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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/602092
http://purl.bioontology.org/ontology/OMIM/602092
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 18A |
| Synonyms |
DFNB18A
DEAFNESS, AUTOSOMAL RECESSIVE 18
DFNB18
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DFNB18A
DEAFNESS, AUTOSOMAL RECESSIVE 18
DFNB18
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 18A
|
| Gene Symbol |
USH1C
DFNB18A
|
| Scope Statement | Prelingual onset [MISCELLANEOUS]
Based on 1 family from Maharashtra state in southwestern India [MISCELLANEOUS]
Caused by mutation in the USH1 protein network component harmonin gene (USH1C, 605242.0008) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 11p15.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 602092
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1865870
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |