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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608224
http://purl.bioontology.org/ontology/OMIM/608224
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL DOMINANT 41 |
| Synonyms |
DFNA41
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNA41
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL DOMINANT 41
|
| Gene Symbol |
P2X2
P2RX2
DFNA41
|
| Scope Statement | Hearing loss is usually severe by age 20 years [MISCELLANEOUS]
Caused by mutation in the purinergic receptor P2X, ligand-gated ion channel, 2 gene (P2RX2, 600844.0001) [MOLECULAR BASIS]
Onset in second decade, but sometimes earlier [MISCELLANEOUS]
Noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 Hz) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 12q24.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 608224
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1842371
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |