Term Name: | autosomal dominant congenital deafness with onychodystrophy |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080720] ( DOID:0080720 ) |