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Disease Ontology Browser
Bart-Pumphrey syndrome (DOID:0050658)
Alliance: disease page
Synonyms: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
Alt IDs: OMIM:149200
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory