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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/600060
http://purl.bioontology.org/ontology/OMIM/600060
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 2 |
| Synonyms |
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
NSRD2
DFNB2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
NSRD2
DFNB2
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 2
|
| Gene Symbol |
USH1B
DFNB2
MYO7A
DFNA11
|
| Scope Statement | Caused by mutation in the myosin VIIA gene (MYO7A, 276903.0007) [MOLECULAR BASIS]
Allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (DFNA11, 601317) and Usher syndrome type IB (276900) [MISCELLANEOUS]
Onset usually at birth, but may occur later [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 11q13.5
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 600060
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1838701
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |