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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618787
http://purl.bioontology.org/ontology/OMIM/618787
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL DOMINANT 76 |
| Synonyms |
DFNA76
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNA76
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL DOMINANT 76
|
| Gene Symbol |
DFNA76
PLS1
|
| Scope Statement | Caused by mutation in the plastin-1 gene (PLS1, 602734.0001) [MOLECULAR BASIS]
Hearing loss is bilateral symmetric and more severe at higher frequencies in most patients [MISCELLANEOUS]
Non progressive [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 3q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618787
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394080
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |