loading...| Preferred Name | Otopalatodigital Syndrome Type 1 | |
| Synonyms |
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| Definitions |
A rare, X-linked dominant inherited syndrome caused by mutations in the FLNA gene. It is characterized by hearing loss caused by malformations in the ossicles, cleft palate, wide-set eyes, prominent brow ridges, small and flat nose, and skeletal abnormalities in the fingers and toes. Males usually experience more severe symptoms than females. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C118845 |
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| code |
C118845 |
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| Contributing_Source |
Cellosaurus |
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| definition |
A rare, X-linked dominant inherited syndrome caused by mutations in the FLNA gene. It is characterized by hearing loss caused by malformations in the ossicles, cleft palate, wide-set eyes, prominent brow ridges, small and flat nose, and skeletal abnormalities in the fingers and toes. Males usually experience more severe symptoms than females. |
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| in_subset | ||
| label |
Otopalatodigital Syndrome Type 1 |
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| Preferred_Name |
Otopalatodigital Syndrome Type 1 |
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| prefixIRI |
NCIT:C118845 |
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| prefLabel |
Otopalatodigital Syndrome Type 1 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0265251 |
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| subClassOf |