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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/605583
http://purl.bioontology.org/ontology/OMIM/605583
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL DOMINANT 25 |
| Synonyms |
DFNA25
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNA25
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL DOMINANT 25
|
| Gene Symbol |
DFNA25
SLC17A8
VGLUT3
|
| Scope Statement | Two families have been reported (last curated May 2016) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Affected male members reported earlier onset and were more severely affected [MISCELLANEOUS]
Variable age of onset, ranging from 3 months to over 60 years of age [MISCELLANEOUS]
Caused by mutation in the solute carrier family 17 (vesicular glutamate cotransporter), member 8 gene (SLC17A8, 607557.0001) [MOLECULAR BASIS]
Variable audiometric pattern [MISCELLANEOUS]
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|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 12q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 605583
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1854158
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |