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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607084
http://purl.bioontology.org/ontology/OMIM/607084
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 31 |
| Synonyms |
DFNB31
WHIRLER, MOUSE, HOMOLOG OF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DFNB31
WHIRLER, MOUSE, HOMOLOG OF
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 31
|
| Gene Symbol |
WHRN
USH2D
DFNB31
CIP98
KIAA1526
|
| Scope Statement | Based on reports of a consanguineous Jordanian family and a Tunisian family (last curated August 2015) [MISCELLANEOUS]
Caused by mutation in the whirlin gene (WHRN, 607928.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 9q32-q34
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607084
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1846839
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |