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Metadata
ID DOID:0110541
Name autosomal dominant nonsyndromic deafness 1
Definition An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.
https://www.ncbi.nlm.nih.gov/pubmed/9360932
Xrefs

ICD10CM:H90.3

OMIM:124900

Synonyms

autosomal dominant deafness 1 [EXACT]

autosomal dominant deafness 1, with or without thrombocytopenia [EXACT]

DFNA1 [EXACT]

hereditary low frequency hearing loss 1 [EXACT]

Konigsmark syndrome [EXACT]

LFHL1 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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