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Metadata
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

ICD10CM:H90.3

OMIM:607101

ORDO:90636

Subsets

DO_rare_slim

Synonyms

autosomal recessive deafness 30 [EXACT]

DFNB30 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

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