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Summary Literature (0)
DOID:0050658 - Bart-Pumphrey syndrome

Disease Ontology 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.

Synonyms: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS

Xenbase Genes : gjb2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007866 - Bart-Pumphrey syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)