versionSubject
version info: 2.7

part_of
type: ObjectProperty

curator_inference
type: AnnotationProperty

manual_assertion
type: AnnotationProperty

obsolete class
definition: ORPHA number no more in use. Deprecated entities are part of them. They are clinical entities thought to be unique in the past but now considered, thanks to the evolution of the knowledge, part of another clinical entity.
type: Class
subclass of: Thing

48,XXYY syndrome
part of: Rare syndromic intellectual disability
part of: Orphanet_165707
part of: Orphanet_263749
part of: Orphanet_325546
tree view: Rare syndromic intellectual disability
tree view: Orphanet_165707
tree view: Orphanet_263749
tree view: Orphanet_325546
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q98.8
has db xref: MeSH:D007713
has db xref: MedDRA:10048230
has db xref: UMLS:C2936741
type: Class
subclass of: Orphanet_377789
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_165707
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_263749
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_325546
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.9
    on property: Orphanet C029
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
notation: ORPHA:10

Ataxia-telangiectasia
part of: Orphanet_139027
part of: Orphanet_169346
part of: Orphanet_183422
part of: Orphanet_183478
part of: Orphanet_252190
part of: Orphanet_485382
part of: Orphanet_519341
part of: Orphanet_522506
part of: Orphanet_522520
part of: Orphanet_79379
part of: Orphanet_95710
part of: Orphanet_98097
part of: Orphanet_98683
tree view: Orphanet_139027
tree view: Orphanet_169346
tree view: Orphanet_183422
tree view: Orphanet_183478
tree view: Orphanet_252190
tree view: Orphanet_485382
tree view: Orphanet_519341
tree view: Orphanet_522506
tree view: Orphanet_522520
tree view: Orphanet_79379
tree view: Orphanet_95710
tree view: Orphanet_98097
tree view: Orphanet_98683
alternative term: Louis-Bar syndrome
definition: Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
definition citation: orphanet
has db xref: ICD-10:G11.3
has db xref: MeSH:D001260
has db xref: MedDRA:10003594
has db xref: OMIM:208900
has db xref: OMIM:208910
has db xref: UMLS:C0004135
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139027
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_169346
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183422
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183478
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_252190
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_485382
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519341
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522506
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522520
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79379
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95710
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98097
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98683
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.49
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410066
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.25
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.19
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410157
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.4
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410157
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410169
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.15
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.25
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410225
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.7
    on property: Orphanet C029
notation: ORPHA:100

Ocular albinism with late-onset sensorineural deafness
part of: Orphanet_284804
part of: Orphanet_90642
tree view: Orphanet_284804
tree view: Orphanet_90642
definition: Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.
definition citation: orphanet
has db xref: ICD-10:E70.3
has db xref: MeSH:C537043
has db xref: OMIM:300650
has db xref: UMLS:C1845069
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 9.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_284804
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:1000

Reticular perineurioma
part of: Extraneural perineurioma
tree view: Extraneural perineurioma
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Extraneural perineurioma
notation: ORPHA:100000

Sclerosing perineurioma
part of: Extraneural perineurioma
tree view: Extraneural perineurioma
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Extraneural perineurioma
notation: ORPHA:100001

Extraneural perineurioma
part of: Orphanet_85102
tree view: Orphanet_85102
alternative term: Soft tissue perineurioma
definition: Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_85102
notation: ORPHA:100002

Intraneural perineurioma
part of: Orphanet_85102
tree view: Orphanet_85102
definition: Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.
definition citation: orphanet
has db xref: UMLS:C1370658
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_85102
notation: ORPHA:100003

ABeta amyloidosis, Dutch type
part of: Orphanet_85458
tree view: Orphanet_85458
alternative term: ABetaE22Q amyloidosis
alternative term: HCHWA, Dutch type
alternative term: HCHWA-D
alternative term: Hereditary cerebral hemorrhage with amyloidosis, Dutch type
definition: 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.
definition citation: orphanet
has db xref: ICD-10:E85.4+
has db xref: ICD-10:I68.0*
has db xref: MeSH:C537944
has db xref: MeSH:D028243
has db xref: OMIM:605714
has db xref: UMLS:C0268394
has db xref: UMLS:C2931672
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 250.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_85458
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100006

ACys amyloidosis
part of: Orphanet_85458
tree view: Orphanet_85458
alternative term: CST3-related amyloidosis
alternative term: Cystatin amyloidosis
alternative term: HCHWA, Icelandic type
alternative term: Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
alternative term: Hereditary cystatin C amyloid angiopathy
definition: 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.
definition citation: orphanet
has db xref: ICD-10:E85.4+
has db xref: ICD-10:I68.0*
has db xref: OMIM:105150
has db xref: UMLS:C1527338
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 9.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_85458
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100008

Lissencephaly with cerebellar hypoplasia type A
part of: Orphanet_86823
tree view: Orphanet_86823
definition: Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.
definition citation: orphanet
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377789
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:100011

Lissencephaly with cerebellar hypoplasia type B
part of: Orphanet_86823
tree view: Orphanet_86823
definition: Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.
definition citation: orphanet
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 50.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
notation: ORPHA:100012

Lissencephaly with cerebellar hypoplasia type C
part of: Orphanet_86823
tree view: Orphanet_86823
definition: Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
definition citation: orphanet
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:100013

Lissencephaly with cerebellar hypoplasia type D
part of: Orphanet_86823
tree view: Orphanet_86823
definition: Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least ± 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
definition citation: orphanet
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377789
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:100014

Lissencephaly with cerebellar hypoplasia type E
part of: Orphanet_86823
tree view: Orphanet_86823
definition: Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (± 3 SD) and brainstem hypoplasia.
definition citation: orphanet
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377789
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:100015

Lissencephaly with cerebellar hypoplasia type F
part of: Orphanet_86823
tree view: Orphanet_86823
definition: Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
definition citation: orphanet
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377789
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
notation: ORPHA:100016

Refractory anemia with excess blasts type 1
part of: Orphanet_86839
tree view: Orphanet_86839
alternative term: RAEB-1
definition: Refractory anemia with excess blasts (RAEB), type 1 is a severe type of RAEB (see this term) characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
definition citation: orphanet
has db xref: ICD-10:D46.2
has db xref: UMLS:C1318550
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86839
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100019

Refractory anemia with excess blasts type 2
part of: Orphanet_86839
tree view: Orphanet_86839
alternative term: RAEB-2
definition: Refractory anemia with excess blasts (RAEB), type 2 is a very severe type of RAEB (see this term) characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
definition citation: orphanet
has db xref: ICD-10:D46.2
has db xref: UMLS:C1318551
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100020

Primary plasmacytoma of the bone
part of: Orphanet_86855
tree view: Orphanet_86855
has db xref: ICD-10:C90.3
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.15
    on property: Orphanet C032
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86855
notation: ORPHA:100021

Extramedullary soft tissue plasmacytoma
part of: Orphanet_86855
tree view: Orphanet_86855
has db xref: ICD-10:C90.2
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410225
  intersection of: Restriction
    has value: 0.1
    on property: Orphanet C032
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86855
notation: ORPHA:100022

Mu-heavy chain disease
part of: Orphanet_86864
tree view: Orphanet_86864
alternative term: mu-HCD
definition: Mu-heavy chain disease (mu-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL; see this term).
definition citation: orphanet
has db xref: ICD-10:C88.2
has db xref: UMLS:C0242310
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 35.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86864
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100024

Alpha-heavy chain disease
part of: Orphanet_86864
tree view: Orphanet_86864
alternative term: Alpha-HCD
alternative term: IPSID
alternative term: Immunoproliferative small intestinal disease
alternative term: Mediterranean lymphoma
definition: Alpha-heavy chain disease (alpha-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID; see this term). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
definition citation: orphanet
has db xref: ICD-10:C88.3
has db xref: UMLS:C0021071
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 400.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86864
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100025

Gamma-heavy chain disease
part of: Orphanet_86864
tree view: Orphanet_86864
alternative term: Franklin disease
alternative term: Gamma-HCD
definition: Gamma-heavy chain disease (gamma-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
definition citation: orphanet
has db xref: ICD-10:C88.2
has db xref: UMLS:C0018854
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 120.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86864
notation: ORPHA:100026

Hypoplastic amelogenesis imperfecta
part of: Orphanet_88661
tree view: Orphanet_88661
alternative term: Amelogenesis imperfecta type 1
has db xref: ICD-10:K00.5
has db xref: OMIM:104500
has db xref: OMIM:104530
has db xref: OMIM:204650
has db xref: OMIM:301201
has db xref: OMIM:616221
has db xref: OMIM:616270
has db xref: OMIM:617297
has db xref: UMLS:C0399367
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88661
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409934
notation: ORPHA:100031

Hypocalcified amelogenesis imperfecta
part of: Orphanet_88661
tree view: Orphanet_88661
alternative term: Amelogenesis imperfecta type 3
has db xref: ICD-10:K00.5
has db xref: OMIM:130900
has db xref: OMIM:616221
has db xref: OMIM:617607
has db xref: UMLS:C0399376
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88661
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
notation: ORPHA:100032

Hypomaturation amelogenesis imperfecta
part of: Orphanet_88661
tree view: Orphanet_88661
alternative term: Amelogenesis imperfecta type 2
has db xref: ICD-10:K00.5
has db xref: MeSH:C536606
has db xref: OMIM:204700
has db xref: OMIM:301200
has db xref: OMIM:612529
has db xref: OMIM:613211
has db xref: OMIM:614832
has db xref: OMIM:615887
has db xref: OMIM:617217
has db xref: UMLS:C0399372
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88661
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409934
notation: ORPHA:100033

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
part of: Orphanet_88661
tree view: Orphanet_88661
alternative term: Amelogenesis imperfecta type 4
has db xref: ICD-10:K00.5
has db xref: OMIM:104510
has db xref: UMLS:C0399373
has db xref: UMLS:C1863012
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88661
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
notation: ORPHA:100034

Solitary necrotic nodule of the liver
part of: Orphanet_306636
tree view: Orphanet_306636
alternative term: Hepatic solitary necrotic nodule
definition: Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.
definition citation: orphanet
has db xref: ICD-10:D13.4
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306636
notation: ORPHA:100035

Familial pseudohyperkalemia type 1
reason for obsolescence: This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3202 with label: Dehydrated hereditary stomatocytosis
type: Class
subclass of: obsolete class

OBSOLETE: Familial pseudohyperkalemia type 2
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_90044 with label: Familial pseudohyperkalemia
type: Class
subclass of: obsolete class

OBSOLETE: Familial pseudohyperkalemia, Cardiff type
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_90044 with label: Familial pseudohyperkalemia
type: Class
subclass of: obsolete class

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
part of: Orphanet_90114
tree view: Orphanet_90114
alternative term: CMTDIA
definition: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:606483
has db xref: UMLS:C1847896
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 20.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90114
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100043

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
part of: Orphanet_90114
tree view: Orphanet_90114
alternative term: CMTDIB
definition: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:606482
has db xref: UMLS:C1847902
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90114
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100044

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
part of: Orphanet_90114
tree view: Orphanet_90114
alternative term: CMTDIC
definition: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:608323
has db xref: UMLS:C1842237
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 35.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90114
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100045

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
part of: Orphanet_90114
tree view: Orphanet_90114
alternative term: CMTDID
definition: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:607791
has db xref: UMLS:C1843075
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 12.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90114
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100046

Esophageal duplication cyst
part of: Orphanet_91357
tree view: Orphanet_91357
definition: Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.
definition citation: orphanet
has db xref: ICD-10:Q39.8
type: Class
subclass of: Orphanet_377791
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91357
notation: ORPHA:100047

Tubular duplication of the esophagus
part of: Orphanet_91357
tree view: Orphanet_91357
definition: Tubular duplication of the esophagous is a rare congenital malformation 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.
definition citation: orphanet
has db xref: ICD-10:Q39.8
type: Class
subclass of: Orphanet_377791
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91357
notation: ORPHA:100048

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
alternative term: Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
definition: 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.
definition citation: orphanet
type: Class
subclass of: Orphanet_264670
subclass of: Orphanet_264992
subclass of: Orphanet_377794
notation: ORPHA:100049

Hereditary angioedema type 1
part of: Orphanet_91378
tree view: Orphanet_91378
alternative term: HAE 1
alternative term: HAE-I
alternative term: Hereditary angioneurotic edema type 1
definition: 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.
definition citation: orphanet
has db xref: ICD-10:D84.1
has db xref: MeSH:C538577
has db xref: OMIM:106100
has db xref: UMLS:C0398775
has db xref: UMLS:C2717906
type: Class
subclass of: Orphanet_377795
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.54
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91378
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:100050

Hereditary angioedema type 2
part of: Orphanet_91378
tree view: Orphanet_91378
alternative term: HAE 2
alternative term: HAE-II
alternative term: Hereditary angioneurotic edema type 2
definition: 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.
definition citation: orphanet
has db xref: ICD-10:D84.1
has db xref: OMIM:106100
has db xref: UMLS:C0398776
has db xref: UMLS:C1862892
type: Class
subclass of: Orphanet_377795
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91378
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:100051

Hereditary angioedema type 3
part of: Orphanet_91378
tree view: Orphanet_91378
alternative term: HAE 3
alternative term: HAE-III
alternative term: Hereditary angioneurotic edema type 3
alternative term: Inherited estrogen-associated angioedema
alternative term: Inherited estrogen-associated angioneurotic edema
alternative term: Inherited estrogen-dependent angioedema
alternative term: Inherited estrogen-dependent angioneurotic edema
definition: 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.
definition citation: orphanet
has db xref: ICD-10:D84.1
has db xref: MeSH:D056828
has db xref: OMIM:610618
has db xref: UMLS:C1857728
has db xref: UMLS:C1960459
type: Class
subclass of: Orphanet_377795
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91378
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100054

Acquired angioedema type 2
part of: Orphanet_91385
tree view: Orphanet_91385
alternative term: AAE 2
alternative term: AAE II
alternative term: Acquired angioneurotic edema type 2
definition: Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
definition citation: orphanet
has db xref: ICD-10:T78.3
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91385
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100055

Acquired angioedema type 1
part of: Orphanet_91385
tree view: Orphanet_91385
alternative term: Acquired angioneurotic edema type 1
definition: Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
definition citation: orphanet
has db xref: ICD-10:T78.3
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91385
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100056

Renin-angiotensin-aldosterone system-blocker-induced angioedema
part of: Orphanet_91385
tree view: Orphanet_91385
alternative term: RAAS-blocker-induced angioedema
alternative term: RAAS-blocker-induced angioneurotic edema
alternative term: RAE
alternative term: Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
definition: Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
definition citation: orphanet
has db xref: ICD-10:T78.3
has db xref: OMIM:300909
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91385
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409931
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100057

Waterhouse-Friderichsen syndrome
part of: Orphanet_95409
tree view: Orphanet_95409
has db xref: ICD-10:A39.1+
has db xref: ICD-10:E35.1*
has db xref: MeSH:D014884
has db xref: MedDRA:10047847
has db xref: UMLS:C0043068
has db xref: UMLS:C1403891
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95409
notation: ORPHA:100067

Semantic dementia
part of: Orphanet 282
part of: Orphanet_95432
tree view: Orphanet 282
tree view: Orphanet_95432
alternative term: Semantic primary progressive aphasia
alternative term: Semantic variant PPA
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G31.0
has db xref: OMIM:172700
has db xref: OMIM:600274
has db xref: UMLS:C0338462
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 282
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95432
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409931
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100069

Progressive non-fluent aphasia
part of: Orphanet 282
part of: Orphanet_306708
part of: Orphanet_95432
tree view: Orphanet 282
tree view: Orphanet_306708
tree view: Orphanet_95432
alternative term: Agramatic variant of PPA
alternative term: Agramatic variant of primary progressive aphasia
alternative term: Non-fluent variant PPA
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G31.0
has db xref: MeSH:D057178
has db xref: MedDRA:10029542
has db xref: OMIM:172700
has db xref: OMIM:600274
has db xref: OMIM:607485
has db xref: UMLS:C0751706
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    has value: 0.7
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 2.5
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 282
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306708
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95432
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409931
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100070

Mosaic trisomy 3
part of: Orphanet_98131
tree view: Orphanet_98131
alternative term: Mosaic trisomy chromosome 3
alternative term: Trisomy 3 mosaicism
definition: Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
definition citation: orphanet
has db xref: ICD-10:Q92.1
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 6.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98131
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:100071

OBSOLETE: True vascular thoracic outlet syndrome
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_97330 with label: Thoracic outlet syndrome
type: Class
subclass of: obsolete class

Neurogenic thoracic outlet syndrome
part of: Orphanet_97330
tree view: Orphanet_97330
alternative term: NTOS
alternative term: Neurogenic TOS
alternative term: Neurogenic cervical rib syndrome
alternative term: Neurogenic costoclavicular syndrome
alternative term: Neurogenic thoracic outlet compression syndrome
definition: Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.
definition citation: orphanet
has db xref: ICD-10:G54.0
has db xref: UMLS:C0751549
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97330
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:100073

Neuroendocrine tumor of stomach
part of: Orphanet_481508
part of: Orphanet_63443
tree view: Orphanet_481508
tree view: Orphanet_63443
alternative term: GNET
alternative term: Gastric NET
alternative term: Gastric neuroendocrine tumor
alternative term: NET of stomach
definition: Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.2
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410102
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.5
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.7
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.7
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_63443
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409949
notation: ORPHA:100075

Duodenal neuroendocrine tumor
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_423975
notation: ORPHA:100076

Jejunal neuroendocrine tumor
alternative term: Jejunal neuroendocrine neoplasm
definition: Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
definition citation: orphanet
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_423975
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100077

Ileal neuroendocrine tumor
part of: Orphanet_423975
tree view: Orphanet_423975
alternative term: Ileal neuroendocrine neoplasm
definition: Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423975
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100078

Neuroendocrine neoplasm of appendix
part of: Orphanet_423982
part of: Orphanet_481508
tree view: Orphanet_423982
tree view: Orphanet_481508
alternative term: Appendiceal NEN
alternative term: Appendiceal neuroendocrine neoplasm
alternative term: NEN of appendix
definition: Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).
definition citation: orphanet
has db xref: ICD-10:C18.1
has db xref: ICD-10:D37.3
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423982
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
notation: ORPHA:100079

Neuroendocrine tumor of the colon
part of: Orphanet_423991
part of: Orphanet_481508
tree view: Orphanet_423991
tree view: Orphanet_481508
alternative term: Colonic NET
alternative term: NET of the colon
alternative term: Neuroendocrine neoplasm of the colon
definition: Neuroendocrine tumor of the colon is a rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409949
notation: ORPHA:100080

Neuroendocrine tumor of the rectum
part of: Orphanet_423998
part of: Orphanet_481508
tree view: Orphanet_423998
tree view: Orphanet_481508
alternative term: NET of the rectum
alternative term: Rectal NET
alternative term: Rectal neuroendocrine tumor
definition: Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423998
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100081

Neuroendocrine tumor of anal canal
part of: Orphanet_424010
part of: Orphanet_481508
tree view: Orphanet_424010
tree view: Orphanet_481508
alternative term: NET of anal canal
definition: Neuroendocrine tumor of the anal canal is an epithelial tumor of anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_424010
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
notation: ORPHA:100082

Laryngeal neuroendocrine tumor
part of: Neuroendocrine tumor with other location
part of: Orphanet_98061
tree view: Neuroendocrine tumor with other location
tree view: Orphanet_98061
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Neuroendocrine tumor with other location
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98061
notation: ORPHA:100083

Middle ear neuroendocrine tumor
part of: Neuroendocrine tumor with other location
part of: Orphanet_98061
tree view: Neuroendocrine tumor with other location
tree view: Orphanet_98061
definition: Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Neuroendocrine tumor with other location
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98061
notation: ORPHA:100084

Primary hepatic neuroendocrine carcinoma
part of: Neuroendocrine tumor with other location
part of: Orphanet_424933
tree view: Neuroendocrine tumor with other location
tree view: Orphanet_424933
definition: Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.
definition citation: orphanet
has db xref: ICD-10:C22.7
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 0.2
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Neuroendocrine tumor with other location
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_424933
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100085

Gallbladder neuroendocrine tumor
part of: Neuroendocrine tumor with other location
part of: Orphanet_306633
tree view: Neuroendocrine tumor with other location
tree view: Orphanet_306633
has db xref: ICD-10:C23
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Neuroendocrine tumor with other location
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306633
notation: ORPHA:100086

Thyroid tumor
has db xref: UMLS:C0040136
type: Class
subclass of: Rare thyroid disease
subclass of: Orphanet_182130
subclass of: Orphanet_377794
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.2
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410066
  intersection of: Restriction
    has value: 5.35
    on property: Orphanet C032
notation: ORPHA:100087

Thyroid carcinoma
has db xref: MedDRA:10007476
has db xref: UMLS:C0549473
type: Class
subclass of: Thyroid tumor
subclass of: Orphanet_377794
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409975
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410225
  intersection of: Restriction
    has value: 12.2
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    has value: 3.65
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    has value: 3.9
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C027
    some values from: Orphanet_409978
  intersection of: Restriction
    has value: 61.7
    on property: Orphanet C030
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100088

Rare parathyroid tumor
has db xref: ICD-10:C75.0
has db xref: ICD-10:D35.1
has db xref: ICD-10:D44.2
has db xref: UMLS:C0030521
type: Class
subclass of: Orphanet_182130
subclass of: Orphanet_377794
subclass of: Orphanet_68415
notation: ORPHA:100090

Adrenal/paraganglial tumor
type: Class
subclass of: Rare adrenal disease
subclass of: Orphanet_182130
subclass of: Orphanet_377794
notation: ORPHA:100091

Gastroenteropancreatic neuroendocrine neoplasm
alternative term: GEP-NEN
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet 877
notation: ORPHA:100092

Carcinoid syndrome
part of: Orphanet 877
tree view: Orphanet 877
alternative term: Malignant carcinoid syndrome
has db xref: ICD-10:E34.0
has db xref: OMIM:114900
type: Class
subclass of: Orphanet_377792
notation: ORPHA:100093

Multiple polyglandular tumor
has db xref: ICD-10:D44.8
has db xref: UMLS:C0027662
type: Class
subclass of: Polyendocrinopathy
subclass of: Orphanet_182130
subclass of: Orphanet_183643
subclass of: Orphanet_271847
subclass of: Orphanet_377794
notation: ORPHA:100094

2q37 microdeletion syndrome
part of: Rare syndromic intellectual disability
part of: Orphanet_262010
part of: Orphanet_498454
tree view: Rare syndromic intellectual disability
tree view: Orphanet_262010
tree view: Orphanet_498454
alternative term: Albright hereditary osteodystrophy type 3
alternative term: Albright hereditary osteodystrophy-like syndrome
alternative term: Brachydactyly-intellectual disability syndrome
alternative term: Del(2)(q37)
alternative term: Deletion 2q37
alternative term: Deletion 2q37-qter
alternative term: Monosomy 2q37-qter
definition: Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
definition citation: orphanet
has db xref: ICD-10:Q93.5
has db xref: MeSH:C538317
has db xref: OMIM:600430
has db xref: UMLS:C2931817
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 115.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_262010
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498454
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1001

Thymic tumor
has db xref: UMLS:C3714644
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98057
notation: ORPHA:100100

Neuroendocrine tumor with other location
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet 877
notation: ORPHA:100101

Scalp defects-postaxial polydactyly syndrome
part of: Orphanet_183481
part of: Orphanet_294959
part of: Orphanet_79380
tree view: Orphanet_183481
tree view: Orphanet_294959
tree view: Orphanet_79380
definition: Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.
definition citation: orphanet
has db xref: ICD-10:Q87.2
has db xref: MeSH:C536622
has db xref: OMIM:181250
has db xref: UMLS:C1867021
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294959
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1003

Alopecia-contractures-dwarfism-intellectual disability syndrome
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_79373
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_79373
alternative term: ACD-intellectual disability syndrome
definition: Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C537051
has db xref: OMIM:203550
has db xref: UMLS:C0795895
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 5.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
notation: ORPHA:1005

Alopecia antibody deficiency
part of: Orphanet_331244
part of: Orphanet_79364
tree view: Orphanet_331244
tree view: Orphanet_79364
alternative term: Ipp-Gelfand syndrome
definition: Alopecia antibody deficiency is a rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_331244
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79364
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1006

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_481771
part of: Orphanet_79364
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_481771
tree view: Orphanet_79364
alternative term: Shokeir syndrome
definition: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C537057
has db xref: OMIM:104130
has db xref: UMLS:C1863090
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 12.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481771
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79364
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1008

Porphyria due to ALA dehydratase deficiency
part of: Orphanet_95157
tree view: Orphanet_95157
alternative term: ALAD porphyria
alternative term: Porphyria due to ALAD deficiency
alternative term: Porphyria due to delta-aminolevulinate dehydratase deficiency
alternative term: Porphyria of Doss
definition: Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.
definition citation: orphanet
has db xref: ICD-10:E80.2
has db xref: OMIM:612740
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95157
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:100924

FRAXE intellectual disability
part of: Orphanet_98464
tree view: Orphanet_98464
alternative term: Intellectual disability associated with fragile site FRAXE
definition: FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.
definition citation: orphanet
has db xref: OMIM:309548
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98464
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
notation: ORPHA:100973

FRAXF syndrome
part of: Orphanet_98053
tree view: Orphanet_98053
definition: FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98053
notation: ORPHA:100974

Bathing suit ichthyosis
part of: Orphanet_281097
tree view: Orphanet_281097
alternative term: BSI
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q80.2
has db xref: OMIM:242300
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 20.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_281097
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:100976

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
part of: Orphanet_139393
tree view: Orphanet_139393
alternative term: Benallegue-Lacete syndrome
definition: Cloverleaf skull-asphyxiating thoracic dysplasia is a rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.
definition citation: orphanet
has db xref: ICD-10:Q87.5
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139393
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:100978

Autosomal dominant complex spastic paraplegia
alternative term: Autosomal dominant complex HSP
alternative term: Autosomal dominant complex SPG
alternative term: Autosomal dominant complicated HSP
alternative term: Autosomal dominant complicated SPG
alternative term: Autosomal dominant complicated spastic paraplegia
has db xref: ICD-10:G11.4
type: Class
subclass of: Complex hereditary spastic paraplegia
subclass of: Orphanet_377794
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410157
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C028
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
notation: ORPHA:100979

Autosomal dominant pure spastic paraplegia
alternative term: Autosomal dominant pure HSP
alternative term: Autosomal dominant pure SPG
alternative term: Autosomal dominant uncomplicated HSP
alternative term: Autosomal dominant uncomplicated SPG
alternative term: Autosomal dominant uncomplicated spastic paraplegia
has db xref: ICD-10:G11.4
type: Class
subclass of: Pure hereditary spastic paraplegia
subclass of: Orphanet_377794
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410097
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410157
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 4.4
    on property: Orphanet C028
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
notation: ORPHA:100980

Autosomal recessive complex spastic paraplegia
alternative term: Autosomal recessive complex HSP
alternative term: Autosomal recessive complex SPG
alternative term: Autosomal recessive complicated HSP
alternative term: Autosomal recessive complicated SPG
alternative term: Autosomal recessive complicated spastic paraplegia
has db xref: ICD-10:G11.4
type: Class
subclass of: Complex hereditary spastic paraplegia
subclass of: Orphanet_377794
notation: ORPHA:100981

Autosomal recessive pure spastic paraplegia
alternative term: Autosomal recessive pure HSP
alternative term: Autosomal recessive pure SPG
alternative term: Autosomal recessive uncomplicated HSP
alternative term: Autosomal recessive uncomplicated SPG
alternative term: Autosomal recessive uncomplicated spastic paraplegia
has db xref: ICD-10:G11.4
type: Class
subclass of: Pure hereditary spastic paraplegia
subclass of: Orphanet_377794
notation: ORPHA:100982

Autosomal dominant spastic paraplegia type 3
part of: Orphanet_320342
tree view: Orphanet_320342
alternative term: Strümpell disease
definition: Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536864
has db xref: OMIM:182600
has db xref: UMLS:C2931355
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410169
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.14
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100984

Autosomal dominant spastic paraplegia type 4
part of: Orphanet_320342
tree view: Orphanet_320342
alternative term: SPG4
definition: Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536865
has db xref: OMIM:182601
has db xref: UMLS:C1866855
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410169
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.91
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100985

Autosomal recessive spastic paraplegia type 5A
part of: Orphanet_320346
tree view: Orphanet_320346
alternative term: SPG5A
definition: Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536871
has db xref: OMIM:270800
has db xref: UMLS:C1849115
has db xref: UMLS:C2931356
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320346
notation: ORPHA:100986

Autosomal dominant spastic paraplegia type 6
part of: Orphanet_320342
tree view: Orphanet_320342
alternative term: SPG6
definition: Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536866
has db xref: OMIM:600363
has db xref: UMLS:C1838192
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100988

Autosomal dominant spastic paraplegia type 8
part of: Orphanet_320342
tree view: Orphanet_320342
alternative term: SPG8
has db xref: ICD-10:G11.4
has db xref: MeSH:C536867
has db xref: OMIM:603563
has db xref: UMLS:C1863704
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100989

OBSOLETE: Autosomal dominant spastic paraplegia type 9
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_100979 with label: Autosomal dominant complex spastic paraplegia
type: Class
subclass of: obsolete class

Autosomal dominant spastic paraplegia type 10
part of: Orphanet_320342
tree view: Orphanet_320342
alternative term: SPG10
definition: Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C537482
has db xref: OMIM:604187
has db xref: UMLS:C1858712
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100991

Autosomal dominant spastic paraplegia type 12
part of: Autosomal dominant pure spastic paraplegia
tree view: Autosomal dominant pure spastic paraplegia
alternative term: SPG12
definition: Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C537484
has db xref: OMIM:604805
has db xref: UMLS:C1858106
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Autosomal dominant pure spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:100993

Autosomal dominant spastic paraplegia type 13
part of: Orphanet_320342
tree view: Orphanet_320342
alternative term: SPG13
has db xref: ICD-10:G11.4
has db xref: MeSH:C537485
has db xref: OMIM:605280
has db xref: UMLS:C1854467
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100994

Autosomal recessive spastic paraplegia type 14
part of: Orphanet_320346
tree view: Orphanet_320346
alternative term: SPG14
definition: Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C537486
has db xref: OMIM:605229
has db xref: UMLS:C1854568
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320346
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100995

Autosomal recessive spastic paraplegia type 15
part of: Autosomal recessive complex spastic paraplegia
tree view: Autosomal recessive complex spastic paraplegia
alternative term: Hereditary spastic paraparesis type 15
alternative term: Kjellin syndrome
alternative term: SPG15
alternative term: Spastic paraplegia-retinal degeneration syndrome
definition: Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536642
has db xref: OMIM:270700
has db xref: UMLS:C1849128
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100996

X-linked spastic paraplegia type 16
part of: Orphanet_320350
tree view: Orphanet_320350
alternative term: SPG16
has db xref: ICD-10:G11.4
has db xref: MeSH:C536643
has db xref: OMIM:300266
has db xref: UMLS:C1846046
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320350
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:100997

Autosomal dominant spastic paraplegia type 17
part of: Autosomal dominant complex spastic paraplegia
part of: Orphanet_140465
tree view: Autosomal dominant complex spastic paraplegia
tree view: Orphanet_140465
alternative term: SPG17
alternative term: Silver syndrome
alternative term: Spastic paraplegia-amyotrophy of hands and feet
has db xref: ICD-10:G11.4
has db xref: OMIM:270685
has db xref: UMLS:C2931276
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 20.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_140465
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100998

Autosomal dominant spastic paraplegia type 19
part of: Autosomal dominant pure spastic paraplegia
tree view: Autosomal dominant pure spastic paraplegia
alternative term: SPG19
definition: Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536856
has db xref: OMIM:607152
has db xref: UMLS:C1846685
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal dominant pure spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:100999

Dentatorubral pallidoluysian atrophy
part of: Orphanet_158266
part of: Orphanet_94149
tree view: Orphanet_158266
tree view: Orphanet_94149
alternative term: DRPLA
alternative term: Dentatorubropallidoluysian atrophy
alternative term: Naito-Oyanagi disease
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G11.8
has db xref: OMIM:125370
has db xref: UMLS:C0751781
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410102
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.48
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.71
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_158266
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94149
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:101

Autosomal dominant palmoplantar keratoderma and congenital alopecia
part of: Orphanet_79373
part of: Orphanet_98352
tree view: Orphanet_79373
tree view: Orphanet_98352
alternative term: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
alternative term: PPK-CA, Stevanovic type
alternative term: Palmoplantar keratoderma and congenital alopecia, Stevanovic type
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q82.8
has db xref: OMIM:104100
has db xref: UMLS:C1863093
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98352
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1010

Autosomal recessive spastic paraplegia type 20
part of: Autosomal recessive complex spastic paraplegia
tree view: Autosomal recessive complex spastic paraplegia
alternative term: Childhood-onset spastic paraparesis-distal muscle wasting syndrome
alternative term: SPG20
alternative term: Troyer syndrome
definition: gene (13q13.1), which encodes the protein spartin.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: OMIM:275900
has db xref: UMLS:C0393559
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    has value: 36.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:101000

Autosomal recessive spastic paraplegia type 21
part of: Autosomal recessive complex spastic paraplegia
tree view: Autosomal recessive complex spastic paraplegia
alternative term: Mast syndrome
alternative term: SPG21
definition: Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: OMIM:248900
has db xref: UMLS:C1855346
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101001

Autosomal recessive spastic paraplegia type 23
part of: Autosomal recessive complex spastic paraplegia
tree view: Autosomal recessive complex spastic paraplegia
alternative term: Lison syndrome
alternative term: SPG23
alternative term: Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
definition: Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: OMIM:270750
has db xref: UMLS:C0796019
type: Class
subclass of: Orphanet_377788
subclass of: Class
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 5.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101003

Autosomal recessive spastic paraplegia type 24
part of: Autosomal recessive pure spastic paraplegia
tree view: Autosomal recessive pure spastic paraplegia
alternative term: SPG24
has db xref: ICD-10:G11.4
has db xref: OMIM:607584
has db xref: UMLS:C1843569
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive pure spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:101004

Autosomal recessive spastic paraplegia type 25
part of: Autosomal recessive complex spastic paraplegia
tree view: Autosomal recessive complex spastic paraplegia
alternative term: Autosomal recessive spastic paraplegia-disc herniation syndrome
alternative term: SPG25
definition: Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536861
has db xref: OMIM:608220
has db xref: UMLS:C2936860
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101005

Autosomal recessive spastic paraplegia type 26
part of: Autosomal recessive complex spastic paraplegia
tree view: Autosomal recessive complex spastic paraplegia
alternative term: GM2 synthase deficiency
alternative term: SPG26
definition: gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536862
has db xref: OMIM:609195
has db xref: UMLS:C1836632
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:101006

Autosomal recessive spastic paraplegia type 27
part of: Orphanet_320346
tree view: Orphanet_320346
alternative term: SPG27
definition: Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: OMIM:609041
has db xref: UMLS:C1836899
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320346
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:101007

Autosomal recessive spastic paraplegia type 28
part of: Autosomal recessive pure spastic paraplegia
tree view: Autosomal recessive pure spastic paraplegia
alternative term: SPG28
definition: Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: OMIM:609340
has db xref: UMLS:C1836295
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 7.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive pure spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:101008

Autosomal dominant spastic paraplegia type 29
part of: Autosomal dominant complex spastic paraplegia
tree view: Autosomal dominant complex spastic paraplegia
alternative term: SPG29
definition: Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: MeSH:C536863
has db xref: OMIM:609727
has db xref: UMLS:C1857855
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Autosomal dominant complex spastic paraplegia
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:101009

Autosomal spastic paraplegia type 30
part of: Orphanet_320342
part of: Orphanet_320346
tree view: Orphanet_320342
tree view: Orphanet_320346
alternative term: SPG30
definition: Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: OMIM:610357
has db xref: UMLS:C1835896
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320346
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101010

Autosomal dominant spastic paraplegia type 31
part of: Orphanet_320342
tree view: Orphanet_320342
alternative term: SPG31
definition: 30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: OMIM:610250
has db xref: UMLS:C1853247
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101011

Romano-Ward syndrome
part of: Orphanet 768
tree view: Orphanet 768
alternative term: Romano-Ward long QT syndrome
definition: Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).
definition citation: orphanet
has db xref: ICD-10:I45.8
has db xref: MeSH:D029597
has db xref: MedDRA:10039211
has db xref: OMIM:192500
has db xref: OMIM:600919
has db xref: OMIM:603830
has db xref: OMIM:611818
has db xref: OMIM:611819
has db xref: OMIM:611820
has db xref: OMIM:612955
has db xref: OMIM:613485
has db xref: OMIM:613688
has db xref: OMIM:613693
has db xref: OMIM:613695
has db xref: OMIM:616247
has db xref: OMIM:616249
has db xref: UMLS:C0035828
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 40.0
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 768
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:101016

Mediterranean macrothrombocytopenia
reason for obsolescence: This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2882 with label: Sitosterolemia
type: Class
subclass of: obsolete class

Cleft hard palate
part of: Orphanet 2014
tree view: Orphanet 2014
has db xref: ICD-10:Q35.1
type: Class
subclass of: Orphanet_377791
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2014
notation: ORPHA:101023

Transaldolase deficiency
part of: Orphanet_79186
tree view: Orphanet_79186
alternative term: TALDO deficiency
definition: Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
definition citation: orphanet
has db xref: ICD-10:E74.8
has db xref: OMIM:606003
has db xref: UMLS:C1291329
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 23.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79186
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:101028

Sub-cortical nodular heterotopia
part of: Orphanet 2149
tree view: Orphanet 2149
has db xref: ICD-10:Q04.8
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2149
notation: ORPHA:101029

Subependymal nodular heterotopia
part of: Orphanet 2149
tree view: Orphanet 2149
has db xref: ICD-10:Q04.8
has db xref: MedDRA:10071150
has db xref: UMLS:C3160906
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2149
notation: ORPHA:101030

OBSOLETE: Peters anomaly-cataract syndrome
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_708 with label: Peters anomaly
type: Class
subclass of: obsolete class

OBSOLETE: Zlotogura-Martinez syndrome
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_320317 with label: Cleft lip/palate-ectodermal dysplasia syndrome
type: Class
subclass of: obsolete class

Female restricted epilepsy with intellectual disability
part of: Orphanet 2076
tree view: Orphanet 2076
alternative term: EFMR
alternative term: Juberg-Hellman syndrome
definition: Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
definition citation: orphanet
has db xref: OMIM:300088
has db xref: UMLS:C1848137
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 5.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2076
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
notation: ORPHA:101039

Familial hypofibrinogenemia
part of: Orphanet 335
tree view: Orphanet 335
definition: Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.
definition citation: orphanet
has db xref: ICD-10:D68.2
has db xref: OMIM:202400
has db xref: UMLS:C2584774
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 335
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:101041

OBSOLETE: Taussig-Bing syndrome
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_99045 with label: Double outlet right ventricle with subpulmonary ventricular septal defect
type: Class
subclass of: obsolete class

Aortic valve dysplasia
part of: Orphanet 3093
tree view: Orphanet 3093
has db xref: ICD-10:Q23.0
has db xref: UMLS:C0344993
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 3093
notation: ORPHA:101043

Autosomal dominant epilepsy with auditory features
part of: Orphanet 309
tree view: Orphanet 309
alternative term: ADEAF
alternative term: ADLTE
alternative term: ADPEAF
alternative term: Autosomal dominant lateral temporal lobe epilepsy
alternative term: Partial epilepsy with auditory aura
alternative term: Partial epilepsy with auditory features
has db xref: OMIM:600512
has db xref: OMIM:616436
has db xref: OMIM:616461
has db xref: UMLS:C1838062
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 309
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101046

Familial hypocalciuric hypercalcemia type 2
part of: Orphanet 405
tree view: Orphanet 405
alternative term: FHH type 2
has db xref: ICD-10:E83.5
has db xref: MeSH:C537146
has db xref: OMIM:145981
has db xref: UMLS:C1840347
has db xref: UMLS:C2931427
type: Class
subclass of: Orphanet_377795
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 405
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
notation: ORPHA:101049

Familial hypocalciuric hypercalcemia type 3
part of: Orphanet 405
tree view: Orphanet 405
alternative term: FHH type 3
has db xref: ICD-10:E83.5
has db xref: MeSH:C537147
has db xref: OMIM:600740
has db xref: UMLS:C1833372
type: Class
subclass of: Orphanet_377795
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 405
notation: ORPHA:101050

OBSOLETE: Microlissencephaly type B
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_1083 with label: Microlissencephaly
type: Class
subclass of: obsolete class

Situs inversus totalis
part of: Orphanet_271853
part of: Orphanet 450
tree view: Orphanet_271853
tree view: Orphanet 450
alternative term: Complete situs inversus
alternative term: Complete situs inversus viscerum
alternative term: Situs inversus
has db xref: ICD-10:Q89.3
has db xref: UMLS:C0037221
type: Class
subclass of: Orphanet_377791
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_271853
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 450
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
notation: ORPHA:101063

Congenital stromal corneal dystrophy
part of: Orphanet_98626
tree view: Orphanet_98626
alternative term: CSCD
alternative term: Congenital hereditary stromal dystrophy
alternative term: Witschel dystrophy
definition: 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.
definition citation: orphanet
has db xref: ICD-10:H18.5
has db xref: OMIM:610048
has db xref: UMLS:C1864738
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 6.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98626
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:101068

Bilateral frontoparietal polymicrogyria
part of: Orphanet_268940
tree view: Orphanet_268940
definition: Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
definition citation: orphanet
has db xref: ICD-10:Q04.3
has db xref: OMIM:606854
has db xref: UMLS:C1847352
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268940
notation: ORPHA:101070

Unilateral hemispheric polymicrogyria
part of: Orphanet_268943
tree view: Orphanet_268943
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268943
notation: ORPHA:101071

X-linked Charcot-Marie-Tooth disease type 1
part of: Orphanet_64747
tree view: Orphanet_64747
alternative term: CMT1X
alternative term: CMTX1
definition: X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: MeSH:C535919
has db xref: OMIM:302800
has db xref: UMLS:C0393808
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_64747
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409934
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101075

X-linked Charcot-Marie-Tooth disease type 2
part of: Orphanet_64747
tree view: Orphanet_64747
alternative term: CMTX2
definition: X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:302801
has db xref: UMLS:C1844873
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 5.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_64747
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101076

X-linked Charcot-Marie-Tooth disease type 3
part of: Orphanet_64747
tree view: Orphanet_64747
alternative term: CMT3X
alternative term: CMTX3
definition: X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:302802
has db xref: UMLS:C1844865
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 4.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_64747
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:101077

X-linked Charcot-Marie-Tooth disease type 4
part of: Orphanet_64747
tree view: Orphanet_64747
alternative term: CMT4X
alternative term: CMTX4
alternative term: Cowchock syndrome
definition: X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:310490
has db xref: UMLS:C0795910
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 7.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_64747
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101078

Charcot-Marie-Tooth disease type 1A
part of: Orphanet_262803
part of: Orphanet_65753
tree view: Orphanet_262803
tree view: Orphanet_65753
alternative term: CMT1A
alternative term: Microduplication 17p12
has db xref: ICD-10:G60.0
has db xref: OMIM:118220
has db xref: UMLS:C0270911
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410157
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409978
  intersection of: Restriction
    has value: 82.37
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 15.2
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_262803
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101081

Charcot-Marie-Tooth disease type 1B
part of: Orphanet_65753
tree view: Orphanet_65753
alternative term: CMT1B
definition: age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:118200
has db xref: UMLS:C0270912
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101082

Charcot-Marie-Tooth disease type 1C
part of: Orphanet_65753
tree view: Orphanet_65753
alternative term: CMT1C
has db xref: ICD-10:G60.0
has db xref: MeSH:C537984
has db xref: OMIM:601098
has db xref: UMLS:C0270913
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101083

Charcot-Marie-Tooth disease type 1D
part of: Orphanet_65753
tree view: Orphanet_65753
alternative term: CMT1D
definition: gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: MeSH:C537985
has db xref: OMIM:607678
has db xref: UMLS:C1843247
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101084

Charcot-Marie-Tooth disease type 1F
part of: Orphanet_65753
tree view: Orphanet_65753
alternative term: CMT1F
definition: gene (8p21.2).
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:607734
has db xref: UMLS:C1843164
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101085

X-linked hyper-IgM syndrome
part of: Orphanet_183663
tree view: Orphanet_183663
alternative term: HIGM1
alternative term: Hyper-IgM syndrome due to CD40 ligand deficiency
alternative term: Hyper-IgM syndrome due to CD40L deficiency
alternative term: Hyper-IgM syndrome type 1
alternative term: XHIGM
has db xref: ICD-10:D80.5
has db xref: OMIM:308230
has db xref: UMLS:C0398689
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183663
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
notation: ORPHA:101088

Hyper-IgM syndrome type 2
part of: Orphanet_183666
tree view: Orphanet_183666
alternative term: AID deficiency
alternative term: Activation-induced cytidine deaminase deficiency
alternative term: HIGM2
has db xref: ICD-10:D80.5
has db xref: OMIM:605258
has db xref: UMLS:C1720956
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183666
notation: ORPHA:101089

Hyper-IgM syndrome type 3
part of: Orphanet_183663
tree view: Orphanet_183663
alternative term: HIGM3
alternative term: Hyper-IgM syndrome due to CD40 deficiency
has db xref: ICD-10:D80.5
has db xref: OMIM:606843
has db xref: UMLS:C1720957
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183663
notation: ORPHA:101090

Hyper-IgM syndrome type 4
part of: Orphanet_183666
tree view: Orphanet_183666
alternative term: HIGM4
has db xref: ICD-10:D80.5
has db xref: OMIM:608184
has db xref: UMLS:C1842413
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183666
notation: ORPHA:101091

Hyper-IgM syndrome type 5
part of: Orphanet_183666
tree view: Orphanet_183666
alternative term: HIGM5
alternative term: Hyper-IgM syndrome due to UNG deficiency
alternative term: Hyper-IgM syndrome due to uracil N-glycosylase
has db xref: ICD-10:D80.5
has db xref: OMIM:608106
has db xref: UMLS:C1720958
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183666
notation: ORPHA:101092

Aregenerative anemia
part of: Orphanet_86836
tree view: Orphanet_86836
has db xref: ICD-10:D46.7
has db xref: MedDRA:10054329
has db xref: UMLS:C0002893
has db xref: UMLS:C0553669
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86836
notation: ORPHA:101096

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
part of: Orphanet_91024
tree view: Orphanet_91024
alternative term: ARCMT2K
alternative term: Autosomal recessive axonal CMT4C4
alternative term: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
definition: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: OMIM:607706
has db xref: OMIM:607831
has db xref: UMLS:C1842983
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91024
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:101097

Alopecia-hypogonadism-extrapyramidal syndrome
reason for obsolescence: This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3464 with label: Woodhouse-Sakati syndrome
type: Class
subclass of: obsolete class

Charcot-Marie-Tooth disease type 2B2
part of: Orphanet_91024
tree view: Orphanet_91024
alternative term: AR-CMT2B2
alternative term: Autosomal recessive axonal CMT4C3
alternative term: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
definition: Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: MeSH:C537991
has db xref: OMIM:605589
has db xref: UMLS:C1854150
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91024
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101101

Charcot-Marie-Tooth disease type 2H
part of: Orphanet_91024
tree view: Orphanet_91024
alternative term: AR-CMT2C
alternative term: Autosomal recessive axonal CMT4C2
alternative term: Axonal Charcot-Marie-Tooth disease with pyramidal involvement
alternative term: CMT2H
definition: Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
definition citation: orphanet
has db xref: ICD-10:G60.0
has db xref: MeSH:C535415
has db xref: OMIM:607731
has db xref: UMLS:C1843173
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 13.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91024
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101102

Marin-Amat syndrome
part of: Orphanet_91412
tree view: Orphanet_91412
has db xref: ICD-10:Q07.8
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91412
notation: ORPHA:101104

Non-secreting chemodectoma
part of: Orphanet_94080
tree view: Orphanet_94080
type: Class
subclass of: Orphanet_377796
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94080
notation: ORPHA:101106

Spinocerebellar ataxia type 22
reason for obsolescence: This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98772 with label: Spinocerebellar ataxia type 19/22
type: Class
subclass of: obsolete class

Spinocerebellar ataxia type 23
part of: Orphanet_94145
tree view: Orphanet_94145
alternative term: SCA23
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G11.2
has db xref: MeSH:C537201
has db xref: OMIM:610245
has db xref: UMLS:C1853250
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101108

Spinocerebellar ataxia type 28
part of: Orphanet_35696
part of: Orphanet_94145
tree view: Orphanet_35696
tree view: Orphanet_94145
alternative term: SCA28
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G11.1
has db xref: MeSH:C537205
has db xref: OMIM:610246
has db xref: UMLS:C1853249
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_35696
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:101109

Spinocerebellar ataxia type 20
part of: Orphanet_94145
tree view: Orphanet_94145
alternative term: SCA20
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G11.2
has db xref: MeSH:C537199
has db xref: OMIM:608687
has db xref: UMLS:C1837541
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    has value: 20.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101110

Spinocerebellar ataxia type 25
part of: Orphanet_94145
tree view: Orphanet_94145
alternative term: SCA25
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G11.8
has db xref: MeSH:C537202
has db xref: OMIM:608703
has db xref: UMLS:C1837518
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:101111

Spinocerebellar ataxia type 26
part of: Orphanet_94148
tree view: Orphanet_94148
alternative term: SCA26
definition: Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
definition citation: orphanet
has db xref: ICD-10:G11.2
has db xref: MeSH:C537203
has db xref: OMIM:609306
has db xref: UMLS:C1836395
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94148
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101112

Autosomal recessive dopa-responsive dystonia
part of: Orphanet 255
part of: Orphanet_284818
tree view: Orphanet 255
tree view: Orphanet_284818
alternative term: Autosomal recessive Segawa syndrome
alternative term: DYT5b
alternative term: Tyrosine hydroxylase deficiency
alternative term: Tyrosine hydroxylase-deficient dopa-responsive dystonia
definition: 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) to progressive infantile encephalopathy.
definition citation: orphanet
has db xref: ICD-10:G24.1
has db xref: OMIM:605407
has db xref: UMLS:C2673535
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 255
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_284818
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:101150

Dystonia 14
reason for obsolescence: This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98808 with label: Autosomal dominant dopa-responsive dystonia
type: Class
subclass of: obsolete class

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
part of: Orphanet 982
tree view: Orphanet 982
alternative term: APV/ADA, Fallot type
alternative term: Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
alternative term: PVA/ADA, Fallot type
definition: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.
definition citation: orphanet
has db xref: ICD-10:Q22.2
type: Class
subclass of: Orphanet_377789
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 982
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:101206

Porphyria cutanea tarda
part of: Orphanet_95161
tree view: Orphanet_95161
alternative term: PCT
definition: Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.
definition citation: orphanet
has db xref: ICD-10:E80.1
has db xref: MeSH:D017119
has db xref: MedDRA:10036183
has db xref: OMIM:176090
has db xref: OMIM:176100
has db xref: UMLS:C0162566
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    has value: 0.6
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410157
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410204
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95161
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409931
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:101330

African tick typhus
part of: Spotted fever rickettsiosis
tree view: Spotted fever rickettsiosis
has db xref: ICD-10:A77.1
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Spotted fever rickettsiosis
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
notation: ORPHA:101334

OBSOLETE: Indian tick typhus
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
type: Class
subclass of: obsolete class

OBSOLETE: Kenya tick typhus
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
type: Class
subclass of: obsolete class

OBSOLETE: Marseilles fever
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
type: Class
subclass of: obsolete class

OBSOLETE: Mediterranean spotted fever
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
type: Class
subclass of: obsolete class

Familial isolated congenital asplenia
part of: Non-syndromic visceral malformation
part of: Orphanet_331193
tree view: Non-syndromic visceral malformation
tree view: Orphanet_331193
definition: Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
definition citation: orphanet
has db xref: ICD-10:Q89.0
has db xref: OMIM:271400
type: Class
subclass of: Orphanet_377791
subclass of: Restriction
  on property: part_of
  some values from: Non-syndromic visceral malformation
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_331193
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
notation: ORPHA:101351

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
part of: Orphanet_481771
part of: Orphanet_79364
tree view: Orphanet_481771
tree view: Orphanet_79364
alternative term: Devriendt-Vandenberghe-Fryns syndrome
definition: This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.
definition citation: orphanet
has db xref: OMIM:601217
has db xref: UMLS:C1832593
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481771
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79364
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1014

Rare urogenital disease
type: Class
subclass of: Orphanet_377794
notation: ORPHA:101433

Rare genetic eye disease
alternative term: Rare genetic ophthalmologic disease
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98053
notation: ORPHA:101435

Rare non-syndromic intellectual disability
part of: Orphanet_166472
part of: Orphanet_183757
part of: Orphanet_87277
tree view: Orphanet_166472
tree view: Orphanet_183757
tree view: Orphanet_87277
alternative term: Rare NSID
definition: Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.
definition citation: orphanet
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_166472
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183757
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409934
notation: ORPHA:101685

X-linked diffuse leiomyomatosis-Alport syndrome
part of: Orphanet_263756
part of: Orphanet_93550
tree view: Orphanet_263756
tree view: Orphanet_93550
alternative term: Xq22.3 microdeletion syndrome
definition: The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: OMIM:150700
has db xref: OMIM:308940
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_263756
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93550
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409934
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1018

Epstein syndrome
reason for obsolescence: This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_182050 with label: MYH9-related disease
type: Class
subclass of: obsolete class

Anomaly of the mitral subvalvular apparatus
part of: Orphanet_95464
tree view: Orphanet_95464
has db xref: ICD-10:Q23.8
type: Class
subclass of: Orphanet_377791
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95464
notation: ORPHA:101932

Genetic cardiac rhythm disease
type: Class
subclass of: Orphanet_218436
subclass of: Orphanet_377794
subclass of: Orphanet_98054
notation: ORPHA:101934

Rare gastroesophageal disease
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97935
notation: ORPHA:101936

Rare pancreatic disease
has db xref: UMLS:C0030286
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97935
notation: ORPHA:101937

Rare vascular liver disease
has db xref: UMLS:C0400923
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_57146
notation: ORPHA:101938

Rare parenchymal liver disease
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_57146
notation: ORPHA:101939

Rare metabolic liver disease
has db xref: MedDRA:10019689
has db xref: UMLS:C0851734
type: Class
subclass of: Orphanet_156601
subclass of: Orphanet_377794
subclass of: Orphanet_57146
notation: ORPHA:101940

Rare biliary tract disease
has db xref: UMLS:C0005424
has db xref: UMLS:C0750952
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_57146
notation: ORPHA:101941

Rare hepatic and biliary tract tumor
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_57146
subclass of: Orphanet_98059
notation: ORPHA:101943

Rare pulmonary disease
has db xref: UMLS:C0024115
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97955
notation: ORPHA:101944

Rare bronchopulmonary tumor
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98060
notation: ORPHA:101945

OBSOLETE: Rare acquired eye disease
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_97966 with label: Rare ophthalmic disorder
type: Class
subclass of: obsolete class

Rare eye tumor
has db xref: UMLS:C0015414
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97966
subclass of: Orphanet_98057
notation: ORPHA:101950

Rare diabetes mellitus
has db xref: UMLS:C0011849
has db xref: UMLS:C0011860
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97978
notation: ORPHA:101952

Rare dyslipidemia
has db xref: ICD-10:E78.0
has db xref: ICD-10:E78.1
has db xref: ICD-10:E78.2
has db xref: ICD-10:E78.3
has db xref: ICD-10:E78.4
has db xref: ICD-10:E78.5
has db xref: ICD-10:E78.6
has db xref: ICD-10:E78.8
has db xref: ICD-10:E78.9
has db xref: UMLS:C0242339
type: Class
subclass of: Orphanet_156638
subclass of: Orphanet_309005
subclass of: Orphanet_377794
subclass of: Orphanet_97978
notation: ORPHA:101953

Rare adrenal disease
has db xref: UMLS:C0001621
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97978
notation: ORPHA:101954

Rare thyroid disease
has db xref: UMLS:C0040128
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97978
notation: ORPHA:101955

Polyendocrinopathy
has db xref: ICD-10:E31.0
has db xref: ICD-10:E31.1
has db xref: ICD-10:E31.8
has db xref: ICD-10:E31.9
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97978
notation: ORPHA:101956

Pituitary deficiency
has db xref: ICD-10:E23.0
has db xref: UMLS:C0020635
type: Class
subclass of: Orphanet_181384
subclass of: Orphanet_183628
subclass of: Orphanet_377794
notation: ORPHA:101957

Primary adrenal insufficiency
has db xref: MedDRA:10052381
type: Class
subclass of: Rare adrenal disease
subclass of: Orphanet_377794
notation: ORPHA:101958

Chronic primary adrenal insufficiency
alternative term: CPAI
alternative term: Chronic adrenocorticoid insufficiency
definition: Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
definition citation: orphanet
has db xref: UMLS:C0001403
type: Class
subclass of: Primary adrenal insufficiency
subclass of: Orphanet_377794
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409931
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:101959

Genetic chronic primary adrenal insufficiency
type: Class
subclass of: Chronic primary adrenal insufficiency
subclass of: Orphanet_183637
subclass of: Orphanet_377794
notation: ORPHA:101960

Acquired chronic primary adrenal insufficiency
type: Class
subclass of: Chronic primary adrenal insufficiency
subclass of: Orphanet_377794
notation: ORPHA:101963

Combined T and B cell immunodeficiency
has db xref: ICD-10:D81.0
has db xref: ICD-10:D81.1
has db xref: ICD-10:D81.2
has db xref: ICD-10:D81.3
has db xref: ICD-10:D81.4
has db xref: ICD-10:D81.5
has db xref: ICD-10:D81.6
has db xref: ICD-10:D81.7
has db xref: ICD-10:D81.8
has db xref: ICD-10:D81.9
type: Class
subclass of: Orphanet_179006
subclass of: Orphanet_377794
notation: ORPHA:101972

Immunodeficiency predominantly affecting antibody production
has db xref: ICD-10:D80.0
has db xref: ICD-10:D80.1
has db xref: ICD-10:D80.2
has db xref: ICD-10:D80.3
has db xref: ICD-10:D80.4
has db xref: ICD-10:D80.5
has db xref: ICD-10:D80.6
has db xref: ICD-10:D80.7
has db xref: ICD-10:D80.8
has db xref: ICD-10:D80.9
type: Class
subclass of: Orphanet_179006
subclass of: Orphanet_377794
notation: ORPHA:101977

OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_101977 with label: Immunodeficiency predominantly affecting antibody production
type: Class
subclass of: obsolete class

OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_331232 with label: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
type: Class
subclass of: obsolete class

OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_331240 with label: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
type: Class
subclass of: obsolete class

Quantitative and/or qualitative congenital phagocyte defect
type: Class
subclass of: Primary immunodeficiency due to a defect in innate immunity
subclass of: Orphanet_377794
notation: ORPHA:101985

Constitutional neutropenia
has db xref: ICD-10:D70
type: Class
subclass of: Quantitative and/or qualitative congenital phagocyte defect
subclass of: Orphanet_377794
notation: ORPHA:101987

Primary immunodeficiency due to a defect in innate immunity
type: Class
subclass of: Primary immunodeficiency
subclass of: Orphanet_377794
notation: ORPHA:101988

Immunodeficiency due to a complement cascade protein anomaly
has db xref: ICD-10:D84.1
type: Class
subclass of: Primary immunodeficiency due to a defect in innate immunity
subclass of: Orphanet_377794
notation: ORPHA:101992

Periodic fever syndrome
has db xref: ICD-10:E85.0
has db xref: MedDRA:10034533
has db xref: UMLS:C0015974
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_93665
notation: ORPHA:101995

Primary immunodeficiency
has db xref: MedDRA:10064859
has db xref: UMLS:C0398686
type: Class
subclass of: Orphanet_183770
subclass of: Orphanet_377794
subclass of: Orphanet_98004
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410006
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 5.6
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410066
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 11.0
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410073
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.38
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.79
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410109
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.1
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410147
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 2.6
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410150
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 4.9
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410157
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 6.8
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410158
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 4.5
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410168
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410198
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.6
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410217
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.84
    on property: Orphanet C028
notation: ORPHA:101997

Rare epilepsy
has db xref: ICD-10:G40.0
has db xref: ICD-10:G40.1
has db xref: ICD-10:G40.2
has db xref: ICD-10:G40.3
has db xref: ICD-10:G40.4
has db xref: ICD-10:G40.5
has db xref: ICD-10:G40.6
has db xref: ICD-10:G40.7
has db xref: ICD-10:G40.8
has db xref: ICD-10:G40.9
has db xref: UMLS:C0014544
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98006
notation: ORPHA:101998

Multiple system atrophy
part of: Orphanet_182058
part of: Orphanet_182070
part of: Orphanet_306695
tree view: Orphanet_182058
tree view: Orphanet_182070
tree view: Orphanet_306695
alternative term: MSA
alternative term: Multisystem atrophy
definition: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
definition citation: orphanet
has db xref: ICD-10:G90.3
has db xref: MeSH:D019578
has db xref: MedDRA:10064060
has db xref: OMIM:146500
has db xref: UMLS:C0393571
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.7
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410174
  intersection of: Restriction
    has value: 0.11
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410225
  intersection of: Restriction
    has value: 0.6
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410204
  intersection of: Restriction
    has value: 2.1
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.7
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.5
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410063
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 2.3
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410092
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.4
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 4.9
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410102
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 4.4
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182058
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182070
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306695
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409931
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:102

Early-onset autosomal dominant Alzheimer disease
part of: Orphanet_183500
part of: Orphanet_276058
part of: Orphanet_98534
tree view: Orphanet_183500
tree view: Orphanet_276058
tree view: Orphanet_98534
alternative term: EOFAD
alternative term: Early-onset familial autosomal dominant Alzheimer disease
alternative term: Familial Alzheimer disease
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G30.0
has db xref: OMIM:104300
has db xref: OMIM:104310
has db xref: OMIM:602096
has db xref: OMIM:605055
has db xref: OMIM:605526
has db xref: OMIM:606187
has db xref: OMIM:606889
has db xref: OMIM:607116
has db xref: OMIM:607822
has db xref: OMIM:609636
has db xref: OMIM:609790
has db xref: OMIM:611073
has db xref: OMIM:611152
has db xref: OMIM:611154
has db xref: OMIM:611155
has db xref: UMLS:C0276496
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183500
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_276058
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98534
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:1020

Medullar disease
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98006
notation: ORPHA:102000

Rare ataxia
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98006
notation: ORPHA:102002

Rare movement disorder
has db xref: UMLS:C0026650
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98006
notation: ORPHA:102003

Brain inflammatory disease
type: Class
subclass of: Orphanet_182064
subclass of: Orphanet_377794
notation: ORPHA:102005

Neurovascular malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_71281
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:102006

Classic lissencephaly
alternative term: Lissencephaly type 1
has db xref: ICD-10:Q04.3
has db xref: UMLS:C0431375
has db xref: UMLS:C1843916
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_48471
notation: ORPHA:102009

Other syndrome with lissencephaly as a major feature
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_48471
notation: ORPHA:102010

Lissencephaly type 3
has db xref: ICD-10:Q04.3
has db xref: UMLS:C1969029
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_48471
notation: ORPHA:102011

Pure hereditary spastic paraplegia
alternative term: Pure HSP
alternative term: Pure SPG
alternative term: Pure familial spastic paraplegia
alternative term: Uncomplicated HSP
alternative term: Uncomplicated SPG
alternative term: Uncomplicated familial spastic paraplegia
alternative term: Uncomplicated hereditary spastic paraplegia
has db xref: ICD-10:G11.4
has db xref: UMLS:C0393555
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet 685
notation: ORPHA:102012

Complex hereditary spastic paraplegia
alternative term: Complex HSP
alternative term: Complex SPG
alternative term: Complex familial spastic paraplegia
alternative term: Complicated HSP
alternative term: Complicated SPG
alternative term: Complicated familial spastic paraplegia
alternative term: Complicated hereditary spastic paraplegia
has db xref: ICD-10:G11.4
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet 685
notation: ORPHA:102013

Autosomal dominant limb-girdle muscular dystrophy
has db xref: ICD-10:G71.0
type: Class
subclass of: Orphanet 263
subclass of: Orphanet_377794
notation: ORPHA:102014

Autosomal recessive limb-girdle muscular dystrophy
has db xref: ICD-10:G71.0
has db xref: UMLS:C2931907
type: Class
subclass of: Orphanet 263
subclass of: Orphanet_377794
notation: ORPHA:102015

Autosomal monosomy
alternative term: Autosomal deletion
has db xref: ICD-10:Q93.0
has db xref: ICD-10:Q93.1
has db xref: ICD-10:Q93.2
has db xref: ICD-10:Q93.3
has db xref: ICD-10:Q93.4
has db xref: ICD-10:Q93.5
has db xref: ICD-10:Q93.6
has db xref: ICD-10:Q93.7
has db xref: ICD-10:Q93.8
has db xref: ICD-10:Q93.9
has db xref: UMLS:C0026499
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98127
notation: ORPHA:102020

Rickettsial disease
alternative term: Rickettsiae disease
has db xref: UMLS:C0035585
type: Class
subclass of: Orphanet_163582
subclass of: Orphanet_377794
notation: ORPHA:102021

Spotted fever rickettsiosis
alternative term: Spotted fever rickettsiae disease
has db xref: ICD-10:A77.0
has db xref: ICD-10:A77.1
has db xref: ICD-10:A77.2
has db xref: ICD-10:A77.3
has db xref: ICD-10:A77.8
has db xref: ICD-10:A77.9
type: Class
subclass of: Rickettsial disease
subclass of: Orphanet_377794
notation: ORPHA:102022

Typhus-group rickettsiosis
alternative term: Typhus-group rickettsiae disease
has db xref: ICD-10:A75.0
has db xref: ICD-10:A75.1
has db xref: ICD-10:A75.2
has db xref: ICD-10:A75.3
has db xref: ICD-10:A75.9
has db xref: UMLS:C0343758
type: Class
subclass of: Rickettsial disease
subclass of: Orphanet_377794
notation: ORPHA:102023

Human herpesvirus 8-related disorder
alternative term: HHV-8-related disorder
type: Class
subclass of: Orphanet_289635
subclass of: Orphanet_377794
notation: ORPHA:102024

OBSOLETE: Nuclear cell envelopathy
type: Class
subclass of: obsolete class

OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_314709 with label: Primary localized amyloidosis
type: Class
subclass of: obsolete class

Amaurosis-hypertrichosis syndrome
part of: Orphanet_519325
part of: Orphanet_79365
tree view: Orphanet_519325
tree view: Orphanet_79365
definition: Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
definition citation: orphanet
has db xref: ICD-10:H35.5
has db xref: MeSH:C536604
has db xref: OMIM:204110
has db xref: UMLS:C1857588
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519325
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79365
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1021

Unexplained periodic fever syndrome
has db xref: ICD-10:E85.0
type: Class
subclass of: Periodic fever syndrome
subclass of: Orphanet_377794
notation: ORPHA:102237

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
alternative term: MCA/MR
alternative term: Multiple congenital anomalies-intellectual disability with or without dysmorphism
type: Class
subclass of: Orphanet_183533
subclass of: Orphanet_377794
subclass of: Orphanet_68341
notation: ORPHA:102283

Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
alternative term: MCA/variable MR
alternative term: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_68341
notation: ORPHA:102284

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
alternative term: MCA without intellectual disability
alternative term: Multiple congenital anomalies without intellectual disability with or without dysmorphism
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_68341
notation: ORPHA:102285

Congenital generalized hypertrichosis, Ambras type
part of: Orphanet 2222
tree view: Orphanet 2222
alternative term: Ambras syndrome
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q84.2
has db xref: MeSH:C536605
has db xref: OMIM:145701
has db xref: UMLS:C1840362
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 40.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2222
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1023

Rare syndromic intellectual disability
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_87277
notation: ORPHA:102369

Primary glomerular disease
type: Class
subclass of: Orphanet_183586
subclass of: Orphanet_377794
subclass of: Orphanet_93548
notation: ORPHA:102373

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
part of: Orphanet_86846
tree view: Orphanet_86846
alternative term: AML and myelodysplastic syndromes related to alkylating agent
definition: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).
definition citation: orphanet
has db xref: ICD-10:C92.8
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86846
notation: ORPHA:102379

Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
part of: Orphanet_86846
tree view: Orphanet_86846
alternative term: AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
definition: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.
definition citation: orphanet
has db xref: ICD-10:C92.0
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86846
notation: ORPHA:102381

Autosomal recessive amelia
part of: Orphanet_294957
tree view: Orphanet_294957
definition: Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.
definition citation: orphanet
has db xref: ICD-10:Q73.0
has db xref: OMIM:601360
has db xref: UMLS:C1832432
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294957
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1027

Acute myeloid leukemia with t(8;21)(q22;q22) translocation
part of: Orphanet_98277
tree view: Orphanet_98277
alternative term: AML with t(8;21)(q22;q22) translocation
has db xref: ICD-10:C92.0
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409979
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98277
notation: ORPHA:102724

Ameloonychohypohidrotic syndrome
part of: Orphanet_79373
tree view: Orphanet_79373
has db xref: ICD-10:Q82.4
has db xref: MeSH:C538245
has db xref: OMIM:104570
has db xref: UMLS:C1863006
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409951
notation: ORPHA:1028

OBSOLETE: Genetic optic atrophy
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_98671 with label: Hereditary optic neuropathy
type: Class
subclass of: obsolete class

Enamel-renal syndrome
part of: Orphanet_139042
part of: Orphanet_183580
part of: Orphanet_93593
tree view: Orphanet_139042
tree view: Orphanet_183580
tree view: Orphanet_93593
alternative term: Amelogenesis imperfecta-nephrocalcinosis syndrome
definition: 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.
definition citation: orphanet
has db xref: ICD-10:K00.5
has db xref: MeSH:C538241
has db xref: OMIM:204690
has db xref: UMLS:C0403549
has db xref: UMLS:C2931783
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 11.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139042
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183580
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93593
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1031

Hyperdibasic aminoaciduria type 1
part of: Orphanet_79166
tree view: Orphanet_79166
definition: Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.
definition citation: orphanet
has db xref: ICD-10:E72.0
has db xref: OMIM:222690
has db xref: UMLS:C2673736
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 26.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79166
notation: ORPHA:1032

OBSOLETE: Amniotic bands
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_498461 with label: Terminal transverse limb defect
type: Class
subclass of: obsolete class

Beta-mercaptolactate cysteine disulfiduria
part of: Orphanet_447874
part of: Orphanet_79173
tree view: Orphanet_447874
tree view: Orphanet_79173
alternative term: 3-mercaptopyruvate sulfurtransferase deficiency
alternative term: Ampola syndrome
alternative term: MCDU
has db xref: ICD-10:E72.1
has db xref: OMIM:249650
has db xref: UMLS:C0796055
type: Class
subclass of: Orphanet_377790
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_447874
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79173
notation: ORPHA:1035

Arthrogryposis multiplex congenita
alternative term: AMC
alternative term: Multiple congenital arthrogryposis
definition: Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
definition citation: orphanet
has db xref: ICD-10:Q74.3
has db xref: MeSH:C536613
has db xref: MedDRA:10051643
has db xref: UMLS:C2931264
type: Class
subclass of: Arthrogryposis syndrome
subclass of: Orphanet_377794
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 5.7
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410006
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 8.3
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410031
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1037

Chronic diarrhea due to glucoamylase deficiency
part of: Congenital intestinal disease due to an enzymatic defect
part of: Orphanet_309001
tree view: Congenital intestinal disease due to an enzymatic defect
tree view: Orphanet_309001
alternative term: Maltase-glucoamylase deficiency
definition: This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.
definition citation: orphanet
has db xref: ICD-10:E74.3
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Congenital intestinal disease due to an enzymatic defect
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:103907

Congenital sodium diarrhea
part of: Congenital intestinal transport defect
tree view: Congenital intestinal transport defect
alternative term: Na-H exchange deficiency
definition: Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
definition citation: orphanet
has db xref: ICD-10:P78.3
has db xref: OMIM:270420
has db xref: OMIM:616868
has db xref: UMLS:C0267663
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 15.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Congenital intestinal transport defect
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
notation: ORPHA:103908

Trehalase deficiency
part of: Congenital intestinal disease due to an enzymatic defect
part of: Orphanet_309001
tree view: Congenital intestinal disease due to an enzymatic defect
tree view: Orphanet_309001
alternative term: Isolated trehalose intolerance
definition: This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.
definition citation: orphanet
has db xref: ICD-10:E74.3
has db xref: OMIM:612119
has db xref: UMLS:C0268187
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409980
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Congenital intestinal disease due to an enzymatic defect
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_309001
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
notation: ORPHA:103909

Congenital enterocyte heparan sulfate deficiency
part of: Congenital enteropathy involving intestinal mucosa development
tree view: Congenital enteropathy involving intestinal mucosa development
definition: Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life.
definition citation: orphanet
has db xref: ICD-10:P78.3
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Congenital enteropathy involving intestinal mucosa development
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:103910

OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome
type: Class
subclass of: obsolete class

OBSOLETE: Immunoproliferative small intestinal disease
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_100025 with label: Alpha-heavy chain disease
type: Class
subclass of: obsolete class

OBSOLETE: Autoimmune enteropathy type 2
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_522043 with label: Syndromic autoimmune enteropathy
type: Class
subclass of: obsolete class

OBSOLETE: Autoimmune enteropathy type 3
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_522043 with label: Syndromic autoimmune enteropathy
type: Class
subclass of: obsolete class

Tropical pancreatitis
part of: Rare pancreatic disease
tree view: Rare pancreatic disease
alternative term: TCP
alternative term: Tropical calcific chronic pancreatitis
definition: Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.
definition citation: orphanet
has db xref: ICD-10:K86.1
has db xref: OMIM:608189
has db xref: UMLS:C1842402
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Rare pancreatic disease
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:103918

Autoimmune pancreatitis
part of: Rare pancreatic disease
part of: Orphanet_284264
tree view: Rare pancreatic disease
tree view: Orphanet_284264
alternative term: AIP
definition: Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP (see this term) which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP (see this term) which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.
definition citation: orphanet
has db xref: ICD-10:K86.1
has db xref: MedDRA:10069002
has db xref: UMLS:C2609129
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Rare pancreatic disease
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_284264
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
notation: ORPHA:103919

Undetermined colitis
part of: Rare inflammatory bowel disease
tree view: Rare inflammatory bowel disease
definition: Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohns disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.
definition citation: orphanet
has db xref: ICD-10:K52.3
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Rare inflammatory bowel disease
notation: ORPHA:103920

Leber hereditary optic neuropathy
part of: Orphanet_217587
part of: Orphanet_217613
part of: Orphanet_254776
part of: Orphanet_98671
tree view: Orphanet_217587
tree view: Orphanet_217613
tree view: Orphanet_254776
tree view: Orphanet_98671
alternative term: LHON
alternative term: Leber optic atrophy
definition: 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.
definition citation: orphanet
has db xref: ICD-10:H47.2
has db xref: OMIM:308905
has db xref: OMIM:535000
has db xref: UMLS:C0917796
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 2.3
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 4.3
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410065
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410147
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 2.6
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.22
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217587
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217613
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_254776
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98671
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409933
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:104

Metaphyseal anadysplasia
part of: Orphanet_93430
tree view: Orphanet_93430
alternative term: Maroteaux-Verloes-Stanescu syndrome
alternative term: Regressive metaphyseal dysplasia
definition: Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
definition citation: orphanet
has db xref: ICD-10:Q78.5
has db xref: MeSH:C537351
has db xref: OMIM:602111
has db xref: OMIM:613073
has db xref: UMLS:C0432226
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93430
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1040

Congenital intestinal transport defect
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_377794
notation: ORPHA:104003

Intestinal disease due to vitamin absorption anomaly
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_377794
notation: ORPHA:104004

Intestinal disease due to fat malabsorption
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_377794
notation: ORPHA:104005

Congenital intestinal disease due to an enzymatic defect
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_377794
notation: ORPHA:104006

Congenital enteropathy involving intestinal mucosa development
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_377794
notation: ORPHA:104007

Short bowel syndrome
definition: Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
definition citation: orphanet
has db xref: MeSH:D012778
has db xref: MedDRA:10049416
has db xref: UMLS:C0036992
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_377794
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.4
    on property: Orphanet C028
notation: ORPHA:104008

Rare disease involving intestinal motility
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_377794
notation: ORPHA:104009

Intestinal polyposis syndrome
has db xref: MeSH:D044483
has db xref: MedDRA:10057018
has db xref: UMLS:C0345891
has db xref: UMLS:C1257915
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_425003
notation: ORPHA:104010

Rare tumor of intestine
alternative term: Rare intestinal tumor
alternative term: Rare tumor of bowel
has db xref: UMLS:C0021841
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_377794
subclass of: Orphanet_98059
notation: ORPHA:104011

Rare inflammatory bowel disease
has db xref: UMLS:C0021390
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_377794
notation: ORPHA:104012

Metabolic disease with intestinal involvement
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_377794
notation: ORPHA:104013

Adenocarcinoma of the small instestine
part of: Orphanet_423957
tree view: Orphanet_423957
alternative term: Adenocarcinoma of the small bowel
definition: Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.
definition citation: orphanet
has db xref: ICD-10:D01.4
has db xref: UMLS:C0278803
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    has value: 0.57
    on property: Orphanet C032
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423957
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:104075

Leiomyosarcoma of small intestine
part of: Orphanet_423798
tree view: Orphanet_423798
definition: Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.
definition citation: orphanet
has db xref: ICD-10:C17.0
has db xref: ICD-10:C17.1
has db xref: ICD-10:C17.2
has db xref: ICD-10:C17.3
has db xref: ICD-10:C17.8
has db xref: UMLS:C0920305
type: Class
subclass of: Orphanet_377788
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423798
notation: ORPHA:104076

Myopathic intestinal pseudoobstruction
part of: Orphanet 2978
tree view: Orphanet 2978
has db xref: ICD-10:K59.8
type: Class
subclass of: Orphanet_377795
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2978
notation: ORPHA:104077

Unclassified intestinal pseudoobstruction
part of: Orphanet 2978
tree view: Orphanet 2978
has db xref: ICD-10:K59.8
type: Class
subclass of: Orphanet_377795
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2978
notation: ORPHA:104078

Hydrops fetalis
part of: Orphanet_93890
tree view: Orphanet_93890
alternative term: Fetal anasarca
alternative term: Fetal hydrops
alternative term: Generalized fetal edema
alternative term: HF
definition: Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).
definition citation: orphanet
has db xref: ICD-10:P56.0
has db xref: ICD-10:P56.9
has db xref: ICD-10:P83.2
has db xref: MeSH:D015160
has db xref: MedDRA:10020529
has db xref: OMIM:236750
has db xref: UMLS:C0020305
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410097
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409980
  intersection of: Restriction
    has value: 134.0
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410210
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409980
  intersection of: Restriction
    has value: 180.0
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410217
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409980
  intersection of: Restriction
    has value: 380.0
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93890
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1041

OBSOLETE: Anemia due to adenosine triphosphatase deficiency
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_98369 with label: Rare constitutional hemolytic anemia due to an enzyme disorder
type: Class
subclass of: obsolete class

Lethal hemolytic anemia-genital anomalies syndrome
part of: Orphanet_165707
part of: Orphanet_182043
tree view: Orphanet_165707
tree view: Orphanet_182043
alternative term: Water-West syndrome
definition: Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.
definition citation: orphanet
has db xref: ICD-10:D58.8
has db xref: OMIM:600461
has db xref: UMLS:C1838120
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_165707
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182043
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1046

Sideroblastic anemia
definition: Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).
definition citation: orphanet
has db xref: ICD-10:D64.0
has db xref: ICD-10:D64.1
has db xref: ICD-10:D64.2
has db xref: ICD-10:D64.3
has db xref: MeSH:D000756
has db xref: MedDRA:10040661
has db xref: UMLS:C0002896
type: Class
subclass of: Rare anemia
subclass of: Orphanet_377794
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409933
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409934
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:1047

Isolated anencephaly/exencephaly
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_268357
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_268357
definition: Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
definition citation: orphanet
has db xref: ICD-10:Q00.0
has db xref: OMIM:206500
type: Class
subclass of: Orphanet_377791
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 35.0
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410095
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409980
  intersection of: Restriction
    has value: 120.0
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410191
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 58.0
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410210
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410225
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 20.6
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268357
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409931
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1048

Atresia of urethra
part of: Orphanet_435365
tree view: Orphanet_435365
alternative term: Urethral atresia
definition: Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.
definition citation: orphanet
has db xref: ICD-10:Q64.3
has db xref: MedDRA:10064895
has db xref: UMLS:C0345345
has db xref: UMLS:C1610065
type: Class
subclass of: Orphanet_377791
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_435365
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:105

Ramos-Arroyo syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_519325
part of: Orphanet_90642
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_519325
tree view: Orphanet_90642
alternative term: Corneal anesthesia-deafness-intellectual disability syndrome
definition: Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: OMIM:122430
has db xref: UMLS:C2930866
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 6.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519325
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1051

Mosaic variegated aneuploidy syndrome
part of: Orphanet_183422
part of: Orphanet_68335
part of: Orphanet_98638
part of: Orphanet_98642
tree view: Orphanet_183422
tree view: Orphanet_68335
tree view: Orphanet_98638
tree view: Orphanet_98642
alternative term: Warburton-Anyane-Yeboa syndrome
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q99.8
has db xref: MeSH:C536987
has db xref: OMIM:257300
has db xref: OMIM:614114
has db xref: OMIM:617598
has db xref: UMLS:C1850343
has db xref: UMLS:C2931286
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 41.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183422
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98638
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98642
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1052

Vein of Galen aneurysm
part of: Neurovascular malformation
part of: Orphanet_211266
tree view: Neurovascular malformation
tree view: Orphanet_211266
alternative term: Vein of Galen arteriovenous malformations
definition: Vein of Galen aneurysmal malformation (VGAM) is a congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.
definition citation: orphanet
has db xref: ICD-10:Q28.2
has db xref: MeSH:C536535
has db xref: UMLS:C0431420
type: Class
subclass of: Orphanet_377791
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Neurovascular malformation
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_211266
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1053

Aneurysm of sinus of Valsalva
part of: Orphanet_98725
tree view: Orphanet_98725
definition: Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.
definition citation: orphanet
has db xref: ICD-10:Q25.4
type: Class
subclass of: Orphanet_377791
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98725
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:1054

OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_285014 with label: Rare disease with thoracic aortic aneurysm and aortic dissection
type: Class
subclass of: obsolete class

Blue rubber bleb nevus
part of: Orphanet_140162
part of: Orphanet_183478
part of: Orphanet_211252
part of: Orphanet_459548
part of: Orphanet_79379
tree view: Orphanet_140162
tree view: Orphanet_183478
tree view: Orphanet_211252
tree view: Orphanet_459548
tree view: Orphanet_79379
alternative term: BRBN
alternative term: Bean syndrome
definition: Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
definition citation: orphanet
has db xref: ICD-10:Q27.8
has db xref: MeSH:C536240
has db xref: OMIM:112200
has db xref: UMLS:C0346072
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 200.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_140162
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183478
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_211252
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_459548
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79379
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1059

Systemic cystic angiomatosis-Seip syndrome
reason for obsolescence: This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_528 with label: Berardinelli-Seip congenital lipodystrophy
type: Class
subclass of: obsolete class

Hereditary neurocutaneous malformation
part of: Neurovascular malformation
part of: Orphanet_166487
part of: Orphanet_211237
part of: Orphanet_371436
part of: Orphanet_459543
part of: Orphanet_98196
tree view: Neurovascular malformation
tree view: Orphanet_166487
tree view: Orphanet_211237
tree view: Orphanet_371436
tree view: Orphanet_459543
tree view: Orphanet_98196
definition: Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.
definition citation: orphanet
has db xref: ICD-10:D18.0
has db xref: MeSH:C536364
has db xref: OMIM:106070
has db xref: UMLS:C1275084
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 9.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Neurovascular malformation
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_166487
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_211237
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_371436
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_459543
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98196
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1062

Tufted angioma
part of: Orphanet_211237
part of: Orphanet_459543
tree view: Orphanet_211237
tree view: Orphanet_459543
alternative term: Nakagawa angioblastoma
definition: Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.
definition citation: orphanet
has db xref: ICD-10:D18.0
has db xref: MeSH:C536924
has db xref: OMIM:607859
has db xref: UMLS:C0346073
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_211237
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_459543
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409931
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1063

Aniridia-renal agenesis-psychomotor retardation syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_522520
part of: Orphanet_93547
part of: Orphanet_98557
part of: Orphanet_98638
part of: Orphanet_98683
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_522520
tree view: Orphanet_93547
tree view: Orphanet_98557
tree view: Orphanet_98638
tree view: Orphanet_98683
alternative term: Sommer-Rathbun-Battles syndrome
definition: Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C536371
has db xref: OMIM:206750
has db xref: UMLS:C1859782
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522520
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98638
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98683
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1064

Aniridia-cerebellar ataxia-intellectual disability syndrome
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_98557
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_98557
alternative term: Gillespie syndrome
definition: Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.
definition citation: orphanet
has db xref: ICD-10:G11.0
has db xref: OMIM:206700
has db xref: UMLS:C0431401
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 22.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1065

Aniridia-ptosis-intellectual disability-familial obesity syndrome
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_519286
part of: Orphanet_522568
part of: Orphanet_98557
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_519286
tree view: Orphanet_522568
tree view: Orphanet_98557
definition: Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
definition citation: orphanet
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519286
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522568
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1067

Aniridia-intellectual disability syndrome
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_519292
part of: Orphanet_522548
part of: Orphanet_522554
part of: Orphanet_98557
part of: Orphanet_98641
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_519292
tree view: Orphanet_522548
tree view: Orphanet_522554
tree view: Orphanet_98557
tree view: Orphanet_98641
alternative term: Walker-Dyson syndrome
definition: Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974.
definition citation: orphanet
has db xref: MeSH:C536568
has db xref: UMLS:C2931243
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519292
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522548
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522554
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98641
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1068

Aniridia-absent patella syndrome
part of: Orphanet_98557
part of: Orphanet_98638
tree view: Orphanet_98557
tree view: Orphanet_98638
definition: Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: OMIM:106220
has db xref: UMLS:C1862868
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98638
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1069

BOR syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
part of: Orphanet_139036
part of: Orphanet_156202
part of: Orphanet_156237
part of: Orphanet_183576
part of: Orphanet_330206
part of: Orphanet_90642
part of: Orphanet_93547
tree view: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
tree view: Orphanet_139036
tree view: Orphanet_156202
tree view: Orphanet_156237
tree view: Orphanet_183576
tree view: Orphanet_330206
tree view: Orphanet_90642
tree view: Orphanet_93547
alternative term: Branchiootorenal syndrome
definition: Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:D019280
has db xref: MedDRA:10071135
has db xref: OMIM:113650
has db xref: OMIM:610896
has db xref: UMLS:C0265234
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410031
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 2.5
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139036
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156202
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156237
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183576
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:107

Anisakiasis
part of: Orphanet_163588
tree view: Orphanet_163588
definition: , present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).
definition citation: orphanet
has db xref: ICD-10:B81.0
has db xref: MeSH:D017129
has db xref: MedDRA:10002533
has db xref: UMLS:C0162576
has db xref: UMLS:C2711591
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 0.32
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409977
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410102
  intersection of: Restriction
    has value: 1.6
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_163588
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409949
notation: ORPHA:1070

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
part of: Orphanet_156237
part of: Orphanet_294955
part of: Orphanet_404574
part of: Orphanet_79373
part of: Orphanet_98565
tree view: Orphanet_156237
tree view: Orphanet_294955
tree view: Orphanet_404574
tree view: Orphanet_79373
tree view: Orphanet_98565
alternative term: AEC syndrome
alternative term: Hay-Wells syndrome
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q82.4
has db xref: MeSH:C535289
has db xref: OMIM:106260
has db xref: UMLS:C1785148
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156237
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294955
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_404574
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98565
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1071

Ankyloblepharon filiforme adnatum-cleft palate syndrome
part of: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
tree view: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
definition: Ankyloblepharon filiforme adnatum-cleft palate syndrome is a rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.
definition citation: orphanet
has db xref: ICD-10:Q87.0
has db xref: MeSH:C536373
has db xref: OMIM:106250
has db xref: UMLS:C1302999
has db xref: UMLS:C1862866
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1072

Ankyloblepharon filiforme adnatum-imperforate anus syndrome
part of: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
tree view: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
alternative term: Aughton-Hufnagle syndrome
definition: Ankyloblepharon filiforme adnatum-imperforate anus syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
definition citation: orphanet
has db xref: ICD-10:Q87.8
type: Class
subclass of: Orphanet_377796
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1074

Dental ankylosis
part of: Orphanet_164001
part of: Orphanet_420755
tree view: Orphanet_164001
tree view: Orphanet_420755
alternative term: Ankylosis of teeth
definition: Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.
definition citation: orphanet
has db xref: ICD-10:K03.5
has db xref: MeSH:D020254
has db xref: MedDRA:10044019
has db xref: UMLS:C0155930
has db xref: UMLS:C2931182
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_164001
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_420755
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1077

Thumb stiffness-brachydactyly-intellectual disability syndrome
part of: Orphanet_498454
tree view: Orphanet_498454
alternative term: Piussan-Lenaerts-Mathieu syndrome
definition: Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.
definition citation: orphanet
has db xref: ICD-10:Q87.2
has db xref: MeSH:C537511
has db xref: OMIM:188201
has db xref: UMLS:C2931515
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 6.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498454
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1078

Babesiosis
part of: Orphanet_163588
tree view: Orphanet_163588
definition: and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.
definition citation: orphanet
has db xref: ICD-10:B60.0
has db xref: MeSH:D001404
has db xref: MedDRA:10003965
has db xref: UMLS:C0004576
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_163588
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:108

Coronary artery congenital malformation
has db xref: ICD-10:Q24.5
has db xref: MedDRA:10061060
has db xref: UMLS:C0158623
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_88991
notation: ORPHA:1081

Microlissencephaly
part of: Orphanet_199639
part of: Orphanet_269573
part of: Orphanet_48471
tree view: Orphanet_199639
tree view: Orphanet_269573
tree view: Orphanet_48471
definition: Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
definition citation: orphanet
has db xref: ICD-10:Q04.3
has db xref: OMIM:614019
has db xref: OMIM:616212
has db xref: UMLS:C1956147
type: Class
subclass of: Orphanet_377791
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_199639
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_269573
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_48471
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1083

Isolated lissencephaly type 1 without known genetic defects
part of: Classic lissencephaly
tree view: Classic lissencephaly
definition: Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
definition citation: orphanet
has db xref: ICD-10:Q04.3
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Classic lissencephaly
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1084

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_102284 with label: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
type: Class
subclass of: obsolete class

Non-syndromic esophageal malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_88993
notation: ORPHA:108959

Syndromic esophageal malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_88993
notation: ORPHA:108961

Non-syndromic gastroduodenal malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97944
notation: ORPHA:108963

Syndromic gastroduodenal malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97944
notation: ORPHA:108965

Non-syndromic intestinal malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97945
notation: ORPHA:108967

Syndromic intestinal malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97945
notation: ORPHA:108969

Non-syndromic visceral malformation
type: Class
subclass of: Orphanet_183548
subclass of: Orphanet_377794
subclass of: Orphanet_98041
notation: ORPHA:108971

Syndromic visceral malformation
type: Class
subclass of: Orphanet_183548
subclass of: Orphanet_377794
subclass of: Orphanet_98041
notation: ORPHA:108973

Non-syndromic diaphragmatic or abdominal wall malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98043
notation: ORPHA:108977

Syndromic diaphragmatic or abdominal wall malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98043
notation: ORPHA:108979

Non-syndromic central nervous system malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98044
notation: ORPHA:108989

Syndrome with a central nervous system malformation as major feature
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_98044
notation: ORPHA:108991

Non-syndromic respiratory or mediastinal malformation
type: Class
subclass of: Orphanet_183554
subclass of: Orphanet_377794
subclass of: Orphanet_97962
subclass of: Orphanet_98045
notation: ORPHA:108993

Syndromic respiratory or mediastinal malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97962
subclass of: Orphanet_98045
notation: ORPHA:108995

Rare anemia
has db xref: UMLS:C0002871
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97992
notation: ORPHA:108997

Rare disorder due to toxic effects
type: Class
subclass of: Orphanet_377794
notation: ORPHA:108999

Bannayan-Riley-Ruvalcaba syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Rare syndromic intellectual disability
part of: Intestinal polyposis syndrome
part of: Orphanet_183763
part of: Orphanet_211277
part of: Orphanet_306498
part of: Orphanet_363314
part of: Orphanet_459537
part of: Orphanet_93460
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Rare syndromic intellectual disability
tree view: Intestinal polyposis syndrome
tree view: Orphanet_183763
tree view: Orphanet_211277
tree view: Orphanet_306498
tree view: Orphanet_363314
tree view: Orphanet_459537
tree view: Orphanet_93460
alternative term: BRRS
alternative term: Myhre-Riley-Smith syndrome
definition: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: OMIM:158350
has db xref: UMLS:C0265326
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Intestinal polyposis syndrome
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_211277
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306498
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_363314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_459537
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93460
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:109

Arthrogryposis syndrome
has db xref: ICD-10:Q68.8
has db xref: MeSH:D001176
has db xref: UMLS:C0003886
type: Class
subclass of: Syndrome with limb malformations as a major feature
subclass of: Orphanet_377794
subclass of: Orphanet_404577
notation: ORPHA:109007

Syndrome with limb malformations as a major feature
has db xref: ICD-10:Q87.2
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_68378
notation: ORPHA:109009

Non-syndromic limb malformation
type: Class
subclass of: Orphanet_183536
subclass of: Orphanet_377794
subclass of: Orphanet_68378
notation: ORPHA:109011

Anonychia-microcephaly syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
part of: Orphanet_330206
tree view: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
tree view: Orphanet_330206
alternative term: Teebi-Kaurah syndrome
definition: Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C536948
has db xref: OMIM:607214
has db xref: UMLS:C2931373
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 4.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1094

Pentasomy X
part of: Orphanet_263723
tree view: Orphanet_263723
alternative term: 49,XXXXX syndrome
alternative term: Penta-X
alternative term: Poly-X
definition: Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
definition citation: orphanet
has db xref: ICD-10:Q97.1
has db xref: MeSH:C535319
has db xref: UMLS:C0265497
has db xref: UMLS:C2937419
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_263723
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:11

Bardet-Biedl syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
part of: Rare disease involving intestinal motility
part of: Orphanet_181387
part of: Orphanet_240371
part of: Orphanet_330197
part of: Orphanet_399846
part of: Orphanet_93587
part of: Orphanet_98661
tree view: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
tree view: Rare disease involving intestinal motility
tree view: Orphanet_181387
tree view: Orphanet_240371
tree view: Orphanet_330197
tree view: Orphanet_399846
tree view: Orphanet_93587
tree view: Orphanet_98661
alternative term: BBS
definition: Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:D020788
has db xref: MedDRA:10056715
has db xref: OMIM:209900
has db xref: OMIM:600151
has db xref: OMIM:605231
has db xref: OMIM:615981
has db xref: OMIM:615982
has db xref: OMIM:615983
has db xref: OMIM:615984
has db xref: OMIM:615985
has db xref: OMIM:615986
has db xref: OMIM:615987
has db xref: OMIM:615988
has db xref: OMIM:615989
has db xref: OMIM:615990
has db xref: OMIM:615991
has db xref: OMIM:615992
has db xref: OMIM:615993
has db xref: OMIM:615994
has db xref: OMIM:615995
has db xref: OMIM:615996
has db xref: OMIM:617119
has db xref: OMIM:617406
has db xref: UMLS:C0752166
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.7
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.5
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409992
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 5.6
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409992
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 7.4
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410205
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410216
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.64
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.8
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410225
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
subclass of: Restriction
  on property: part_of
  some values from: Rare disease involving intestinal motility
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_181387
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_240371
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330197
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_399846
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93587
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98661
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409936
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:110

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
part of: Orphanet_330206
tree view: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
tree view: Orphanet_330206
alternative term: Cassia Stocco dos Santos syndrome
definition: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
definition citation: orphanet
has db xref: ICD-10:Q87.8
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1101

Anophthalmia-hypothalamo-pituitary insufficiency syndrome
reason for obsolescence: This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia spectrum
type: Class
subclass of: obsolete class

Anophthalmia plus syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
part of: Orphanet_330206
tree view: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
tree view: Orphanet_330206
alternative term: Fryns microphthalmia syndrome
alternative term: Microphthalmia with facial clefting
definition: Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C537767
has db xref: OMIM:600776
has db xref: UMLS:C1833339
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 17.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1104

Microphthalmia with limb anomalies
part of: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
part of: Orphanet_202948
part of: Orphanet_330197
tree view: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
tree view: Orphanet_202948
tree view: Orphanet_330197
alternative term: Anophthalmia-syndactyly syndrome
alternative term: OAS
alternative term: Ophthalmoacromelic syndrome
alternative term: Waardenburg anophthalmia syndrome
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q87.2
has db xref: OMIM:206920
has db xref: UMLS:C0599973
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 35.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_202948
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330197
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1106

Barth syndrome
part of: Orphanet_206966
part of: Orphanet_217613
part of: Orphanet_289902
part of: Orphanet_331184
part of: Orphanet_352312
tree view: Orphanet_206966
tree view: Orphanet_217613
tree view: Orphanet_289902
tree view: Orphanet_331184
tree view: Orphanet_352312
alternative term: 3-methylglutaconic aciduria type 2
alternative term: BTHS
alternative term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
alternative term: Cardioskeletal myopathy-neutropenia syndrome
alternative term: MGA2
alternative term: X-linked cardioskeletal myopathy and neutropenia
definition: Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
definition citation: orphanet
has db xref: ICD-10:E71.1
has db xref: MeSH:D056889
has db xref: OMIM:302060
has db xref: UMLS:C0574083
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.22
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410066
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.15
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.71
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410225
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.29
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_206966
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217613
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_289902
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_331184
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_352312
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:111

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
definition: Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C537785
has db xref: OMIM:107500
has db xref: UMLS:C1862682
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 4.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1110

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
part of: Orphanet_294955
part of: Orphanet_404574
tree view: Orphanet_294955
tree view: Orphanet_404574
alternative term: Johnson-Munson syndrome
definition: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C535881
has db xref: OMIM:207620
has db xref: UMLS:C1859754
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294955
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_404574
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1112

Aphalangy-syndactyly-microcephaly syndrome
part of: Orphanet_294955
part of: Orphanet_294959
part of: Orphanet_404574
tree view: Orphanet_294955
tree view: Orphanet_294959
tree view: Orphanet_404574
definition: Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
definition citation: orphanet
has db xref: ICD-10:Q87.2
has db xref: OMIM:600384
has db xref: UMLS:C1838161
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 5.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294955
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294959
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_404574
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1113

Aplasia cutis congenita
part of: Orphanet_183481
part of: Orphanet_79380
tree view: Orphanet_183481
tree view: Orphanet_79380
definition: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.
definition citation: orphanet
has db xref: ICD-10:Q84.8
has db xref: OMIM:107600
has db xref: UMLS:C0282160
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1114

Recessive aplasia cutis congenita of limbs
part of: Orphanet_183481
part of: Orphanet_79380
tree view: Orphanet_183481
tree view: Orphanet_79380
definition: Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC; see this term) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa (see this term). The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.
definition citation: orphanet
has db xref: ICD-10:Q84.8
has db xref: MeSH:C536840
has db xref: OMIM:600360
has db xref: UMLS:C1838206
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 6.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1115

Aplasia cutis congenita-intestinal lymphangiectasia syndrome
part of: Rare intestinal disease
part of: Orphanet_139027
part of: Orphanet_165655
part of: Orphanet_183481
part of: Orphanet_458841
part of: Orphanet_79380
part of: Orphanet_89832
tree view: Rare intestinal disease
tree view: Orphanet_139027
tree view: Orphanet_165655
tree view: Orphanet_183481
tree view: Orphanet_458841
tree view: Orphanet_79380
tree view: Orphanet_89832
alternative term: Autosomal recessive aplasia cutis
alternative term: Bronspiegel-Zelnick syndrome
definition: Aplasia cutis congenita-intestinal lymphangiectasia syndrome is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
definition citation: orphanet
has db xref: MeSH:C537788
has db xref: OMIM:207731
has db xref: UMLS:C1859753
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Rare intestinal disease
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_165655
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_458841
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_89832
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1116

Aplasia cutis-myopia syndrome
part of: Orphanet_139027
part of: Orphanet_183481
part of: Orphanet_519325
part of: Orphanet_79380
tree view: Orphanet_139027
tree view: Orphanet_183481
tree view: Orphanet_519325
tree view: Orphanet_79380
alternative term: Gershoni-Baruch-Leibo syndrome
definition: Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
definition citation: orphanet
has db xref: ICD-10:Q84.8
has db xref: OMIM:601075
has db xref: UMLS:C1832826
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 4.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139027
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519325
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1117

Fibular aplasia-ectrodactyly syndrome
part of: Orphanet_294957
part of: Orphanet_498477
tree view: Orphanet_294957
tree view: Orphanet_498477
definition: Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.
definition citation: orphanet
has db xref: ICD-10:Q73.8
has db xref: MeSH:C537930
has db xref: OMIM:113310
has db xref: UMLS:C1862100
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 50.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294957
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498477
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1118

Bartter syndrome
part of: Orphanet_183592
part of: Orphanet_93603
tree view: Orphanet_183592
tree view: Orphanet_93603
alternative term: Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
alternative term: Salt-losing tubular disorder, Henle's loop type
alternative term: Salt-wasting tubulopathy, Henle's loop type
definition: Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
definition citation: orphanet
has db xref: ICD-10:E26.8
has db xref: MeSH:D001477
has db xref: MedDRA:10050839
has db xref: OMIM:241200
has db xref: OMIM:300971
has db xref: OMIM:601198
has db xref: OMIM:601678
has db xref: OMIM:602522
has db xref: OMIM:607364
has db xref: OMIM:613090
has db xref: UMLS:C0004775
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    has value: 0.1
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410204
  intersection of: Restriction
    has value: 0.12
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410110
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.7
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183592
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93603
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:112

Lung agenesis-heart defect-thumb anomalies syndrome
part of: Non-syndromic respiratory or mediastinal malformation
part of: Syndromic respiratory or mediastinal malformation
part of: Orphanet_182111
part of: Orphanet_183622
tree view: Non-syndromic respiratory or mediastinal malformation
tree view: Syndromic respiratory or mediastinal malformation
tree view: Orphanet_182111
tree view: Orphanet_183622
alternative term: Mardini-Nyhan syndrome
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: OMIM:601612
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 9.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Non-syndromic respiratory or mediastinal malformation
subclass of: Restriction
  on property: part_of
  some values from: Syndromic respiratory or mediastinal malformation
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182111
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183622
notation: ORPHA:1120

Radial deficiency-tibial hypoplasia syndrome
part of: Orphanet_294957
tree view: Orphanet_294957
definition: Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.
definition citation: orphanet
has db xref: ICD-10:Q73.8
type: Class
subclass of: Orphanet_377789
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294957
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1121

Ulnar hypoplasia-split foot syndrome
part of: Orphanet_294957
tree view: Orphanet_294957
alternative term: Ulnar hypoplasia-lobster-claw deformity of feet syndrome
alternative term: Van den Berghe-Dequecker syndrome
definition: Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
definition citation: orphanet
has db xref: ICD-10:Q73.8
has db xref: MeSH:C536936
has db xref: OMIM:314360
has db xref: UMLS:C1839123
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294957
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1122

Caudal appendage-deafness syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_90642
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_90642
alternative term: Lynch-Lee-Murday syndrome
definition: Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
definition citation: orphanet
has db xref: UMLS:C2931593
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Rare syndromic intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1123

Ocular motor apraxia, Cogan type
part of: Orphanet_98688
tree view: Orphanet_98688
alternative term: Oculomotor apraxia, Cogan type
definition: gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
definition citation: orphanet
has db xref: ICD-10:H51.8
has db xref: MeSH:C537423
has db xref: OMIM:257550
has db xref: UMLS:C0543874
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 50.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98688
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1125

Aprosencephaly cerebellar dysgenesis
part of: Orphanet_268926
tree view: Orphanet_268926
has db xref: ICD-10:Q04.3
has db xref: OMIM:601374
has db xref: UMLS:C1832412
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268926
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
notation: ORPHA:1126

Arachnodactyly-abnormal ossification-intellectual disability syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Rare syndromic intellectual disability
part of: Orphanet_183763
part of: Orphanet_522520
part of: Orphanet_98683
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Rare syndromic intellectual disability
tree view: Orphanet_183763
tree view: Orphanet_522520
tree view: Orphanet_98683
alternative term: Kosztolanyi syndrome
definition: Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: UMLS:C2931398
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 5.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183763
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522520
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98683
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1129

Bazex-Dupré-Christol syndrome
part of: Orphanet_139027
part of: Orphanet_183487
part of: Orphanet_79386
tree view: Orphanet_139027
tree view: Orphanet_183487
tree view: Orphanet_79386
alternative term: BDCS
alternative term: Follicular atrophoderma and basal cell carcinomas
definition: Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
definition citation: orphanet
has db xref: ICD-10:L98.8
has db xref: MeSH:C537663
has db xref: OMIM:301845
has db xref: UMLS:C0346104
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 143.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139027
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183487
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79386
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409934
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:113

Arachnodactyly-intellectual disability-dysmorphism syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
part of: Orphanet_330197
tree view: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
tree view: Orphanet_330197
alternative term: De Die-Smulders-Vles-Fryns syndrome
definition: Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.
definition citation: orphanet
has db xref: ICD-10:Q87.8
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330197
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1130

X-linked mandibulofacial dysostosis
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Orphanet_139036
part of: Orphanet_183576
part of: Orphanet_364574
part of: Orphanet_98464
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Orphanet_139036
tree view: Orphanet_183576
tree view: Orphanet_364574
tree view: Orphanet_98464
alternative term: Mandibulofacial dysostosis, Toriello type
alternative term: X-linked branchial arch syndrome
alternative term: X-linked mandibulofacial dysostosis with limb anomalies
definition: X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
definition citation: orphanet
has db xref: ICD-10:Q75.4
has db xref: OMIM:301950
has db xref: UMLS:C1844918
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 7.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139036
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183576
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_364574
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98464
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1131

Aortic arch defects
has db xref: ICD-10:Q25.4
type: Class
subclass of: Syndromic respiratory or mediastinal malformation
subclass of: Orphanet_182111
subclass of: Orphanet_377794
subclass of: Orphanet_98724
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1132

AREDYLD syndrome
part of: Orphanet_181381
part of: Orphanet_183625
part of: Orphanet_79373
part of: Orphanet_93547
tree view: Orphanet_181381
tree view: Orphanet_183625
tree view: Orphanet_79373
tree view: Orphanet_93547
alternative term: Acrorenal defect-ectodermal dysplasia-diabetes syndrome
definition: AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C537427
has db xref: OMIM:207780
has db xref: UMLS:C0342280
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_181381
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183625
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1133

Isolated arrhinia
part of: Orphanet_156246
tree view: Orphanet_156246
alternative term: Isolated nose agenesis
definition: Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.
definition citation: orphanet
has db xref: ICD-10:Q30.1
has db xref: MeSH:C537438
has db xref: UMLS:C0265740
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 20.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156246
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1134

Arrhinia-choanal atresia-microphthalmia syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
part of: Orphanet_156246
part of: Orphanet_330206
part of: Orphanet_435606
tree view: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
tree view: Orphanet_156246
tree view: Orphanet_330206
tree view: Orphanet_435606
definition: Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
definition citation: orphanet
has db xref: ICD-10:Q87.0
has db xref: OMIM:603457
has db xref: UMLS:C1863878
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 4.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156246
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_435606
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1135

Arnold-Chiari malformation type II
part of: Orphanet_268744
tree view: Orphanet_268744
alternative term: Arnold-Chiari malformation type 2
alternative term: Chiari malformation type 2
alternative term: Chiari malformation type II
definition: Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.
definition citation: orphanet
has db xref: ICD-10:Q07.0
has db xref: MedDRA:10056945
has db xref: OMIM:207950
has db xref: UMLS:C0003803
has db xref: UMLS:C0555206
has db xref: UMLS:C0750930
type: Class
subclass of: Orphanet_377791
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268744
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1136

OBSOLETE: Pulmonary aortic stenosis obstructive uropathy
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_102285 with label: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
type: Class
subclass of: obsolete class

Abnormal origin of the pulmonary artery
has db xref: ICD-10:Q25.7
type: Class
subclass of: Orphanet 2445
subclass of: Orphanet_377794
notation: ORPHA:1138

OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_163209 with label: Non-syndromic cerebral malformation due to abnormal neuronal migration
type: Class
subclass of: obsolete class

Auriculoosteodysplasia
part of: Orphanet_93441
tree view: Orphanet_93441
definition: Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.
definition citation: orphanet
has db xref: ICD-10:Q87.5
has db xref: MeSH:C538271
has db xref: OMIM:109000
has db xref: UMLS:C1862381
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93441
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:114

Neurogenic arthrogryposis multiplex congenita
part of: Arthrogryposis multiplex congenita
tree view: Arthrogryposis multiplex congenita
definition: Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
definition citation: orphanet
has db xref: ICD-10:Q74.3
has db xref: MeSH:C536614
has db xref: OMIM:208100
has db xref: UMLS:C1859721
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 4.3
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Arthrogryposis multiplex congenita
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
notation: ORPHA:1143

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
part of: Orphanet_90642
part of: Orphanet_97120
tree view: Orphanet_90642
tree view: Orphanet_97120
alternative term: Distal arthrogryposis type 6
definition: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
definition citation: orphanet
has db xref: ICD-10:Q68.8
has db xref: MeSH:C535386
has db xref: OMIM:108200
has db xref: UMLS:C1862471
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1144

Infantile-onset X-linked spinal muscular atrophy
part of: Arthrogryposis multiplex congenita
part of: Orphanet_404538
tree view: Arthrogryposis multiplex congenita
tree view: Orphanet_404538
alternative term: SMAX2
alternative term: Spinal muscular atrophy with arthrogryposis
alternative term: X-linked distal arthrogryposis multiplex congenita
alternative term: X-linked spinal muscular atrophy type 2
definition: and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
definition citation: orphanet
has db xref: ICD-10:G12.1
has db xref: MeSH:C535380
has db xref: OMIM:301830
has db xref: UMLS:C1844934
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 14.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Arthrogryposis multiplex congenita
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_404538
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1145

Digitotalar dysmorphism
part of: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
part of: Orphanet_330206
part of: Orphanet_97120
tree view: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
tree view: Orphanet_330206
tree view: Orphanet_97120
alternative term: DA1
alternative term: DA1A
alternative term: Distal arthrogryposis type 1
definition: 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).
definition citation: orphanet
has db xref: ICD-10:Q68.8
has db xref: OMIM:108120
has db xref: OMIM:126050
has db xref: OMIM:614335
has db xref: OMIM:616266
has db xref: UMLS:C0220662
has db xref: UMLS:C1852085
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1146

Sheldon-Hall syndrome
part of: Orphanet_97120
tree view: Orphanet_97120
alternative term: Distal arthrogryposis type 2B
alternative term: Freeman-Sheldon syndrome variant
definition: Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
definition citation: orphanet
has db xref: ICD-10:Q68.8
has db xref: OMIM:601680
has db xref: OMIM:616266
has db xref: UMLS:C1834523
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1147

Arthrogryposis-like syndrome
part of: Arthrogryposis multiplex congenita
tree view: Arthrogryposis multiplex congenita
alternative term: Kuskokwim disease
definition: Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
definition citation: orphanet
has db xref: OMIM:208200
has db xref: UMLS:C1859709
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Restriction
  on property: part_of
  some values from: Arthrogryposis multiplex congenita
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1149

Congenital contractural arachnodactyly
part of: Orphanet_284993
part of: Orphanet_498448
part of: Orphanet_97120
tree view: Orphanet_284993
tree view: Orphanet_498448
tree view: Orphanet_97120
alternative term: Beals syndrome
alternative term: Beals-Hecht syndrome
alternative term: CCA syndrome
alternative term: Distal arthrogryposis type 9
definition: Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
definition citation: orphanet
has db xref: ICD-10:Q68.8
has db xref: MeSH:C536211
has db xref: OMIM:121050
has db xref: UMLS:C0220668
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_284993
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498448
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:115

Arthrogryposis multiplex congenita-whistling face syndrome
part of: Arthrogryposis multiplex congenita
part of: Orphanet_156237
tree view: Arthrogryposis multiplex congenita
tree view: Orphanet_156237
alternative term: Illum syndrome
definition: Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: MeSH:C538401
has db xref: OMIM:208155
has db xref: UMLS:C1859711
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Arthrogryposis multiplex congenita
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156237
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1150

OBSOLETE: Transient neonatal arthrogryposis
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_1037 with label: Arthrogryposis multiplex congenita
type: Class
subclass of: obsolete class

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
part of: Orphanet_97120
tree view: Orphanet_97120
alternative term: Distal arthrogryposis type 5
alternative term: Distal arthrogryposis type IIB
alternative term: Distal arthrogryposis with ophthalmoplegia
alternative term: Oculomelic amyoplasia
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q68.8
has db xref: OMIM:108145
has db xref: UMLS:C1834523
has db xref: UMLS:C1862472
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1154

OBSOLETE: Arthrogryposis due to muscular dystrophy
reason for obsolescence: use http://www.orpha.net/ORDO/Orphanet_1037 with label: Arthrogryposis multiplex congenita
type: Class
subclass of: obsolete class

Progressive pseudorheumatoid arthropathy of childhood
part of: Orphanet 253
part of: Orphanet_498445
tree view: Orphanet 253
tree view: Orphanet_498445
alternative term: Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
definition: Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.
definition citation: orphanet
has db xref: ICD-10:Q77.7
has db xref: MeSH:C535387
has db xref: OMIM:208230
has db xref: UMLS:C0432215
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 253
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498445
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1159

Beckwith-Wiedemann syndrome
part of: Orphanet_156207
part of: Orphanet_156237
part of: Orphanet_183422
part of: Orphanet_217595
part of: Orphanet_319328
part of: Orphanet_93460
part of: Orphanet_93547
tree view: Orphanet_156207
tree view: Orphanet_156237
tree view: Orphanet_183422
tree view: Orphanet_217595
tree view: Orphanet_319328
tree view: Orphanet_93460
tree view: Orphanet_93547
alternative term: BWS
alternative term: Exomphalos-macroglossia-gigantism syndrome
alternative term: Wiedemann-Beckwith syndrome
definition: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.
definition citation: orphanet
has db xref: ICD-10:Q87.3
has db xref: MeSH:D001506
has db xref: MedDRA:10050344
has db xref: OMIM:130650
has db xref: UMLS:C0004903
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.5
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410101
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 7.4
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410102
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 5.25
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410198
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.3
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156207
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156237
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183422
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217595
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_319328
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93460
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:116

Chylous ascites
part of: Orphanet_165711
part of: Orphanet_458841
tree view: Orphanet_165711
tree view: Orphanet_458841
definition: Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.
definition citation: orphanet
has db xref: ICD-10:I89.8
has db xref: MeSH:D002915
has db xref: MedDRA:10003446
has db xref: OMIM:208300
has db xref: UMLS:C0008732
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_165711
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_458841
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:1160

Aspergillosis
part of: Orphanet_163591
tree view: Orphanet_163591
definition: that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.
definition citation: orphanet
has db xref: ICD-10:B44.0
has db xref: ICD-10:B44.1
has db xref: ICD-10:B44.2
has db xref: ICD-10:B44.7
has db xref: ICD-10:B44.8
has db xref: ICD-10:B44.9
has db xref: MeSH:D001228
has db xref: MedDRA:10003488
has db xref: OMIM:614079
has db xref: UMLS:C0004030
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_163591
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:1163

Allergic bronchopulmonary aspergillosis
part of: Rare pulmonary disease
part of: Orphanet_98052
tree view: Rare pulmonary disease
tree view: Orphanet_98052
alternative term: ABPA
alternative term: Allergic aspergillosis
alternative term: Hinson-Pepys disease
definition: , clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.
definition citation: orphanet
has db xref: ICD-10:B44.1+
has db xref: ICD-10:J99.8*
has db xref: MeSH:D001229
has db xref: MedDRA:10006474
has db xref: OMIM:103920
has db xref: UMLS:C0004031
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Rare pulmonary disease
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98052
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1164

Congenital unilateral hypoplasia of depressor anguli oris
part of: Orphanet_155832
part of: Orphanet_330197
tree view: Orphanet_155832
tree view: Orphanet_330197
alternative term: Isolated asymmetric crying facies
definition: Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).
definition citation: orphanet
has db xref: ICD-10:Q87.0
has db xref: MeSH:C535349
has db xref: OMIM:125520
has db xref: UMLS:C0431406
type: Class
subclass of: Orphanet_377791
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_155832
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330197
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1166

Ataxia-oculomotor apraxia type 1
part of: Orphanet_35656
part of: Orphanet_519341
part of: Orphanet_522506
part of: Orphanet_98097
tree view: Orphanet_35656
tree view: Orphanet_519341
tree view: Orphanet_522506
tree view: Orphanet_98097
alternative term: AOA1
definition: Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
definition citation: orphanet
has db xref: ICD-10:G11.3
has db xref: OMIM:208920
has db xref: UMLS:C1859598
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_35656
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519341
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522506
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98097
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1168

Behçet disease
part of: Orphanet_156140
part of: Orphanet_166484
part of: Orphanet_280926
part of: Orphanet_280930
part of: Orphanet_280933
part of: Orphanet_290842
part of: Orphanet_324936
part of: Orphanet_324953
part of: Orphanet_93551
tree view: Orphanet_156140
tree view: Orphanet_166484
tree view: Orphanet_280926
tree view: Orphanet_280930
tree view: Orphanet_280933
tree view: Orphanet_290842
tree view: Orphanet_324936
tree view: Orphanet_324953
tree view: Orphanet_93551
definition: Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
definition citation: orphanet
has db xref: ICD-10:M35.2
has db xref: MeSH:D001528
has db xref: MedDRA:10004213
has db xref: OMIM:109650
has db xref: UMLS:C0004943
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
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  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410095
  intersection of: Restriction
    has value: 0.58
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    has value: 0.24
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410198
  intersection of: Restriction
    has value: 0.66
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409976
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410207
  intersection of: Restriction
    has value: 0.8
    on property: Orphanet C032
subclass of: Class
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    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
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    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410066
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 7.1
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410095
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 16.7
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410099
  intersection of: Restriction
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    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 15.2
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.8
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410102
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410169
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.5
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410186
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409975
  intersection of: Restriction
    has value: 20.0
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410204
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.2
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410207
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.4
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410217
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409980
  intersection of: Restriction
    has value: 225.0
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    has value: 0.5
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410225
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 5.2
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156140
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_166484
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_280926
notation: ORPHA:117

Autosomal recessive cerebelloparenchymal disorder type 3
part of: Orphanet_522548
part of: Orphanet_98095
part of: Orphanet_98641
tree view: Orphanet_522548
tree view: Orphanet_98095
tree view: Orphanet_98641
alternative term: Autosomal recessive spinocerebellar ataxia type 2
alternative term: SCAR2
definition: The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.
definition citation: orphanet
has db xref: ICD-10:G11.0
has db xref: OMIM:213200
has db xref: UMLS:C1859298
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522548
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98095
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98641
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:1170

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
part of: Orphanet_441434
part of: Orphanet_90642
part of: Orphanet_94145
tree view: Orphanet_441434
tree view: Orphanet_90642
tree view: Orphanet_94145
alternative term: CAPOS syndrome
definition: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
definition citation: orphanet
has db xref: OMIM:601338
has db xref: UMLS:C1832466
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 10.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_441434
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409933
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1171

Autosomal recessive cerebellar ataxia
alternative term: ARCA
definition: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.
definition citation: orphanet
type: Class
subclass of: Orphanet_182070
subclass of: Orphanet_183518
subclass of: Orphanet_377794
subclass of: Orphanet_98539
subclass of: Class
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.3
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410066
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 5.3
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410157
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410169
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 3.3
    on property: Orphanet C028
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409950
notation: ORPHA:1172

Cerebellar ataxia-hypogonadism syndrome
part of: Orphanet_181387
part of: Orphanet_183518
tree view: Orphanet_181387
tree view: Orphanet_183518
alternative term: Gordon-Holmes syndrome
alternative term: Luteinizing hormone-releasing hormone deficiency with ataxia
definition: Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).
definition citation: orphanet
has db xref: ICD-10:G11.8
has db xref: OMIM:212840
has db xref: OMIM:605672
has db xref: UMLS:C1859305
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_181387
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:1173

Cerebellar ataxia-ectodermal dysplasia syndrome
part of: Orphanet_79373
tree view: Orphanet_79373
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G11.1
has db xref: MeSH:C535350
has db xref: OMIM:212835
has db xref: UMLS:C1859306
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1174

X-linked progressive cerebellar ataxia
part of: Orphanet_247765
part of: Orphanet_98464
tree view: Orphanet_247765
tree view: Orphanet_98464
has db xref: ICD-10:G11.1
has db xref: OMIM:302500
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_247765
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98464
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1175

Rare intestinal disease
has db xref: UMLS:C0021831
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_97935
notation: ORPHA:117569

Syndromic anorectal malformation
type: Class
subclass of: Orphanet_377794
subclass of: Orphanet_96346
notation: ORPHA:117573

PHD finger protein 6
alternative term: CENP-31
alternative term: KIAA1823
alternative term: MGC14797
alternative term: centromere protein 31
has db xref: Ensembl:ENSG00000156531
has db xref: Genatlas:PHF6
has db xref: HGNC:18145
has db xref: OMIM:300414
has db xref: SwissProt:Q8IWS0
symbol: PHF6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 127
subclass of: Restriction
  has value: Xq26.2
  on property: Orphanet C040

septin 9
alternative term: AF17q25
alternative term: KIAA0991
alternative term: MSF1
alternative term: Ov/Br septin
alternative term: PNUTL4
alternative term: SeptD1
has db xref: Ensembl:ENSG00000184640
has db xref: Genatlas:SEPT9
has db xref: HGNC:7323
has db xref: OMIM:604061
has db xref: SwissProt:Q9UHD8
symbol: SEPT9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 2901
subclass of: Restriction
  has value: 17q25.3
  on property: Orphanet C040

aladin WD repeat nucleoporin
alternative term: Allgrove, triple-A
alternative term: adracalin
alternative term: aladin
has db xref: Ensembl:ENSG00000094914
has db xref: Genatlas:AAAS
has db xref: HGNC:13666
has db xref: OMIM:605378
has db xref: Reactome:Q9NRG9
has db xref: SwissProt:Q9NRG9
symbol: AAAS
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 869
subclass of: Restriction
  has value: 12q13.13
  on property: Orphanet C040

4-aminobutyrate aminotransferase
alternative term: 4-aminobutyrate transaminase
alternative term: GABAT
has db xref: Ensembl:ENSG00000183044
has db xref: Genatlas:ABAT
has db xref: HGNC:23
has db xref: IUPHAR:2464
has db xref: OMIM:137150
has db xref: Reactome:P80404
has db xref: SwissProt:P80404
symbol: ABAT
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2066
subclass of: Restriction
  has value: 16p13.2
  on property: Orphanet C040

ATP binding cassette subfamily A member 12
alternative term: DKFZP434G232
alternative term: LI2
has db xref: Ensembl:ENSG00000144452
has db xref: Genatlas:ABCA12
has db xref: HGNC:14637
has db xref: IUPHAR:766
has db xref: OMIM:607800
has db xref: Reactome:Q86UK0
has db xref: SwissProt:Q86UK0
symbol: ABCA12
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 313
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 457
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79394
subclass of: Restriction
  has value: 2q35
  on property: Orphanet C040

ATP binding cassette subfamily A member 4
alternative term: ARMD2
alternative term: CORD3
alternative term: FFM
alternative term: Stargardt disease
has db xref: Ensembl:ENSG00000198691
has db xref: Genatlas:ABCA4
has db xref: HGNC:34
has db xref: OMIM:601691
has db xref: Reactome:P78363
has db xref: SwissProt:P78363
symbol: ABCA4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1872
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 827
subclass of: Restriction
  has value: 1p22.1
  on property: Orphanet C040

ATP binding cassette subfamily B member 11
alternative term: ABC member 16, MDR/TAP subfamily
alternative term: ABC16
alternative term: PFIC-2
alternative term: PGY4
alternative term: SPGP
has db xref: Ensembl:ENSG00000073734
has db xref: Genatlas:ABCB11
has db xref: HGNC:42
has db xref: OMIM:603201
has db xref: Reactome:O95342
has db xref: SwissProt:O95342
symbol: ABCB11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99961
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_69665
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79304
subclass of: Restriction
  has value: 2q31.1
  on property: Orphanet C040

ATP binding cassette subfamily B member 4
alternative term: GBD1
alternative term: MDR2
alternative term: PFIC-3
has db xref: Ensembl:ENSG00000005471
has db xref: Genatlas:ABCB4
has db xref: HGNC:45
has db xref: OMIM:171060
has db xref: Reactome:P21439
has db xref: SwissProt:P21439
symbol: ABCB4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_69665
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_69663
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79305
subclass of: Restriction
  has value: 7q21.12
  on property: Orphanet C040

ATP binding cassette subfamily B member 7
alternative term: ASAT
alternative term: Atm1p
alternative term: EST140535
has db xref: Ensembl:ENSG00000131269
has db xref: Genatlas:ABCB7
has db xref: HGNC:48
has db xref: OMIM:300135
has db xref: Reactome:O75027
has db xref: SwissProt:O75027
symbol: ABCB7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 2802
subclass of: Restriction
  has value: Xq13.3
  on property: Orphanet C040

ATP binding cassette subfamily C member 2
alternative term: DJS
alternative term: MRP2
alternative term: cMRP
has db xref: Ensembl:ENSG00000023839
has db xref: Genatlas:ABCC2
has db xref: HGNC:53
has db xref: OMIM:601107
has db xref: Reactome:Q92887
has db xref: SwissProt:Q92887
symbol: ABCC2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 234
subclass of: Restriction
  has value: 10q24.2
  on property: Orphanet C040

ATP binding cassette subfamily C member 6
alternative term: EST349056
alternative term: MLP1
alternative term: MRP6
alternative term: URG7
has db xref: Ensembl:ENSG00000091262
has db xref: Genatlas:ABCC6
has db xref: HGNC:57
has db xref: OMIM:603234
has db xref: Reactome:O95255
has db xref: SwissProt:O95255
symbol: ABCC6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_51608
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 758
subclass of: Restriction
  has value: 16p13.11
  on property: Orphanet C040

ATP binding cassette subfamily C member 8
alternative term: ABC36
alternative term: HHF1
alternative term: HI
alternative term: MRP8
alternative term: PHHI
alternative term: SUR1
alternative term: TNDM2
alternative term: sulfonylurea receptor (hyperinsulinemia)
has db xref: Ensembl:ENSG00000006071
has db xref: Genatlas:ABCC8
has db xref: HGNC:59
has db xref: IUPHAR:2594
has db xref: OMIM:600509
has db xref: Reactome:Q09428
has db xref: SwissProt:Q09428
symbol: ABCC8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_276575
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_276598
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 552
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79134
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79643
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99885
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99886
subclass of: Restriction
  has value: 11p15.1
  on property: Orphanet C040

ATP binding cassette subfamily C member 9
alternative term: CMD1O
alternative term: SUR2
alternative term: sulfonylurea receptor 2
has db xref: Ensembl:ENSG00000069431
has db xref: Genatlas:ABCC9
has db xref: HGNC:60
has db xref: IUPHAR:2746
has db xref: OMIM:601439
has db xref: Reactome:O60706
has db xref: SwissProt:O60706
symbol: ABCC9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1517
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 154
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 965
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 966
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 334
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 130
subclass of: Restriction
  has value: 12p12.1
  on property: Orphanet C040

ATP binding cassette subfamily D member 1
alternative term: ALDP
alternative term: AMN
alternative term: adrenoleukodystrophy
has db xref: Ensembl:ENSG00000101986
has db xref: Genatlas:ABCD1
has db xref: HGNC:61
has db xref: OMIM:300371
has db xref: Reactome:P33897
has db xref: SwissProt:P33897
symbol: ABCD1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_139396
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_139399
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_369942
subclass of: Restriction
  has value: Xq28
  on property: Orphanet C040

ATP binding cassette subfamily G member 5
alternative term: STSL
alternative term: sterolin 1
has db xref: Ensembl:ENSG00000138075
has db xref: Genatlas:ABCG5
has db xref: HGNC:13886
has db xref: OMIM:605459
has db xref: Reactome:Q9H222
has db xref: SwissProt:Q9H222
symbol: ABCG5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2882
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_391665
subclass of: Restriction
  has value: 2p21
  on property: Orphanet C040

ATP binding cassette subfamily G member 8
alternative term: GBD4
alternative term: gallbladder disease 4
alternative term: sterolin 2
has db xref: Ensembl:ENSG00000143921
has db xref: Genatlas:ABCG8
has db xref: HGNC:13887
has db xref: OMIM:605460
has db xref: Reactome:Q9H221
has db xref: SwissProt:Q9H221
symbol: ABCG8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2882
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_391665
subclass of: Restriction
  has value: 2p21
  on property: Orphanet C040

abhydrolase domain containing 5
alternative term: CGI-58
alternative term: NCIE2
has db xref: Ensembl:ENSG00000011198
has db xref: Genatlas:ABHD5
has db xref: HGNC:21396
has db xref: OMIM:604780
has db xref: Reactome:Q8WTS1
has db xref: SwissProt:Q8WTS1
symbol: ABHD5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98907
subclass of: Restriction
  has value: 3p21.33
  on property: Orphanet C040

ABL proto-oncogene 1, non-receptor tyrosine kinase
alternative term: JTK7
alternative term: c-ABL
alternative term: p150
has db xref: Ensembl:ENSG00000097007
has db xref: Genatlas:ABL1
has db xref: HGNC:76
has db xref: IUPHAR:1923
has db xref: OMIM:189980
has db xref: Reactome:P00519
has db xref: SwissProt:P00519
symbol: ABL1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 521
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_99860
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_99861
subclass of: Restriction
  has value: 9q34.12
  on property: Orphanet C040

Early-onset cerebellar ataxia with retained tendon reflexes
part of: Orphanet_98098
tree view: Orphanet_98098
alternative term: EOCA
alternative term: EOCARR
alternative term: Harding ataxia
definition: Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
definition citation: orphanet
has db xref: ICD-10:G11.1
has db xref: MeSH:C535633
has db xref: OMIM:212895
has db xref: UMLS:C0393520
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 1.0
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410100
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409977
  intersection of: Restriction
    has value: 2.08
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98098
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:1177

acyl-CoA dehydrogenase medium chain
alternative term: ACAD1
alternative term: MCAD
alternative term: MCADH
alternative term: medium-chain acyl-CoA dehydrogenase
has db xref: Ensembl:ENSG00000117054
has db xref: Genatlas:ACADM
has db xref: HGNC:89
has db xref: OMIM:607008
has db xref: Reactome:P11310
has db xref: SwissProt:P11310
symbol: ACADM
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 42
subclass of: Restriction
  has value: 1p31.1
  on property: Orphanet C040

acyl-CoA dehydrogenase short chain
alternative term: ACAD3
alternative term: SCAD
has db xref: Ensembl:ENSG00000122971
has db xref: Genatlas:ACADS
has db xref: HGNC:90
has db xref: OMIM:606885
has db xref: Reactome:P16219
has db xref: SwissProt:P16219
symbol: ACADS
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_26792
subclass of: Restriction
  has value: 12q24.31
  on property: Orphanet C040

acyl-CoA dehydrogenase short/branched chain
alternative term: ACAD7
alternative term: SBCAD
has db xref: Ensembl:ENSG00000196177
has db xref: Genatlas:ACADSB
has db xref: HGNC:91
has db xref: OMIM:600301
has db xref: Reactome:P45954
has db xref: SwissProt:P45954
symbol: ACADSB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79157
subclass of: Restriction
  has value: 10q26.13
  on property: Orphanet C040

acyl-CoA dehydrogenase very long chain
alternative term: ACAD6
alternative term: LCACD
alternative term: VLCAD
has db xref: Ensembl:ENSG00000072778
has db xref: Genatlas:ACADVL
has db xref: HGNC:92
has db xref: OMIM:609575
has db xref: Reactome:P49748
has db xref: SwissProt:P49748
symbol: ACADVL
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_26793
subclass of: Restriction
  has value: 17p13.1
  on property: Orphanet C040

aggrecan
alternative term: CSPGCP
alternative term: aggrecan proteoglycan
has db xref: Ensembl:ENSG00000157766
has db xref: Genatlas:ACAN
has db xref: HGNC:319
has db xref: OMIM:155760
has db xref: Reactome:P16112
has db xref: SwissProt:P16112
symbol: ACAN
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_171866
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_251262
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93283
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_435804
subclass of: Restriction
  has value: 15q26.1
  on property: Orphanet C040

acetyl-CoA acetyltransferase 1
alternative term: THIL
alternative term: acetoacetyl Coenzyme A thiolase
has db xref: Ensembl:ENSG00000075239
has db xref: Genatlas:ACAT1
has db xref: HGNC:93
has db xref: IUPHAR:2435
has db xref: OMIM:607809
has db xref: Reactome:P24752
has db xref: SwissProt:P24752
symbol: ACAT1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 134
subclass of: Restriction
  has value: 11q22.3
  on property: Orphanet C040

angiotensin I converting enzyme
alternative term: ACE1
alternative term: CD143
alternative term: peptidyl-dipeptidase A
has db xref: Ensembl:ENSG00000159640
has db xref: Genatlas:ACE
has db xref: HGNC:2707
has db xref: IUPHAR:1613
has db xref: OMIM:106180
has db xref: Reactome:P12821
has db xref: SwissProt:P12821
symbol: ACE
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_97369
subclass of: Restriction
  has value: 17q23.3
  on property: Orphanet C040

acyl-CoA oxidase 1
alternative term: PALMCOX
alternative term: palmitoyl-CoA oxidase
has db xref: Ensembl:ENSG00000161533
has db xref: Genatlas:ACOX1
has db xref: HGNC:119
has db xref: OMIM:609751
has db xref: Reactome:Q15067
has db xref: SwissProt:Q15067
symbol: ACOX1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2971
subclass of: Restriction
  has value: 17q25.1
  on property: Orphanet C040

acyl-CoA synthetase long chain family member 4
alternative term: ACS4
alternative term: LACS4
alternative term: lignoceroyl-CoA synthase
alternative term: long-chain fatty-acid-Coenzyme A ligase 4
has db xref: Ensembl:ENSG00000068366
has db xref: Genatlas:ACSL4
has db xref: HGNC:3571
has db xref: OMIM:300157
has db xref: Reactome:O60488
has db xref: SwissProt:O60488
symbol: ACSL4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 777
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_86818
subclass of: Restriction
  has value: Xq23
  on property: Orphanet C040

actin, alpha 1, skeletal muscle
alternative term: NEM3
alternative term: nemaline myopathy type 3
has db xref: Ensembl:ENSG00000143632
has db xref: Genatlas:ACTA1
has db xref: HGNC:129
has db xref: OMIM:102610
has db xref: Reactome:P68133
has db xref: SwissProt:P68133
symbol: ACTA1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_171430
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_171433
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_171436
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_171439
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2020
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_447977
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_97240
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_97244
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98904
subclass of: Restriction
  has value: 1q42.13
  on property: Orphanet C040

actin, alpha, cardiac muscle 1
alternative term: CMD1R
has db xref: Ensembl:ENSG00000159251
has db xref: Genatlas:ACTC1
has db xref: HGNC:143
has db xref: OMIM:102540
has db xref: Reactome:P68032
has db xref: SwissProt:P68032
symbol: ACTC1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 154
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99103
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_54260
subclass of: Restriction
  has value: 15q14
  on property: Orphanet C040

actinin alpha 4
has db xref: Ensembl:ENSG00000130402
has db xref: Genatlas:ACTN4
has db xref: HGNC:166
has db xref: OMIM:604638
has db xref: Reactome:O43707
has db xref: SwissProt:O43707
symbol: ACTN4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93213
subclass of: Restriction
  has value: 19q13.2
  on property: Orphanet C040

activin A receptor type 1
alternative term: ACVR1A
alternative term: ALK2
alternative term: SKR1
has db xref: Ensembl:ENSG00000115170
has db xref: Genatlas:ACVR1
has db xref: HGNC:171
has db xref: IUPHAR:1785
has db xref: OMIM:102576
has db xref: SwissProt:Q04771
symbol: ACVR1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 337
subclass of: Restriction
  has value: 2q24.1
  on property: Orphanet C040

activin A receptor like type 1
alternative term: ALK1
alternative term: HHT
alternative term: HHT2
alternative term: activin receptor-like kinase 1
has db xref: Ensembl:ENSG00000139567
has db xref: Genatlas:ACVRL1
has db xref: HGNC:175
has db xref: IUPHAR:1784
has db xref: OMIM:601284
has db xref: Reactome:P37023
has db xref: SwissProt:P37023
symbol: ACVRL1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 774
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_275777
subclass of: Restriction
  has value: 12q13.13
  on property: Orphanet C040

adenosine deaminase
has db xref: Ensembl:ENSG00000196839
has db xref: Genatlas:ADA
has db xref: HGNC:186
has db xref: IUPHAR:1230
has db xref: OMIM:608958
has db xref: Reactome:P00813
has db xref: SwissProt:P00813
symbol: ADA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 277
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_39041
subclass of: Restriction
  has value: 20q13.12
  on property: Orphanet C040

ADAM metallopeptidase with thrombospondin type 1 motif 10
alternative term: ADAM-TS10
has db xref: Ensembl:ENSG00000142303
has db xref: Genatlas:ADAMTS10
has db xref: HGNC:13201
has db xref: OMIM:608990
has db xref: Reactome:Q9H324
has db xref: SwissProt:Q9H324
symbol: ADAMTS10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3449
subclass of: Restriction
  has value: 19p13.2
  on property: Orphanet C040

ADAM metallopeptidase with thrombospondin type 1 motif 13
alternative term: DKFZp434C2322
alternative term: FLJ42993
alternative term: MGC118899
alternative term: MGC118900
alternative term: TTP
alternative term: VWFCP
alternative term: vWF-CP
has db xref: Ensembl:ENSG00000160323
has db xref: Genatlas:ADAMTS13
has db xref: HGNC:1366
has db xref: OMIM:604134
has db xref: Reactome:Q76LX8
has db xref: SwissProt:Q76LX8
symbol: ADAMTS13
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_93583
subclass of: Restriction
  has value: 9q34.2
  on property: Orphanet C040

ADAM metallopeptidase with thrombospondin type 1 motif 2
alternative term: ADAM-TS2
alternative term: ADAMTS-3
alternative term: NPI
alternative term: PCINP
alternative term: hPCPNI
alternative term: procollagen I N-proteinase
alternative term: procollagen N-endopeptidase
has db xref: Ensembl:ENSG00000087116
has db xref: Genatlas:ADAMTS2
has db xref: HGNC:218
has db xref: OMIM:604539
has db xref: Reactome:O95450
has db xref: SwissProt:O95450
symbol: ADAMTS2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1901
subclass of: Restriction
  has value: 5q35.3
  on property: Orphanet C040

phosphoglycerate dehydrogenase
alternative term: PDG
alternative term: PGDH
alternative term: SERA
has db xref: Ensembl:ENSG00000092621
has db xref: Genatlas:PHGDH
has db xref: HGNC:8923
has db xref: OMIM:606879
has db xref: Reactome:O43175
has db xref: SwissProt:O43175
symbol: PHGDH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79351
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 2671
subclass of: Restriction
  has value: 1p12
  on property: Orphanet C040

phosphorylase kinase regulatory subunit alpha 1
has db xref: Ensembl:ENSG00000067177
has db xref: Genatlas:PHKA1
has db xref: HGNC:8925
has db xref: OMIM:311870
has db xref: Reactome:P46020
has db xref: SwissProt:P46020
symbol: PHKA1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 715
subclass of: Restriction
  has value: Xq13.1
  on property: Orphanet C040

phosphorylase kinase regulatory subunit alpha 2
has db xref: Ensembl:ENSG00000044446
has db xref: Genatlas:PHKA2
has db xref: HGNC:8926
has db xref: OMIM:300798
has db xref: Reactome:P46019
has db xref: SwissProt:P46019
symbol: PHKA2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_264580
subclass of: Restriction
  has value: Xp22.13
  on property: Orphanet C040

phosphorylase kinase regulatory subunit beta
has db xref: Ensembl:ENSG00000102893
has db xref: Genatlas:PHKB
has db xref: HGNC:8927
has db xref: OMIM:172490
has db xref: Reactome:Q93100
has db xref: SwissProt:Q93100
symbol: PHKB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79240
subclass of: Restriction
  has value: 16q12.1
  on property: Orphanet C040

paired like homeobox 2a
alternative term: CFEOM2
alternative term: PMX2A
has db xref: Ensembl:ENSG00000165462
has db xref: Genatlas:PHOX2A
has db xref: HGNC:691
has db xref: OMIM:602753
has db xref: SwissProt:O14813
symbol: PHOX2A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_45358
subclass of: Restriction
  has value: 11q13.4
  on property: Orphanet C040

Ataxia-tapetoretinal degeneration syndrome
part of: Orphanet_183518
tree view: Orphanet_183518
has db xref: OMIM:272600
has db xref: UMLS:C1848932
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
notation: ORPHA:1178

paired like homeobox 2b
alternative term: NBPhox
alternative term: Phox2b
has db xref: Ensembl:ENSG00000109132
has db xref: Genatlas:PHOX2B
has db xref: HGNC:9143
has db xref: OMIM:603851
has db xref: SwissProt:Q99453
symbol: PHOX2B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 661
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99803
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 2151
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 635
subclass of: Restriction
  has value: 4p13
  on property: Orphanet C040

phytanoyl-CoA 2-hydroxylase
alternative term: PAHX
alternative term: PHYH1
alternative term: RD
alternative term: Refsum disease
alternative term: phytanoyl-CoA dioxygenase
has db xref: Ensembl:ENSG00000107537
has db xref: Genatlas:PHYH
has db xref: HGNC:8940
has db xref: OMIM:602026
has db xref: Reactome:O14832
has db xref: SwissProt:O14832
symbol: PHYH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 773
subclass of: Restriction
  has value: 10p13
  on property: Orphanet C040

phosphatidylinositol glycan anchor biosynthesis class M
alternative term: DPM:GlcN-(acyl-)PI mannosyltransferase
alternative term: GPI mannosyltransferase 1
alternative term: GPI-MT-I
alternative term: dol-P-Man dependent GPI mannosyltransferase
has db xref: Ensembl:ENSG00000143315
has db xref: Genatlas:PIGM
has db xref: HGNC:18858
has db xref: OMIM:610273
has db xref: Reactome:Q9H3S5
has db xref: SwissProt:Q9H3S5
symbol: PIGM
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_83639
subclass of: Restriction
  has value: 1q23.2
  on property: Orphanet C040

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
alternative term: PI3K
has db xref: Ensembl:ENSG00000121879
has db xref: Genatlas:PIK3CA
has db xref: HGNC:8975
has db xref: IUPHAR:2153
has db xref: OMIM:171834
has db xref: Reactome:P42336
has db xref: SwissProt:P42336
symbol: PIK3CA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_140944
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_210159
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_276280
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_295239
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_295243
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_314662
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_60040
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_99802
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 201
subclass of: Restriction
  on property: Orphanet_465410
  some values from: Orphanet 144
subclass of: Restriction
  has value: 3q26.32
  on property: Orphanet C040

PTEN induced putative kinase 1
has db xref: Ensembl:ENSG00000158828
has db xref: Genatlas:PINK1
has db xref: HGNC:14581
has db xref: IUPHAR:2161
has db xref: OMIM:608309
has db xref: Reactome:Q9BXM7
has db xref: SwissProt:Q9BXM7
symbol: PINK1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2828
subclass of: Restriction
  has value: 1p36.12
  on property: Orphanet C040

phosphoinositide kinase, FYVE-type zinc finger containing
alternative term: FAB1
alternative term: KIAA0981
alternative term: MGC40423
alternative term: PIKfyve
alternative term: PIP5K
alternative term: ZFYVE29
alternative term: p235
alternative term: zinc finger, FYVE domain containing 29
has db xref: Ensembl:ENSG00000115020
has db xref: Genatlas:PIKFYVE
has db xref: HGNC:23785
has db xref: OMIM:609414
has db xref: Reactome:Q9Y2I7
has db xref: SwissProt:Q9Y2I7
symbol: PIKFYVE
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_98970
subclass of: Restriction
  has value: 2q34
  on property: Orphanet C040

paired like homeodomain 2
alternative term: ARP1
alternative term: Brx1
alternative term: IGDS
alternative term: Otlx2
alternative term: RS
has db xref: Ensembl:ENSG00000164093
has db xref: Genatlas:PITX2
has db xref: HGNC:9005
has db xref: OMIM:601542
has db xref: Reactome:Q99697
has db xref: SwissProt:Q99697
symbol: PITX2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_91481
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_91483
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98978
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 708
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 334
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 782
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 782
subclass of: Restriction
  has value: 4q25
  on property: Orphanet C040

paired like homeodomain 3
has db xref: Ensembl:ENSG00000107859
has db xref: Genatlas:PITX3
has db xref: HGNC:9006
has db xref: OMIM:602669
has db xref: SwissProt:O75364
symbol: PITX3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_88632
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98993
subclass of: Restriction
  has value: 10q24.32
  on property: Orphanet C040

polycystin 1, transient receptor potential channel interacting
alternative term: PBP
alternative term: Pc-1
alternative term: TRPP1
alternative term: polycystin 1
alternative term: transient receptor potential cation channel, subfamily P, member 1
has db xref: Ensembl:ENSG00000008710
has db xref: Genatlas:PKD1
has db xref: HGNC:9008
has db xref: OMIM:601313
has db xref: Reactome:P98161
has db xref: SwissProt:P98161
symbol: PKD1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 730
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_88924
subclass of: Restriction
  has value: 16p13.3
  on property: Orphanet C040

polycystin 2, transient receptor potential cation channel
alternative term: PC2
alternative term: PKD4
alternative term: Pc-2
alternative term: TRPP2
alternative term: transient receptor potential cation channel, subfamily P, member 2
has db xref: Ensembl:ENSG00000118762
has db xref: Genatlas:PKD2
has db xref: HGNC:9009
has db xref: IUPHAR:504
has db xref: OMIM:173910
has db xref: Reactome:Q13563
has db xref: SwissProt:Q13563
symbol: PKD2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 730
subclass of: Restriction
  has value: 4q22.1
  on property: Orphanet C040

PKHD1, fibrocystin/polyductin
alternative term: ARPKD
alternative term: FCYT
alternative term: FPC
alternative term: fibrocystin
alternative term: fibrocystin/polyductin complex
alternative term: polyductin
alternative term: tigmin
has db xref: Ensembl:ENSG00000170927
has db xref: Genatlas:PKHD1
has db xref: HGNC:9016
has db xref: OMIM:606702
has db xref: SwissProt:P08F94
symbol: PKHD1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_53035
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 731
subclass of: Restriction
  has value: 6p12.3-p12.2
  on property: Orphanet C040

pyruvate kinase L/R
has db xref: Ensembl:ENSG00000143627
has db xref: Genatlas:PKLR
has db xref: HGNC:9020
has db xref: OMIM:609712
has db xref: Reactome:P30613
has db xref: SwissProt:P30613
symbol: PKLR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 766
subclass of: Restriction
  has value: 1q22
  on property: Orphanet C040

plakophilin 1
alternative term: B6P
alternative term: ectodermal dysplasia/skin fragility syndrome
has db xref: Ensembl:ENSG00000081277
has db xref: Genatlas:PKP1
has db xref: HGNC:9023
has db xref: OMIM:601975
has db xref: Reactome:Q13835
has db xref: SwissProt:Q13835
symbol: PKP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_158668
subclass of: Restriction
  has value: 1q32.1
  on property: Orphanet C040

plakophilin 2
has db xref: Ensembl:ENSG00000057294
has db xref: Genatlas:PKP2
has db xref: HGNC:9024
has db xref: OMIM:602861
has db xref: Reactome:Q99959
has db xref: SwissProt:Q99959
symbol: PKP2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293888
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293899
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293910
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_54260
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 130
subclass of: Restriction
  has value: 12p11.21
  on property: Orphanet C040

phospholipase A2 group VI
alternative term: NBIA2
alternative term: Neurodegeneration with brain iron accumulation 2
alternative term: PARK14
alternative term: PNPLA9
alternative term: iPLA2
alternative term: iPLA2beta
has db xref: Ensembl:ENSG00000184381
has db xref: Genatlas:PLA2G6
has db xref: HGNC:9039
has db xref: OMIM:603604
has db xref: Reactome:O60733
has db xref: SwissProt:O60733
symbol: PLA2G6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_199351
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_35069
subclass of: Restriction
  has value: 22q13.1
  on property: Orphanet C040

plectin
alternative term: PCN
alternative term: PLTN
has db xref: Ensembl:ENSG00000178209
has db xref: Genatlas:PLEC
has db xref: HGNC:9069
has db xref: OMIM:601282
has db xref: Reactome:Q15149
has db xref: SwissProt:Q15149
symbol: PLEC
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_158684
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_254361
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 257
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79401
subclass of: Restriction
  has value: 8q24.3
  on property: Orphanet C040

pleckstrin homology and RhoGEF domain containing G4
alternative term: ARHGEF44
alternative term: DKFZP434I216
alternative term: puratrophin-1
has db xref: Ensembl:ENSG00000196155
has db xref: Genatlas:PLEKHG4
has db xref: HGNC:24501
has db xref: OMIM:609526
has db xref: Reactome:Q58EX7
has db xref: SwissProt:Q58EX7
symbol: PLEKHG4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_98765
subclass of: Restriction
  has value: 16q22.1
  on property: Orphanet C040

plasminogen
has db xref: Ensembl:ENSG00000122194
has db xref: Genatlas:PLG
has db xref: HGNC:9071
has db xref: IUPHAR:2394
has db xref: OMIM:173350
has db xref: Reactome:P00747
has db xref: SwissProt:P00747
symbol: PLG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 722
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_97231
subclass of: Restriction
  has value: 6q26
  on property: Orphanet C040

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
alternative term: LH1
alternative term: lysyl hydroxlase 1
has db xref: Ensembl:ENSG00000083444
has db xref: Genatlas:PLOD1
has db xref: HGNC:9081
has db xref: OMIM:153454
has db xref: Reactome:Q02809
has db xref: SwissProt:Q02809
symbol: PLOD1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1900
subclass of: Restriction
  has value: 1p36.22
  on property: Orphanet C040

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
alternative term: LH2
alternative term: lysyl hydroxlase 2
alternative term: procollagen-lysine 5-dioxygenase
has db xref: Ensembl:ENSG00000152952
has db xref: Genatlas:PLOD2
has db xref: HGNC:9082
has db xref: OMIM:601865
has db xref: Reactome:O00469
has db xref: SwissProt:O00469
symbol: PLOD2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 2771
subclass of: Restriction
  has value: 3q24
  on property: Orphanet C040

proteolipid protein 1
alternative term: GPM6C
alternative term: Pelizaeus-Merzbacher disease
has db xref: Ensembl:ENSG00000123560
has db xref: Genatlas:PLP1
has db xref: HGNC:9086
has db xref: OMIM:300401
has db xref: SwissProt:P60201
symbol: PLP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280210
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280219
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280224
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280229
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280234
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99015
subclass of: Restriction
  has value: Xq22.2
  on property: Orphanet C040

promyelocytic leukemia
alternative term: MYL
alternative term: RNF71
alternative term: TRIM19
has db xref: Ensembl:ENSG00000140464
has db xref: Genatlas:PML
has db xref: HGNC:9113
has db xref: OMIM:102578
has db xref: Reactome:P29590
has db xref: SwissProt:P29590
symbol: PML
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 520

Benign paroxysmal tonic upgaze of childhood with ataxia
part of: Orphanet_306768
tree view: Orphanet_306768
alternative term: Ouvrier-Billson syndrome
definition: Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
definition citation: orphanet
has db xref: ICD-10:G96.8
has db xref: OMIM:168885
has db xref: UMLS:C1868576
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 12.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306768
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1179

phosphomannomutase 2
alternative term: CDG1a
alternative term: CDGS
alternative term: PMI
alternative term: PMI1
alternative term: mannose-6-phosphate isomerase
alternative term: phosphomannose isomerase 1
has db xref: Ensembl:ENSG00000140650
has db xref: Genatlas:PMM2
has db xref: HGNC:9115
has db xref: OMIM:601785
has db xref: Reactome:O15305
has db xref: SwissProt:O15305
symbol: PMM2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79318
subclass of: Restriction
  has value: 16p13.2
  on property: Orphanet C040

peripheral myelin protein 22
alternative term: GAS3
alternative term: HNPP
alternative term: Sp110
has db xref: Ensembl:ENSG00000109099
has db xref: Genatlas:PMP22
has db xref: HGNC:9118
has db xref: OMIM:601097
has db xref: Reactome:Q01453
has db xref: SwissProt:Q01453
symbol: PMP22
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Charcot-Marie-Tooth disease type 1A
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3115
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 640
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_64748
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90658
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_98916
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet 640
subclass of: Restriction
  has value: 17p12
  on property: Orphanet C040

PMS1 homolog 1, mismatch repair system component
alternative term: MLH2
has db xref: Ensembl:ENSG00000064933
has db xref: Genatlas:PMS1
has db xref: HGNC:9121
has db xref: OMIM:600258
has db xref: SwissProt:P54277
symbol: PMS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 144
subclass of: Restriction
  has value: 2q32.2
  on property: Orphanet C040

PMS1 homolog 2, mismatch repair system component
alternative term: HNPCC4
alternative term: H_DJ0042M02.9
alternative term: MLH4
has db xref: Ensembl:ENSG00000122512
has db xref: Genatlas:PMS2
has db xref: HGNC:9122
has db xref: OMIM:600259
has db xref: Reactome:P54278
has db xref: SwissProt:P54278
symbol: PMS2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 144
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_252202
subclass of: Restriction
  has value: 7p22.1
  on property: Orphanet C040

DNA polymerase gamma, catalytic subunit
alternative term: POLG1
alternative term: POLGA
has db xref: Ensembl:ENSG00000140521
has db xref: Genatlas:POLG
has db xref: HGNC:9179
has db xref: OMIM:174763
has db xref: Reactome:P54098
has db xref: SwissProt:P54098
symbol: POLG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_254881
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_254886
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_254892
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_70595
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 726
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_94125
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_402082
subclass of: Restriction
  has value: 15q26.1
  on property: Orphanet C040

DNA polymerase gamma 2, accessory subunit
alternative term: HP55
alternative term: MTPOLB
has db xref: Ensembl:ENSG00000256525
has db xref: Genatlas:POLG2
has db xref: HGNC:9180
has db xref: OMIM:604983
has db xref: Reactome:Q9UHN1
has db xref: SwissProt:Q9UHN1
symbol: POLG2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_254892
subclass of: Restriction
  has value: 17q23.3
  on property: Orphanet C040

DNA polymerase eta
alternative term: RAD30A
alternative term: XP-V
has db xref: Ensembl:ENSG00000170734
has db xref: Genatlas:POLH
has db xref: HGNC:9181
has db xref: OMIM:603968
has db xref: Reactome:Q9Y253
has db xref: SwissProt:Q9Y253
symbol: POLH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90342
subclass of: Restriction
  has value: 6p21.1
  on property: Orphanet C040

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
alternative term: FLJ20277
alternative term: LGMD2O
alternative term: MGAT1.2
alternative term: protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
has db xref: Ensembl:ENSG00000085998
has db xref: Genatlas:POMGNT1
has db xref: HGNC:19139
has db xref: OMIM:606822
has db xref: Reactome:Q8WZA1
has db xref: SwissProt:Q8WZA1
symbol: POMGNT1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_206564
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_370959
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 899
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 588
subclass of: Restriction
  has value: 1p34.1
  on property: Orphanet C040

protein O-mannosyltransferase 1
alternative term: LGMD2K
alternative term: dolichyl-phosphate-mannose-protein mannosyltransferase
has db xref: Ensembl:ENSG00000130714
has db xref: Genatlas:POMT1
has db xref: HGNC:9202
has db xref: OMIM:607423
has db xref: Reactome:Q9Y6A1
has db xref: SwissProt:Q9Y6A1
symbol: POMT1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_370959
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_370968
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_370980
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 588
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_86812
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 899
subclass of: Restriction
  has value: 9q34.13
  on property: Orphanet C040

protein O-mannosyltransferase 2
alternative term: Dolichyl-phosphate-mannose--protein mannosyltransferase
alternative term: LGMD2N
has db xref: Ensembl:ENSG00000009830
has db xref: Genatlas:POMT2
has db xref: HGNC:19743
has db xref: OMIM:607439
has db xref: Reactome:Q9UKY4
has db xref: SwissProt:Q9UKY4
symbol: POMT2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_206559
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_370959
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_370968
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 588
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 899
subclass of: Restriction
  has value: 14q24.3
  on property: Orphanet C040

cytochrome p450 oxidoreductase
alternative term: CYPOR
alternative term: FLJ26468
has db xref: Ensembl:ENSG00000127948
has db xref: Genatlas:POR
has db xref: HGNC:9208
has db xref: OMIM:124015
has db xref: Reactome:P16435
has db xref: SwissProt:P16435
symbol: POR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_95699
subclass of: Restriction
  has value: 7q11.23
  on property: Orphanet C040

POU class 1 homeobox 1
alternative term: GHF-1
alternative term: PIT-1
alternative term: POU1F1a
alternative term: growth hormone factor 1
alternative term: pituitary transcript factor 1
has db xref: Ensembl:ENSG00000064835
has db xref: Genatlas:POU1F1
has db xref: HGNC:9210
has db xref: OMIM:173110
has db xref: SwissProt:P28069
symbol: POU1F1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_226307
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_95494
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_231679
subclass of: Restriction
  has value: 3p11.2
  on property: Orphanet C040

POU class 3 homeobox 4
alternative term: BRN4
alternative term: DFNX2
alternative term: OTF9
alternative term: Octamer-binding transcription factor 9
alternative term: brain-4
has db xref: Ensembl:ENSG00000196767
has db xref: Genatlas:POU3F4
has db xref: HGNC:9217
has db xref: OMIM:300039
has db xref: SwissProt:P49335
symbol: POU3F4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_163988
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 383
subclass of: Restriction
  has value: Xq21.1
  on property: Orphanet C040

POU class 4 homeobox 3
alternative term: BRN3C
has db xref: Ensembl:ENSG00000091010
has db xref: Genatlas:POU4F3
has db xref: HGNC:9220
has db xref: OMIM:602460
has db xref: Reactome:Q15319
has db xref: SwissProt:Q15319
symbol: POU4F3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90635
subclass of: Restriction
  has value: 5q32
  on property: Orphanet C040

POU class 6 homeobox 2
alternative term: RPF-1
alternative term: Retina-derived POU-domain factor-1
has db xref: Ensembl:ENSG00000106536
has db xref: Genatlas:POU6F2
has db xref: HGNC:21694
has db xref: OMIM:609062
has db xref: Reactome:P78424
has db xref: SwissProt:P78424
symbol: POU6F2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 654
subclass of: Restriction
  has value: 7p14.1
  on property: Orphanet C040

peroxisome proliferator activated receptor gamma
alternative term: NR1C3
alternative term: PPARG1
alternative term: PPARG2
alternative term: PPARgamma
has db xref: Ensembl:ENSG00000132170
has db xref: Genatlas:PPARG
has db xref: HGNC:9236
has db xref: IUPHAR:595
has db xref: OMIM:601487
has db xref: Reactome:P37231
has db xref: SwissProt:P37231
symbol: PPARG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 528
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79083
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 146
subclass of: Restriction
  on property: Orphanet_465410
  some values from: Orphanet_251576
subclass of: Restriction
  on property: Orphanet_465410
  some values from: Orphanet_251579
subclass of: Restriction
  has value: 3p25.2
  on property: Orphanet C040

protoporphyrinogen oxidase
alternative term: PPO
has db xref: Ensembl:ENSG00000143224
has db xref: Genatlas:PPOX
has db xref: HGNC:9280
has db xref: OMIM:600923
has db xref: Reactome:P50336
has db xref: SwissProt:P50336
symbol: PPOX
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79473
subclass of: Restriction
  has value: 1q23.3
  on property: Orphanet C040

protein phosphatase 2 regulatory subunit Bbeta
alternative term: B55beta
alternative term: PP2A subunit B isoform beta
alternative term: PR52B
alternative term: PR55-BETA
has db xref: Ensembl:ENSG00000156475
has db xref: Genatlas:PPP2R2B
has db xref: HGNC:9305
has db xref: OMIM:604325
has db xref: Reactome:Q00005
has db xref: SwissProt:Q00005
symbol: PPP2R2B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98762
subclass of: Restriction
  has value: 5q32
  on property: Orphanet C040

palmitoyl-protein thioesterase 1
alternative term: CLN1
alternative term: INCL
alternative term: ceroid-lipofuscinosis, neuronal 1, infantile
has db xref: Ensembl:ENSG00000131238
has db xref: Genatlas:PPT1
has db xref: HGNC:9325
has db xref: OMIM:600722
has db xref: Reactome:P50897
has db xref: SwissProt:P50897
symbol: PPT1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_228329
subclass of: Restriction
  has value: 1p34.2
  on property: Orphanet C040

polyglutamine binding protein 1
has db xref: Ensembl:ENSG00000102103
has db xref: Genatlas:PQBP1
has db xref: HGNC:9330
has db xref: OMIM:300463
has db xref: Reactome:O60828
has db xref: SwissProt:O60828
symbol: PQBP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93945
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93946
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93947
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93950
subclass of: Restriction
  has value: Xp11.23
  on property: Orphanet C040

papillary renal cell carcinoma (translocation-associated)
alternative term: RCCP1
has db xref: Ensembl:ENSG00000143294
has db xref: Genatlas:PRCC
has db xref: HGNC:9343
has db xref: OMIM:179755
has db xref: Reactome:Q92733
has db xref: SwissProt:Q92733
symbol: PRCC
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_319308
subclass of: Restriction
  has value: 1q23.1
  on property: Orphanet C040

photoreceptor disc component
alternative term: RP36
has db xref: Ensembl:ENSG00000214140
has db xref: Genatlas:PRCD
has db xref: HGNC:32528
has db xref: OMIM:610598
has db xref: SwissProt:Q00LT1
symbol: PRCD
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 17q25.1
  on property: Orphanet C040

perforin 1
alternative term: HPLH2
alternative term: P1
alternative term: PFP
alternative term: Perforin
alternative term: perforin 1 (preforming protein)
has db xref: Ensembl:ENSG00000180644
has db xref: Genatlas:PRF1
has db xref: HGNC:9360
has db xref: OMIM:170280
has db xref: SwissProt:P14222
symbol: PRF1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_391343
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 540
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 88
subclass of: Restriction
  has value: 10q22.1
  on property: Orphanet C040

Beta-mannosidosis
part of: Orphanet_207018
part of: Orphanet_217581
part of: Orphanet_79215
part of: Orphanet_93448
tree view: Orphanet_207018
tree view: Orphanet_217581
tree view: Orphanet_79215
tree view: Orphanet_93448
alternative term: Beta-mannosidase deficiency
definition: Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
definition citation: orphanet
has db xref: ICD-10:E77.1
has db xref: MeSH:D044905
has db xref: OMIM:248510
has db xref: UMLS:C0342849
has db xref: UMLS:C2931893
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.14
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410050
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.16
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410147
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.13
    on property: Orphanet C029
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410169
  intersection of: Restriction
    on property: Orphanet C026
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.12
    on property: Orphanet C029
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_207018
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217581
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79215
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93448
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409948
notation: ORPHA:118

Ataxia-hypogonadism-choroidal dystrophy syndrome
part of: Orphanet_181387
part of: Orphanet_183518
part of: Orphanet_519321
part of: Orphanet_519325
tree view: Orphanet_181387
tree view: Orphanet_183518
tree view: Orphanet_519321
tree view: Orphanet_519325
alternative term: Boucher-Neuhäuser syndrome
definition: Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).
definition citation: orphanet
has db xref: ICD-10:G11.8
has db xref: OMIM:215470
has db xref: UMLS:C1859093
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_181387
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519321
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519325
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1180

proteoglycan 4
alternative term: FLJ32635
alternative term: HAPO
alternative term: JCAP
alternative term: Jacobs camptodactyly-arthropathy-pericarditis syndrome
alternative term: MSF
alternative term: SZP
alternative term: articular superficial zone protein
alternative term: bG174L6.2
alternative term: bG174L6.2 (MSF: megakaryocyte stimulating factor )
alternative term: camptodactyly, arthropathy, coxa vara, pericarditis syndrome
alternative term: lubricin
alternative term: megakaryocyte stimulating factor
has db xref: Ensembl:ENSG00000116690
has db xref: Genatlas:PRG4
has db xref: HGNC:9364
has db xref: OMIM:604283
has db xref: SwissProt:Q92954
symbol: PRG4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2848
subclass of: Restriction
  has value: 1q31.1
  on property: Orphanet C040

protein kinase AMP-activated non-catalytic subunit gamma 2
alternative term: AAKG
alternative term: AAKG2
alternative term: AMPK gamma2
alternative term: CMH6
alternative term: H91620p
alternative term: WPWS
has db xref: Ensembl:ENSG00000106617
has db xref: Genatlas:PRKAG2
has db xref: HGNC:9386
has db xref: IUPHAR:1546
has db xref: OMIM:602743
has db xref: Reactome:Q9UGJ0
has db xref: SwissProt:Q9UGJ0
symbol: PRKAG2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_439854
subclass of: Restriction
  has value: 7q36.1
  on property: Orphanet C040

protein kinase cAMP-dependent type I regulatory subunit alpha
alternative term: CNC1
alternative term: Carney complex type 1
has db xref: Ensembl:ENSG00000108946
has db xref: Genatlas:PRKAR1A
has db xref: HGNC:9388
has db xref: IUPHAR:1472
has db xref: OMIM:188830
has db xref: Reactome:P10644
has db xref: SwissProt:P10644
symbol: PRKAR1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_189439
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 615
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 520
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 1359
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_280651
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 950
subclass of: Restriction
  has value: 17q24.2
  on property: Orphanet C040

protein kinase C gamma
alternative term: MGC57564
alternative term: PKC-gamma
alternative term: PKCC
has db xref: Ensembl:ENSG00000126583
has db xref: Genatlas:PRKCG
has db xref: HGNC:9402
has db xref: IUPHAR:1484
has db xref: OMIM:176980
has db xref: Reactome:P05129
has db xref: SwissProt:P05129
symbol: PRKCG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98763
subclass of: Restriction
  has value: 19q13.42
  on property: Orphanet C040

protein kinase C substrate 80K-H
alternative term: GIIB
alternative term: VASAP-60
alternative term: advanced glycation end-product receptor 2
alternative term: glucosidase 2 subunit beta
alternative term: glucosidase II beta subunit
alternative term: hepatocystin
has db xref: Ensembl:ENSG00000130175
has db xref: Genatlas:PRKCSH
has db xref: HGNC:9411
has db xref: OMIM:177060
has db xref: Reactome:P14314
has db xref: SwissProt:P14314
symbol: PRKCSH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2924
subclass of: Restriction
  has value: 19p13.2
  on property: Orphanet C040

prion protein
alternative term: AltPrP
alternative term: CD230
alternative term: Creutzfeldt-Jakob disease
alternative term: Gerstmann-Strausler-Scheinker syndrome
alternative term: PRP
alternative term: fatal familial insomnia
alternative term: p27-30
has db xref: Ensembl:ENSG00000171867
has db xref: Genatlas:PRNP
has db xref: HGNC:9449
has db xref: OMIM:176640
has db xref: Reactome:P04156
has db xref: SwissProt:P04156
symbol: PRNP
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_157941
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280397
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_282166
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 356
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_397606
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 466
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_454745
subclass of: Restriction
  has value: 20p13
  on property: Orphanet C040

protein C, inactivator of coagulation factors Va and VIIIa
alternative term: prepro-protein C
has db xref: Ensembl:ENSG00000115718
has db xref: Genatlas:PROC
has db xref: HGNC:9451
has db xref: IUPHAR:2396
has db xref: OMIM:612283
has db xref: Reactome:P04070
has db xref: SwissProt:P04070
symbol: PROC
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 745
subclass of: Restriction
  has value: 2q14.3
  on property: Orphanet C040

proline dehydrogenase 1
alternative term: HSPOX2
alternative term: PIG6
alternative term: PRODH1
alternative term: PRODH2
alternative term: TP53I6
alternative term: proline oxidase
has db xref: Ensembl:ENSG00000100033
has db xref: Genatlas:PRODH
has db xref: HGNC:9453
has db xref: OMIM:606810
has db xref: Reactome:O43272
has db xref: SwissProt:O43272
symbol: PRODH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 419
subclass of: Restriction
  has value: 22q11.21
  on property: Orphanet C040

prokineticin 2
alternative term: BV8
alternative term: KAL4
alternative term: MIT1
alternative term: PK2
alternative term: protein Bv8 homolog
has db xref: Ensembl:ENSG00000163421
has db xref: Genatlas:PROK2
has db xref: HGNC:18455
has db xref: OMIM:607002
has db xref: Reactome:Q9HC23
has db xref: SwissProt:Q9HC23
symbol: PROK2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 432
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 478
subclass of: Restriction
  has value: 3p13
  on property: Orphanet C040

prokineticin receptor 2
alternative term: GPR73b
alternative term: GPRg2
alternative term: PKR2
alternative term: dJ680N4.3
has db xref: Ensembl:ENSG00000101292
has db xref: Genatlas:PROKR2
has db xref: HGNC:15836
has db xref: IUPHAR:336
has db xref: OMIM:607123
has db xref: Reactome:Q8NFJ6
has db xref: SwissProt:Q8NFJ6
symbol: PROKR2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3157
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_95496
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 432
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 478
subclass of: Restriction
  has value: 20p12.3
  on property: Orphanet C040

PROP paired-like homeobox 1
has db xref: Ensembl:ENSG00000175325
has db xref: Genatlas:PROP1
has db xref: HGNC:9455
has db xref: OMIM:601538
has db xref: Reactome:O75360
has db xref: SwissProt:O75360
symbol: PROP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_226307
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90695
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_95494
subclass of: Restriction
  has value: 5q35.3
  on property: Orphanet C040

protein S
has db xref: Ensembl:ENSG00000184500
has db xref: Genatlas:PROS1
has db xref: HGNC:9456
has db xref: OMIM:176880
has db xref: Reactome:P07225
has db xref: SwissProt:P07225
symbol: PROS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 743
subclass of: Restriction
  has value: 3q11.1
  on property: Orphanet C040

pre-mRNA processing factor 3
alternative term: HPRP3
alternative term: Prp3
alternative term: SNRNP90
has db xref: Ensembl:ENSG00000117360
has db xref: Genatlas:PRPF3
has db xref: HGNC:17348
has db xref: OMIM:607301
has db xref: Reactome:O43395
has db xref: SwissProt:O43395
symbol: PRPF3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 1q21.2
  on property: Orphanet C040

pre-mRNA processing factor 31
alternative term: NY-BR-99
alternative term: PRP31
alternative term: SNRNP61
alternative term: hPrp31
has db xref: Ensembl:ENSG00000105618
has db xref: Genatlas:PRPF31
has db xref: HGNC:15446
has db xref: OMIM:606419
has db xref: Reactome:Q8WWY3
has db xref: SwissProt:Q8WWY3
symbol: PRPF31
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 19q13.42
  on property: Orphanet C040

pre-mRNA processing factor 8
alternative term: PRPC8
alternative term: Prp8
alternative term: SNRNP220
alternative term: hPrp8
has db xref: Ensembl:ENSG00000174231
has db xref: Genatlas:PRPF8
has db xref: HGNC:17340
has db xref: OMIM:607300
has db xref: Reactome:Q6P2Q9
has db xref: SwissProt:Q6P2Q9
symbol: PRPF8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 17p13.3
  on property: Orphanet C040

peripherin 2
alternative term: CACD2
alternative term: TSPAN22
alternative term: rd2
alternative term: retinal peripherin
has db xref: Ensembl:ENSG00000112619
has db xref: Genatlas:PRPH2
has db xref: HGNC:9942
has db xref: OMIM:179605
has db xref: SwissProt:P23942
symbol: PRPH2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1872
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_52427
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_75377
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99000
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99001
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99003
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_227796
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 827
subclass of: Restriction
  has value: 6p21.1
  on property: Orphanet C040

phosphoribosyl pyrophosphate synthetase 1
alternative term: CMTX5
alternative term: DFNX1
alternative term: PRS I
alternative term: ribose-phosphate diphosphokinase 1
has db xref: Ensembl:ENSG00000147224
has db xref: Genatlas:PRPS1
has db xref: HGNC:9462
has db xref: OMIM:311850
has db xref: Reactome:P60891
has db xref: SwissProt:P60891
symbol: PRPS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_411536
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90625
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99014
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Lethal ataxia with deafness and optic atrophy
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_423479
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_411543
subclass of: Restriction
  has value: Xq22.3
  on property: Orphanet C040

serine protease 1
has db xref: Ensembl:ENSG00000204983
has db xref: Genatlas:PRSS1
has db xref: HGNC:9475
has db xref: IUPHAR:2397
has db xref: OMIM:276000
has db xref: Reactome:P07477
has db xref: SwissProt:P07477
symbol: PRSS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 676
subclass of: Restriction
  has value: 7q34
  on property: Orphanet C040

serine protease 12
alternative term: BSSP-3
alternative term: MRT1
alternative term: motopsin
alternative term: neurotrypsin
has db xref: Ensembl:ENSG00000164099
has db xref: Genatlas:PRSS12
has db xref: HGNC:9477
has db xref: OMIM:606709
has db xref: SwissProt:P56730
symbol: PRSS12
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_88616
subclass of: Restriction
  has value: 4q26
  on property: Orphanet C040

proteinase 3
alternative term: ACPA
alternative term: AGP7
alternative term: C-ANCA
alternative term: MBT
alternative term: P29
alternative term: PR-3
alternative term: Wegener granulomatosis autoantigen
alternative term: myeloblastin
alternative term: serine proteinase, neutrophil
has db xref: Ensembl:ENSG00000196415
has db xref: Genatlas:PRTN3
has db xref: HGNC:9495
has db xref: IUPHAR:2401
has db xref: OMIM:177020
has db xref: Reactome:P24158
has db xref: SwissProt:P24158
symbol: PRTN3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 900
subclass of: Restriction
  has value: 19p13.3
  on property: Orphanet C040

periaxin
alternative term: KIAA1620
has db xref: Ensembl:ENSG00000105227
has db xref: Genatlas:PRX
has db xref: HGNC:13797
has db xref: OMIM:605725
has db xref: SwissProt:Q9BXM0
symbol: PRX
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99952
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_64748
subclass of: Restriction
  has value: 19q13.2
  on property: Orphanet C040

prosaposin
alternative term: variant Gaucher disease and variant metachromatic leukodystrophy
has db xref: Ensembl:ENSG00000197746
has db xref: Genatlas:PSAP
has db xref: HGNC:9498
has db xref: OMIM:176801
has db xref: Reactome:P07602
has db xref: SwissProt:P07602
symbol: PSAP
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_139406
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_206436
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_309252
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_309256
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_309263
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_309271
subclass of: Restriction
  has value: 10q22.1
  on property: Orphanet C040

presenilin 1
alternative term: FAD
alternative term: PS1
alternative term: S182
has db xref: Ensembl:ENSG00000080815
has db xref: Genatlas:PSEN1
has db xref: HGNC:9508
has db xref: IUPHAR:2402
has db xref: OMIM:104311
has db xref: Reactome:P49768
has db xref: SwissProt:P49768
symbol: PSEN1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Semantic dementia
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Progressive non-fluent aphasia
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Early-onset autosomal dominant Alzheimer disease
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 154
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_275864
subclass of: Restriction
  has value: 14q24.2
  on property: Orphanet C040

presenilin 2
alternative term: AD3L
alternative term: PS2
alternative term: STM2
has db xref: Ensembl:ENSG00000143801
has db xref: Genatlas:PSEN2
has db xref: HGNC:9509
has db xref: IUPHAR:2403
has db xref: OMIM:600759
has db xref: Reactome:P49810
has db xref: SwissProt:P49810
symbol: PSEN2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Early-onset autosomal dominant Alzheimer disease
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 154
subclass of: Restriction
  has value: 1q42.13
  on property: Orphanet C040

phosphoserine phosphatase
has db xref: Ensembl:ENSG00000146733
has db xref: Genatlas:PSPH
has db xref: HGNC:9577
has db xref: OMIM:172480
has db xref: Reactome:P78330
has db xref: SwissProt:P78330
symbol: PSPH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79350
subclass of: Restriction
  has value: 7p11.2
  on property: Orphanet C040

proline-serine-threonine phosphatase interacting protein 1
alternative term: CD2 antigen-binding protein 1
alternative term: CD2 cytoplasmic tail-binding protein
alternative term: CD2BP1
alternative term: CD2BP1L
alternative term: CD2BP1S
alternative term: H-PIP
alternative term: PAPAS
alternative term: PEST phosphatase-interacting protein 1
alternative term: PSTPIP
has db xref: Ensembl:ENSG00000140368
has db xref: Genatlas:PSTPIP1
has db xref: HGNC:9580
has db xref: OMIM:606347
has db xref: Reactome:O43586
has db xref: SwissProt:O43586
symbol: PSTPIP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_251523
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_69126
subclass of: Restriction
  has value: 15q24.3
  on property: Orphanet C040

patched 1
alternative term: BCNS
has db xref: Ensembl:ENSG00000185920
has db xref: Genatlas:PTCH1
has db xref: HGNC:9585
has db xref: OMIM:601309
has db xref: Reactome:Q13635
has db xref: SwissProt:Q13635
symbol: PTCH1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_220386
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280195
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280200
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93924
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93925
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93926
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_77301
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 377
subclass of: Restriction
  has value: 9q22.32
  on property: Orphanet C040

patched 2
has db xref: Ensembl:ENSG00000117425
has db xref: Genatlas:PTCH2
has db xref: HGNC:9586
has db xref: OMIM:603673
has db xref: Reactome:Q9Y6C5
has db xref: SwissProt:Q9Y6C5
symbol: PTCH2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_141276
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 377
subclass of: Restriction
  has value: 1p34.1
  on property: Orphanet C040

phosphatase and tensin homolog
alternative term: MMAC1
alternative term: PTEN1
alternative term: TEP1
alternative term: mutated in multiple advanced cancers 1
has db xref: Ensembl:ENSG00000171862
has db xref: Genatlas:PTEN
has db xref: HGNC:9588
has db xref: OMIM:601728
has db xref: Reactome:P60484
has db xref: SwissProt:P60484
symbol: PTEN
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bannayan-Riley-Ruvalcaba syndrome
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_137608
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_210548
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2969
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 744
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_494547
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_494550
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_500464
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_500478
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_500481
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_502363
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_502366
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_79076
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 145
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 201
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_397596
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_65285
subclass of: Restriction
  has value: 10q23.31
  on property: Orphanet C040

pancreas associated transcription factor 1a
alternative term: PTF1-p48
alternative term: bHLHa29
alternative term: p48
has db xref: Ensembl:ENSG00000168267
has db xref: Genatlas:PTF1A
has db xref: HGNC:23734
has db xref: OMIM:607194
has db xref: Reactome:Q7RTS3
has db xref: SwissProt:Q7RTS3
symbol: PTF1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2805
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_65288
subclass of: Restriction
  has value: 10p12.2
  on property: Orphanet C040

parathyroid hormone
alternative term: PTH1
alternative term: parathormone
alternative term: parathyrin
alternative term: parathyroid hormone 1
alternative term: prepro-PTH
alternative term: preproparathyroid hormone
has db xref: Ensembl:ENSG00000152266
has db xref: Genatlas:PTH
has db xref: HGNC:9606
has db xref: OMIM:168450
has db xref: Reactome:P01270
has db xref: SwissProt:P01270
symbol: PTH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_189466
subclass of: Restriction
  has value: 11p15.3
  on property: Orphanet C040

parathyroid hormone 1 receptor
has db xref: Ensembl:ENSG00000160801
has db xref: Genatlas:PTH1R
has db xref: HGNC:9608
has db xref: IUPHAR:331
has db xref: OMIM:168468
has db xref: Reactome:Q03431
has db xref: SwissProt:Q03431
symbol: PTH1R
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_50945
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79106
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 296
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_412206
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_33067
subclass of: Restriction
  has value: 3p21.31
  on property: Orphanet C040

protein tyrosine phosphatase, non-receptor type 11
alternative term: BPTP3
alternative term: PTP2C
alternative term: SH-PTP2
alternative term: SHP-2
alternative term: SHP2
has db xref: Ensembl:ENSG00000179295
has db xref: Genatlas:PTPN11
has db xref: HGNC:9644
has db xref: OMIM:176876
has db xref: Reactome:Q06124
has db xref: SwissProt:Q06124
symbol: PTPN11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 500
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 648
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_86834
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 2499
subclass of: Restriction
  has value: 12q24.13
  on property: Orphanet C040

protein tyrosine phosphatase, receptor type C
alternative term: GP180
alternative term: LCA
alternative term: T200
has db xref: Ensembl:ENSG00000081237
has db xref: Genatlas:PTPRC
has db xref: HGNC:9666
has db xref: OMIM:151460
has db xref: Reactome:P08575
has db xref: SwissProt:P08575
symbol: PTPRC
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_169157
subclass of: Restriction
  has value: 1q31.3-q32.1
  on property: Orphanet C040

6-pyruvoyltetrahydropterin synthase
alternative term: PTPS
has db xref: Ensembl:ENSG00000150787
has db xref: Genatlas:PTS
has db xref: HGNC:9689
has db xref: OMIM:612719
has db xref: Reactome:Q03393
has db xref: SwissProt:Q03393
symbol: PTS
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 13
subclass of: Restriction
  has value: 11q22.3
  on property: Orphanet C040

pseudouridylate synthase 1
alternative term: tRNA pseudouridine(38-40) synthase
has db xref: Ensembl:ENSG00000177192
has db xref: Genatlas:PUS1
has db xref: HGNC:15508
has db xref: OMIM:608109
has db xref: Reactome:Q9Y606
has db xref: SwissProt:Q9Y606
symbol: PUS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2598
subclass of: Restriction
  has value: 12q24.33
  on property: Orphanet C040

nectin cell adhesion molecule 1
alternative term: CD111
alternative term: CLPED1
alternative term: HIgR
alternative term: OFC7
alternative term: PRR
alternative term: PRR1
alternative term: PVRR1
alternative term: SK-12
alternative term: nectin
has db xref: Ensembl:ENSG00000110400
has db xref: Genatlas:PVRL1
has db xref: HGNC:9706
has db xref: OMIM:600644
has db xref: Reactome:Q15223
has db xref: SwissProt:Q15223
symbol: NECTIN1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3253
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_141291
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_199302
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_199306
subclass of: Restriction
  has value: 11q23.3
  on property: Orphanet C040

peroxisomal biogenesis factor 2
alternative term: PAF-1
alternative term: PMP35
alternative term: RNF72
alternative term: ZWS3
alternative term: Zellweger syndrome
alternative term: peroxin 2
has db xref: Ensembl:ENSG00000164751
has db xref: Genatlas:PXMP3
has db xref: HGNC:9717
has db xref: OMIM:170993
has db xref: Reactome:P28328
has db xref: SwissProt:P28328
symbol: PEX2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 44
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 772
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 912
subclass of: Restriction
  has value: 8q21.13
  on property: Orphanet C040

glycogen phosphorylase L
alternative term: Hers disease
alternative term: glycogen phosphorylase, liver form
alternative term: glycogen storage disease type VI
has db xref: Ensembl:ENSG00000100504
has db xref: Genatlas:PYGL
has db xref: HGNC:9725
has db xref: OMIM:613741
has db xref: Reactome:P06737
has db xref: SwissProt:P06737
symbol: PYGL
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 369
subclass of: Restriction
  has value: 14q22.1
  on property: Orphanet C040

glycogen phosphorylase, muscle associated
alternative term: McArdle syndrome
alternative term: glycogen phosphorylase, muscle form
alternative term: glycogen storage disease type V
alternative term: myophosphorylase
has db xref: Ensembl:ENSG00000068976
has db xref: Genatlas:PYGM
has db xref: HGNC:9726
has db xref: OMIM:608455
has db xref: Reactome:P11217
has db xref: SwissProt:P11217
symbol: PYGM
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 368
subclass of: Restriction
  has value: 11q13.1
  on property: Orphanet C040

quinoid dihydropteridine reductase
alternative term: 6,7-dihydropteridine reductase
alternative term: DHPR
alternative term: PKU2
alternative term: SDR33C1
alternative term: short chain dehydrogenase/reductase family 33C, member 1
has db xref: Ensembl:ENSG00000151552
has db xref: Genatlas:QDPR
has db xref: HGNC:9752
has db xref: OMIM:612676
has db xref: Reactome:P09417
has db xref: SwissProt:P09417
symbol: QDPR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 226
subclass of: Restriction
  has value: 4p15.32
  on property: Orphanet C040

RAB27A, member RAS oncogene family
alternative term: GS2
alternative term: HsT18676
alternative term: RAB27
alternative term: RAM
has db xref: Ensembl:ENSG00000069974
has db xref: Genatlas:RAB27A
has db xref: HGNC:9766
has db xref: OMIM:603868
has db xref: Reactome:P51159
has db xref: SwissProt:P51159
symbol: RAB27A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79477
subclass of: Restriction
  has value: 15q21.3
  on property: Orphanet C040

RAB3 GTPase activating protein catalytic subunit 1
alternative term: KIAA0066
alternative term: RAB3GAP
alternative term: RAB3GAP130
alternative term: WARBM1
has db xref: Ensembl:ENSG00000115839
has db xref: Genatlas:RAB3GAP1
has db xref: HGNC:17063
has db xref: OMIM:602536
has db xref: Reactome:Q15042
has db xref: SwissProt:Q15042
symbol: RAB3GAP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 1387
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 2510
subclass of: Restriction
  has value: 2q21.3
  on property: Orphanet C040

Spastic ataxia with congenital miosis
part of: Orphanet_316235
part of: Orphanet_519286
part of: Orphanet_522568
tree view: Orphanet_316235
tree view: Orphanet_519286
tree view: Orphanet_522568
alternative term: Autosomal dominant spastic ataxia type 7
alternative term: SPAX7
definition: Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.
definition citation: orphanet
has db xref: ICD-10:G11.4
has db xref: OMIM:108650
has db xref: UMLS:C1862441
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_316235
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519286
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522568
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:1182

RAB3 GTPase activating non-catalytic protein subunit 2
alternative term: DKFZP434D245
alternative term: KIAA0839
alternative term: RAB3-GAP150
alternative term: SPG69
has db xref: Ensembl:ENSG00000118873
has db xref: Genatlas:RAB3GAP2
has db xref: HGNC:17168
has db xref: OMIM:609275
has db xref: Reactome:Q9H2M9
has db xref: SwissProt:Q9H2M9
symbol: RAB3GAP2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_401830
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 1387
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 2510
subclass of: Restriction
  has value: 1q41
  on property: Orphanet C040

RAB7A, member RAS oncogene family
has db xref: Ensembl:ENSG00000075785
has db xref: Genatlas:RAB7A
has db xref: HGNC:9788
has db xref: OMIM:602298
has db xref: Reactome:P51149
has db xref: SwissProt:P51149
symbol: RAB7A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99936
subclass of: Restriction
  has value: 3q21.3
  on property: Orphanet C040

RAD51 recombinase
alternative term: BRCA1/BRCA2-containing complex, subunit 5
alternative term: BRCC5
alternative term: FANCR
alternative term: HsRad51
alternative term: HsT16930
has db xref: Ensembl:ENSG00000051180
has db xref: Genatlas:RAD51
has db xref: HGNC:9817
has db xref: OMIM:179617
has db xref: Reactome:Q06609
has db xref: SwissProt:Q06609
symbol: RAD51
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_238722
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 84
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 145
subclass of: Restriction
  has value: 15q15.1
  on property: Orphanet C040

recombination activating 1
alternative term: MGC43321
alternative term: RING finger protein 74
alternative term: RNF74
alternative term: V(D)J recombination-activating protein 1
alternative term: recombination activating protein 1
has db xref: Ensembl:ENSG00000166349
has db xref: Genatlas:RAG1
has db xref: HGNC:9831
has db xref: OMIM:179615
has db xref: Reactome:P15918
has db xref: SwissProt:P15918
symbol: RAG1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_157949
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_231154
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_331206
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_39041
subclass of: Restriction
  has value: 11p12
  on property: Orphanet C040

recombination activating 2
has db xref: Ensembl:ENSG00000175097
has db xref: Genatlas:RAG2
has db xref: HGNC:9832
has db xref: OMIM:179616
has db xref: Reactome:P55895
has db xref: SwissProt:P55895
symbol: RAG2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_157949
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_331206
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_39041
subclass of: Restriction
  has value: 11p13
  on property: Orphanet C040

retinoic acid induced 1
alternative term: DKFZP434A139
alternative term: KIAA1820
alternative term: MGC12824
alternative term: SMS
has db xref: Ensembl:ENSG00000108557
has db xref: Genatlas:RAI1
has db xref: HGNC:9834
has db xref: OMIM:607642
has db xref: Reactome:Q7Z5J4
has db xref: SwissProt:Q7Z5J4
symbol: RAI1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 819
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet 1713
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_477817
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet 819
subclass of: Restriction
  has value: 17p11.2
  on property: Orphanet C040

receptor associated protein of the synapse
alternative term: CMS1D
alternative term: CMS1E
alternative term: RNF205
alternative term: rapsyn
has db xref: Ensembl:ENSG00000165917
has db xref: Genatlas:RAPSN
has db xref: HGNC:9863
has db xref: OMIM:601592
has db xref: SwissProt:Q13702
symbol: RAPSN
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98913
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_33108
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 994
subclass of: Restriction
  has value: 11p11.2
  on property: Orphanet C040

retinoic acid receptor alpha
alternative term: NR1B1
alternative term: RAR
has db xref: Ensembl:ENSG00000131759
has db xref: Genatlas:RARA
has db xref: HGNC:9864
has db xref: IUPHAR:590
has db xref: OMIM:180240
has db xref: Reactome:P10276
has db xref: SwissProt:P10276
symbol: RARA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 520
subclass of: Restriction
  has value: 17q21.2
  on property: Orphanet C040

RAS p21 protein activator 1
alternative term: CM-AVM
alternative term: GAP
alternative term: capillary malformation-arteriovenous malformation
alternative term: p120
alternative term: p120 RAS GTPase activating protein
alternative term: p120GAP
alternative term: p120RASGAP
has db xref: Ensembl:ENSG00000145715
has db xref: Genatlas:RASA1
has db xref: HGNC:9871
has db xref: OMIM:139150
has db xref: Reactome:P20936
has db xref: SwissProt:P20936
symbol: RASA1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_137667
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90307
subclass of: Restriction
  has value: 5q14.3
  on property: Orphanet C040

RB transcriptional corepressor 1
alternative term: PPP1R130
alternative term: RB
alternative term: prepro-retinoblastoma-associated protein
alternative term: protein phosphatase 1, regulatory subunit 130
has db xref: Ensembl:ENSG00000139687
has db xref: Genatlas:RB1
has db xref: HGNC:9884
has db xref: OMIM:614041
has db xref: Reactome:P06400
has db xref: SwissProt:P06400
symbol: RB1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_357034
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_70573
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet 1587
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 668
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_357027
subclass of: Restriction
  has value: 13q14.2
  on property: Orphanet C040

retinal degeneration 3
alternative term: LCA12
has db xref: Ensembl:ENSG00000198570
has db xref: Genatlas:RD3
has db xref: HGNC:19689
has db xref: OMIM:180040
has db xref: Reactome:Q7Z3Z2
has db xref: SwissProt:Q7Z3Z2
symbol: RD3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 65
subclass of: Restriction
  has value: 1q32.3
  on property: Orphanet C040

retinol dehydrogenase 12
alternative term: FLJ30273
alternative term: LCA13
alternative term: RP53
alternative term: SDR7C2
alternative term: short chain dehydrogenase/reductase family 7C, member 2
has db xref: Ensembl:ENSG00000139988
has db xref: Genatlas:RDH12
has db xref: HGNC:19977
has db xref: OMIM:608830
has db xref: Reactome:Q96NR8
has db xref: SwissProt:Q96NR8
symbol: RDH12
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 65
subclass of: Restriction
  has value: 14q24.1
  on property: Orphanet C040

retinol dehydrogenase 5
alternative term: HSD17B9
alternative term: SDR9C5
alternative term: short chain dehydrogenase/reductase family 9C, member 5
has db xref: Ensembl:ENSG00000135437
has db xref: Genatlas:RDH5
has db xref: HGNC:9940
has db xref: OMIM:601617
has db xref: Reactome:Q92781
has db xref: SwissProt:Q92781
symbol: RDH5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_227796
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_52427
subclass of: Restriction
  has value: 12q13.2
  on property: Orphanet C040

RecQ like helicase 4
alternative term: RecQ4
has db xref: Ensembl:ENSG00000160957
has db xref: Genatlas:RECQL4
has db xref: HGNC:9949
has db xref: OMIM:603780
has db xref: SwissProt:O94761
symbol: RECQL4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1225
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_221016
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3021
subclass of: Restriction
  has value: 8q24.3
  on property: Orphanet C040

receptor accessory protein 1
alternative term: FLJ13110
alternative term: SPG31
alternative term: Yip2a
alternative term: receptor expression enhancing protein 1
has db xref: Ensembl:ENSG00000068615
has db xref: Genatlas:REEP1
has db xref: HGNC:25786
has db xref: OMIM:609139
has db xref: Reactome:Q9H902
has db xref: SwissProt:Q9H902
symbol: REEP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Autosomal dominant spastic paraplegia type 31
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_139536
subclass of: Restriction
  has value: 2p11.2
  on property: Orphanet C040

reelin
alternative term: PRO1598
alternative term: RL
has db xref: Ensembl:ENSG00000189056
has db xref: Genatlas:RELN
has db xref: HGNC:9957
has db xref: OMIM:600514
has db xref: Reactome:P78509
has db xref: SwissProt:P78509
symbol: RELN
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Autosomal dominant epilepsy with auditory features
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_89844
subclass of: Restriction
  has value: 7q22.1
  on property: Orphanet C040

ret proto-oncogene
alternative term: CDHF12
alternative term: CDHR16
alternative term: PTC
alternative term: RET receptor tyrosine kinase
alternative term: RET51
alternative term: cadherin-related family member 16
alternative term: rearranged during transfection
has db xref: Ensembl:ENSG00000165731
has db xref: Genatlas:RET
has db xref: HGNC:9967
has db xref: IUPHAR:2185
has db xref: OMIM:164761
has db xref: Reactome:P07949
has db xref: SwissProt:P07949
symbol: RET
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_247698
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_247709
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93100
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99361
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99803
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_276624
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 388
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 146
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_29072
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 1848
subclass of: Restriction
  has value: 10q11.21
  on property: Orphanet C040

replication factor C subunit 2
alternative term: A1
alternative term: RFC40
alternative term: activator 1
has db xref: Ensembl:ENSG00000049541
has db xref: Genatlas:RFC2
has db xref: HGNC:9970
has db xref: OMIM:600404
has db xref: Reactome:P35250
has db xref: SwissProt:P35250
symbol: RFC2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet 904
subclass of: Restriction
  has value: 7q11.23
  on property: Orphanet C040

regulatory factor X5
has db xref: Ensembl:ENSG00000143390
has db xref: Genatlas:RFX5
has db xref: HGNC:9986
has db xref: OMIM:601863
has db xref: Reactome:P48382
has db xref: SwissProt:P48382
symbol: RFX5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 572
subclass of: Restriction
  has value: 1q21.3
  on property: Orphanet C040

regulatory factor X associated ankyrin containing protein
alternative term: ANKRA1
alternative term: BLS
alternative term: DNA-binding protein RFXANK
alternative term: F14150_1
alternative term: MGC138628
alternative term: RFX-B
alternative term: RFX-Bdelta4
alternative term: ankyrin repeat-containing regulatory factor X-associated protein
alternative term: regulatory factor X subunit B
has db xref: Ensembl:ENSG00000064490
has db xref: Genatlas:RFXANK
has db xref: HGNC:9987
has db xref: OMIM:603200
has db xref: SwissProt:O14593
symbol: RFXANK
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 572
subclass of: Restriction
  has value: 19p13.11
  on property: Orphanet C040

regulatory factor X associated protein
has db xref: Ensembl:ENSG00000133111
has db xref: Genatlas:RFXAP
has db xref: HGNC:9988
has db xref: OMIM:601861
has db xref: SwissProt:O00287
symbol: RFXAP
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 572
subclass of: Restriction
  has value: 13q13.3
  on property: Orphanet C040

retinal G protein coupled receptor
alternative term: RGR-opsin
alternative term: RP44
has db xref: Ensembl:ENSG00000148604
has db xref: Genatlas:RGR
has db xref: HGNC:9990
has db xref: OMIM:600342
has db xref: Reactome:P47804
has db xref: SwissProt:P47804
symbol: RGR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 10q23.1
  on property: Orphanet C040

regulator of G protein signaling 9
alternative term: MGC111763
alternative term: MGC26458
alternative term: PERRS
alternative term: RGS9L
alternative term: regulator of G protein signalling 9
alternative term: regulator of G protein signalling 9L
alternative term: regulator of G-protein signaling 9L
has db xref: Ensembl:ENSG00000108370
has db xref: Genatlas:RGS9
has db xref: HGNC:10004
has db xref: OMIM:604067
has db xref: Reactome:O75916
has db xref: SwissProt:O75916
symbol: RGS9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_75374
subclass of: Restriction
  has value: 17q24.1
  on property: Orphanet C040

Opsoclonus-myoclonus syndrome
part of: Brain inflammatory disease
part of: Orphanet_306753
part of: Orphanet_36388
part of: Orphanet_519341
tree view: Brain inflammatory disease
tree view: Orphanet_306753
tree view: Orphanet_36388
tree view: Orphanet_519341
alternative term: Ataxo-opso-myoclonus syndrome
alternative term: Dancing eye syndrome
alternative term: Dancing eye-dancing feet syndrome
alternative term: Kinsbourne syndrome
alternative term: OMA syndrome
alternative term: OMS
alternative term: Opsoclonus-myoclonus-ataxia syndrome
alternative term: POMA syndrome
alternative term: Paraneoplastic opsoclonus-myoclonus
alternative term: Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
definition: Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.
definition citation: orphanet
has db xref: ICD-10:G25.3
has db xref: MeSH:D053578
has db xref: MedDRA:10053854
has db xref: UMLS:C0393626
has db xref: UMLS:C1096154
has db xref: UMLS:C1721017
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409979
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    has value: 0.02
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C020
    some values from: Orphanet_409979
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    has value: 0.018
    on property: Orphanet C032
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Brain inflammatory disease
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306753
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_36388
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519341
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409941
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1183

regulator of G protein signaling 9 binding protein
alternative term: FLJ45744
alternative term: PERRS
alternative term: R9AP
alternative term: RGS9
has db xref: Ensembl:ENSG00000186326
has db xref: Genatlas:RGS9BP
has db xref: HGNC:30304
has db xref: OMIM:607814
has db xref: Reactome:Q6ZS82
has db xref: SwissProt:Q6ZS82
symbol: RGS9BP
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_75374
subclass of: Restriction
  has value: 19q13.11
  on property: Orphanet C040

Rh associated glycoprotein
alternative term: CD241
alternative term: RH50A
alternative term: SLC42A1
has db xref: Ensembl:ENSG00000112077
has db xref: Genatlas:RHAG
has db xref: HGNC:10006
has db xref: OMIM:180297
has db xref: Reactome:Q02094
has db xref: SwissProt:Q02094
symbol: RHAG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3203
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_71275
subclass of: Restriction
  has value: 6p12.3
  on property: Orphanet C040

Rh blood group CcEe antigens
alternative term: CD240CE
has db xref: Ensembl:ENSG00000188672
has db xref: Genatlas:RHCE
has db xref: HGNC:10008
has db xref: OMIM:111700
has db xref: SwissProt:P18577
symbol: RHCE
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_71275
subclass of: Restriction
  has value: 1p36.11
  on property: Orphanet C040

rhodopsin
alternative term: CSNBAD1
alternative term: OPN2
alternative term: opsin 2, rod pigment
has db xref: Ensembl:ENSG00000163914
has db xref: Genatlas:RHO
has db xref: HGNC:10012
has db xref: OMIM:180380
has db xref: Reactome:P08100
has db xref: SwissProt:P08100
symbol: RHO
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 215
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_52427
subclass of: Restriction
  has value: 3q22.1
  on property: Orphanet C040

regulating synaptic membrane exocytosis 1
alternative term: KIAA0340
alternative term: RIM
alternative term: RIM1
alternative term: Rab3-interacting molecule
has db xref: Ensembl:ENSG00000079841
has db xref: Genatlas:RIMS1
has db xref: HGNC:17282
has db xref: OMIM:606629
has db xref: Reactome:Q86UR5
has db xref: SwissProt:Q86UR5
symbol: RIMS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1872
subclass of: Restriction
  has value: 6q13
  on property: Orphanet C040

retinaldehyde binding protein 1
alternative term: CRALBP
has db xref: Ensembl:ENSG00000140522
has db xref: Genatlas:RLBP1
has db xref: HGNC:10024
has db xref: OMIM:180090
has db xref: Reactome:P12271
has db xref: SwissProt:P12271
symbol: RLBP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_227796
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_52427
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_85128
subclass of: Restriction
  has value: 15q26.1
  on property: Orphanet C040

ribonuclease H2 subunit A
alternative term: AGS4
alternative term: RNASEHI
alternative term: RNHIA
alternative term: RNHL
has db xref: Ensembl:ENSG00000104889
has db xref: Genatlas:RNASEH2A
has db xref: HGNC:18518
has db xref: OMIM:606034
has db xref: SwissProt:O75792
symbol: RNASEH2A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 51
subclass of: Restriction
  has value: 19p13.13
  on property: Orphanet C040

ribonuclease H2 subunit B
alternative term: FLJ11712
has db xref: Ensembl:ENSG00000136104
has db xref: Genatlas:RNASEH2B
has db xref: HGNC:25671
has db xref: OMIM:610326
has db xref: SwissProt:Q5TBB1
symbol: RNASEH2B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 51
subclass of: Restriction
  has value: 13q14.3
  on property: Orphanet C040

ribonuclease H2 subunit C
alternative term: AGS3
alternative term: AYP1
alternative term: Aicardi-Goutieres syndrome 3
has db xref: Ensembl:ENSG00000172922
has db xref: Genatlas:RNASEH2C
has db xref: HGNC:24116
has db xref: OMIM:610330
has db xref: SwissProt:Q8TDP1
symbol: RNASEH2C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 51
subclass of: Restriction
  has value: 11q13.1
  on property: Orphanet C040

ribonuclease L
has db xref: Ensembl:ENSG00000135828
has db xref: Genatlas:RNASEL
has db xref: HGNC:10050
has db xref: OMIM:180435
has db xref: Reactome:Q05823
has db xref: SwissProt:Q05823
symbol: RNASEL
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 1331
subclass of: Restriction
  has value: 1q25.3
  on property: Orphanet C040

ring finger protein 139
alternative term: HRCA1
alternative term: RCA1
alternative term: TRC8
alternative term: translocation in renal carcinoma, chromosome 8
has db xref: Ensembl:ENSG00000170881
has db xref: Genatlas:RNF139
has db xref: HGNC:17023
has db xref: OMIM:603046
has db xref: Reactome:Q8WU17
has db xref: SwissProt:Q8WU17
symbol: RNF139
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_422526
subclass of: Restriction
  has value: 8q24.13
  on property: Orphanet C040

roundabout guidance receptor 3
alternative term: FLJ21044
alternative term: HGPS
alternative term: RBIG1
has db xref: Ensembl:ENSG00000154134
has db xref: Genatlas:ROBO3
has db xref: HGNC:13433
has db xref: OMIM:608630
has db xref: Reactome:Q96MS0
has db xref: SwissProt:Q96MS0
symbol: ROBO3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2744
subclass of: Restriction
  has value: 11q24.2
  on property: Orphanet C040

retinal outer segment membrane protein 1
alternative term: ROM
alternative term: TSPAN23
has db xref: Ensembl:ENSG00000149489
has db xref: Genatlas:ROM1
has db xref: HGNC:10254
has db xref: OMIM:180721
has db xref: SwissProt:Q03395
symbol: ROM1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 11q13
  on property: Orphanet C040

receptor tyrosine kinase like orphan receptor 2
has db xref: Ensembl:ENSG00000169071
has db xref: Genatlas:ROR2
has db xref: HGNC:10257
has db xref: IUPHAR:1846
has db xref: OMIM:602337
has db xref: Reactome:Q01974
has db xref: SwissProt:Q01974
symbol: ROR2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 1507
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_93383
subclass of: Restriction
  has value: 9q22.31
  on property: Orphanet C040

RP1, axonemal microtubule associated
alternative term: DCDC4A
alternative term: ORP1
alternative term: doublecortin domain containing 4A
alternative term: oxygen-regulated protein 1
has db xref: Ensembl:ENSG00000104237
has db xref: Genatlas:RP1
has db xref: HGNC:10263
has db xref: OMIM:603937
has db xref: SwissProt:P56715
symbol: RP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 8q11.23-q12.1
  on property: Orphanet C040

RP2, ARL3 GTPase activating protein
alternative term: NM23-H10
alternative term: NME10
alternative term: TBCCD2
has db xref: Ensembl:ENSG00000102218
has db xref: Genatlas:RP2
has db xref: HGNC:10274
has db xref: OMIM:300757
has db xref: Reactome:O75695
has db xref: SwissProt:O75695
symbol: RP2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: Xp11.3
  on property: Orphanet C040

RP9, pre-mRNA splicing factor
alternative term: PAP-1
alternative term: Pim-1 kinase associated protein
has db xref: Ensembl:ENSG00000164610
has db xref: Genatlas:RP9
has db xref: HGNC:10288
has db xref: OMIM:607331
has db xref: Reactome:Q8TA86
has db xref: SwissProt:Q8TA86
symbol: RP9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 7p14.3
  on property: Orphanet C040

RPE65, retinoid isomerohydrolase
alternative term: BCO family, member 3
alternative term: BCO3
alternative term: LCA2
alternative term: all-trans-retinyl-palmitate hydrolase
alternative term: rd12
alternative term: retinol isomerase
has db xref: Ensembl:ENSG00000116745
has db xref: Genatlas:RPE65
has db xref: HGNC:10294
has db xref: OMIM:180069
has db xref: Reactome:Q16518
has db xref: SwissProt:Q16518
symbol: RPE65
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_364055
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 65
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 1p31.3
  on property: Orphanet C040

retinitis pigmentosa GTPase regulator
alternative term: CORDX1
has db xref: Ensembl:ENSG00000156313
has db xref: Genatlas:RPGR
has db xref: HGNC:10295
has db xref: OMIM:312610
has db xref: Reactome:Q92834
has db xref: SwissProt:Q92834
symbol: RPGR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1872
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 244
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_247522
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_49382
subclass of: Restriction
  has value: Xp11.4
  on property: Orphanet C040

RPGR interacting protein 1
alternative term: CORD13
alternative term: LCA6
alternative term: RGI1
has db xref: Ensembl:ENSG00000092200
has db xref: Genatlas:RPGRIP1
has db xref: HGNC:13436
has db xref: OMIM:605446
has db xref: Reactome:Q96KN7
has db xref: SwissProt:Q96KN7
symbol: RPGRIP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1872
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 564
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 65
subclass of: Restriction
  has value: 14q11.2
  on property: Orphanet C040

ribosomal protein L10
alternative term: DXS648
alternative term: DXS648E
alternative term: FLJ23544
alternative term: L10
alternative term: NOV
alternative term: QM
has db xref: Ensembl:ENSG00000147403
has db xref: Genatlas:RPL10
has db xref: HGNC:10298
has db xref: OMIM:312173
has db xref: Reactome:P27635
has db xref: SwissProt:P27635
symbol: RPL10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_459070
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_435938
subclass of: Restriction
  has value: Xq28
  on property: Orphanet C040

Ataxia-photosensitivity-short stature syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Orphanet_183518
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Orphanet_183518
alternative term: Fenton-Wilkinson-Toselano syndrome
definition: Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
definition citation: orphanet
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409939
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1184

ribosomal protein S19
alternative term: DBA
alternative term: Diamond-Blackfan anemia
alternative term: S19
alternative term: eS19
has db xref: Ensembl:ENSG00000105372
has db xref: Genatlas:RPS19
has db xref: HGNC:10402
has db xref: OMIM:603474
has db xref: Reactome:P39019
has db xref: SwissProt:P39019
symbol: RPS19
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 124
subclass of: Restriction
  has value: 19q13.2
  on property: Orphanet C040

ribosomal protein S24
alternative term: S24
alternative term: eS24
has db xref: Ensembl:ENSG00000138326
has db xref: Genatlas:RPS24
has db xref: HGNC:10411
has db xref: OMIM:602412
has db xref: Reactome:P62847
has db xref: SwissProt:P62847
symbol: RPS24
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 124
subclass of: Restriction
  has value: 10q22.3
  on property: Orphanet C040

ribosomal protein S6 kinase A3
alternative term: HU-3
alternative term: RSK
alternative term: RSK2
has db xref: Ensembl:ENSG00000177189
has db xref: Genatlas:RPS6KA3
has db xref: HGNC:10432
has db xref: IUPHAR:1528
has db xref: OMIM:300075
has db xref: Reactome:P51812
has db xref: SwissProt:P51812
symbol: RPS6KA3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 192
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_276630
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 777
subclass of: Restriction
  has value: Xp22.12
  on property: Orphanet C040

retinoschisin 1
alternative term: XLRS1
has db xref: Ensembl:ENSG00000102104
has db xref: Genatlas:RS1
has db xref: HGNC:10457
has db xref: OMIM:300839
has db xref: SwissProt:O15537
symbol: RS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 792
subclass of: Restriction
  has value: Xp22.13
  on property: Orphanet C040

R-spondin 1
alternative term: FLJ40906
alternative term: RSPONDIN
has db xref: Ensembl:ENSG00000169218
has db xref: Genatlas:RSPO1
has db xref: HGNC:21679
has db xref: OMIM:609595
has db xref: Reactome:Q2MKA7
has db xref: SwissProt:Q2MKA7
symbol: RSPO1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_85112
subclass of: Restriction
  has value: 1p34.3
  on property: Orphanet C040

R-spondin 4
alternative term: dJ824F16.3
has db xref: Ensembl:ENSG00000101282
has db xref: Genatlas:RSPO4
has db xref: HGNC:16175
has db xref: OMIM:610573
has db xref: Reactome:Q2I0M5
has db xref: SwissProt:Q2I0M5
symbol: RSPO4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_94150
subclass of: Restriction
  has value: 20p13
  on property: Orphanet C040

runt related transcription factor 1
alternative term: AMLCR1
alternative term: PEBP2A2
alternative term: aml1 oncogene
has db xref: Ensembl:ENSG00000159216
has db xref: Genatlas:RUNX1
has db xref: HGNC:10471
has db xref: OMIM:151385
has db xref: Reactome:Q01196
has db xref: SwissProt:Q01196
symbol: RUNX1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_248340
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_71290
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_99860
subclass of: Restriction
  on property: Orphanet_465410
  some values from: Orphanet 521
subclass of: Restriction
  has value: 21q22.12
  on property: Orphanet C040

runt related transcription factor 2
alternative term: AML3
alternative term: PEBP2A1
alternative term: PEBP2aA1
has db xref: Ensembl:ENSG00000124813
has db xref: Genatlas:RUNX2
has db xref: HGNC:10472
has db xref: OMIM:600211
has db xref: Reactome:Q13950
has db xref: SwissProt:Q13950
symbol: RUNX2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1452
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 2504
subclass of: Restriction
  has value: 6p21.1
  on property: Orphanet C040

ryanodine receptor 1
alternative term: PPP1R137
alternative term: RYR
alternative term: protein phosphatase 1, regulatory subunit 137
has db xref: Ensembl:ENSG00000196218
has db xref: Genatlas:RYR1
has db xref: HGNC:10483
has db xref: IUPHAR:747
has db xref: OMIM:180901
has db xref: Reactome:P21817
has db xref: SwissProt:P21817
symbol: RYR1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_169186
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_178145
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_324581
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_33108
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 423
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_424107
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 597
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98905
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99741
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_466650
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_169189
subclass of: Restriction
  has value: 19q13.2
  on property: Orphanet C040

ryanodine receptor 2
alternative term: ARVC2
alternative term: VTSIP
has db xref: Ensembl:ENSG00000198626
has db xref: Genatlas:RYR2
has db xref: HGNC:10484
has db xref: OMIM:180902
has db xref: Reactome:Q92736
has db xref: SwissProt:Q92736
symbol: RYR2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293888
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293899
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293910
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3286
subclass of: Restriction
  has value: 1q43
  on property: Orphanet C040

sacsin molecular chaperone
alternative term: ARSACS
alternative term: DKFZp686B15167
alternative term: DNAJC29
alternative term: KIAA0730
alternative term: PPP1R138
alternative term: SPAX6
alternative term: protein phosphatase 1, regulatory subunit 138
has db xref: Ensembl:ENSG00000151835
has db xref: Genatlas:SACS
has db xref: HGNC:10519
has db xref: OMIM:604490
has db xref: SwissProt:Q9NZJ4
symbol: SACS
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 98
subclass of: Restriction
  has value: 13q12.12
  on property: Orphanet C040

S-antigen visual arrestin
alternative term: ARRESTIN
alternative term: RP47
alternative term: arrestin 1
alternative term: rod arrestin
has db xref: Ensembl:ENSG00000130561
has db xref: Genatlas:SAG
has db xref: HGNC:10521
has db xref: OMIM:181031
has db xref: Reactome:P10523
has db xref: SwissProt:P10523
symbol: SAG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 215
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_75382
subclass of: Restriction
  has value: 2q37.1
  on property: Orphanet C040

spalt like transcription factor 1
alternative term: Hsal1
alternative term: ZNF794
has db xref: Ensembl:ENSG00000103449
has db xref: Genatlas:SALL1
has db xref: HGNC:10524
has db xref: OMIM:602218
has db xref: Reactome:Q9NSC2
has db xref: SwissProt:Q9NSC2
symbol: SALL1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 857
subclass of: Restriction
  has value: 16q12.1
  on property: Orphanet C040

spalt like transcription factor 4
alternative term: ZNF797
alternative term: dJ1112F19.1
has db xref: Ensembl:ENSG00000101115
has db xref: Genatlas:SALL4
has db xref: HGNC:15924
has db xref: OMIM:607343
has db xref: Reactome:Q9UJQ4
has db xref: SwissProt:Q9UJQ4
symbol: SALL4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2307
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_261647
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 959
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_261638
subclass of: Restriction
  has value: 20q13.2
  on property: Orphanet C040

sterile alpha motif domain containing 9
alternative term: FLJ20073
alternative term: KIAA2004
has db xref: Ensembl:ENSG00000205413
has db xref: Genatlas:SAMD9
has db xref: HGNC:1348
has db xref: OMIM:610456
has db xref: SwissProt:Q5K651
symbol: SAMD9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_494433
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_306658
subclass of: Restriction
  has value: 7q21.2
  on property: Orphanet C040

secretion associated Ras related GTPase 1B
has db xref: Ensembl:ENSG00000152700
has db xref: Genatlas:SAR1B
has db xref: HGNC:10535
has db xref: OMIM:607690
has db xref: Reactome:Q9Y6B6
has db xref: SwissProt:Q9Y6B6
symbol: SAR1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 71
subclass of: Restriction
  has value: 5q31.1
  on property: Orphanet C040

sarcosine dehydrogenase
alternative term: SDH
has db xref: Ensembl:ENSG00000123453
has db xref: Genatlas:SARDH
has db xref: HGNC:10536
has db xref: OMIM:604455
has db xref: Reactome:Q9UL12
has db xref: SwissProt:Q9UL12
symbol: SARDH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3129
subclass of: Restriction
  has value: 9q34.2
  on property: Orphanet C040

SBDS, ribosome maturation factor
alternative term: CGI-97
alternative term: FLJ10917
alternative term: SDS
alternative term: SWDS
has db xref: Ensembl:ENSG00000126524
has db xref: Genatlas:SBDS
has db xref: HGNC:19440
has db xref: OMIM:607444
has db xref: SwissProt:Q9Y3A5
symbol: SBDS
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 811
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 88
subclass of: Restriction
  has value: 7q11.21
  on property: Orphanet C040

SET binding factor 2
alternative term: DENND7B
alternative term: KIAA1766
alternative term: MTMR13
alternative term: myotubularin related 13
has db xref: Ensembl:ENSG00000133812
has db xref: Genatlas:SBF2
has db xref: HGNC:2135
has db xref: OMIM:607697
has db xref: Reactome:Q86WG5
has db xref: SwissProt:Q86WG5
symbol: SBF2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99956
subclass of: Restriction
  has value: 11p15.4
  on property: Orphanet C040

sterol-C5-desaturase
alternative term: lathosterol oxidase
has db xref: Ensembl:ENSG00000109929
has db xref: Genatlas:SC5DL
has db xref: HGNC:10547
has db xref: OMIM:602286
has db xref: Reactome:O75845
has db xref: SwissProt:O75845
symbol: SC5D
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_46059
subclass of: Restriction
  has value: 11q23.3-q24.1
  on property: Orphanet C040

sodium voltage-gated channel alpha subunit 1
alternative term: GEFSP2
alternative term: HBSCI
alternative term: NAC1
alternative term: Nav1.1
alternative term: SMEI
has db xref: Ensembl:ENSG00000144285
has db xref: Genatlas:SCN1A
has db xref: HGNC:10585
has db xref: IUPHAR:578
has db xref: OMIM:182389
has db xref: Reactome:P35498
has db xref: SwissProt:P35498
symbol: SCN1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2382
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293181
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_33069
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_36387
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 569
subclass of: Restriction
  has value: 2q24.3
  on property: Orphanet C040

sodium voltage-gated channel beta subunit 1
has db xref: Ensembl:ENSG00000105711
has db xref: Genatlas:SCN1B
has db xref: HGNC:10586
has db xref: OMIM:600235
has db xref: Reactome:Q07699
has db xref: SwissProt:Q07699
symbol: SCN1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 130
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_36387
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 334
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_33069
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 871
subclass of: Restriction
  has value: 19q13.11
  on property: Orphanet C040

Spinocerebellar ataxia-dysmorphism syndrome
part of: Orphanet_183518
tree view: Orphanet_183518
definition: Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.
definition citation: orphanet
has db xref: ICD-10:G11.8
has db xref: OMIM:271270
has db xref: UMLS:C1849088
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 3.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1185

sodium voltage-gated channel alpha subunit 2
alternative term: HBSCI
alternative term: HBSCII
alternative term: Nav1.2
has db xref: Ensembl:ENSG00000136531
has db xref: Genatlas:SCN2A
has db xref: HGNC:10588
has db xref: IUPHAR:579
has db xref: OMIM:182390
has db xref: Reactome:Q99250
has db xref: SwissProt:Q99250
symbol: SCN2A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_140927
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 306
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_33069
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3451
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_36387
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 1934
subclass of: Restriction
  has value: 2q24.3
  on property: Orphanet C040

sodium voltage-gated channel alpha subunit 4
alternative term: HYPP
alternative term: Nav1.4
alternative term: SkM1
has db xref: Ensembl:ENSG00000007314
has db xref: Genatlas:SCN4A
has db xref: HGNC:10591
has db xref: IUPHAR:581
has db xref: OMIM:603967
has db xref: Reactome:P35499
has db xref: SwissProt:P35499
symbol: SCN4A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 681
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 684
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98913
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99734
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99735
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99736
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 682
subclass of: Restriction
  has value: 17q23.3
  on property: Orphanet C040

sodium voltage-gated channel alpha subunit 5
alternative term: CDCD2
alternative term: CMPD2
alternative term: HB1
alternative term: HB2
alternative term: HBBD
alternative term: HH1
alternative term: ICCD
alternative term: IVF
alternative term: LQT3
alternative term: Nav1.5
alternative term: PFHB1
alternative term: SSS1
alternative term: long QT syndrome 3
has db xref: Ensembl:ENSG00000183873
has db xref: Genatlas:SCN5A
has db xref: HGNC:10593
has db xref: IUPHAR:582
has db xref: OMIM:600163
has db xref: Reactome:Q14524
has db xref: SwissProt:Q14524
symbol: SCN5A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 130
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1344
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_166282
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_228140
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 871
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Romano-Ward syndrome
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 154
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 334
subclass of: Restriction
  has value: 3p22.2
  on property: Orphanet C040

sodium voltage-gated channel alpha subunit 9
alternative term: ETHA
alternative term: NE-NA
alternative term: NENA
alternative term: Nav1.7
alternative term: PN1
has db xref: Ensembl:ENSG00000169432
has db xref: Genatlas:SCN9A
has db xref: HGNC:10597
has db xref: IUPHAR:584
has db xref: OMIM:603415
has db xref: Reactome:Q15858
has db xref: SwissProt:Q15858
symbol: SCN9A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_33069
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_36387
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_88642
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 970
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 1956
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_306577
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_46348
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_90026
subclass of: Restriction
  has value: 2q24.3
  on property: Orphanet C040

sodium channel epithelial 1 alpha subunit
alternative term: ENaCalpha
alternative term: amiloride-sensitive sodium channel subunit alpha
has db xref: Ensembl:ENSG00000111319
has db xref: Genatlas:SCNN1A
has db xref: HGNC:10599
has db xref: IUPHAR:738
has db xref: OMIM:600228
has db xref: Reactome:P37088
has db xref: SwissProt:P37088
symbol: SCNN1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_60033
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_171876
subclass of: Restriction
  has value: 12p13
  on property: Orphanet C040

sodium channel epithelial 1 beta subunit
alternative term: ENaCbeta
alternative term: Liddle syndrome
alternative term: amiloride-sensitive sodium channel subunit beta
has db xref: Ensembl:ENSG00000168447
has db xref: Genatlas:SCNN1B
has db xref: HGNC:10600
has db xref: IUPHAR:739
has db xref: OMIM:600760
has db xref: Reactome:P51168
has db xref: SwissProt:P51168
symbol: SCNN1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_60033
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_171876
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 526
subclass of: Restriction
  has value: 16p12.2-p12.1
  on property: Orphanet C040

sodium channel epithelial 1 gamma subunit
alternative term: ENaCgamma
alternative term: SCNEG
alternative term: amiloride-sensitive sodium channel subunit gamma
has db xref: Ensembl:ENSG00000166828
has db xref: Genatlas:SCNN1G
has db xref: HGNC:10602
has db xref: IUPHAR:741
has db xref: OMIM:600761
has db xref: Reactome:P51170
has db xref: SwissProt:P51170
symbol: SCNN1G
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_60033
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_171876
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 526
subclass of: Restriction
  has value: 16p12.2
  on property: Orphanet C040

SCO1, cytochrome c oxidase assembly protein
has db xref: Ensembl:ENSG00000133028
has db xref: Genatlas:SCO1
has db xref: HGNC:10603
has db xref: OMIM:603644
has db xref: Reactome:O75880
has db xref: SwissProt:O75880
symbol: SCO1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1561
subclass of: Restriction
  has value: 17p13.1
  on property: Orphanet C040

SCO2, cytochrome c oxidase assembly protein
alternative term: SCO1L
has db xref: Ensembl:ENSG00000130489
has db xref: Genatlas:SCO2
has db xref: HGNC:10604
has db xref: OMIM:604272
has db xref: Reactome:O43819
has db xref: SwissProt:O43819
symbol: SCO2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1561
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98619
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_70474
subclass of: Restriction
  has value: 22q13.33
  on property: Orphanet C040

succinate dehydrogenase complex flavoprotein subunit A
alternative term: FP
alternative term: SDHF
alternative term: flavoprotein subunit of complex II
alternative term: succinate dehydrogenase [ubiquinone] flavoprotein subunit
has db xref: Ensembl:ENSG00000073578
has db xref: Genatlas:SDHA
has db xref: HGNC:10680
has db xref: OMIM:600857
has db xref: Reactome:P31040
has db xref: SwissProt:P31040
symbol: SDHA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 154
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_255241
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_29072
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3208
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_44890
subclass of: Restriction
  has value: 5p15.33
  on property: Orphanet C040

succinate dehydrogenase complex iron sulfur subunit B
alternative term: iron-sulfur subunit of complex II
alternative term: succinate dehydrogenase [ubiquinone] iron-sulfur subunit
has db xref: Ensembl:ENSG00000117118
has db xref: Genatlas:SDHB
has db xref: HGNC:10681
has db xref: OMIM:185470
has db xref: Reactome:P21912
has db xref: SwissProt:P21912
symbol: SDHB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 201
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_29072
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3208
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_276624
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_44890
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_97286
subclass of: Restriction
  has value: 1p36.13
  on property: Orphanet C040

succinate dehydrogenase complex subunit C
alternative term: CYB560
alternative term: cybL
alternative term: large subunit of cytochrome b
alternative term: succinate dehydrgenase cytochrome b
alternative term: succinate dehydrogenase cytochrome b560 subunit
has db xref: Ensembl:ENSG00000143252
has db xref: Genatlas:SDHC
has db xref: HGNC:10682
has db xref: OMIM:602413
has db xref: Reactome:Q99643
has db xref: SwissProt:Q99643
symbol: SDHC
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 201
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_29072
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_44890
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_97286
subclass of: Restriction
  has value: 1q23.3
  on property: Orphanet C040

succinate dehydrogenase complex subunit D
alternative term: cybS
alternative term: small subunit of cytochrome b
has db xref: Ensembl:ENSG00000204370
has db xref: Genatlas:SDHD
has db xref: HGNC:10683
has db xref: OMIM:602690
has db xref: Reactome:O14521
has db xref: SwissProt:O14521
symbol: SDHD
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Carcinoid syndrome
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 201
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_29072
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_276624
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 3208
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_97286
subclass of: Restriction
  has value: 11q23.1
  on property: Orphanet C040

Sec23 homolog A, coat complex II component
has db xref: Ensembl:ENSG00000100934
has db xref: Genatlas:SEC23A
has db xref: HGNC:10701
has db xref: OMIM:610511
has db xref: Reactome:Q15436
has db xref: SwissProt:Q15436
symbol: SEC23A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_50814
subclass of: Restriction
  has value: 14q21.1
  on property: Orphanet C040

SEC63 homolog, protein translocation regulator
alternative term: DNAJC23
alternative term: ERdj2
alternative term: PRO2507
alternative term: SEC63L
has db xref: Ensembl:ENSG00000025796
has db xref: Genatlas:SEC63
has db xref: HGNC:21082
has db xref: OMIM:608648
has db xref: Reactome:Q9UGP8
has db xref: SwissProt:Q9UGP8
symbol: SEC63
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2924
subclass of: Restriction
  has value: 6q21
  on property: Orphanet C040

semaphorin 3E
alternative term: KIAA0331
alternative term: M-SemaK
alternative term: M-sema H
alternative term: coll-5
has db xref: Ensembl:ENSG00000170381
has db xref: Genatlas:SEMA3E
has db xref: HGNC:10727
has db xref: OMIM:608166
has db xref: Reactome:O15041
has db xref: SwissProt:O15041
symbol: SEMA3E
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 138
subclass of: Restriction
  has value: 7q21.11
  on property: Orphanet C040

selenoprotein N
alternative term: RSS
alternative term: SELN
has db xref: Ensembl:ENSG00000162430
has db xref: Genatlas:SEPN1
has db xref: HGNC:15999
has db xref: OMIM:606210
has db xref: SwissProt:Q9NZV5
symbol: SELENON
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2020
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_324604
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_84132
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_97244
subclass of: Restriction
  has value: 1p36.11
  on property: Orphanet C040

Infantile onset spinocerebellar ataxia
part of: Orphanet_254871
part of: Orphanet_98098
tree view: Orphanet_254871
tree view: Orphanet_98098
alternative term: IOSCA
alternative term: Ohaha syndrome
alternative term: Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G11.1
has db xref: MeSH:C535523
has db xref: OMIM:271245
has db xref: UMLS:C1849096
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 29.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_254871
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98098
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1186

serpin family A member 1
alternative term: A1A
alternative term: A1AT
alternative term: AAT
alternative term: PI1
alternative term: alpha-1-antitrypsin
alternative term: alpha1AT
alternative term: protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
has db xref: Ensembl:ENSG00000197249
has db xref: Genatlas:SERPINA1
has db xref: HGNC:8941
has db xref: OMIM:107400
has db xref: Reactome:P01009
has db xref: SwissProt:P01009
symbol: SERPINA1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_178396
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 60
subclass of: Restriction
  has value: 14q32.13
  on property: Orphanet C040

serpin family C member 1
alternative term: ATIII
alternative term: MGC22579
alternative term: antithrombin (aa 375-432)
alternative term: antithrombin III
alternative term: coding sequence signal peptide antithrombin part 1
alternative term: signal peptide antithrombin part 1
has db xref: Ensembl:ENSG00000117601
has db xref: Genatlas:SERPINC1
has db xref: HGNC:775
has db xref: IUPHAR:2632
has db xref: OMIM:107300
has db xref: Reactome:P01008
has db xref: SwissProt:P01008
symbol: SERPINC1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 82
subclass of: Restriction
  has value: 1q25.1
  on property: Orphanet C040

serpin family E member 1
alternative term: PAI
alternative term: plasminogen activator inhibitor, type I
has db xref: Ensembl:ENSG00000106366
has db xref: Genatlas:SERPINE1
has db xref: HGNC:8583
has db xref: OMIM:173360
has db xref: Reactome:P05121
has db xref: SwissProt:P05121
symbol: SERPINE1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 465
subclass of: Restriction
  has value: 7q22.1
  on property: Orphanet C040

serpin family G member 1
alternative term: C1-INH
alternative term: C1IN
alternative term: HAE1
alternative term: HAE2
alternative term: angioedema, hereditary
alternative term: plasma protease C1 inhibitor
has db xref: Ensembl:ENSG00000149131
has db xref: Genatlas:SERPING1
has db xref: HGNC:1228
has db xref: OMIM:606860
has db xref: Reactome:P05155
has db xref: SwissProt:P05155
symbol: SERPING1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Hereditary angioedema type 1
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Hereditary angioedema type 2
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_459353
subclass of: Restriction
  has value: 11q12.1
  on property: Orphanet C040

serpin family I member 1
alternative term: neuroserpin
has db xref: Ensembl:ENSG00000163536
has db xref: Genatlas:SERPINI1
has db xref: HGNC:8943
has db xref: OMIM:602445
has db xref: SwissProt:Q99574
symbol: SERPINI1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_85110
subclass of: Restriction
  has value: 3q26.1
  on property: Orphanet C040

senataxin
alternative term: AOA2
alternative term: KIAA0625
alternative term: Sen1
has db xref: Ensembl:ENSG00000107290
has db xref: Genatlas:SETX
has db xref: HGNC:445
has db xref: OMIM:608465
has db xref: Reactome:Q7Z333
has db xref: SwissProt:Q7Z333
symbol: SETX
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_357043
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_64753
subclass of: Restriction
  has value: 9q34.13
  on property: Orphanet C040

surfactant protein A1
alternative term: COLEC4
alternative term: SP-A
alternative term: SP-A1
alternative term: surfactant, pulmonary-associated protein A1A
has db xref: Ensembl:ENSG00000122852
has db xref: Genatlas:SFTPA1
has db xref: HGNC:10798
has db xref: OMIM:178630
has db xref: Reactome:Q8IWL2
has db xref: SwissProt:Q8IWL2
symbol: SFTPA1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 2032
subclass of: Restriction
  has value: 10q22.3
  on property: Orphanet C040

surfactant protein B
alternative term: SP-B
has db xref: Ensembl:ENSG00000168878
has db xref: Genatlas:SFTPB
has db xref: HGNC:10801
has db xref: OMIM:178640
has db xref: Reactome:P07988
has db xref: SwissProt:P07988
symbol: SFTPB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_70587
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_217563
subclass of: Restriction
  has value: 2p11.2
  on property: Orphanet C040

surfactant protein C
alternative term: BRICD6
alternative term: BRICHOS domain containing 6
alternative term: PSP-C
alternative term: SMDP2
alternative term: SP-C
has db xref: Ensembl:ENSG00000168484
has db xref: Genatlas:SFTPC
has db xref: HGNC:10802
has db xref: OMIM:178620
has db xref: Reactome:P11686
has db xref: SwissProt:P11686
symbol: SFTPC
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_217566
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_440392
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 2032
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_70587
subclass of: Restriction
  has value: 8p21.3
  on property: Orphanet C040

sarcoglycan alpha
alternative term: 50kD DAG
alternative term: A2
alternative term: DMDA2
alternative term: LGMD2D
alternative term: SCARMD1
alternative term: adhalin
alternative term: limb girdle muscular dystrophy 2D
has db xref: Ensembl:ENSG00000108823
has db xref: Genatlas:SGCA
has db xref: HGNC:10805
has db xref: OMIM:600119
has db xref: SwissProt:Q16586
symbol: SGCA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 62
subclass of: Restriction
  has value: 17q21.33
  on property: Orphanet C040

sarcoglycan beta
alternative term: A3b
alternative term: SGC
has db xref: Ensembl:ENSG00000163069
has db xref: Genatlas:SGCB
has db xref: HGNC:10806
has db xref: OMIM:600900
has db xref: Reactome:Q16585
has db xref: SwissProt:Q16585
symbol: SGCB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Autosomal recessive limb-girdle muscular dystrophy type 2E
subclass of: Restriction
  has value: 4q12
  on property: Orphanet C040

sarcoglycan delta
alternative term: CMD1L
alternative term: DAGD
alternative term: LGMD2F
has db xref: Ensembl:ENSG00000170624
has db xref: Genatlas:SGCD
has db xref: HGNC:10807
has db xref: OMIM:601411
has db xref: SwissProt:Q92629
symbol: SGCD
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 154
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 219
subclass of: Restriction
  has value: 5q33.2-q33.3
  on property: Orphanet C040

sarcoglycan epsilon
has db xref: Ensembl:ENSG00000127990
has db xref: Genatlas:SGCE
has db xref: HGNC:10808
has db xref: OMIM:604149
has db xref: SwissProt:O43556
symbol: SGCE
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_36899
subclass of: Restriction
  has value: 7q21.3
  on property: Orphanet C040

sarcoglycan gamma
alternative term: 35kD dystrophin-associated glycoprotein
alternative term: A4
alternative term: DAGA4
alternative term: DMDA
alternative term: MGC130048
alternative term: Maghrebian myopathy (autosomal recessive)
alternative term: SCARMD2
alternative term: SCG3
alternative term: TYPE
alternative term: gamma sarcoglycan
alternative term: limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)
has db xref: Ensembl:ENSG00000102683
has db xref: Genatlas:SGCG
has db xref: HGNC:10809
has db xref: OMIM:608896
has db xref: Reactome:Q13326
has db xref: SwissProt:Q13326
symbol: SGCG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 353
subclass of: Restriction
  has value: 13q12.12
  on property: Orphanet C040

N-sulfoglucosamine sulfohydrolase
alternative term: HSS
alternative term: MPS3A
alternative term: SFMD
alternative term: mucopolysaccharidosis type IIIA
alternative term: sulfamidase
has db xref: Ensembl:ENSG00000181523
has db xref: Genatlas:SGSH
has db xref: HGNC:10818
has db xref: OMIM:605270
has db xref: Reactome:P51688
has db xref: SwissProt:P51688
symbol: SGSH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79269
subclass of: Restriction
  has value: 17q25.3
  on property: Orphanet C040

SH2 domain containing 1A
alternative term: DSHP
alternative term: Duncan's disease
alternative term: EBVS
alternative term: MTCP1
alternative term: SAP
alternative term: XLP
alternative term: XLPD
has db xref: Ensembl:ENSG00000183918
has db xref: Genatlas:SH2D1A
has db xref: HGNC:10820
has db xref: OMIM:300490
has db xref: Reactome:O60880
has db xref: SwissProt:O60880
symbol: SH2D1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2442
subclass of: Restriction
  has value: Xq25
  on property: Orphanet C040

SH3 domain binding protein 2
alternative term: CRBM
alternative term: RES4-23
has db xref: Ensembl:ENSG00000087266
has db xref: Genatlas:SH3BP2
has db xref: HGNC:10825
has db xref: OMIM:602104
has db xref: Reactome:P78314
has db xref: SwissProt:P78314
symbol: SH3BP2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 184
subclass of: Restriction
  has value: 4p16.3
  on property: Orphanet C040

SH3 domain and tetratricopeptide repeats 2
alternative term: CMT4C
alternative term: KIAA1985
has db xref: Ensembl:ENSG00000169247
has db xref: Genatlas:SH3TC2
has db xref: HGNC:29427
has db xref: OMIM:608206
has db xref: SwissProt:Q8TF17
symbol: SH3TC2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99949
subclass of: Restriction
  has value: 5q32
  on property: Orphanet C040

SH3 and multiple ankyrin repeat domains 3
alternative term: KIAA1650
alternative term: PSAP2
alternative term: SPANK-2
alternative term: proline rich synapse associated protein 2
alternative term: prosap2
alternative term: shank postsynaptic density protein
has db xref: Ensembl:ENSG00000251322
has db xref: Genatlas:SHANK3
has db xref: HGNC:14294
has db xref: OMIM:606230
has db xref: Reactome:Q9BYB0
has db xref: SwissProt:Q9BYB0
symbol: SHANK3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_48652
subclass of: Restriction
  has value: 22q13.33
  on property: Orphanet C040

Lethal ataxia with deafness and optic atrophy
part of: Orphanet_247765
part of: Orphanet_79191
part of: Orphanet_90642
part of: Orphanet_98464
tree view: Orphanet_247765
tree view: Orphanet_79191
tree view: Orphanet_90642
tree view: Orphanet_98464
alternative term: Arts syndrome
definition: Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
definition citation: orphanet
has db xref: ICD-10:E79.8
has db xref: MeSH:C535388
has db xref: OMIM:301835
has db xref: UMLS:C0796028
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 4.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_247765
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79191
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98464
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1187

sonic hedgehog
alternative term: HHG1
alternative term: MCOPCB5
alternative term: SMMCI
alternative term: TPT
alternative term: TPTPS
has db xref: Ensembl:ENSG00000164690
has db xref: Genatlas:SHH
has db xref: HGNC:10848
has db xref: OMIM:600725
has db xref: Reactome:Q15465
has db xref: SwissProt:Q15465
symbol: SHH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_220386
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280195
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280200
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2950
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3332
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_476119
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93321
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93336
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93405
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93924
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93925
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93926
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98938
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_485275
subclass of: Restriction
  has value: 7q36.3
  on property: Orphanet C040

short stature homeobox
alternative term: GCFX
alternative term: PHOG
alternative term: SHOXY
alternative term: SS
has db xref: Ensembl:ENSG00000185960
has db xref: Genatlas:SHOX
has db xref: HGNC:10853
has db xref: OMIM:312865
has db xref: OMIM:400020
has db xref: SwissProt:O15266
symbol: SHOX
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_314795
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 240
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 2632
subclass of: Restriction
  has value: Xp22.33
  on property: Orphanet C040
subclass of: Restriction
  has value: Yp11.32
  on property: Orphanet C040

shroom family member 4
alternative term: KIAA1202
has db xref: Ensembl:ENSG00000158352
has db xref: Genatlas:SHROOM4
has db xref: HGNC:29215
has db xref: OMIM:300579
has db xref: SwissProt:Q9ULL8
symbol: SHROOM4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_85288
subclass of: Restriction
  has value: Xp11.22
  on property: Orphanet C040

sucrase-isomaltase
alternative term: Oligosaccharide alpha-1,6-glucosidase
alternative term: alpha-glucosidase
has db xref: Ensembl:ENSG00000090402
has db xref: Genatlas:SI
has db xref: HGNC:10856
has db xref: OMIM:609845
has db xref: Reactome:P14410
has db xref: SwissProt:P14410
symbol: SI
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_306436
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_306446
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_306462
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_306474
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_306486
subclass of: Restriction
  has value: 3q26.1
  on property: Orphanet C040

SIL1 nucleotide exchange factor
alternative term: BAP
alternative term: ULG5
has db xref: Ensembl:ENSG00000120725
has db xref: Genatlas:SIL1
has db xref: HGNC:24624
has db xref: OMIM:608005
has db xref: SwissProt:Q9H173
symbol: SIL1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 559
subclass of: Restriction
  has value: 5q31.2
  on property: Orphanet C040

SIX homeobox 1
has db xref: Ensembl:ENSG00000126778
has db xref: Genatlas:SIX1
has db xref: HGNC:10887
has db xref: OMIM:601205
has db xref: Reactome:Q15475
has db xref: SwissProt:Q15475
symbol: SIX1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: BOR syndrome
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_52429
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90635
subclass of: Restriction
  has value: 14q23.1
  on property: Orphanet C040

SIX homeobox 3
has db xref: Ensembl:ENSG00000138083
has db xref: Genatlas:SIX3
has db xref: HGNC:10889
has db xref: OMIM:603714
has db xref: Reactome:O95343
has db xref: SwissProt:O95343
symbol: SIX3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_220386
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280195
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_280200
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93924
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93925
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93926
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_485275
subclass of: Restriction
  has value: 2p21
  on property: Orphanet C040

SIX homeobox 6
alternative term: Six9
has db xref: Ensembl:ENSG00000184302
has db xref: Genatlas:SIX6
has db xref: HGNC:10892
has db xref: OMIM:606326
has db xref: SwissProt:O95475
symbol: SIX6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_435930
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 2542
subclass of: Restriction
  has value: 14q23.1
  on property: Orphanet C040

solute carrier family 11 member 2
alternative term: DCT1
alternative term: DMT1
has db xref: Ensembl:ENSG00000110911
has db xref: Genatlas:SLC11A2
has db xref: HGNC:10908
has db xref: OMIM:600523
has db xref: Reactome:P49281
has db xref: SwissProt:P49281
symbol: SLC11A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_83642
subclass of: Restriction
  has value: 12q13.12
  on property: Orphanet C040

solute carrier family 12 member 1
alternative term: NKCC2
has db xref: Ensembl:ENSG00000074803
has db xref: Genatlas:SLC12A1
has db xref: HGNC:10910
has db xref: IUPHAR:968
has db xref: OMIM:600839
has db xref: Reactome:Q13621
has db xref: SwissProt:Q13621
symbol: SLC12A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_93604
subclass of: Restriction
  has value: 15q21.1
  on property: Orphanet C040

solute carrier family 12 member 3
alternative term: NCCT
has db xref: Ensembl:ENSG00000070915
has db xref: Genatlas:SLC12A3
has db xref: HGNC:10912
has db xref: IUPHAR:970
has db xref: OMIM:600968
has db xref: Reactome:P55017
has db xref: SwissProt:P55017
symbol: SLC12A3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 358
subclass of: Restriction
  has value: 16q13
  on property: Orphanet C040

solute carrier family 12 member 6
has db xref: Ensembl:ENSG00000140199
has db xref: Genatlas:SLC12A6
has db xref: HGNC:10914
has db xref: OMIM:604878
has db xref: Reactome:Q9UHW9
has db xref: SwissProt:Q9UHW9
symbol: SLC12A6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1496
subclass of: Restriction
  has value: 15q14
  on property: Orphanet C040

solute carrier family 16 member 2
alternative term: MCT7
alternative term: MCT8
alternative term: XPCT
has db xref: Ensembl:ENSG00000147100
has db xref: Genatlas:SLC16A2
has db xref: HGNC:10923
has db xref: OMIM:300095
has db xref: Reactome:P36021
has db xref: SwissProt:P36021
symbol: SLC16A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 59
subclass of: Restriction
  has value: Xq13.2
  on property: Orphanet C040

solute carrier family 17 member 5
alternative term: AST
alternative term: ISSD
alternative term: NSD
alternative term: SD
alternative term: SIALIN
alternative term: SLD
has db xref: Ensembl:ENSG00000119899
has db xref: Genatlas:SLC17A5
has db xref: HGNC:10933
has db xref: OMIM:604322
has db xref: Reactome:Q9NRA2
has db xref: SwissProt:Q9NRA2
symbol: SLC17A5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_309324
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_309331
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_309334
subclass of: Restriction
  has value: 6q13
  on property: Orphanet C040

solute carrier family 19 member 2
alternative term: THTR1
has db xref: Ensembl:ENSG00000117479
has db xref: Genatlas:SLC19A2
has db xref: HGNC:10938
has db xref: OMIM:603941
has db xref: Reactome:O60779
has db xref: SwissProt:O60779
symbol: SLC19A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_49827
subclass of: Restriction
  has value: 1q24.2
  on property: Orphanet C040

solute carrier family 19 member 3
alternative term: THTR2
alternative term: thiamine transporter 2
has db xref: Ensembl:ENSG00000135917
has db xref: Genatlas:SLC19A3
has db xref: HGNC:16266
has db xref: OMIM:606152
has db xref: Reactome:Q9BZV2
has db xref: SwissProt:Q9BZV2
symbol: SLC19A3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_199348
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_255241
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_263410
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_65284
subclass of: Restriction
  has value: 2q36.3
  on property: Orphanet C040

solute carrier family 22 member 5
alternative term: OCTN2
alternative term: SCD
has db xref: Ensembl:ENSG00000197375
has db xref: Genatlas:SLC22A5
has db xref: HGNC:10969
has db xref: OMIM:603377
has db xref: Reactome:O76082
has db xref: SwissProt:O76082
symbol: SLC22A5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 158
subclass of: Restriction
  has value: 5q31.1
  on property: Orphanet C040

solute carrier family 25 member 13
alternative term: ARALAR2
alternative term: CITRIN
alternative term: mitochondrial aspartate glutamate carrier 2
has db xref: Ensembl:ENSG00000004864
has db xref: Genatlas:SLC25A13
has db xref: HGNC:10983
has db xref: OMIM:603859
has db xref: Reactome:Q9UJS0
has db xref: SwissProt:Q9UJS0
symbol: SLC25A13
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_247585
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_247598
subclass of: Restriction
  has value: 7q21.3
  on property: Orphanet C040

solute carrier family 25 member 15
alternative term: D13S327
alternative term: ORC1
alternative term: ornithine transporter 1
has db xref: Ensembl:ENSG00000102743
has db xref: Genatlas:SLC25A15
has db xref: HGNC:10985
has db xref: OMIM:603861
has db xref: Reactome:Q9Y619
has db xref: SwissProt:Q9Y619
symbol: SLC25A15
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 415
subclass of: Restriction
  has value: 13q14.11
  on property: Orphanet C040

solute carrier family 25 member 19
alternative term: DNC
alternative term: MUP1
alternative term: TPC
has db xref: Ensembl:ENSG00000125454
has db xref: Genatlas:SLC25A19
has db xref: HGNC:14409
has db xref: OMIM:606521
has db xref: Reactome:Q9HC21
has db xref: SwissProt:Q9HC21
symbol: SLC25A19
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_217396
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99742
subclass of: Restriction
  has value: 17q25.1
  on property: Orphanet C040

solute carrier family 25 member 20
alternative term: CAC
alternative term: carnitine-acylcarnitine carrier
alternative term: carnitine/acylcarnitine translocase
has db xref: Ensembl:ENSG00000178537
has db xref: Genatlas:SLC25A20
has db xref: HGNC:1421
has db xref: OMIM:613698
has db xref: Reactome:O43772
has db xref: SwissProt:O43772
symbol: SLC25A20
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 159
subclass of: Restriction
  has value: 3p21.31
  on property: Orphanet C040

Ataxia-deafness-intellectual disability syndrome
part of: Orphanet_247765
part of: Orphanet_522520
part of: Orphanet_90642
part of: Orphanet_98683
tree view: Orphanet_247765
tree view: Orphanet_522520
tree view: Orphanet_90642
tree view: Orphanet_98683
alternative term: Ataxia-hearing loss-intellectual disability syndrome
alternative term: Reardon-Baraitser syndrome
definition: This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.
definition citation: orphanet
has db xref: ICD-10:G11.1
has db xref: OMIM:208850
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 8.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_247765
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522520
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98683
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409932
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1188

solute carrier family 25 member 22
alternative term: EIEE3
alternative term: FLJ13044
alternative term: GC1
alternative term: NET44
has db xref: Ensembl:ENSG00000177542
has db xref: Genatlas:SLC25A22
has db xref: HGNC:19954
has db xref: OMIM:609302
has db xref: Reactome:Q9H936
has db xref: SwissProt:Q9H936
symbol: SLC25A22
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1934
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1935
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293181
subclass of: Restriction
  has value: 11p15.5
  on property: Orphanet C040

solute carrier family 25 member 4
alternative term: T1
has db xref: Ensembl:ENSG00000151729
has db xref: Genatlas:SLC25A4
has db xref: HGNC:10990
has db xref: OMIM:103220
has db xref: Reactome:P12235
has db xref: SwissProt:P12235
symbol: SLC25A4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_254892
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 1369
subclass of: Restriction
  has value: 4q35.1
  on property: Orphanet C040

solute carrier family 26 member 2
alternative term: DTDST
has db xref: Ensembl:ENSG00000155850
has db xref: Genatlas:SLC26A2
has db xref: HGNC:10994
has db xref: OMIM:606718
has db xref: Reactome:P50443
has db xref: SwissProt:P50443
symbol: SLC26A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_56304
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93307
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 628
subclass of: Restriction
  has value: 5q32
  on property: Orphanet C040

solute carrier family 26 member 3
has db xref: Ensembl:ENSG00000091138
has db xref: Genatlas:SLC26A3
has db xref: HGNC:3018
has db xref: OMIM:126650
has db xref: Reactome:P40879
has db xref: SwissProt:P40879
symbol: SLC26A3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_53689
subclass of: Restriction
  has value: 7q22.3-q31.1
  on property: Orphanet C040

solute carrier family 26 member 4
alternative term: PDS
alternative term: pendrin
has db xref: Ensembl:ENSG00000091137
has db xref: Genatlas:SLC26A4
has db xref: HGNC:8818
has db xref: OMIM:605646
has db xref: Reactome:O43511
has db xref: SwissProt:O43511
symbol: SLC26A4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 705
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90636
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_95713
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_95720
subclass of: Restriction
  has value: 7q22.3
  on property: Orphanet C040

solute carrier family 2 member 10
alternative term: GLUT10
has db xref: Ensembl:ENSG00000197496
has db xref: Genatlas:SLC2A10
has db xref: HGNC:13444
has db xref: OMIM:606145
has db xref: Reactome:O95528
has db xref: SwissProt:O95528
symbol: SLC2A10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 3342
subclass of: Restriction
  has value: 20q13.12
  on property: Orphanet C040

solute carrier family 2 member 2
has db xref: Ensembl:ENSG00000163581
has db xref: Genatlas:SLC2A2
has db xref: HGNC:11006
has db xref: OMIM:138160
has db xref: Reactome:P11168
has db xref: SwissProt:P11168
symbol: SLC2A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2088
subclass of: Restriction
  has value: 3q26.2
  on property: Orphanet C040

solute carrier family 34 member 2
alternative term: NAPI-3B
has db xref: Ensembl:ENSG00000157765
has db xref: Genatlas:SLC34A2
has db xref: HGNC:11020
has db xref: OMIM:604217
has db xref: Reactome:O95436
has db xref: SwissProt:O95436
symbol: SLC34A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_60025
subclass of: Restriction
  has value: 4p15.2
  on property: Orphanet C040

solute carrier family 34 member 3
alternative term: FLJ38680
alternative term: NPTIIc
has db xref: Ensembl:ENSG00000198569
has db xref: Genatlas:SLC34A3
has db xref: HGNC:20305
has db xref: OMIM:609826
has db xref: Reactome:Q8N130
has db xref: SwissProt:Q8N130
symbol: SLC34A3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_157215
subclass of: Restriction
  has value: 9q34.3
  on property: Orphanet C040

solute carrier family 35 member C1
alternative term: FLJ11320
alternative term: FUCT1
has db xref: Ensembl:ENSG00000181830
has db xref: Genatlas:SLC35C1
has db xref: HGNC:20197
has db xref: OMIM:605881
has db xref: Reactome:Q96A29
has db xref: SwissProt:Q96A29
symbol: SLC35C1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99843
subclass of: Restriction
  has value: 11p11.2
  on property: Orphanet C040

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
alternative term: SERCA1
alternative term: calcium pump 1
alternative term: sarcoplasmic/endoplasmic reticulum calcium ATPase 1
has db xref: Ensembl:ENSG00000196296
has db xref: Genatlas:ATP2A1
has db xref: HGNC:811
has db xref: OMIM:108730
has db xref: Reactome:O14983
has db xref: SwissProt:O14983
symbol: ATP2A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_53347
subclass of: Restriction
  has value: 16p11.2
  on property: Orphanet C040

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
alternative term: SERCA2
alternative term: calcium pump 2
alternative term: sarcoplasmic/endoplasmic reticulum calcium ATPase 2
has db xref: Ensembl:ENSG00000174437
has db xref: Genatlas:ATP2A2
has db xref: HGNC:812
has db xref: OMIM:108740
has db xref: Reactome:P16615
has db xref: SwissProt:P16615
symbol: ATP2A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 218
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79151
subclass of: Restriction
  has value: 12q24.11
  on property: Orphanet C040

ATPase secretory pathway Ca2+ transporting 1
alternative term: ATP2C1A
alternative term: KIAA1347
alternative term: PMR1
alternative term: SPCA1
alternative term: calcium-transporting ATPase type 2C member 1
alternative term: secretory pathway Ca2+/Mn2+ ATPase 1
has db xref: Ensembl:ENSG00000017260
has db xref: Genatlas:ATP2C1
has db xref: HGNC:13211
has db xref: OMIM:604384
has db xref: Reactome:P98194
has db xref: SwissProt:P98194
symbol: ATP2C1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2841
subclass of: Restriction
  has value: 3q22.1
  on property: Orphanet C040

ATPase H+ transporting accessory protein 2
alternative term: APT6M8-9
alternative term: ATP6M8-9
alternative term: M8-9
alternative term: PRR
alternative term: RENR
alternative term: prorenin receptor
alternative term: renin receptor
has db xref: Ensembl:ENSG00000182220
has db xref: Genatlas:ATP6AP2
has db xref: HGNC:18305
has db xref: OMIM:300556
has db xref: Reactome:O75787
has db xref: SwissProt:O75787
symbol: ATP6AP2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_363654
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93952
subclass of: Restriction
  has value: Xp11.4
  on property: Orphanet C040

ATPase H+ transporting V0 subunit a4
alternative term: RDRTA2
alternative term: RTADR
alternative term: Stv1
alternative term: VPP2
alternative term: Vph1
alternative term: a4
has db xref: Ensembl:ENSG00000105929
has db xref: Genatlas:ATP6V0A4
has db xref: HGNC:866
has db xref: OMIM:605239
has db xref: Reactome:Q9HBG4
has db xref: SwissProt:Q9HBG4
symbol: ATP6V0A4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_402041
subclass of: Restriction
  has value: 7q34
  on property: Orphanet C040

ATPase H+ transporting V1 subunit B1
alternative term: RTA1B
alternative term: Renal tubular acidosis with deafness
alternative term: VATB
alternative term: Vma2
has db xref: Ensembl:ENSG00000116039
has db xref: Genatlas:ATP6V1B1
has db xref: HGNC:853
has db xref: OMIM:192132
has db xref: Reactome:P15313
has db xref: SwissProt:P15313
symbol: ATP6V1B1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_402041
subclass of: Restriction
  has value: 2p13.3
  on property: Orphanet C040

ATPase copper transporting alpha
alternative term: copper pump 1
alternative term: copper-transporting ATPase 1
has db xref: Ensembl:ENSG00000165240
has db xref: Genatlas:ATP7A
has db xref: HGNC:869
has db xref: OMIM:300011
has db xref: Reactome:Q04656
has db xref: SwissProt:Q04656
symbol: ATP7A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_139557
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 198
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 565
subclass of: Restriction
  has value: Xq21.1
  on property: Orphanet C040

ATPase copper transporting beta
alternative term: Wilson disease
alternative term: copper pump 2
alternative term: copper-transporting ATPase 2
has db xref: Ensembl:ENSG00000123191
has db xref: Genatlas:ATP7B
has db xref: HGNC:870
has db xref: OMIM:606882
has db xref: Reactome:P35670
has db xref: SwissProt:P35670
symbol: ATP7B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 905
subclass of: Restriction
  has value: 13q14.3
  on property: Orphanet C040

ATPase phospholipid transporting 8B1
alternative term: ATPIC
alternative term: PFIC
has db xref: Ensembl:ENSG00000081923
has db xref: Genatlas:ATP8B1
has db xref: HGNC:3706
has db xref: OMIM:602397
has db xref: Reactome:O43520
has db xref: SwissProt:O43520
symbol: ATP8B1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79306
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99960
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_69665
subclass of: Restriction
  has value: 18q21.31
  on property: Orphanet C040

ATP synthase mitochondrial F1 complex assembly factor 2
alternative term: ATP12
alternative term: Atp12p
alternative term: LP3663
alternative term: MGC29736
has db xref: Ensembl:ENSG00000171953
has db xref: Genatlas:ATPAF2
has db xref: HGNC:18802
has db xref: OMIM:608918
has db xref: Reactome:Q8N5M1
has db xref: SwissProt:Q8N5M1
symbol: ATPAF2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_254913
subclass of: Restriction
  has value: 17p11.2
  on property: Orphanet C040

ATR serine/threonine kinase
alternative term: FRP1
alternative term: MEC1
alternative term: MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)
alternative term: SCKL
alternative term: SCKL1
has db xref: Ensembl:ENSG00000175054
has db xref: Genatlas:ATR
has db xref: HGNC:882
has db xref: IUPHAR:1935
has db xref: OMIM:601215
has db xref: Reactome:Q13535
has db xref: SwissProt:Q13535
symbol: ATR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_313846
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 808
subclass of: Restriction
  has value: 3q23
  on property: Orphanet C040

ATRX, chromatin remodeler
alternative term: RAD54 homolog (S. cerevisiae)
alternative term: XH2
alternative term: XNP
has db xref: Ensembl:ENSG00000085224
has db xref: Genatlas:ATRX
has db xref: HGNC:886
has db xref: OMIM:300032
has db xref: Reactome:P46100
has db xref: SwissProt:P46100
symbol: ATRX
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 847
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93970
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93971
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93972
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93973
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93974
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_231401
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Neuroendocrine tumor of stomach
subclass of: Restriction
  has value: Xq21.1
  on property: Orphanet C040

ataxin 1
alternative term: ATX1
alternative term: D6S504E
has db xref: Ensembl:ENSG00000124788
has db xref: Genatlas:ATXN1
has db xref: HGNC:10548
has db xref: OMIM:601556
has db xref: Reactome:P54253
has db xref: SwissProt:P54253
symbol: ATXN1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98755
subclass of: Restriction
  has value: 6p22.3
  on property: Orphanet C040

ataxin 10
alternative term: E46L
alternative term: FLJ37990
has db xref: Ensembl:ENSG00000130638
has db xref: Genatlas:ATXN10
has db xref: HGNC:10549
has db xref: OMIM:611150
has db xref: Reactome:Q9UBB4
has db xref: SwissProt:Q9UBB4
symbol: ATXN10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98761
subclass of: Restriction
  has value: 22q13.31
  on property: Orphanet C040

ataxin 2
alternative term: ATX2
alternative term: trinucleotide repeat containing 13
has db xref: Ensembl:ENSG00000204842
has db xref: Genatlas:ATXN2
has db xref: HGNC:10555
has db xref: OMIM:601517
has db xref: Reactome:Q99700
has db xref: SwissProt:Q99700
symbol: ATXN2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98756
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 803
subclass of: Restriction
  has value: 12q24.12
  on property: Orphanet C040

ataxin 3
alternative term: ATX3
alternative term: JOS
has db xref: Ensembl:ENSG00000066427
has db xref: Genatlas:ATXN3
has db xref: HGNC:7106
has db xref: OMIM:607047
has db xref: Reactome:P54252
has db xref: SwissProt:P54252
symbol: ATXN3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_276238
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_276241
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_276244
subclass of: Restriction
  has value: 14q32.12
  on property: Orphanet C040

ataxin 7
alternative term: ADCAII
alternative term: OPCA3
has db xref: Ensembl:ENSG00000163635
has db xref: Genatlas:ATXN7
has db xref: HGNC:10560
has db xref: OMIM:607640
has db xref: Reactome:O15265
has db xref: SwissProt:O15265
symbol: ATXN7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_94147
subclass of: Restriction
  has value: 3p14.1
  on property: Orphanet C040

ataxin 8
has db xref: Genatlas:ATXN8
has db xref: HGNC:32925
has db xref: OMIM:613289
has db xref: SwissProt:Q156A1
symbol: ATXN8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98760
subclass of: Restriction
  has value: 13q21.33
  on property: Orphanet C040

AU RNA binding methylglutaconyl-CoA hydratase
has db xref: Ensembl:ENSG00000148090
has db xref: Genatlas:AUH
has db xref: HGNC:890
has db xref: OMIM:600529
has db xref: Reactome:Q13825
has db xref: SwissProt:Q13825
symbol: AUH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_67046
subclass of: Restriction
  has value: 9q22.31
  on property: Orphanet C040

arginine vasopressin
alternative term: ADH
alternative term: antidiuretic hormone
alternative term: copeptin
alternative term: diabetes insipidus
alternative term: neurohypophyseal
alternative term: neurophysin II
alternative term: prepro-AVP-NP II
alternative term: prepro-arginine-vasopressin-neurophysin II
has db xref: Ensembl:ENSG00000101200
has db xref: Genatlas:AVP
has db xref: HGNC:894
has db xref: OMIM:192340
has db xref: Reactome:P01185
has db xref: SwissProt:P01185
symbol: AVP
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_30925
subclass of: Restriction
  has value: 20p13
  on property: Orphanet C040

arginine vasopressin receptor 2
alternative term: V2R
alternative term: nephrogenic diabetes insipidus
has db xref: Ensembl:ENSG00000126895
has db xref: Genatlas:AVPR2
has db xref: HGNC:897
has db xref: IUPHAR:368
has db xref: OMIM:300538
has db xref: Reactome:P30518
has db xref: SwissProt:P30518
symbol: AVPR2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 223
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_93606
subclass of: Restriction
  has value: Xq28
  on property: Orphanet C040

axin 2
alternative term: DKFZp781B0869
alternative term: MGC126582
alternative term: axil
alternative term: conductin
has db xref: Ensembl:ENSG00000168646
has db xref: Genatlas:AXIN2
has db xref: HGNC:904
has db xref: OMIM:604025
has db xref: Reactome:Q9Y2T1
has db xref: SwissProt:Q9Y2T1
symbol: AXIN2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_300576
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_401911
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99798
subclass of: Restriction
  has value: 17q24.1
  on property: Orphanet C040

beta 3-glucosyltransferase
alternative term: B3GTL
alternative term: B3Glc-T
alternative term: beta-1,3-glucosyltransferase
has db xref: Ensembl:ENSG00000187676
has db xref: Genatlas:B3GALTL
has db xref: HGNC:20207
has db xref: OMIM:610308
has db xref: Reactome:Q6Y288
has db xref: SwissProt:Q6Y288
symbol: B3GLCT
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 709
subclass of: Restriction
  has value: 13q12.3
  on property: Orphanet C040

beta-1,4-galactosyltransferase 1
alternative term: beta4Gal-T1
has db xref: Ensembl:ENSG00000086062
has db xref: Genatlas:B4GALT1
has db xref: HGNC:924
has db xref: OMIM:137060
has db xref: Reactome:P15291
has db xref: SwissProt:P15291
symbol: B4GALT1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79332
subclass of: Restriction
  has value: 9p21.1
  on property: Orphanet C040

beta-1,4-galactosyltransferase 7
alternative term: XGALT-1
alternative term: beta4Gal-T7
alternative term: galactosyltransferase I
has db xref: Ensembl:ENSG00000027847
has db xref: Genatlas:B4GALT7
has db xref: HGNC:930
has db xref: OMIM:604327
has db xref: Reactome:Q9UBV7
has db xref: SwissProt:Q9UBV7
symbol: B4GALT7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_294049
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_75496
subclass of: Restriction
  has value: 5q35.3
  on property: Orphanet C040

bromodomain adjacent to zinc finger domain 1B
alternative term: WSTF
alternative term: Williams-Beuren syndrome chromosome region 10
alternative term: Williams-Beuren syndrome chromosome region 9
alternative term: transcription factor WSTF
has db xref: Ensembl:ENSG00000009954
has db xref: Genatlas:BAZ1B
has db xref: HGNC:961
has db xref: OMIM:605681
has db xref: Reactome:Q9UIG0
has db xref: SwissProt:Q9UIG0
symbol: BAZ1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet 904
subclass of: Restriction
  has value: 7q11.23
  on property: Orphanet C040

Bardet-Biedl syndrome 1
alternative term: FLJ23590
has db xref: Ensembl:ENSG00000174483
has db xref: Genatlas:BBS1
has db xref: HGNC:966
has db xref: OMIM:209901
has db xref: Reactome:Q8NFJ9
has db xref: SwissProt:Q8NFJ9
symbol: BBS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  has value: 11q13.2
  on property: Orphanet C040

Bardet-Biedl syndrome 10
alternative term: FLJ23560
has db xref: Ensembl:ENSG00000179941
has db xref: Genatlas:BBS10
has db xref: HGNC:26291
has db xref: OMIM:610148
has db xref: Reactome:Q8TAM1
has db xref: SwissProt:Q8TAM1
symbol: BBS10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  has value: 12q21.2
  on property: Orphanet C040

Bardet-Biedl syndrome 2
has db xref: Ensembl:ENSG00000125124
has db xref: Genatlas:BBS2
has db xref: HGNC:967
has db xref: OMIM:606151
has db xref: Reactome:Q9BXC9
has db xref: SwissProt:Q9BXC9
symbol: BBS2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 16q13
  on property: Orphanet C040

Bardet-Biedl syndrome 4
has db xref: Ensembl:ENSG00000140463
has db xref: Genatlas:BBS4
has db xref: HGNC:969
has db xref: OMIM:600374
has db xref: Reactome:Q96RK4
has db xref: SwissProt:Q96RK4
symbol: BBS4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  has value: 15q24.1
  on property: Orphanet C040

Bardet-Biedl syndrome 5
alternative term: DKFZp762I194
has db xref: Ensembl:ENSG00000163093
has db xref: Genatlas:BBS5
has db xref: HGNC:970
has db xref: OMIM:603650
has db xref: Reactome:Q8N3I7
has db xref: SwissProt:Q8N3I7
symbol: BBS5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  has value: 2q31.1
  on property: Orphanet C040

Bardet-Biedl syndrome 7
alternative term: BBS2L1
alternative term: FLJ10715
has db xref: Ensembl:ENSG00000138686
has db xref: Genatlas:BBS7
has db xref: HGNC:18758
has db xref: OMIM:607590
has db xref: Reactome:Q8IWZ6
has db xref: SwissProt:Q8IWZ6
symbol: BBS7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  has value: 4q27
  on property: Orphanet C040

Bardet-Biedl syndrome 9
alternative term: B1
alternative term: PTHB1
alternative term: parathyroid hormone responsive B1 gene
has db xref: Ensembl:ENSG00000122507
has db xref: Genatlas:BBS9
has db xref: HGNC:30000
has db xref: OMIM:607968
has db xref: Reactome:Q3SYG4
has db xref: SwissProt:Q3SYG4
symbol: BBS9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  has value: 7p14.3
  on property: Orphanet C040

butyrylcholinesterase
alternative term: E1
has db xref: Ensembl:ENSG00000114200
has db xref: Genatlas:BCHE
has db xref: HGNC:983
has db xref: IUPHAR:2471
has db xref: OMIM:177400
has db xref: Reactome:P06276
has db xref: SwissProt:P06276
symbol: BCHE
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 132
subclass of: Restriction
  has value: 3q26.1
  on property: Orphanet C040

Autosomal recessive limb-girdle muscular dystrophy type 2E
part of: Autosomal recessive limb-girdle muscular dystrophy
part of: Orphanet_207063
part of: Orphanet_217610
tree view: Autosomal recessive limb-girdle muscular dystrophy
tree view: Orphanet_207063
tree view: Orphanet_217610
alternative term: Beta-sarcoglycanopathy
alternative term: LGMD2E
alternative term: Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
definition: Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
definition citation: orphanet
has db xref: ICD-10:G71.0
has db xref: OMIM:604286
has db xref: UMLS:C1858593
has db xref: UMLS:C2930900
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409984
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409976
  intersection of: Restriction
    has value: 0.1
    on property: Orphanet C028
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_410224
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
  intersection of: Restriction
    has value: 0.07
    on property: Orphanet C028
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive limb-girdle muscular dystrophy
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_207063
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217610
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409947
notation: ORPHA:119

Atelosteogenesis type I
part of: Orphanet_138055
part of: Orphanet_93425
part of: Orphanet_93441
tree view: Orphanet_138055
tree view: Orphanet_93425
tree view: Orphanet_93441
alternative term: AO1
alternative term: AOI
alternative term: Atelosteogenesis type 1
alternative term: Giant cell chondrodysplasia
alternative term: Spondylo-humero-femoral dysplasia
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q78.8
has db xref: MeSH:C535396
has db xref: OMIM:108720
has db xref: UMLS:C0265283
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 12.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_138055
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93425
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93441
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409929
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409943
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1190

branched chain keto acid dehydrogenase E1, alpha polypeptide
alternative term: MSU
alternative term: maple syrup urine disease
has db xref: Ensembl:ENSG00000248098
has db xref: Genatlas:BCKDHA
has db xref: HGNC:986
has db xref: OMIM:608348
has db xref: Reactome:P12694
has db xref: SwissProt:P12694
symbol: BCKDHA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_268145
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_268162
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_268173
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_268184
subclass of: Restriction
  has value: 19q13.2
  on property: Orphanet C040

branched chain keto acid dehydrogenase E1 subunit beta
alternative term: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
alternative term: maple syrup urine disease
has db xref: Ensembl:ENSG00000083123
has db xref: Genatlas:BCKDHB
has db xref: HGNC:987
has db xref: OMIM:248611
has db xref: Reactome:P21953
has db xref: SwissProt:P21953
symbol: BCKDHB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_268145
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_268162
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_268173
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_268184
subclass of: Restriction
  has value: 6q14.1
  on property: Orphanet C040

BCL2, apoptosis regulator
alternative term: Bcl-2
alternative term: PPP1R50
alternative term: protein phosphatase 1, regulatory subunit 50
has db xref: Ensembl:ENSG00000171791
has db xref: Genatlas:BCL2
has db xref: HGNC:990
has db xref: OMIM:151430
has db xref: Reactome:P10415
has db xref: SwissProt:P10415
symbol: BCL2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_480541
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 545
subclass of: Restriction
  on property: Orphanet_465410
  some values from: Orphanet_98839
subclass of: Restriction
  has value: 18q21.33
  on property: Orphanet C040

BCL6 corepressor
alternative term: FLJ20285
alternative term: KIAA1575
has db xref: Ensembl:ENSG00000183337
has db xref: Genatlas:BCOR
has db xref: HGNC:20893
has db xref: OMIM:300485
has db xref: Reactome:Q6W2J9
has db xref: SwissProt:Q6W2J9
symbol: BCOR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2712
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 568
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_457246
subclass of: Restriction
  has value: Xp11.4
  on property: Orphanet C040

BCR, RhoGEF and GTPase activating protein
alternative term: ALL
alternative term: CML
alternative term: D22S662
alternative term: PHL
has db xref: Ensembl:ENSG00000186716
has db xref: Genatlas:BCR
has db xref: HGNC:1014
has db xref: IUPHAR:2755
has db xref: OMIM:151410
has db xref: Reactome:P11274
has db xref: SwissProt:P11274
symbol: BCR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 521
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_99860
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_99861
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_261330
subclass of: Restriction
  has value: 22q11.23
  on property: Orphanet C040

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
alternative term: BCS
alternative term: BJS
alternative term: Bjornstad syndrome
alternative term: GRACILE syndrome
alternative term: Hs.6719
alternative term: h-BCS
has db xref: Ensembl:ENSG00000074582
has db xref: Genatlas:BCS1L
has db xref: HGNC:1020
has db xref: OMIM:603647
has db xref: Reactome:Q9Y276
has db xref: SwissProt:Q9Y276
symbol: BCS1L
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 123
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1460
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_254902
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_53693
subclass of: Restriction
  has value: 2q35
  on property: Orphanet C040

brain derived neurotrophic factor
alternative term: neurotrophin
has db xref: Ensembl:ENSG00000176697
has db xref: Genatlas:BDNF
has db xref: HGNC:1033
has db xref: OMIM:113505
has db xref: SwissProt:P23560
symbol: BDNF
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317346
  some values from: Orphanet 893
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 661
subclass of: Restriction
  has value: 11p14.1
  on property: Orphanet C040

bestrophin 1
alternative term: BEST
alternative term: BMD
alternative term: Best disease
alternative term: RP50
has db xref: Ensembl:ENSG00000167995
has db xref: Genatlas:BEST1
has db xref: HGNC:12703
has db xref: OMIM:607854
has db xref: Reactome:O76090
has db xref: SwissProt:O76090
symbol: BEST1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1243
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_139455
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_263347
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3086
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99000
subclass of: Restriction
  has value: 11q12.3
  on property: Orphanet C040

beaded filament structural protein 2
alternative term: CP47
alternative term: CP49
alternative term: LIFL-L
alternative term: phakinin
has db xref: Ensembl:ENSG00000170819
has db xref: Genatlas:BFSP2
has db xref: HGNC:1041
has db xref: OMIM:603212
has db xref: Reactome:Q13515
has db xref: SwissProt:Q13515
symbol: BFSP2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_441452
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98984
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98985
subclass of: Restriction
  has value: 3q22.1
  on property: Orphanet C040

biogenesis of lysosomal organelles complex 1 subunit 3
alternative term: BLOC-1 subunit 3
alternative term: BLOS3
alternative term: Biogenesis of Lysosome-related Organelles complex-1 Subunit 3
alternative term: HPS8
alternative term: Hermansky-Pudlak syndrome 8
has db xref: Ensembl:ENSG00000189114
has db xref: Genatlas:BLOC1S3
has db xref: HGNC:20914
has db xref: OMIM:609762
has db xref: Reactome:Q6QNY0
has db xref: SwissProt:Q6QNY0
symbol: BLOC1S3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_231537
subclass of: Restriction
  has value: 19q13.32
  on property: Orphanet C040

bone morphogenetic protein receptor type 1A
alternative term: ALK3
alternative term: CD292
has db xref: Ensembl:ENSG00000107779
has db xref: Genatlas:BMPR1A
has db xref: HGNC:1076
has db xref: IUPHAR:1786
has db xref: OMIM:601299
has db xref: Reactome:P36894
has db xref: SwissProt:P36894
symbol: BMPR1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_329971
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_79076
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_440437
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_157794
subclass of: Restriction
  has value: 10q23.2
  on property: Orphanet C040

bone morphogenetic protein receptor type 1B
alternative term: ALK6
alternative term: CDw293
has db xref: Ensembl:ENSG00000138696
has db xref: Genatlas:BMPR1B
has db xref: HGNC:1077
has db xref: IUPHAR:1789
has db xref: OMIM:603248
has db xref: Reactome:O00238
has db xref: SwissProt:O00238
symbol: BMPR1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2639
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93396
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_93384
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 2098
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_93388
subclass of: Restriction
  has value: 4q22.3
  on property: Orphanet C040

bone morphogenetic protein receptor type 2
alternative term: BMPR-II
alternative term: BMPR3
alternative term: BRK-3
alternative term: T-ALK
has db xref: Ensembl:ENSG00000204217
has db xref: Genatlas:BMPR2
has db xref: HGNC:1078
has db xref: IUPHAR:1794
has db xref: OMIM:600799
has db xref: Reactome:Q13873
has db xref: SwissProt:Q13873
symbol: BMPR2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_275786
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_31837
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_275777
subclass of: Restriction
  has value: 2q33.1-q33.2
  on property: Orphanet C040

bisphosphoglycerate mutase
has db xref: Ensembl:ENSG00000172331
has db xref: Genatlas:BPGM
has db xref: HGNC:1093
has db xref: OMIM:613896
has db xref: Reactome:P07738
has db xref: SwissProt:P07738
symbol: BPGM
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 714
subclass of: Restriction
  has value: 7q33
  on property: Orphanet C040

B-Raf proto-oncogene, serine/threonine kinase
alternative term: BRAF1
has db xref: Ensembl:ENSG00000157764
has db xref: Genatlas:BRAF
has db xref: HGNC:1097
has db xref: IUPHAR:1943
has db xref: OMIM:164757
has db xref: Reactome:P15056
has db xref: SwissProt:P15056
symbol: BRAF
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 500
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 648
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet 146
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_251615
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_54595
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_58017
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_99872
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_251615
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 1340
subclass of: Restriction
  has value: 7q34
  on property: Orphanet C040

BRCA1, DNA repair associated
alternative term: BRCA1/BRCA2-containing complex, subunit 1
alternative term: BRCC1
alternative term: FANCS
alternative term: Fanconi anemia, complementation group S
alternative term: PPP1R53
alternative term: RNF53
alternative term: protein phosphatase 1, regulatory subunit 53
has db xref: Ensembl:ENSG00000012048
has db xref: Genatlas:BRCA1
has db xref: HGNC:1100
has db xref: OMIM:113705
has db xref: Reactome:P38398
has db xref: SwissProt:P38398
symbol: BRCA1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 1331
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 1333
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_168829
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_213524
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_227535
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 145
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 84
subclass of: Restriction
  has value: 17q21.31
  on property: Orphanet C040

BRCA2, DNA repair associated
alternative term: BRCA1/BRCA2-containing complex, subunit 2
alternative term: BRCC2
alternative term: FAD
alternative term: FAD1
alternative term: XRCC11
has db xref: Ensembl:ENSG00000139618
has db xref: Genatlas:BRCA2
has db xref: HGNC:1101
has db xref: OMIM:600185
has db xref: Reactome:P51587
has db xref: SwissProt:P51587
symbol: BRCA2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_319462
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 84
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 1331
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 1333
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_213524
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_227535
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 654
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 145
subclass of: Restriction
  has value: 13q13.1
  on property: Orphanet C040

BRCA1 interacting protein C-terminal helicase 1
alternative term: BACH1
alternative term: BRCA1/BRCA2-associated helicase 1
alternative term: FANCJ
alternative term: OF
has db xref: Ensembl:ENSG00000136492
has db xref: Genatlas:BRIP1
has db xref: HGNC:20473
has db xref: OMIM:605882
has db xref: Reactome:Q9BX63
has db xref: SwissProt:Q9BX63
symbol: BRIP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 84
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 145
subclass of: Restriction
  has value: 17q23.2
  on property: Orphanet C040

BSCL2, seipin lipid droplet biogenesis associated
alternative term: seipin
has db xref: Ensembl:ENSG00000168000
has db xref: Genatlas:BSCL2
has db xref: HGNC:15832
has db xref: OMIM:606158
has db xref: SwissProt:Q96G97
symbol: BSCL2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Autosomal dominant spastic paraplegia type 17
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_139536
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_363400
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 528
subclass of: Restriction
  has value: 11q12.3
  on property: Orphanet C040

barttin CLCNK type accessory beta subunit
alternative term: BART
has db xref: Ensembl:ENSG00000162399
has db xref: Genatlas:BSND
has db xref: HGNC:16512
has db xref: OMIM:606412
has db xref: Reactome:Q8WZ55
has db xref: SwissProt:Q8WZ55
symbol: BSND
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_89938
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90636
subclass of: Restriction
  has value: 1p32.3
  on property: Orphanet C040

biotinidase
has db xref: Ensembl:ENSG00000169814
has db xref: Genatlas:BTD
has db xref: HGNC:1122
has db xref: OMIM:609019
has db xref: Reactome:P43251
has db xref: SwissProt:P43251
symbol: BTD
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79241
subclass of: Restriction
  has value: 3p25.1
  on property: Orphanet C040

Bruton tyrosine kinase
alternative term: ATK
alternative term: Bruton's tyrosine kinase
alternative term: PSCTK1
alternative term: XLA
has db xref: Ensembl:ENSG00000010671
has db xref: Genatlas:BTK
has db xref: HGNC:1133
has db xref: IUPHAR:1948
has db xref: OMIM:300300
has db xref: Reactome:Q06187
has db xref: SwissProt:Q06187
symbol: BTK
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 47
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 632
subclass of: Restriction
  has value: Xq22.1
  on property: Orphanet C040

BUB1 mitotic checkpoint serine/threonine kinase B
alternative term: BUBR1
alternative term: Bub1A
alternative term: MAD3L
alternative term: SSK1
has db xref: Ensembl:ENSG00000156970
has db xref: Genatlas:BUB1B
has db xref: HGNC:1149
has db xref: IUPHAR:1950
has db xref: OMIM:602860
has db xref: Reactome:O60566
has db xref: SwissProt:O60566
symbol: BUB1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Mosaic variegated aneuploidy syndrome
subclass of: Restriction
  has value: 15q15.1
  on property: Orphanet C040

complement C2
has db xref: Ensembl:ENSG00000166278
has db xref: Genatlas:C2
has db xref: HGNC:1248
has db xref: OMIM:613927
has db xref: Reactome:P06681
has db xref: SwissProt:P06681
symbol: C2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_169147
subclass of: Restriction
  has value: 6p21.33
  on property: Orphanet C040

M-phase specific PLK1 interacting protein
alternative term: ORF20
alternative term: TTDN1
alternative term: tricothiodystrophy, non-photosensitive 1
has db xref: Ensembl:ENSG00000168303
has db xref: Genatlas:C7orf11
has db xref: HGNC:16002
has db xref: OMIM:609188
has db xref: SwissProt:Q8TAP9
symbol: MPLKIP
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_33364
subclass of: Restriction
  has value: 7p14.1
  on property: Orphanet C040

carbonic anhydrase 2
alternative term: CA-II
alternative term: CAII
alternative term: Car2
has db xref: Ensembl:ENSG00000104267
has db xref: Genatlas:CA2
has db xref: HGNC:1373
has db xref: OMIM:611492
has db xref: Reactome:P00918
has db xref: SwissProt:P00918
symbol: CA2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2785
subclass of: Restriction
  has value: 8q21.2
  on property: Orphanet C040

carbonic anhydrase 4
alternative term: CAIV
alternative term: Car4
has db xref: Ensembl:ENSG00000167434
has db xref: Genatlas:CA4
has db xref: HGNC:1375
has db xref: IUPHAR:2599
has db xref: OMIM:114760
has db xref: Reactome:P22748
has db xref: SwissProt:P22748
symbol: CA4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 17q23.1
  on property: Orphanet C040

calcium binding protein 4
alternative term: CSNB2B
has db xref: Ensembl:ENSG00000175544
has db xref: Genatlas:CABP4
has db xref: HGNC:1386
has db xref: OMIM:608965
has db xref: SwissProt:P57796
symbol: CABP4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 215
subclass of: Restriction
  has value: 11q13.2
  on property: Orphanet C040

calcium voltage-gated channel subunit alpha1 A
alternative term: APCA
alternative term: Cav2.1
alternative term: EA2
alternative term: FHM
alternative term: HPCA
has db xref: Ensembl:ENSG00000141837
has db xref: Genatlas:CACNA1A
has db xref: HGNC:1388
has db xref: IUPHAR:532
has db xref: OMIM:601011
has db xref: Reactome:O00555
has db xref: SwissProt:O00555
symbol: CACNA1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_442835
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 569
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_71518
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98758
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 2131
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 97
subclass of: Restriction
  has value: 19p13.13
  on property: Orphanet C040

calcium voltage-gated channel subunit alpha1 C
alternative term: CACH2
alternative term: CACN2
alternative term: Cav1.2
alternative term: LQT8
alternative term: TS
has db xref: Ensembl:ENSG00000151067
has db xref: Genatlas:CACNA1C
has db xref: HGNC:1390
has db xref: IUPHAR:529
has db xref: OMIM:114205
has db xref: Reactome:Q13936
has db xref: SwissProt:Q13936
symbol: CACNA1C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 130
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_65283
subclass of: Restriction
  has value: 12p13.33
  on property: Orphanet C040

calcium voltage-gated channel subunit alpha1 F
alternative term: CORDX3
alternative term: CSNB2A
alternative term: CSNBX2
alternative term: Cav1.4
alternative term: JM8
alternative term: JMC8
alternative term: OA2
has db xref: Ensembl:ENSG00000102001
has db xref: Genatlas:CACNA1F
has db xref: HGNC:1393
has db xref: IUPHAR:531
has db xref: OMIM:300110
has db xref: Reactome:O60840
has db xref: SwissProt:O60840
symbol: CACNA1F
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_178333
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1872
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 215
subclass of: Restriction
  has value: Xp11.23
  on property: Orphanet C040

calcium voltage-gated channel subunit alpha1 S
alternative term: Cav1.1
alternative term: hypoPP
has db xref: Ensembl:ENSG00000081248
has db xref: Genatlas:CACNA1S
has db xref: HGNC:1397
has db xref: IUPHAR:528
has db xref: OMIM:114208
has db xref: Reactome:Q13698
has db xref: SwissProt:Q13698
symbol: CACNA1S
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_397755
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 681
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 423
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_79102
subclass of: Restriction
  has value: 1q32.1
  on property: Orphanet C040

calcium voltage-gated channel auxiliary subunit beta 2
has db xref: Ensembl:ENSG00000165995
has db xref: Genatlas:CACNB2
has db xref: HGNC:1402
has db xref: OMIM:600003
has db xref: Reactome:Q08289
has db xref: SwissProt:Q08289
symbol: CACNB2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 130
subclass of: Restriction
  has value: 10p12
  on property: Orphanet C040

calcium voltage-gated channel auxiliary subunit beta 4
alternative term: EJM4
has db xref: Ensembl:ENSG00000182389
has db xref: Genatlas:CACNB4
has db xref: HGNC:1404
has db xref: OMIM:601949
has db xref: Reactome:O00305
has db xref: SwissProt:O00305
symbol: CACNB4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_211067
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 307
subclass of: Restriction
  has value: 2q23.3
  on property: Orphanet C040

calpain 3
alternative term: CANP3
alternative term: nCL-1
alternative term: p94
has db xref: Ensembl:ENSG00000092529
has db xref: Genatlas:CAPN3
has db xref: HGNC:1480
has db xref: OMIM:114240
has db xref: Reactome:P20807
has db xref: SwissProt:P20807
symbol: CAPN3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 267
subclass of: Restriction
  has value: 15q15.1
  on property: Orphanet C040

caspase 10
alternative term: MCH4
has db xref: Ensembl:ENSG00000003400
has db xref: Genatlas:CASP10
has db xref: HGNC:1500
has db xref: IUPHAR:1626
has db xref: OMIM:601762
has db xref: Reactome:Q92851
has db xref: SwissProt:Q92851
symbol: CASP10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3261
subclass of: Restriction
  has value: 2q33.1
  on property: Orphanet C040

calsequestrin 2
alternative term: PDIB2
has db xref: Ensembl:ENSG00000118729
has db xref: Genatlas:CASQ2
has db xref: HGNC:1513
has db xref: OMIM:114251
has db xref: Reactome:O14958
has db xref: SwissProt:O14958
symbol: CASQ2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3286
subclass of: Restriction
  has value: 1p13.1
  on property: Orphanet C040

calcium sensing receptor
alternative term: FHH
alternative term: GPRC2A
alternative term: NSHPT
alternative term: severe neonatal hyperparathyroidism
has db xref: Ensembl:ENSG00000036828
has db xref: Genatlas:CASR
has db xref: HGNC:1514
has db xref: IUPHAR:54
has db xref: OMIM:601199
has db xref: Reactome:P41180
has db xref: SwissProt:P41180
symbol: CASR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 676
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 417
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_93372
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_263417
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet 428
subclass of: Restriction
  has value: 3q13.33-q21.1
  on property: Orphanet C040

catalase
has db xref: Ensembl:ENSG00000121691
has db xref: Genatlas:CAT
has db xref: HGNC:1516
has db xref: OMIM:115500
has db xref: Reactome:P04040
has db xref: SwissProt:P04040
symbol: CAT
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 926
subclass of: Restriction
  has value: 11p13
  on property: Orphanet C040

caveolin 3
alternative term: LGMD1C
alternative term: LQT9
alternative term: M-caveolin
alternative term: VIP-21
alternative term: VIP21
has db xref: Ensembl:ENSG00000182533
has db xref: Genatlas:CAV3
has db xref: HGNC:1529
has db xref: OMIM:601253
has db xref: Reactome:P56539
has db xref: SwissProt:P56539
symbol: CAV3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_206599
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 265
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_488650
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_97238
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Romano-Ward syndrome
subclass of: Restriction
  has value: 3p25.3
  on property: Orphanet C040

cystathionine-beta-synthase
alternative term: HIP4
has db xref: Ensembl:ENSG00000160200
has db xref: Genatlas:CBS
has db xref: HGNC:1550
has db xref: OMIM:613381
has db xref: Reactome:P35520
has db xref: SwissProt:P35520
symbol: CBS
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 394
subclass of: Restriction
  has value: 21q22.3
  on property: Orphanet C040

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
part of: Orphanet_166463
part of: Orphanet_90642
part of: Orphanet_93547
tree view: Orphanet_166463
tree view: Orphanet_90642
tree view: Orphanet_93547
alternative term: Feigenbaum-Bergeron-Richardson syndrome
definition: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: OMIM:209010
has db xref: UMLS:C2931125
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 2.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_166463
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1192

coiled-coil and C2 domain containing 1A
alternative term: FLJ20241
alternative term: MRT3
alternative term: mental retardation, nonsyndromic, autosomal recessive, 3
has db xref: Ensembl:ENSG00000132024
has db xref: Genatlas:CC2D1A
has db xref: HGNC:30237
has db xref: OMIM:610055
has db xref: SwissProt:Q6P1N0
symbol: CC2D1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_88616
subclass of: Restriction
  has value: 19p13.12
  on property: Orphanet C040

coiled-coil domain containing 6
alternative term: DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1
alternative term: H4
alternative term: PTC
alternative term: TPC
has db xref: Ensembl:ENSG00000108091
has db xref: Genatlas:CCDC6
has db xref: HGNC:18782
has db xref: OMIM:601985
has db xref: SwissProt:Q16204
symbol: CCDC6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 146
subclass of: Restriction
  has value: 10q21.2
  on property: Orphanet C040

CCM2 scaffold protein
alternative term: MGC4607
alternative term: OSM
alternative term: malcavernin
alternative term: osmosensing scaffold for MEKK3
has db xref: Ensembl:ENSG00000136280
has db xref: Genatlas:CCM2
has db xref: HGNC:21708
has db xref: OMIM:607929
has db xref: SwissProt:Q9BSQ5
symbol: CCM2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_221061
subclass of: Restriction
  has value: 7p13
  on property: Orphanet C040

cyclin D1
alternative term: B-cell CLL/lymphoma 1
alternative term: G1/S-specific cyclin D1
alternative term: U21B31
alternative term: parathyroid adenomatosis 1
has db xref: Ensembl:ENSG00000110092
has db xref: Genatlas:CCND1
has db xref: HGNC:1582
has db xref: OMIM:168461
has db xref: Reactome:P24385
has db xref: SwissProt:P24385
symbol: CCND1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_52416
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_29073
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet_67038
subclass of: Restriction
  has value: 11q13.3
  on property: Orphanet C040

chaperonin containing TCP1 subunit 5
alternative term: KIAA0098
has db xref: Ensembl:ENSG00000150753
has db xref: Genatlas:CCT5
has db xref: HGNC:1618
has db xref: OMIM:610150
has db xref: Reactome:P48643
has db xref: SwissProt:P48643
symbol: CCT5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_139578
subclass of: Restriction
  has value: 5p15.2
  on property: Orphanet C040

CD19 molecule
has db xref: Ensembl:ENSG00000177455
has db xref: Genatlas:CD19
has db xref: HGNC:1633
has db xref: OMIM:107265
has db xref: Reactome:P15391
has db xref: SwissProt:P15391
symbol: CD19
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1572
subclass of: Restriction
  has value: 16p11.2
  on property: Orphanet C040

CD40 molecule
alternative term: Bp50
alternative term: p50
has db xref: Ensembl:ENSG00000101017
has db xref: Genatlas:CD40
has db xref: HGNC:11919
has db xref: OMIM:109535
has db xref: Reactome:P25942
has db xref: SwissProt:P25942
symbol: CD40
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Hyper-IgM syndrome type 3
subclass of: Restriction
  has value: 20q13.12
  on property: Orphanet C040

CD40 ligand
alternative term: CD154
alternative term: CD40 antigen ligand
alternative term: CD40L
alternative term: T-B cell-activating molecule
alternative term: TNF-related activation protein
alternative term: TRAP
alternative term: gp39
alternative term: hCD40L
alternative term: hyper-IgM syndrome
alternative term: tumor necrosis factor (ligand) superfamily member 5
has db xref: Ensembl:ENSG00000102245
has db xref: Genatlas:CD40LG
has db xref: HGNC:11935
has db xref: OMIM:300386
has db xref: Reactome:P29965
has db xref: SwissProt:P29965
symbol: CD40LG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: X-linked hyper-IgM syndrome
subclass of: Restriction
  has value: Xq26.3
  on property: Orphanet C040

CD46 molecule
alternative term: MGC26544
alternative term: TLX
alternative term: TRA2.10
has db xref: Ensembl:ENSG00000117335
has db xref: Genatlas:CD46
has db xref: HGNC:6953
has db xref: OMIM:120920
has db xref: Reactome:P15529
has db xref: SwissProt:P15529
symbol: CD46
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93576
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_244242
subclass of: Restriction
  has value: 1q32.2
  on property: Orphanet C040

codanin 1
alternative term: CDA-I
alternative term: CDAI
has db xref: Ensembl:ENSG00000140326
has db xref: Genatlas:CDAN1
has db xref: HGNC:1713
has db xref: OMIM:607465
has db xref: Reactome:Q8IWY9
has db xref: SwissProt:Q8IWY9
symbol: CDAN1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98869
subclass of: Restriction
  has value: 15q15.2
  on property: Orphanet C040

cell division cycle 73
alternative term: FIHP
alternative term: Paf1/RNA polymerase II complex component
alternative term: parafibromin
has db xref: Ensembl:ENSG00000134371
has db xref: Genatlas:CDC73
has db xref: HGNC:16783
has db xref: OMIM:607393
has db xref: Reactome:Q6P1J9
has db xref: SwissProt:Q6P1J9
symbol: CDC73
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99879
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet 143
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_99880
subclass of: Restriction
  has value: 1q31.2
  on property: Orphanet C040

cadherin 1
alternative term: CD324
alternative term: E-Cadherin
alternative term: uvomorulin
has db xref: Ensembl:ENSG00000039068
has db xref: Genatlas:CDH1
has db xref: HGNC:1748
has db xref: OMIM:192090
has db xref: Reactome:P12830
has db xref: SwissProt:P12830
symbol: CDH1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_26106
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_199306
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 1997
subclass of: Restriction
  has value: 16q22.1
  on property: Orphanet C040

cadherin related 23
alternative term: CDHR23
alternative term: cadherin-related family member 23
has db xref: Ensembl:ENSG00000107736
has db xref: Genatlas:CDH23
has db xref: HGNC:13733
has db xref: OMIM:605516
has db xref: SwissProt:Q9H251
symbol: CDH23
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90636
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 2965
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_314777
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_91347
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_96253
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_231169
subclass of: Restriction
  has value: 10q22.1
  on property: Orphanet C040

cadherin 3
alternative term: CDHP
alternative term: P-cadherin
alternative term: PCAD
has db xref: Ensembl:ENSG00000062038
has db xref: Genatlas:CDH3
has db xref: HGNC:1762
has db xref: OMIM:114021
has db xref: Reactome:P22223
has db xref: SwissProt:P22223
symbol: CDH3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1573
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1897
subclass of: Restriction
  has value: 16q22.1
  on property: Orphanet C040

cyclin dependent kinase 4
alternative term: PSK-J3
has db xref: Ensembl:ENSG00000135446
has db xref: Genatlas:CDK4
has db xref: HGNC:1773
has db xref: IUPHAR:1976
has db xref: OMIM:123829
has db xref: Reactome:P11802
has db xref: SwissProt:P11802
symbol: CDK4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 618
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_99970
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_99971
subclass of: Restriction
  has value: 12q14.1
  on property: Orphanet C040

CDK5 regulatory subunit associated protein 2
alternative term: C48
alternative term: CEP215
alternative term: FLJ10867
alternative term: centrosomin
has db xref: Ensembl:ENSG00000136861
has db xref: Genatlas:CDK5RAP2
has db xref: HGNC:18672
has db xref: OMIM:608201
has db xref: Reactome:Q96SN8
has db xref: SwissProt:Q96SN8
symbol: CDK5RAP2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2512
subclass of: Restriction
  has value: 9q33.2
  on property: Orphanet C040

cyclin dependent kinase like 5
alternative term: CFAP247
alternative term: EIEE2
has db xref: Ensembl:ENSG00000008086
has db xref: Genatlas:CDKL5
has db xref: HGNC:11411
has db xref: IUPHAR:1986
has db xref: OMIM:300203
has db xref: Reactome:O76039
has db xref: SwissProt:O76039
symbol: CDKL5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1934
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3095
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3451
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_505652
subclass of: Restriction
  has value: Xp22.13
  on property: Orphanet C040

Atkin-Flaitz syndrome
part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
part of: Orphanet_98464
tree view: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
tree view: Orphanet_98464
alternative term: X-linked intellectual disability, Atkin type
definition: Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.
definition citation: orphanet
has db xref: ICD-10:Q87.8
has db xref: OMIM:300431
has db xref: UMLS:C0796206
type: Class
subclass of: Orphanet_377789
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 14.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98464
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409934
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
notation: ORPHA:1193

cyclin dependent kinase inhibitor 1C
alternative term: KIP2
alternative term: P57
has db xref: Ensembl:ENSG00000129757
has db xref: Genatlas:CDKN1C
has db xref: HGNC:1786
has db xref: OMIM:600856
has db xref: Reactome:P49918
has db xref: SwissProt:P49918
symbol: CDKN1C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_85173
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_231120
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_397590
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_436144
subclass of: Restriction
  has value: 11p15.4
  on property: Orphanet C040

cyclin dependent kinase inhibitor 2A
alternative term: ARF
alternative term: CDK4I
alternative term: CMM2
alternative term: INK4
alternative term: INK4a
alternative term: MTS1
alternative term: p14
alternative term: p14ARF
alternative term: p16
alternative term: p16INK4a
alternative term: p19
alternative term: p19Arf
has db xref: Ensembl:ENSG00000147889
has db xref: Genatlas:CDKN2A
has db xref: HGNC:1787
has db xref: OMIM:600160
has db xref: Reactome:P42771
has db xref: SwissProt:P42771
symbol: CDKN2A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_404560
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_99860
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_99861
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 1333
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 618
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_252206
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 524
subclass of: Restriction
  has value: 9p21.3
  on property: Orphanet C040

corneodesmosin
alternative term: D6S586E
has db xref: Ensembl:ENSG00000204539
has db xref: Genatlas:CDSN
has db xref: HGNC:1802
has db xref: OMIM:602593
has db xref: Reactome:Q15517
has db xref: SwissProt:Q15517
symbol: CDSN
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_263553
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90368
subclass of: Restriction
  has value: 6p21.33
  on property: Orphanet C040

carboxyl ester lipase
alternative term: BSSL
alternative term: MODY8
alternative term: bile salt-stimulated lipase
has db xref: Ensembl:ENSG00000170835
has db xref: Genatlas:CEL
has db xref: HGNC:1848
has db xref: OMIM:114840
has db xref: Reactome:P19835
has db xref: SwissProt:P19835
symbol: CEL
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 552
subclass of: Restriction
  has value: 9q34.13
  on property: Orphanet C040

centromere protein J
alternative term: BM032
alternative term: CPAP
alternative term: LAP
alternative term: LIP1
alternative term: SASS4
alternative term: SCKL4
alternative term: Sas-4
alternative term: centrosomal P4.1-associated protein
has db xref: Ensembl:ENSG00000151849
has db xref: Genatlas:CENPJ
has db xref: HGNC:17272
has db xref: OMIM:609279
has db xref: Reactome:Q9HC77
has db xref: SwissProt:Q9HC77
symbol: CENPJ
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2512
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 808
subclass of: Restriction
  has value: 13q12.12-q12.13
  on property: Orphanet C040

centrosomal protein 290
alternative term: 3H11Ag
alternative term: BBS14
alternative term: Bardet-Biedl syndrome 14
alternative term: CT87
alternative term: FLJ13615
alternative term: JBTS5
alternative term: Joubert syndrome 5
alternative term: KIAA0373
alternative term: LCA10
alternative term: MKS4
alternative term: Meckel syndrome, type 4
alternative term: NPHP6
alternative term: POC3
alternative term: POC3 centriolar protein homolog (Chlamydomonas)
alternative term: SLSN6
alternative term: cancer/testis antigen 87
alternative term: nephrocystin-6
alternative term: rd16
has db xref: Ensembl:ENSG00000198707
has db xref: Genatlas:CEP290
has db xref: HGNC:29021
has db xref: OMIM:610142
has db xref: Reactome:O15078
has db xref: SwissProt:O15078
symbol: CEP290
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2318
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3156
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 564
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 65
subclass of: Restriction
  has value: 12q21.32
  on property: Orphanet C040

ceramide kinase like
has db xref: Ensembl:ENSG00000188452
has db xref: Genatlas:CERKL
has db xref: HGNC:21699
has db xref: OMIM:608381
has db xref: SwissProt:Q49MI3
symbol: CERKL
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 2q31.3
  on property: Orphanet C040

cholesteryl ester transfer protein
alternative term: BPI fold containing family F
alternative term: BPIFF
has db xref: Ensembl:ENSG00000087237
has db xref: Genatlas:CETP
has db xref: HGNC:1869
has db xref: OMIM:118470
has db xref: Reactome:P11597
has db xref: SwissProt:P11597
symbol: CETP
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79506
subclass of: Restriction
  has value: 16q13
  on property: Orphanet C040

cripto, FRL-1, cryptic family 1
alternative term: CRYPTIC
has db xref: Ensembl:ENSG00000136698
has db xref: Genatlas:CFC1
has db xref: HGNC:18292
has db xref: OMIM:605194
has db xref: Reactome:P0CG37
has db xref: SwissProt:P0CG37
symbol: CFC1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_157769
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_216718
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_216729
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_244283
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_99042
subclass of: Restriction
  has value: 2q21.1
  on property: Orphanet C040

complement factor H
alternative term: ARMD4
alternative term: ARMS1
alternative term: FHL1
alternative term: H factor 2 (complement)
alternative term: HUS
alternative term: age-related maculopathy susceptibility 1
alternative term: beta-1H
has db xref: Ensembl:ENSG00000000971
has db xref: Genatlas:CFH
has db xref: HGNC:4883
has db xref: OMIM:134370
has db xref: Reactome:P08603
has db xref: SwissProt:P08603
symbol: CFH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_200421
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_329903
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_75376
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93571
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93579
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_244242
subclass of: Restriction
  has value: 1q31.3
  on property: Orphanet C040

complement factor I
alternative term: C3b-INA
alternative term: C3b-inactivator
alternative term: FI
alternative term: KAF
alternative term: Konglutinogen-activating factor
has db xref: Ensembl:ENSG00000205403
has db xref: Genatlas:CFI
has db xref: HGNC:5394
has db xref: OMIM:217030
has db xref: Reactome:P05156
has db xref: SwissProt:P05156
symbol: CFI
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_200418
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_75376
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93580
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_244242
subclass of: Restriction
  has value: 4q25
  on property: Orphanet C040

cofilin 2
alternative term: NEM7
alternative term: nemaline myopathy type 7
has db xref: Ensembl:ENSG00000165410
has db xref: Genatlas:CFL2
has db xref: HGNC:1875
has db xref: OMIM:601443
has db xref: Reactome:Q9Y281
has db xref: SwissProt:Q9Y281
symbol: CFL2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_171436
subclass of: Restriction
  has value: 14q13.1
  on property: Orphanet C040

complement factor properdin
has db xref: Ensembl:ENSG00000126759
has db xref: Genatlas:CFP
has db xref: HGNC:8864
has db xref: OMIM:300383
has db xref: Reactome:P27918
has db xref: SwissProt:P27918
symbol: CFP
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2966
subclass of: Restriction
  has value: Xp11.23
  on property: Orphanet C040

cystic fibrosis transmembrane conductance regulator
alternative term: ABC35
alternative term: ATP-binding cassette sub-family C, member 7
alternative term: CFTR/MRP
alternative term: MRP7
alternative term: TNR-CFTR
alternative term: dJ760C5.1
has db xref: Ensembl:ENSG00000001626
has db xref: Genatlas:CFTR
has db xref: HGNC:1884
has db xref: IUPHAR:707
has db xref: OMIM:602421
has db xref: Reactome:P13569
has db xref: SwissProt:P13569
symbol: CFTR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 48
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_399805
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_498359
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_60033
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 676
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 586
subclass of: Restriction
  has value: 7q31.2
  on property: Orphanet C040

choline O-acetyltransferase
has db xref: Ensembl:ENSG00000070748
has db xref: Genatlas:CHAT
has db xref: HGNC:1912
has db xref: OMIM:118490
has db xref: Reactome:P28329
has db xref: SwissProt:P28329
symbol: CHAT
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_98914
subclass of: Restriction
  has value: 10q11.23
  on property: Orphanet C040

chromodomain helicase DNA binding protein 7
alternative term: FLJ20357
alternative term: FLJ20361
alternative term: KIAA1416
has db xref: Ensembl:ENSG00000171316
has db xref: Genatlas:CHD7
has db xref: HGNC:20626
has db xref: OMIM:608892
has db xref: SwissProt:Q9P2D1
symbol: CHD7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 138
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_39041
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 432
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 478
subclass of: Restriction
  has value: 8q12.2
  on property: Orphanet C040

checkpoint kinase 2
alternative term: CDS1
alternative term: CHK2
alternative term: HuCds1
alternative term: PP1425
alternative term: bA444G7
has db xref: Ensembl:ENSG00000183765
has db xref: Genatlas:CHEK2
has db xref: HGNC:16627
has db xref: IUPHAR:1988
has db xref: OMIM:604373
has db xref: Reactome:O96017
has db xref: SwissProt:O96017
symbol: CHEK2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 1331
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 145
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 524
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 668
subclass of: Restriction
  has value: 22q12.1
  on property: Orphanet C040

TMEM70-related mitochondrial encephalo-cardio-myopathy
part of: Orphanet_309136
tree view: Orphanet_309136
alternative term: Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
alternative term: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
alternative term: Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
definition: 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.
definition citation: orphanet
has db xref: ICD-10:G71.3
has db xref: OMIM:614052
has db xref: UMLS:C3279699
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409981
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_309136
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409944
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
notation: ORPHA:1194

CHM, Rab escort protein 1
alternative term: REP-1
has db xref: Ensembl:ENSG00000188419
has db xref: Genatlas:CHM
has db xref: HGNC:1940
has db xref: OMIM:300390
has db xref: Reactome:P24386
has db xref: SwissProt:P24386
symbol: CHM
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 180
subclass of: Restriction
  has value: Xq21.2
  on property: Orphanet C040

charged multivesicular body protein 2B
alternative term: CHMP2.5
alternative term: DKFZP564O123
alternative term: VPS2 homolog B (S. cerevisiae)
alternative term: VPS2B
has db xref: Ensembl:ENSG00000083937
has db xref: Genatlas:CHMP2B
has db xref: HGNC:24537
has db xref: OMIM:609512
has db xref: Reactome:Q9UQN3
has db xref: SwissProt:Q9UQN3
symbol: CHMP2B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 803
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Semantic dementia
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Progressive non-fluent aphasia
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_275864
subclass of: Restriction
  has value: 3p11.2
  on property: Orphanet C040

cholinergic receptor nicotinic alpha 1 subunit
alternative term: acetylcholine receptor, nicotinic, alpha 1 (muscle)
has db xref: Ensembl:ENSG00000138435
has db xref: Genatlas:CHRNA1
has db xref: HGNC:1955
has db xref: IUPHAR:462
has db xref: OMIM:100690
has db xref: Reactome:P02708
has db xref: SwissProt:P02708
symbol: CHRNA1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_33108
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_98913
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_98913
subclass of: Restriction
  has value: 2q31.1
  on property: Orphanet C040

cholinergic receptor nicotinic alpha 4 subunit
alternative term: BFNC
alternative term: acetylcholine receptor, nicotinic, alpha 4 (neuronal)
has db xref: Ensembl:ENSG00000101204
has db xref: Genatlas:CHRNA4
has db xref: HGNC:1958
has db xref: IUPHAR:465
has db xref: OMIM:118504
has db xref: Reactome:P43681
has db xref: SwissProt:P43681
symbol: CHRNA4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98784
subclass of: Restriction
  has value: 20q13.33
  on property: Orphanet C040

cholinergic receptor nicotinic beta 1 subunit
alternative term: acetylcholine receptor, nicotinic, beta 1 (muscle)
has db xref: Ensembl:ENSG00000170175
has db xref: Genatlas:CHRNB1
has db xref: HGNC:1961
has db xref: IUPHAR:471
has db xref: OMIM:100710
has db xref: SwissProt:P11230
symbol: CHRNB1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_98913
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_98913
subclass of: Restriction
  has value: 17p13.1
  on property: Orphanet C040

cholinergic receptor nicotinic delta subunit
alternative term: acetylcholine receptor, nicotinic, delta (muscle)
has db xref: Ensembl:ENSG00000135902
has db xref: Genatlas:CHRND
has db xref: HGNC:1965
has db xref: IUPHAR:476
has db xref: OMIM:100720
has db xref: Reactome:Q07001
has db xref: SwissProt:Q07001
symbol: CHRND
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_33108
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_98913
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_98913
subclass of: Restriction
  has value: 2q37.1
  on property: Orphanet C040

cholinergic receptor nicotinic epsilon subunit
alternative term: ACHRE
alternative term: acetylcholine receptor, nicotinic, epsilon (muscle)
has db xref: Ensembl:ENSG00000108556
has db xref: Genatlas:CHRNE
has db xref: HGNC:1966
has db xref: IUPHAR:477
has db xref: OMIM:100725
has db xref: Reactome:Q04844
has db xref: SwissProt:Q04844
symbol: CHRNE
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_98913
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_98913
subclass of: Restriction
  has value: 17p13.2
  on property: Orphanet C040

cholinergic receptor nicotinic gamma subunit
alternative term: acetylcholine receptor, nicotinic, gamma (muscle)
has db xref: Ensembl:ENSG00000196811
has db xref: Genatlas:CHRNG
has db xref: HGNC:1967
has db xref: IUPHAR:475
has db xref: OMIM:100730
has db xref: Reactome:P07510
has db xref: SwissProt:P07510
symbol: CHRNG
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2990
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_33108
subclass of: Restriction
  has value: 2q37.1
  on property: Orphanet C040

carbohydrate sulfotransferase 3
alternative term: C6ST
alternative term: C6ST1
alternative term: chondroitin 6 sulfotransferase 1
has db xref: Ensembl:ENSG00000122863
has db xref: Genatlas:CHST3
has db xref: HGNC:1971
has db xref: OMIM:603799
has db xref: Reactome:Q7LGC8
has db xref: SwissProt:Q7LGC8
symbol: CHST3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_263463
subclass of: Restriction
  has value: 10q22.1
  on property: Orphanet C040

carbohydrate sulfotransferase 6
has db xref: Ensembl:ENSG00000183196
has db xref: Genatlas:CHST6
has db xref: HGNC:6938
has db xref: OMIM:605294
has db xref: Reactome:Q9GZX3
has db xref: SwissProt:Q9GZX3
symbol: CHST6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_98969
subclass of: Restriction
  has value: 16q23.1
  on property: Orphanet C040

class II major histocompatibility complex transactivator
alternative term: C2TA
alternative term: NLR family, acid domain containing
alternative term: NLRA
alternative term: nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing
has db xref: Ensembl:ENSG00000179583
has db xref: Genatlas:CIITA
has db xref: HGNC:7067
has db xref: OMIM:600005
has db xref: Reactome:P33076
has db xref: SwissProt:P33076
symbol: CIITA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 572
subclass of: Restriction
  has value: 16p13.13
  on property: Orphanet C040

chloride voltage-gated channel 1
alternative term: CLC1
alternative term: ClC-1
alternative term: Thomsen disease, autosomal dominant
has db xref: Ensembl:ENSG00000188037
has db xref: Genatlas:CLCN1
has db xref: HGNC:2019
has db xref: OMIM:118425
has db xref: Reactome:P35523
has db xref: SwissProt:P35523
symbol: CLCN1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 614
subclass of: Restriction
  has value: 7q34
  on property: Orphanet C040

chloride voltage-gated channel 5
alternative term: CLC5
alternative term: ClC-5
alternative term: DENTS
alternative term: Dent disease
alternative term: XLRH
alternative term: XRN
alternative term: hCIC-K2
alternative term: hClC-K2
has db xref: Ensembl:ENSG00000171365
has db xref: Genatlas:CLCN5
has db xref: HGNC:2023
has db xref: OMIM:300008
has db xref: Reactome:P51795
has db xref: SwissProt:P51795
symbol: CLCN5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_93622
subclass of: Restriction
  has value: Xp11.23
  on property: Orphanet C040

chloride voltage-gated channel 7
alternative term: CLC-7
alternative term: CLC7
alternative term: OPTA2
alternative term: PPP1R63
alternative term: protein phosphatase 1, regulatory subunit 63
has db xref: Ensembl:ENSG00000103249
has db xref: Genatlas:CLCN7
has db xref: HGNC:2025
has db xref: OMIM:602727
has db xref: Reactome:P51798
has db xref: SwissProt:P51798
symbol: CLCN7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_210110
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 53
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 667
subclass of: Restriction
  has value: 16p13.3
  on property: Orphanet C040

chloride voltage-gated channel Kb
alternative term: hClC-Kb
has db xref: Ensembl:ENSG00000184908
has db xref: Genatlas:CLCNKB
has db xref: HGNC:2027
has db xref: OMIM:602023
has db xref: Reactome:P51801
has db xref: SwissProt:P51801
symbol: CLCNKB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93605
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 358
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_89938
subclass of: Restriction
  has value: 1p36.13
  on property: Orphanet C040

claudin 1
alternative term: ILVASC
alternative term: SEMP1
alternative term: senescence-associated epithelial membrane protein 1
has db xref: Ensembl:ENSG00000163347
has db xref: Genatlas:CLDN1
has db xref: HGNC:2032
has db xref: OMIM:603718
has db xref: Reactome:O95832
has db xref: SwissProt:O95832
symbol: CLDN1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_59303
subclass of: Restriction
  has value: 3q28
  on property: Orphanet C040

solute carrier family 37 member 4
alternative term: GSD1b
alternative term: GSD1c
alternative term: GSD1d
has db xref: Ensembl:ENSG00000137700
has db xref: Genatlas:SLC37A4
has db xref: HGNC:4061
has db xref: OMIM:602671
has db xref: Reactome:O43826
has db xref: SwissProt:O43826
symbol: SLC37A4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79259
subclass of: Restriction
  has value: 11q23.3
  on property: Orphanet C040

solute carrier family 39 member 4
alternative term: AWMS2
alternative term: ZIP4
has db xref: Ensembl:ENSG00000147804
has db xref: Genatlas:SLC39A4
has db xref: HGNC:17129
has db xref: OMIM:607059
has db xref: Reactome:Q6P5W5
has db xref: SwissProt:Q6P5W5
symbol: SLC39A4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 37
subclass of: Restriction
  has value: 8q24.3
  on property: Orphanet C040

solute carrier family 40 member 1
alternative term: FPN1
alternative term: HFE4
alternative term: IREG1
alternative term: MTP1
alternative term: ferroportin 1
has db xref: Ensembl:ENSG00000138449
has db xref: Genatlas:SLC40A1
has db xref: HGNC:10909
has db xref: OMIM:604653
has db xref: Reactome:Q9NP59
has db xref: SwissProt:Q9NP59
symbol: SLC40A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_139491
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_139491
subclass of: Restriction
  has value: 2q32.2
  on property: Orphanet C040

Congenital atransferrinemia
part of: Orphanet_309842
part of: Orphanet_98360
tree view: Orphanet_309842
tree view: Orphanet_98360
alternative term: Congenital hypotransferrinemia
definition: 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.
definition citation: orphanet
has db xref: ICD-10:E88.0
has db xref: MeSH:C538259
has db xref: OMIM:209300
has db xref: UMLS:C0521802
has db xref: UMLS:C1859593
type: Class
subclass of: Orphanet_377788
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    on property: Orphanet C025
    some values from: Orphanet_409979
subclass of: Class
  intersection of: Restriction
    on property: Orphanet C022
    some values from: Orphanet_409991
  intersection of: Restriction
    has value: 16.0
    on property: Orphanet C024
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_309842
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98360
subclass of: Restriction
  on property: Orphanet C016
  some values from: Orphanet_409930
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409945
subclass of: Restriction
  on property: Orphanet C017
  some values from: Orphanet_409946
notation: ORPHA:1195

adenosine deaminase, RNA specific
alternative term: ADAR1
has db xref: Ensembl:ENSG00000160710
has db xref: Genatlas:ADAR
has db xref: HGNC:225
has db xref: OMIM:146920
has db xref: Reactome:P55265
has db xref: SwissProt:P55265
symbol: ADAR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 41
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 51
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_225154
subclass of: Restriction
  has value: 1q21.3
  on property: Orphanet C040

adenylosuccinate lyase
has db xref: Ensembl:ENSG00000239900
has db xref: Genatlas:ADSL
has db xref: HGNC:291
has db xref: OMIM:608222
has db xref: Reactome:P30566
has db xref: SwissProt:P30566
symbol: ADSL
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 46
subclass of: Restriction
  has value: 22q13.1
  on property: Orphanet C040

AF4/FMR2 family member 2
alternative term: FRAXE
has db xref: Ensembl:ENSG00000155966
has db xref: Genatlas:AFF2
has db xref: HGNC:3776
has db xref: OMIM:300806
has db xref: SwissProt:P51816
symbol: AFF2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: FRAXE intellectual disability
subclass of: Restriction
  has value: Xq28
  on property: Orphanet C040

aspartylglucosaminidase
alternative term: ASRG
alternative term: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
alternative term: glycosylasparaginase
has db xref: Ensembl:ENSG00000038002
has db xref: Genatlas:AGA
has db xref: HGNC:318
has db xref: OMIM:613228
has db xref: Reactome:P20933
has db xref: SwissProt:P20933
symbol: AGA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 93
subclass of: Restriction
  has value: 4q34.3
  on property: Orphanet C040

angiogenic factor with G-patch and FHA domains 1
alternative term: FLJ10283
alternative term: GPATC7
alternative term: GPATCH7
alternative term: HSU84971
alternative term: VG5Q
has db xref: Ensembl:ENSG00000164252
has db xref: Genatlas:AGGF1
has db xref: HGNC:24684
has db xref: OMIM:608464
has db xref: Reactome:Q8N302
has db xref: SwissProt:Q8N302
symbol: AGGF1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_90308
subclass of: Restriction
  has value: 5q13.3
  on property: Orphanet C040

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
alternative term: glycogen debranching enzyme
alternative term: glycogen storage disease type III
has db xref: Ensembl:ENSG00000162688
has db xref: Genatlas:AGL
has db xref: HGNC:321
has db xref: OMIM:610860
has db xref: Reactome:P35573
has db xref: SwissProt:P35573
symbol: AGL
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 366
subclass of: Restriction
  has value: 1p21.2
  on property: Orphanet C040

1-acylglycerol-3-phosphate O-acyltransferase 2
alternative term: LPAAT-beta
alternative term: lysophosphatidic acid acyltransferase, beta
has db xref: Ensembl:ENSG00000169692
has db xref: Genatlas:AGPAT2
has db xref: HGNC:325
has db xref: OMIM:603100
has db xref: Reactome:O15120
has db xref: SwissProt:O15120
symbol: AGPAT2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 528
subclass of: Restriction
  has value: 9q34.3
  on property: Orphanet C040

alkylglycerone phosphate synthase
alternative term: ADAP-S
alternative term: ADAS
alternative term: ADHAPS
alternative term: ADPS
alternative term: ALDHPSY
has db xref: Ensembl:ENSG00000018510
has db xref: Genatlas:AGPS
has db xref: HGNC:327
has db xref: OMIM:603051
has db xref: Reactome:O00116
has db xref: SwissProt:O00116
symbol: AGPS
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_309803
subclass of: Restriction
  has value: 2q31.2
  on property: Orphanet C040

angiotensinogen
alternative term: alpha-1 antiproteinase, antitrypsin
has db xref: Ensembl:ENSG00000135744
has db xref: Genatlas:AGT
has db xref: HGNC:333
has db xref: OMIM:106150
has db xref: Reactome:P01019
has db xref: SwissProt:P01019
symbol: AGT
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_97369
subclass of: Restriction
  has value: 1q42.2
  on property: Orphanet C040

alanine--glyoxylate and serine--pyruvate aminotransferase
alternative term: AGT
alternative term: AGT1
alternative term: AGXT1
alternative term: L-alanine: glyoxylate aminotransferase 1
alternative term: PH1
alternative term: SPT
alternative term: glycolicaciduria
alternative term: oxalosis I
alternative term: primary hyperoxaluria type 1
alternative term: serine:pyruvate aminotransferase
has db xref: Ensembl:ENSG00000172482
has db xref: Genatlas:AGXT
has db xref: HGNC:341
has db xref: OMIM:604285
has db xref: Reactome:P21549
has db xref: SwissProt:P21549
symbol: AGXT
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93598
subclass of: Restriction
  has value: 2q37.3
  on property: Orphanet C040

adenosylhomocysteinase
alternative term: SAHH
has db xref: Ensembl:ENSG00000101444
has db xref: Genatlas:AHCY
has db xref: HGNC:343
has db xref: OMIM:180960
has db xref: Reactome:P23526
has db xref: SwissProt:P23526
symbol: AHCY
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_88618
subclass of: Restriction
  has value: 20q11.22
  on property: Orphanet C040

Abelson helper integration site 1
alternative term: FLJ20069
alternative term: JBTS3
alternative term: Jouberin
alternative term: ORF1
has db xref: Ensembl:ENSG00000135541
has db xref: Genatlas:AHI1
has db xref: HGNC:21575
has db xref: OMIM:608894
has db xref: Reactome:Q8N157
has db xref: SwissProt:Q8N157
symbol: AHI1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_220493
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 475
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 791
subclass of: Restriction
  has value: 6q23.3
  on property: Orphanet C040

activation induced cytidine deaminase
alternative term: AID
alternative term: ARP2
alternative term: CDA2
alternative term: HIGM2
has db xref: Ensembl:ENSG00000111732
has db xref: Genatlas:AICDA
has db xref: HGNC:13203
has db xref: OMIM:605257
has db xref: Reactome:Q9GZX7
has db xref: SwissProt:Q9GZX7
symbol: AICDA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Hyper-IgM syndrome type 2
subclass of: Restriction
  has value: 12p13.31
  on property: Orphanet C040

aryl hydrocarbon receptor interacting protein like 1
has db xref: Ensembl:ENSG00000129221
has db xref: Genatlas:AIPL1
has db xref: HGNC:359
has db xref: OMIM:604392
has db xref: Reactome:Q9NZN9
has db xref: SwissProt:Q9NZN9
symbol: AIPL1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 65
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 1872
subclass of: Restriction
  has value: 17p13.2
  on property: Orphanet C040

autoimmune regulator
alternative term: APS1
alternative term: PGA1
alternative term: autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
has db xref: Ensembl:ENSG00000160224
has db xref: Genatlas:AIRE
has db xref: HGNC:360
has db xref: OMIM:607358
has db xref: Reactome:O43918
has db xref: SwissProt:O43918
symbol: AIRE
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_189466
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 3453
subclass of: Restriction
  has value: 21q22.3
  on property: Orphanet C040

adenylate kinase 1
has db xref: Ensembl:ENSG00000106992
has db xref: Genatlas:AK1
has db xref: HGNC:361
has db xref: OMIM:103000
has db xref: Reactome:P00568
has db xref: SwissProt:P00568
symbol: AK1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_86817
subclass of: Restriction
  has value: 9q34.11
  on property: Orphanet C040

aminolevulinate dehydratase
alternative term: ALADH
alternative term: PBGS
alternative term: porphobilinogen synthase
has db xref: Ensembl:ENSG00000148218
has db xref: Genatlas:ALAD
has db xref: HGNC:395
has db xref: OMIM:125270
has db xref: Reactome:P13716
has db xref: SwissProt:P13716
symbol: ALAD
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Porphyria due to ALA dehydratase deficiency
subclass of: Restriction
  has value: 9q32
  on property: Orphanet C040

5'-aminolevulinate synthase 2
alternative term: sideroblastic/hypochromic anemia
has db xref: Ensembl:ENSG00000158578
has db xref: Genatlas:ALAS2
has db xref: HGNC:397
has db xref: OMIM:301300
has db xref: Reactome:P22557
has db xref: SwissProt:P22557
symbol: ALAS2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_75563
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_443197
subclass of: Restriction
  has value: Xp11.21
  on property: Orphanet C040

albumin
has db xref: Ensembl:ENSG00000163631
has db xref: Genatlas:ALB
has db xref: HGNC:399
has db xref: OMIM:103600
has db xref: Reactome:P02768
has db xref: SwissProt:P02768
symbol: ALB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_86816
subclass of: Restriction
  has value: 4q13.3
  on property: Orphanet C040

aldehyde dehydrogenase 18 family member A1
alternative term: P5CS
has db xref: Ensembl:ENSG00000059573
has db xref: Genatlas:ALDH18A1
has db xref: HGNC:9722
has db xref: OMIM:138250
has db xref: Reactome:P54886
has db xref: SwissProt:P54886
symbol: ALDH18A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_35664
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_90348
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_447753
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_447757
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_447760
subclass of: Restriction
  has value: 10q24.1
  on property: Orphanet C040

aldehyde dehydrogenase 3 family member A2
alternative term: FALDH
alternative term: fatty aldehyde dehydrogenase
has db xref: Ensembl:ENSG00000072210
has db xref: Genatlas:ALDH3A2
has db xref: HGNC:403
has db xref: OMIM:609523
has db xref: Reactome:P51648
has db xref: SwissProt:P51648
symbol: ALDH3A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 816
subclass of: Restriction
  has value: 17p11.2
  on property: Orphanet C040

aldehyde dehydrogenase 4 family member A1
alternative term: Delta-1-pyrroline-5-carboxylate dehydrogenase
alternative term: L-glutamate gamma-semialdehyde dehydrogenase
alternative term: P5CDh
has db xref: Ensembl:ENSG00000159423
has db xref: Genatlas:ALDH4A1
has db xref: HGNC:406
has db xref: OMIM:606811
has db xref: Reactome:P30038
has db xref: SwissProt:P30038
symbol: ALDH4A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79101
subclass of: Restriction
  has value: 1p36.13
  on property: Orphanet C040

aldehyde dehydrogenase 5 family member A1
alternative term: SSADH
alternative term: SSDH
alternative term: succinate-semialdehyde dehydrogenase
has db xref: Ensembl:ENSG00000112294
has db xref: Genatlas:ALDH5A1
has db xref: HGNC:408
has db xref: OMIM:610045
has db xref: Reactome:P51649
has db xref: SwissProt:P51649
symbol: ALDH5A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 22
subclass of: Restriction
  has value: 6p22.3
  on property: Orphanet C040

aldehyde dehydrogenase 7 family member A1
alternative term: 26g turgor protein homolog
alternative term: EPD
alternative term: P6c dehydrogenase
alternative term: PDE
alternative term: alpha-AASA dehydrogenase
alternative term: alpha-aminoadipic semialdehyde dehydrogenase
alternative term: antiquitin 1
alternative term: delta1-piperideine-6-carboxylate dehydrogenease
has db xref: Ensembl:ENSG00000164904
has db xref: Genatlas:ALDH7A1
has db xref: HGNC:877
has db xref: OMIM:107323
has db xref: Reactome:P49419
has db xref: SwissProt:P49419
symbol: ALDH7A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3006
subclass of: Restriction
  has value: 5q23.2
  on property: Orphanet C040

aldolase, fructose-bisphosphate A
has db xref: Ensembl:ENSG00000149925
has db xref: Genatlas:ALDOA
has db xref: HGNC:414
has db xref: OMIM:103850
has db xref: Reactome:P04075
has db xref: SwissProt:P04075
symbol: ALDOA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 57
subclass of: Restriction
  has value: 16p11.2
  on property: Orphanet C040

aldolase, fructose-bisphosphate B
has db xref: Ensembl:ENSG00000136872
has db xref: Genatlas:ALDOB
has db xref: HGNC:417
has db xref: OMIM:612724
has db xref: Reactome:P05062
has db xref: SwissProt:P05062
symbol: ALDOB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 469
subclass of: Restriction
  has value: 9q31.1
  on property: Orphanet C040

ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
alternative term: CDG1K
alternative term: HMAT1
alternative term: HMT-1
alternative term: Mat-1
has db xref: Ensembl:ENSG00000033011
has db xref: Genatlas:ALG1
has db xref: HGNC:18294
has db xref: OMIM:605907
has db xref: Reactome:Q9BT22
has db xref: SwissProt:Q9BT22
symbol: ALG1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  has value: 16p13.3
  on property: Orphanet C040

ALG12, alpha-1,6-mannosyltransferase
alternative term: CDG1G
alternative term: ECM39
alternative term: dol-P-Man dependent alpha-1,6-mannosyltransferase
alternative term: dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
has db xref: Ensembl:ENSG00000182858
has db xref: Genatlas:ALG12
has db xref: HGNC:19358
has db xref: OMIM:607144
has db xref: Reactome:Q9BV10
has db xref: SwissProt:Q9BV10
symbol: ALG12
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79324
subclass of: Restriction
  has value: 22q13.33
  on property: Orphanet C040

ALG2, alpha-1,3/1,6-mannosyltransferase
alternative term: CDG1I
alternative term: CDGIi
alternative term: FLJ14511
alternative term: NET38
alternative term: hALPG2
has db xref: Ensembl:ENSG00000119523
has db xref: Genatlas:ALG2
has db xref: HGNC:23159
has db xref: OMIM:607905
has db xref: Reactome:Q9H553
has db xref: SwissProt:Q9H553
symbol: ALG2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_353327
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79326
subclass of: Restriction
  has value: 9q22.33
  on property: Orphanet C040

ALG3, alpha-1,3- mannosyltransferase
alternative term: CDGS4
alternative term: D16Ertd36e
alternative term: NOT56L
alternative term: Not56
alternative term: carbohydrate deficient glycoprotein syndrome type IV
alternative term: dol-P-Man dependent alpha-1,3- mannosyltransferase
alternative term: dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
has db xref: Ensembl:ENSG00000214160
has db xref: Genatlas:ALG3
has db xref: HGNC:23056
has db xref: OMIM:608750
has db xref: Reactome:Q92685
has db xref: SwissProt:Q92685
symbol: ALG3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79321
subclass of: Restriction
  has value: 3q27.1
  on property: Orphanet C040

ALG6, alpha-1,3-glucosyltransferase
alternative term: 3-glucosyltransferase
has db xref: Ensembl:ENSG00000088035
has db xref: Genatlas:ALG6
has db xref: HGNC:23157
has db xref: OMIM:604566
has db xref: Reactome:Q9Y672
has db xref: SwissProt:Q9Y672
symbol: ALG6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79320
subclass of: Restriction
  has value: 1p31.3
  on property: Orphanet C040

ALG8, alpha-1,3-glucosyltransferase
alternative term: 3-glucosyltransferase
alternative term: MGC2840
has db xref: Ensembl:ENSG00000159063
has db xref: Genatlas:ALG8
has db xref: HGNC:23161
has db xref: OMIM:608103
has db xref: Reactome:Q9BVK2
has db xref: SwissProt:Q9BVK2
symbol: ALG8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79325
subclass of: Restriction
  has value: 11q14.1
  on property: Orphanet C040

ALG9, alpha-1,2-mannosyltransferase
alternative term: dol-P-Man dependent alpha-1,2-mannosyltransferase
alternative term: dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
alternative term: dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
has db xref: Ensembl:ENSG00000086848
has db xref: Genatlas:ALG9
has db xref: HGNC:15672
has db xref: OMIM:606941
has db xref: Reactome:Q9H6U8
has db xref: SwissProt:Q9H6U8
symbol: ALG9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_79328
subclass of: Restriction
  has value: 11q23.1
  on property: Orphanet C040

ALMS1, centrosome and basal body associated protein
alternative term: KIAA0328
has db xref: Ensembl:ENSG00000116127
has db xref: Genatlas:ALMS1
has db xref: HGNC:428
has db xref: OMIM:606844
has db xref: Reactome:Q8TCU4
has db xref: SwissProt:Q8TCU4
symbol: ALMS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 64
subclass of: Restriction
  has value: 2p13.1
  on property: Orphanet C040

arachidonate 12-lipoxygenase, 12R type
alternative term: 12R-LOX
has db xref: Ensembl:ENSG00000179477
has db xref: Genatlas:ALOX12B
has db xref: HGNC:430
has db xref: OMIM:603741
has db xref: Reactome:O75342
has db xref: SwissProt:O75342
symbol: ALOX12B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_281122
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 313
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79394
subclass of: Restriction
  has value: 17p13.1
  on property: Orphanet C040

arachidonate lipoxygenase 3
alternative term: E-LOX
alternative term: Epidermal lipoxygenase-3
alternative term: eLOX3
has db xref: Ensembl:ENSG00000179148
has db xref: Genatlas:ALOXE3
has db xref: HGNC:13743
has db xref: OMIM:607206
has db xref: Reactome:Q9BYJ1
has db xref: SwissProt:Q9BYJ1
symbol: ALOXE3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_281122
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 313
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79394
subclass of: Restriction
  has value: 17p13.1
  on property: Orphanet C040

alkaline phosphatase, liver/bone/kidney
alternative term: TNALP
alternative term: TNAP
alternative term: TNSALP
alternative term: tissue non-specific alkaline phosphatase
has db xref: Ensembl:ENSG00000162551
has db xref: Genatlas:ALPL
has db xref: HGNC:438
has db xref: OMIM:171760
has db xref: Reactome:P05186
has db xref: SwissProt:P05186
symbol: ALPL
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_247623
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_247638
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_247651
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_247667
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_247676
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_247685
subclass of: Restriction
  has value: 1p36.12
  on property: Orphanet C040

ALS2, alsin Rho guanine nucleotide exchange factor
alternative term: Alsin
has db xref: Ensembl:ENSG00000003393
has db xref: Genatlas:ALS2
has db xref: HGNC:443
has db xref: OMIM:606352
has db xref: Reactome:Q96Q42
has db xref: SwissProt:Q96Q42
symbol: ALS2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_247604
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293168
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_300605
subclass of: Restriction
  has value: 2q33.1
  on property: Orphanet C040

ALX homeobox 4
alternative term: FPP
alternative term: KIAA1788
alternative term: PFM
has db xref: Ensembl:ENSG00000052850
has db xref: Genatlas:ALX4
has db xref: HGNC:450
has db xref: OMIM:605420
has db xref: SwissProt:Q9H161
symbol: ALX4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_228390
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet_35093
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_52022
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_60015
subclass of: Restriction
  has value: 11p11.2
  on property: Orphanet C040

amelogenin X-linked
alternative term: amelogenesis imperfecta 1
has db xref: Ensembl:ENSG00000125363
has db xref: Genatlas:AMELX
has db xref: HGNC:461
has db xref: OMIM:300391
has db xref: Reactome:Q99217
has db xref: SwissProt:Q99217
symbol: AMELX
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Hypomaturation amelogenesis imperfecta
subclass of: Restriction
  has value: Xp22.2
  on property: Orphanet C040

anti-Mullerian hormone
alternative term: MIS
has db xref: Ensembl:ENSG00000104899
has db xref: Genatlas:AMH
has db xref: HGNC:464
has db xref: OMIM:600957
has db xref: Reactome:P03971
has db xref: SwissProt:P03971
symbol: AMH
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2856
subclass of: Restriction
  has value: 19p13.3
  on property: Orphanet C040

anti-Mullerian hormone receptor type 2
alternative term: MISR2
alternative term: MISRII
alternative term: Muellerian inhibiting substance type II receptor
has db xref: Ensembl:ENSG00000135409
has db xref: Genatlas:AMHR2
has db xref: HGNC:465
has db xref: IUPHAR:1793
has db xref: OMIM:600956
has db xref: Reactome:Q16671
has db xref: SwissProt:Q16671
symbol: AMHR2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2856
subclass of: Restriction
  has value: 12q13.13
  on property: Orphanet C040

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
has db xref: Ensembl:ENSG00000101935
has db xref: Genatlas:AMMECR1
has db xref: HGNC:467
has db xref: OMIM:300195
has db xref: Reactome:Q9Y4X0
has db xref: SwissProt:Q9Y4X0
symbol: AMMECR1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_86818
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_86818
subclass of: Restriction
  has value: Xq23
  on property: Orphanet C040

solute carrier family 45 member 2
alternative term: AIM-1
alternative term: OCA4
has db xref: Ensembl:ENSG00000164175
has db xref: Genatlas:SLC45A2
has db xref: HGNC:16472
has db xref: OMIM:606202
has db xref: Reactome:Q9UMX9
has db xref: SwissProt:Q9UMX9
symbol: SLC45A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79435
subclass of: Restriction
  has value: 5p13.2
  on property: Orphanet C040

solute carrier family 4 member 1 (Diego blood group)
alternative term: CD233
alternative term: FR
alternative term: Froese blood group
alternative term: RTA1A
alternative term: SW
alternative term: Swann blood group
alternative term: WR
alternative term: Wright blood group
has db xref: Ensembl:ENSG00000004939
has db xref: Genatlas:SLC4A1
has db xref: HGNC:11027
has db xref: OMIM:109270
has db xref: Reactome:P02730
has db xref: SwissProt:P02730
symbol: SLC4A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3202
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_398088
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 822
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93608
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93610
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98868
subclass of: Restriction
  has value: 17q21.31
  on property: Orphanet C040

solute carrier family 4 member 11
alternative term: BTR1
alternative term: FECD4
alternative term: NaBC1
alternative term: dJ794I6.2
has db xref: Ensembl:ENSG00000088836
has db xref: Genatlas:SLC4A11
has db xref: HGNC:16438
has db xref: OMIM:610206
has db xref: SwissProt:Q8NBS3
symbol: SLC4A11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1490
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_293603
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98974
subclass of: Restriction
  has value: 20p13
  on property: Orphanet C040

solute carrier family 4 member 4
alternative term: HNBC1
alternative term: NBC1
alternative term: NBC2
alternative term: hhNMC
alternative term: pNBC
has db xref: Ensembl:ENSG00000080493
has db xref: Genatlas:SLC4A4
has db xref: HGNC:11030
has db xref: OMIM:603345
has db xref: Reactome:Q9Y6R1
has db xref: SwissProt:Q9Y6R1
symbol: SLC4A4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93607
subclass of: Restriction
  has value: 4q13.3
  on property: Orphanet C040

solute carrier family 5 member 1
alternative term: D22S675
alternative term: NAGT
alternative term: sodium/glucose cotransporter 1
has db xref: Ensembl:ENSG00000100170
has db xref: Genatlas:SLC5A1
has db xref: HGNC:11036
has db xref: OMIM:182380
has db xref: Reactome:P13866
has db xref: SwissProt:P13866
symbol: SLC5A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_35710
subclass of: Restriction
  has value: 22q12.3
  on property: Orphanet C040

solute carrier family 5 member 2
has db xref: Ensembl:ENSG00000140675
has db xref: Genatlas:SLC5A2
has db xref: HGNC:11037
has db xref: IUPHAR:916
has db xref: OMIM:182381
has db xref: Reactome:P31639
has db xref: SwissProt:P31639
symbol: SLC5A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_69076
subclass of: Restriction
  has value: 16p11.2
  on property: Orphanet C040

solute carrier family 5 member 5
alternative term: NIS
has db xref: Ensembl:ENSG00000105641
has db xref: Genatlas:SLC5A5
has db xref: HGNC:11040
has db xref: OMIM:601843
has db xref: Reactome:Q92911
has db xref: SwissProt:Q92911
symbol: SLC5A5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_95716
subclass of: Restriction
  has value: 19p13.11
  on property: Orphanet C040

solute carrier family 6 member 19
alternative term: Hartnup disease
has db xref: Ensembl:ENSG00000174358
has db xref: Genatlas:SLC6A19
has db xref: HGNC:27960
has db xref: OMIM:608893
has db xref: Reactome:Q695T7
has db xref: SwissProt:Q695T7
symbol: SLC6A19
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2116
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_42062
subclass of: Restriction
  has value: 5p15.33
  on property: Orphanet C040

solute carrier family 6 member 8
alternative term: CRTR
alternative term: CT1
alternative term: creatine transporter
has db xref: Ensembl:ENSG00000130821
has db xref: Genatlas:SLC6A8
has db xref: HGNC:11055
has db xref: OMIM:300036
has db xref: Reactome:P48029
has db xref: SwissProt:P48029
symbol: SLC6A8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_52503
subclass of: Restriction
  has value: Xq28
  on property: Orphanet C040

solute carrier family 7 member 7
alternative term: y+LAT-1
has db xref: Ensembl:ENSG00000155465
has db xref: Genatlas:SLC7A7
has db xref: HGNC:11065
has db xref: OMIM:603593
has db xref: Reactome:Q9UM01
has db xref: SwissProt:Q9UM01
symbol: SLC7A7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 470
subclass of: Restriction
  has value: 14q11.2
  on property: Orphanet C040

solute carrier family 7 member 9
has db xref: Ensembl:ENSG00000021488
has db xref: Genatlas:SLC7A9
has db xref: HGNC:11067
has db xref: OMIM:604144
has db xref: Reactome:P82251
has db xref: SwissProt:P82251
symbol: SLC7A9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93613
subclass of: Restriction
  has value: 19q13.11
  on property: Orphanet C040

secreted LY6/PLAUR domain containing 1
alternative term: ANUP
alternative term: ARS
alternative term: ARS component B
alternative term: ArsB
alternative term: LY6LS
alternative term: MDM
alternative term: lymphocyte antigen 6-like secreted
has db xref: Ensembl:ENSG00000126233
has db xref: Genatlas:SLURP1
has db xref: HGNC:18746
has db xref: OMIM:606119
has db xref: SwissProt:P55000
symbol: SLURP1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_86923
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_87503
subclass of: Restriction
  has value: 8q24.3
  on property: Orphanet C040

SMAD family member 4
alternative term: DPC4
has db xref: Ensembl:ENSG00000141646
has db xref: Genatlas:SMAD4
has db xref: HGNC:6770
has db xref: OMIM:600993
has db xref: Reactome:Q13485
has db xref: SwissProt:Q13485
symbol: SMAD4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2588
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_329971
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 774
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Orphanet 1333
subclass of: Restriction
  has value: 18q21.2
  on property: Orphanet C040

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
alternative term: ATP-driven annealing helicase
alternative term: HARP
alternative term: HHARP
alternative term: HepA-related protein
has db xref: Ensembl:ENSG00000138375
has db xref: Genatlas:SMARCAL1
has db xref: HGNC:11102
has db xref: OMIM:606622
has db xref: SwissProt:Q9NZC9
symbol: SMARCAL1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1830
subclass of: Restriction
  has value: 2q35
  on property: Orphanet C040

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
alternative term: BAF47
alternative term: Ini1
alternative term: PPP1R144
alternative term: RDT
alternative term: SNF5
alternative term: Sfh1p
alternative term: Snr1
alternative term: hSNFS
alternative term: integrase interactor 1
alternative term: malignant rhabdoid tumor suppressor
alternative term: protein phosphatase 1, regulatory subunit 144
alternative term: sucrose nonfermenting, yeast, homolog-like 1
has db xref: Ensembl:ENSG00000099956
has db xref: Genatlas:SMARCB1
has db xref: HGNC:11103
has db xref: OMIM:601607
has db xref: Reactome:Q12824
has db xref: SwissProt:Q12824
symbol: SMARCB1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 1465
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_263662
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_93921
subclass of: Restriction
  on property: Orphanet_317344
  some values from: Orphanet_99966
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_231108
subclass of: Restriction
  has value: 22q11.23
  on property: Orphanet C040

structural maintenance of chromosomes 1A
alternative term: DXS423E
alternative term: KIAA0178
alternative term: SB1.8
alternative term: Smcb
has db xref: Ensembl:ENSG00000072501
has db xref: Genatlas:SMC1A
has db xref: HGNC:11111
has db xref: OMIM:300040
has db xref: Reactome:Q14683
has db xref: SwissProt:Q14683
symbol: SMC1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 199
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_319182
subclass of: Restriction
  has value: Xp11.22
  on property: Orphanet C040

survival of motor neuron 2, centromeric
alternative term: BCD541
alternative term: GEMIN1
alternative term: SMNC
alternative term: TDRD16B
alternative term: tudor domain containing 16B
has db xref: Ensembl:ENSG00000205571
has db xref: Genatlas:SMN2
has db xref: HGNC:11118
has db xref: OMIM:601627
has db xref: Reactome:Q16637
has db xref: SwissProt:Q16637
symbol: SMN2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317346
  some values from: Orphanet_83330
subclass of: Restriction
  on property: Orphanet_317346
  some values from: Orphanet_83418
subclass of: Restriction
  on property: Orphanet_317346
  some values from: Orphanet_83419
subclass of: Restriction
  on property: Orphanet_317346
  some values from: Orphanet_83420
subclass of: Restriction
  has value: 5q13.2
  on property: Orphanet C040

sphingomyelin phosphodiesterase 1
alternative term: ASM
alternative term: acid sphingomyelinase
has db xref: Ensembl:ENSG00000166311
has db xref: Genatlas:SMPD1
has db xref: HGNC:11120
has db xref: OMIM:607608
has db xref: Reactome:P17405
has db xref: SwissProt:P17405
symbol: SMPD1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_77292
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_77293
subclass of: Restriction
  has value: 11p15.4
  on property: Orphanet C040

snail family transcriptional repressor 2
alternative term: SLUGH
alternative term: SLUGH1
alternative term: SNAIL2
has db xref: Ensembl:ENSG00000019549
has db xref: Genatlas:SNAI2
has db xref: HGNC:11094
has db xref: OMIM:602150
has db xref: Reactome:O43623
has db xref: SwissProt:O43623
symbol: SNAI2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2884
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 895
subclass of: Restriction
  has value: 8q11.21
  on property: Orphanet C040

synaptosome associated protein 29
alternative term: CEDNIK
alternative term: SNAP-29
alternative term: soluble 29 kDa NSF attachment protein
has db xref: Ensembl:ENSG00000099940
has db xref: Genatlas:SNAP29
has db xref: HGNC:11133
has db xref: OMIM:604202
has db xref: Reactome:O95721
has db xref: SwissProt:O95721
symbol: SNAP29
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_66631
subclass of: Restriction
  has value: 22q11.21
  on property: Orphanet C040

synuclein alpha
alternative term: #945;-synuclein
alternative term: NACP
alternative term: PD1
alternative term: alpha-synuclein
alternative term: non A4 component of amyloid precursor
alternative term: α-synuclein
has db xref: Ensembl:ENSG00000145335
has db xref: Genatlas:SNCA
has db xref: HGNC:11138
has db xref: OMIM:163890
has db xref: Reactome:P37840
has db xref: SwissProt:P37840
symbol: SNCA
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_171695
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 2828
subclass of: Restriction
  on property: Orphanet_410296
  some values from: Orphanet_411602
subclass of: Restriction
  has value: 4q22.1
  on property: Orphanet C040

small nuclear ribonucleoprotein polypeptide N
alternative term: HCERN3
alternative term: RT-LI
alternative term: SM protein N
alternative term: SM-D
alternative term: SMN
alternative term: SNRNP-N
alternative term: SNURF-SNRPN
alternative term: small nuclear ribonucleoprotein N
alternative term: tissue-specific splicing protein
has db xref: Ensembl:ENSG00000128739
has db xref: Genatlas:SNRPN
has db xref: HGNC:11164
has db xref: OMIM:182279
has db xref: Reactome:P63162
has db xref: SwissProt:P63162
symbol: SNRPN
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_177901
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_177904
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_177907
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_177910
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_411515
subclass of: Restriction
  on property: Orphanet_317349
  some values from: Orphanet_98754
subclass of: Restriction
  has value: 15q11.2
  on property: Orphanet C040

superoxide dismutase 1
alternative term: IPOA
has db xref: Ensembl:ENSG00000142168
has db xref: Genatlas:SOD1
has db xref: HGNC:11179
has db xref: OMIM:147450
has db xref: Reactome:P00441
has db xref: SwissProt:P00441
symbol: SOD1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 803
subclass of: Restriction
  has value: 21q22.11
  on property: Orphanet C040

SOS Ras/Rac guanine nucleotide exchange factor 1
alternative term: GF1
alternative term: HGF
has db xref: Ensembl:ENSG00000115904
has db xref: Genatlas:SOS1
has db xref: HGNC:11187
has db xref: OMIM:182530
has db xref: Reactome:Q07889
has db xref: SwissProt:Q07889
symbol: SOS1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2024
subclass of: Restriction
  has value: 2p22.1
  on property: Orphanet C040

SRY-box 10
alternative term: DOM
alternative term: WS2E
alternative term: WS4
alternative term: dominant megacolon, mouse, human homolog of
has db xref: Ensembl:ENSG00000100146
has db xref: Genatlas:SOX10
has db xref: HGNC:11190
has db xref: OMIM:602229
has db xref: Reactome:P56693
has db xref: SwissProt:P56693
symbol: SOX10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_163746
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 895
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 897
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 478
subclass of: Restriction
  has value: 22q13.1
  on property: Orphanet C040

SRY-box 18
has db xref: Ensembl:ENSG00000203883
has db xref: Genatlas:SOX18
has db xref: HGNC:11194
has db xref: OMIM:601618
has db xref: SwissProt:P35713
symbol: SOX18
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_69735
subclass of: Restriction
  has value: 20q13.33
  on property: Orphanet C040

SRY-box 2
has db xref: Ensembl:ENSG00000181449
has db xref: Genatlas:SOX2
has db xref: HGNC:11195
has db xref: OMIM:184429
has db xref: Reactome:P48431
has db xref: SwissProt:P48431
symbol: SOX2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2542
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 3157
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_77298
subclass of: Restriction
  has value: 3q26.33
  on property: Orphanet C040

SRY-box 9
alternative term: SRA1
has db xref: Ensembl:ENSG00000125398
has db xref: Genatlas:SOX9
has db xref: HGNC:11204
has db xref: OMIM:608160
has db xref: Reactome:P48436
has db xref: SwissProt:P48436
symbol: SOX9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2138
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 242
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_251510
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 393
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 718
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 140
subclass of: Restriction
  has value: 17q24.3
  on property: Orphanet C040

SP110 nuclear body protein
has db xref: Ensembl:ENSG00000135899
has db xref: Genatlas:SP110
has db xref: HGNC:5401
has db xref: OMIM:604457
has db xref: SwissProt:Q9HB58
symbol: SP110
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_79124
subclass of: Restriction
  has value: 2q37.1
  on property: Orphanet C040

Colonic atresia
part of: Non-syndromic intestinal malformation
tree view: Non-syndromic intestinal malformation
definition: 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.
definition citation: orphanet
has db xref: ICD-10:Q42.9
has db xref: OMIM:303650
has db xref: UMLS:C0266190
type: Class
subclass of: Orphanet_377791
subclass of: Restriction
  on property: part_of
  some values from: Non-syndromic intestinal malformation
notation: ORPHA:1198

spastin
alternative term: ADPSP
alternative term: FSP2
alternative term: KIAA1083
has db xref: Ensembl:ENSG00000021574
has db xref: Genatlas:SPAST
has db xref: HGNC:11233
has db xref: OMIM:604277
has db xref: SwissProt:Q9UBP0
symbol: SPAST
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Autosomal dominant spastic paraplegia type 4
subclass of: Restriction
  has value: 2p22.3
  on property: Orphanet C040

SPG11, spatacsin vesicle trafficking associated
alternative term: FLJ21439
alternative term: spatacsin
has db xref: Ensembl:ENSG00000104133
has db xref: Genatlas:SPG11
has db xref: HGNC:11226
has db xref: OMIM:610844
has db xref: SwissProt:Q96JI7
symbol: SPG11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2822
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_300605
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_466775
subclass of: Restriction
  has value: 15q21.1
  on property: Orphanet C040

spartin
alternative term: KIAA0610
alternative term: TAHCCP1
has db xref: Ensembl:ENSG00000133104
has db xref: Genatlas:SPG20
has db xref: HGNC:18514
has db xref: OMIM:607111
has db xref: Reactome:Q8N0X7
has db xref: SwissProt:Q8N0X7
symbol: SPART
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Autosomal recessive spastic paraplegia type 20
subclass of: Restriction
  has value: 13q13.3
  on property: Orphanet C040

SPG21, maspardin
alternative term: ACP33
alternative term: BM-019
alternative term: GL010
alternative term: MAST
has db xref: Ensembl:ENSG00000090487
has db xref: Genatlas:SPG21
has db xref: HGNC:20373
has db xref: OMIM:608181
has db xref: Reactome:Q9NZD8
has db xref: SwissProt:Q9NZD8
symbol: SPG21
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Autosomal recessive spastic paraplegia type 21
subclass of: Restriction
  has value: 15q22.31
  on property: Orphanet C040

atlastin GTPase 1
alternative term: AD-FSP
alternative term: FSP1
alternative term: atlastin
has db xref: Ensembl:ENSG00000198513
has db xref: Genatlas:ATL1
has db xref: HGNC:11231
has db xref: OMIM:606439
has db xref: Reactome:Q8WXF7
has db xref: SwissProt:Q8WXF7
symbol: ATL1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Autosomal dominant spastic paraplegia type 3
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_36386
subclass of: Restriction
  has value: 14q22.1
  on property: Orphanet C040

SPG7, paraplegin matrix AAA peptidase subunit
alternative term: CAR
alternative term: SPG5C
alternative term: paraplegin
has db xref: Ensembl:ENSG00000197912
has db xref: Genatlas:SPG7
has db xref: HGNC:11237
has db xref: OMIM:602783
has db xref: Reactome:Q9UQ90
has db xref: SwissProt:Q9UQ90
symbol: SPG7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_35689
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_99013
subclass of: Restriction
  has value: 16q24.3
  on property: Orphanet C040

serine peptidase inhibitor, Kazal type 1
alternative term: PCTT
alternative term: PSTI
alternative term: Spink3
alternative term: TATI
has db xref: Ensembl:ENSG00000164266
has db xref: Genatlas:SPINK1
has db xref: HGNC:11244
has db xref: OMIM:167790
has db xref: SwissProt:P00995
symbol: SPINK1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317345
  some values from: Tropical pancreatitis
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 676
subclass of: Restriction
  has value: 5q32
  on property: Orphanet C040

serine peptidase inhibitor, Kazal type 5
alternative term: DKFZp686K19184
alternative term: FLJ21544
alternative term: FLJ97536
alternative term: FLJ97596
alternative term: FLJ99794
alternative term: LEKTI
alternative term: LETKI
alternative term: NETS
alternative term: NS
alternative term: VAKTI
alternative term: lymphoepithelial Kazal-type-related inhibitor
has db xref: Ensembl:ENSG00000133710
has db xref: Genatlas:SPINK5
has db xref: HGNC:15464
has db xref: OMIM:605010
has db xref: Reactome:Q9NQ38
has db xref: SwissProt:Q9NQ38
symbol: SPINK5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 634
subclass of: Restriction
  has value: 5q32
  on property: Orphanet C040

sepiapterin reductase
alternative term: SDR38C1
alternative term: Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
alternative term: short chain dehydrogenase/reductase family 38C, member 1
has db xref: Ensembl:ENSG00000116096
has db xref: Genatlas:SPR
has db xref: HGNC:11257
has db xref: OMIM:182125
has db xref: Reactome:P35270
has db xref: SwissProt:P35270
symbol: SPR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_70594
subclass of: Restriction
  has value: 2p13.2
  on property: Orphanet C040

spectrin alpha, erythrocytic 1
alternative term: EL2
alternative term: elliptocytosis 2
has db xref: Ensembl:ENSG00000163554
has db xref: Genatlas:SPTA1
has db xref: HGNC:11272
has db xref: OMIM:182860
has db xref: Reactome:P02549
has db xref: SwissProt:P02549
symbol: SPTA1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 288
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 822
subclass of: Restriction
  has value: 1q23.1
  on property: Orphanet C040

spectrin beta, erythrocytic
alternative term: spherocytosis, clinical type I
has db xref: Ensembl:ENSG00000070182
has db xref: Genatlas:SPTB
has db xref: HGNC:11274
has db xref: OMIM:182870
has db xref: Reactome:P11277
has db xref: SwissProt:P11277
symbol: SPTB
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 288
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 822
subclass of: Restriction
  has value: 14q23.3
  on property: Orphanet C040

spectrin beta, non-erythrocytic 2
has db xref: Ensembl:ENSG00000173898
has db xref: Genatlas:SPTBN2
has db xref: HGNC:11276
has db xref: OMIM:604985
has db xref: Reactome:O15020
has db xref: SwissProt:O15020
symbol: SPTBN2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_98766
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_352403
subclass of: Restriction
  has value: 11q13.2
  on property: Orphanet C040

serine palmitoyltransferase long chain base subunit 1
alternative term: HSAN1
alternative term: LCB1
alternative term: SPTI
alternative term: hLCB1
has db xref: Ensembl:ENSG00000090054
has db xref: Genatlas:SPTLC1
has db xref: HGNC:11277
has db xref: OMIM:605712
has db xref: Reactome:O15269
has db xref: SwissProt:O15269
symbol: SPTLC1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_36386
subclass of: Restriction
  has value: 9q22.31
  on property: Orphanet C040

steroid 5 alpha-reductase 2
alternative term: 3-oxo-5-alpha-steroid 4-dehydrogenase 2
has db xref: Ensembl:ENSG00000277893
has db xref: Genatlas:SRD5A2
has db xref: HGNC:11285
has db xref: IUPHAR:2633
has db xref: OMIM:607306
has db xref: Reactome:P31213
has db xref: SwissProt:P31213
symbol: SRD5A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 1331
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 753
subclass of: Restriction
  has value: 2p23.1
  on property: Orphanet C040

sushi repeat containing protein X-linked 2
alternative term: SRPUL
has db xref: Ensembl:ENSG00000102359
has db xref: Genatlas:SRPX2
has db xref: HGNC:30668
has db xref: OMIM:300642
has db xref: SwissProt:O60687
symbol: SRPX2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_163721
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 1945
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet_98889
subclass of: Restriction
  has value: Xq22.1
  on property: Orphanet C040

sex determining region Y
alternative term: TDF
alternative term: testis-determining factor
has db xref: Ensembl:ENSG00000184895
has db xref: Genatlas:SRY
has db xref: HGNC:11311
has db xref: OMIM:480000
has db xref: Reactome:Q05066
has db xref: SwissProt:Q05066
symbol: SRY
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 2138
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet_251510
subclass of: Restriction
  on property: Orphanet_317343
  some values from: Orphanet 393
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 1772
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet 242
subclass of: Restriction
  has value: Yp11.2
  on property: Orphanet C040

SS18, nBAF chromatin remodeling complex subunit
alternative term: SYT
has db xref: Ensembl:ENSG00000141380
has db xref: Genatlas:SS18
has db xref: HGNC:11340
has db xref: OMIM:600192
has db xref: SwissProt:Q15532
symbol: SS18
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 3273
subclass of: Restriction
  has value: 18q11.2
  on property: Orphanet C040

SSX family member 1
alternative term: CT5.1
alternative term: cancer/testis antigen family 5, member 1
has db xref: Ensembl:ENSG00000126752
has db xref: Genatlas:SSX1
has db xref: HGNC:11335
has db xref: OMIM:312820
has db xref: SwissProt:Q16384
symbol: SSX1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_317348
  some values from: Orphanet 3273
subclass of: Restriction
  has value: Xp11.23
  on property: Orphanet C040

steroidogenic acute regulatory protein
alternative term: STARD1
alternative term: StAR
alternative term: StAR related lipid transfer (START) domain containing 1
has db xref: Ensembl:ENSG00000147465
has db xref: Genatlas:STAR
has db xref: HGNC:11359
has db xref: OMIM:600617
has db xref: Reactome:P49675
has db xref: SwissProt:P49675
symbol: STAR
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: Orphanet_327767
  some values from: Orphanet 361
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_325524
subclass of: Restriction
  on property: Orphanet_410295
  some values from: Orphanet_325529
subclass of: Restriction
  has value: 8p11.23
  on property: Orphanet C040

signal transducer and activator of transcription 1
alternative term: ISGF-3
alternative term: STAT91
alternative term: transcription factor ISGF-3 components p91/p84
has db xref: Ensembl:ENSG00000115415
has db xref: Genatlas:STAT1
has db xref: HGNC:11362
has db xref: OMIM:600555
has db xref: Reactome:P42224
has db xref: SwissProt:P42224
symbol: STAT1
type: Class
subclass of: Orphanet_410298