Search Ontology:
Human Disease
Bart-Pumphrey syndrome
- Term ID
- DOID:0050658
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models