Terminology Service for NFDI4Health
Bart-Pumphrey syndrome
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http://purl.obolibrary.org/obo/DOID_0050658
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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]
Term info
Label
Bart-Pumphrey syndrome
Synonyms
- KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:0050658