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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616042
http://purl.bioontology.org/ontology/OMIM/616042
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 103 |
| Synonyms |
DFNB103
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNB103
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 103
|
| Gene Symbol |
DFNB103
CLIC5
|
| Scope Statement | Caused by mutation in the chloride intracellular channel-5 gene (CLIC5, 607293.0001) [MOLECULAR BASIS]
Progression to profound hearing loss affecting all frequencies [MISCELLANEOUS]
Loss initially affects mid and high frequencies [MISCELLANEOUS]
Onset in infancy (first year of life) [MISCELLANEOUS]
One consanguineous Turkish family has been reported (last curated November 2014) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 6p21.1-p12.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616042
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4015050
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |