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DO Term : Bart-Pumphrey syndrome [DOID:0050658] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 149200,
  • KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS,
  • OMIM:149200
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents