| 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 | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |