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Metadata
ID DOID:0070602
Name autosomal dominant nonsyndromic deafness 80
Definition An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11.
https://pubmed.ncbi.nlm.nih.gov/29955957/, https://pubmed.ncbi.nlm.nih.gov/32585897/
Xrefs

MIM:619274

SKOS

exactMatch MIM:619274

Synonyms

autosomal dominant deafness 80 [EXACT]

DFNA80 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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