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Metadata
ID DOID:0110509
Name autosomal recessive nonsyndromic deafness 53
Definition An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.
https://www.ncbi.nlm.nih.gov/pubmed/16033917
Xrefs

ICD10CM:H90.3

OMIM:609706

Synonyms

autosomal recessive deafness 53 [EXACT]

DFNB53 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

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