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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Id | http://purl.obolibrary.org/obo/DOID_0111783
http://purl.obolibrary.org/obo/DOID_0111783
|
|---|---|
| Preferred Name | otopalatodigital syndrome type 1 |
| Definitions |
An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
|
| Synonyms |
otopalatodigital syndrome type I
oto-palato-digital syndrome type 1
OPD I syndrome
Taybi syndrome
OPD syndrome 1
OPD1
|
| Obsolete | true |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. |
|---|---|
| preferred label |
otopalatodigital syndrome type 1
|
| label |
otopalatodigital syndrome type 1
|
| prefLabel |
otopalatodigital syndrome type 1
|
| database_cross_reference |
NCI:C118845
SNOMEDCT_US_2023_03_01:54036001
UMLS_CUI:C0265251
MESH:C536065
OMIM:311300
GARD:5121
ORDO:90650
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|
| notation |
DOID:0111783
|
| in_subset | |
| id |
DOID:0111783
|
| note |
An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
|
| alternative label |
otopalatodigital syndrome type I
oto-palato-digital syndrome type 1
OPD I syndrome
Taybi syndrome
OPD syndrome 1
OPD1
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See less
|
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| owl:deprecated |
true
|
| type | |
| has exact synonym |
otopalatodigital syndrome type I
oto-palato-digital syndrome type 1
OPD I syndrome
Taybi syndrome
OPD syndrome 1
OPD1
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See less
|
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