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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Id | http://purl.obolibrary.org/obo/DOID_0111784
http://purl.obolibrary.org/obo/DOID_0111784
|
|---|---|
| Preferred Name | otopalatodigital syndrome type 2 |
| Definitions |
An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.
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| Synonyms |
faciopalatoosseous syndrome
otopalatodigital syndrome type II
OPD2
Andre syndrome
OPD II syndrome
OPD syndrome 2
oto-palato-digital syndrome type 2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. |
|---|---|
| alternative label |
faciopalatoosseous syndrome
otopalatodigital syndrome type II
OPD2
Andre syndrome
OPD II syndrome
OPD syndrome 2
oto-palato-digital syndrome type 2
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See less
|
| preferred label |
otopalatodigital syndrome type 2
|
| label |
otopalatodigital syndrome type 2
|
| prefLabel |
otopalatodigital syndrome type 2
|
| database_cross_reference |
UMLS_CUI:C1844696
SNOMEDCT_US_2023_03_01:42432003
MESH:C538089
GARD:5802
MIM:304120
ORDO:90652
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|
| notation |
DOID:0111784
|
| in_subset | |
| id |
DOID:0111784
|
| note |
An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.
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| has material basis in | |
| has_obo_namespace |
disease_ontology
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| subClassOf | |
| type | |
| has exact synonym |
faciopalatoosseous syndrome
otopalatodigital syndrome type II
OPD2
Andre syndrome
OPD II syndrome
OPD syndrome 2
oto-palato-digital syndrome type 2
See more
See less
|
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