due to complete IFNgammaR1 deficiency
MSMD due to complete interferon gamma receptor 1 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency
Long chain acyl-CoA dehydrogenase deficiency
Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
Autosomal dominant Charcot-Marie-Tooth disease type 2G
Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course.
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis.
Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis.
), mapped to chromosome 8q24 and almost exclusively reported in Bulgarian Romani community of Lom on the Danube.
Hereditary motor and sensory neuropathy, Lom type
Autosomal recessive congenital hypomyelinating neuropathy
Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy.
Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy.
Hereditary motor and sensory neuropathy, Russe Type
Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy
Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy.
Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy.
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy
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).
Relation between occurrents, shares start and end boundaries.
c existence_ends_at e iff c exists_at e and not ( exists e2 : c exists_at e2 and e before e2).
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)
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).
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
Relation between continuant c and occurrent s, such that every instance of c ceases to exist before s.
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.
Relation between continuant and occurrent, such that c ceases to exist at the end of p.
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
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
c existence_starts_at e iff c exists_at e and not ( exists e2 : c exists_at e2 and e2 before e)
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.
X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y
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.
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
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.
m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.
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.
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.
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.
A overlaps B if they share some part in common.
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.
relation between an artery and the structure is supplies with blood.
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).
Relation between occurrents, shares an end boundary with.
Relation between occurrents, shares a start boundary with.
x proximal_to y iff x is closer to the point of attachment with the body than y.
This relation take from EHDAA2 - precise semantics yet to be defined
X intersects_median_plane of iff X crosses the midine plane of 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.
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
x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y
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.
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)