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DO Term : Bothnian type palmoplantar keratoderma [DOID:0111707] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.
  • synonyms:
  • diffuse palmoplantar keratoderma, Bothnian type,
  • GARD:1862,
  • UMLS_CUI:C1838359,
  • OMIM:600231,
  • PPKB,
  • ORDO:2337,
  • 600231,
  • MESH:C536173
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents