Bart-Pumphrey Syndrome
Disease ID: disease_node_20167
Connections displayed (default: 10).
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| Dbxref | MIM:149200 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS |
| Doid Label | Bart-Pumphrey syndrome |
| Doid Description | A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20167 |
| Doid Id | DOID_0050658 |
| Label | Bart-Pumphrey Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)