Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616357
http://purl.bioontology.org/ontology/OMIM/616357
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL DOMINANT 40 |
| Synonyms |
DFNA40
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNA40
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL DOMINANT 40
|
| Gene Symbol |
DFNA40
CRYM
|
| Scope Statement | Caused by mutation in the mu crystallin gene (CRYM, 123740.0001) [MOLECULAR BASIS]
Diagnosis by age 15 months [MISCELLANEOUS]
Based on a report of a family and 1 sporadic patient (last curated May 2015) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 16p13.11-p12.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616357
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4084708
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |