OBO ID: DOID:0050658 |
Term Name: | Bart-Pumphrey syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0050658 ) |
OTHER Bart-Pumphrey syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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