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autosomal dominant nonsyndromic deafness 41
Summary
- Synonym
-
- DFNA41
- autosomal dominant deafness 41
- 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.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0110567
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBL9 | P2X purinoceptor 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8K3P1 | P2X purinoceptor 2 |
