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Human Disease
autosomal dominant nonsyndromic deafness 41
- Term ID
- DOID:0110567
- Synonyms
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- autosomal dominant deafness 41
- DFNA41
- Definition
- An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. (2)
- References
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- ICD10CM:H90.3
- MIM:608224
- Ontology
- Human Disease ( DOID:0110567 )
- is a type of
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