loading...| Preferred Name | Otopalatodigital Syndrome Type 1 | |
| Synonyms |
Otopalatodigital Syndrome Type 1 |
|
| 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118845 |
|
| code |
C118845 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| 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. |
|
| FULL_SYN |
Otopalatodigital Syndrome Type 1 |
|
| label |
Otopalatodigital Syndrome Type 1 |
|
| Preferred_Name |
Otopalatodigital Syndrome Type 1 |
|
| prefixIRI |
Thesaurus:C118845 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0265251 |
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |