Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a syndrome is_a physical disorder |