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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
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 101730278 | p2rx2 | purinergic receptor P2X, ligand gated ion channel, 2 | Xenopus tropicalis (tropical clawed frog) | |
| 108715297 | p2rx2.L | purinergic receptor P2X, ligand gated ion channel, 2 L homeolog | Xenopus laevis (African clawed frog) |
