loading...| Preferred Name | otopalatodigital syndrome type 1 | |
| Synonyms |
otopalatodigital syndrome type I OPD1 OPD syndrome 1 Taybi syndrome oto-palato-digital syndrome type 1 OPD I syndrome |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111783 |
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| alternative label |
otopalatodigital syndrome type I OPD1 OPD syndrome 1 Taybi syndrome oto-palato-digital syndrome type 1 OPD I syndrome |
|
| database_cross_reference |
NCI:C118845 SNOMEDCT_US_2023_03_01:54036001 UMLS_CUI:C0265251 MESH:C536065 GARD:5121 MIM:311300 ORDO:90650 |
|
| 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. |
|
| has exact synonym |
otopalatodigital syndrome type I OPD1 OPD syndrome 1 Taybi syndrome oto-palato-digital syndrome type 1 OPD I syndrome |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111783 |
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| in_subset | ||
| label |
otopalatodigital syndrome type 1 |
|
| notation |
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. |
|
| preferred label |
otopalatodigital syndrome type 1 |
|
| prefLabel |
otopalatodigital syndrome type 1 |
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| subClassOf |