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Metadata
ID DOID:0080720
Name autosomal dominant congenital deafness with onychodystrophy
Definition A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.
https://pubmed.ncbi.nlm.nih.gov/28396750/
Xrefs

GARD:4732

OMIM:124480

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

is_a physical disorder

is_a autosomal dominant disease

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