Metadata | |
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ID | DOID:0110567 |
Name | autosomal dominant nonsyndromic 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. https://www.ncbi.nlm.nih.gov/pubmed/24211385, https://www.omim.org/entry/608224 |
Xrefs | |
Synonyms |
autosomal dominant deafness 41 [EXACT] DFNA41 [EXACT] |
Parent Relationships |