Search Ontology:
Human Disease

Bart-Pumphrey syndrome

Term ID
DOID:0050658
Synonyms
  • KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
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
References
Ontology
Human Disease   ( DOID:0050658 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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