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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615654
http://purl.bioontology.org/ontology/OMIM/615654
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL DOMINANT 58 |
| Synonyms |
DFNA58
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNA58
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL DOMINANT 58
|
| Gene Symbol | DFNA58
|
| Scope Statement | Age of onset from childhood to 33 years [MISCELLANEOUS]
Contiguous gene syndrome caused by 200-kb duplication on 2p14 [MOLECULAR BASIS]
One 6-generation Brazilian family with 12 affected individuals reported (last curated March 2024) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 2p21-p12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615654
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3888210
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |