Metadata | |
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ID | DOID:0110489 |
Name | autosomal recessive nonsyndromic deafness 30 |
Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/12032315 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive deafness 30 [EXACT] DFNB30 [EXACT] |
Parent Relationships |