OBO ID: DOID:0050658
Term Name: Bart-Pumphrey syndrome Search Ontology:
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 )
OTHER Bart-Pumphrey syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJB2 Bart-Pumphrey syndrome 149200
GJB6 Bart-Pumphrey syndrome 149200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None