Visualize Submit Comment

Metadata
ID	DOID:0111638
Name	autosomal recessive nonsyndromic deafness 100
Definition	An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. https://www.ncbi.nlm.nih.gov/pubmed/29590114
Xrefs	MIM:618422
Synonyms	autosomal recessive deafness 100 [EXACT] DFNB100 [EXACT]
Parent Relationships	is_a autosomal recessive nonsyndromic deafness