Autosomal Domit Congenital Deafness With Onychodystrophy
Disease ID: disease_node_20102
Connections displayed (default: 10).
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| Dbxref | GARD:4732, MIM:124480 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080015, DOID_225 |
| Data Source | DOID |
| Doid Label | autosomal domit congenital deafness with onychodystrophy |
| Doid Description | A syndrome that is characterized by autosomal domit inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20102 |
| Doid Id | DOID_0080720 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Domit Congenital Deafness With Onychodystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease)