| Metadata | |
|---|---|
| ID | DOID:0050658 |
| Name | Bart-Pumphrey syndrome |
| Definition | 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. https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome |
| Xrefs | |
| Synonyms |
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |