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Metadata
ID DOID:0110577
Name autosomal dominant nonsyndromic deafness 51
Definition An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.
https://www.ncbi.nlm.nih.gov/pubmed/20602916
Xrefs

ICD10CM:H90.3

OMIM:613558

Synonyms

autosomal dominant deafness 51 [EXACT]

chromosome 9q21.11 duplication syndrome [EXACT]

DFNA51 [EXACT]

Parent Relationships

is_a chromosomal duplication syndrome

is_a autosomal dominant nonsyndromic deafness

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