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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/606012
http://purl.bioontology.org/ontology/OMIM/606012
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL DOMINANT 18 |
| Synonyms |
DFNA18
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNA18
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL DOMINANT 18
|
| Gene Symbol | DFNA18
|
| Scope Statement | Based on one 4-generation German family (last curated August 2015) [MISCELLANEOUS]
Onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 3q22
|
| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
|
| notation | 606012
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1853760
|
| OMIM Entry Type | 5
|
| OMIM MimType Value | perc
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |