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loading...| Preferred Name |
Otopalatodigital Syndrome Type 1 |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118845 |
| code |
C118845 |
| 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. |
| label |
Otopalatodigital Syndrome Type 1 |
| Preferred_Name |
Otopalatodigital Syndrome Type 1 |
| prefixIRI |
C118845 |
| prefLabel |
Otopalatodigital Syndrome Type 1 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0265251 |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536065 | Medical Subject Headings | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111783 | Human Disease Ontology 123 | LOOM |