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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618094
http://purl.bioontology.org/ontology/OMIM/618094
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 110 |
| Synonyms |
DFNB110
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNB110
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 110
|
| Gene Symbol |
DFNA9
DFNB110
COCH
|
| Scope Statement | Prelingual onset [MISCELLANEOUS]
Caused by mutation in the cochlin gene (COCH, 603196.0010) [MOLECULAR BASIS]
One family has been reported (last curated August 2018) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 14q12-q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618094
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748162
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |