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DO Term : mal de Meleda [DOID:0060862] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.
  • synonyms:
  • 248300,
  • UMLS_CUI:C4273986,
  • transgrediens palmoplantar keratoderma of Siemens,
  • MDM,
  • PPKGN,
  • palmoplantar keratoderma, Norrbotten type,
  • Meleda disease,
  • UMLS_CUI:C1855644,
  • ORDO:86923,
  • palmoplantar keratoderma, Gamborg-Nielsen type,
  • OMIM:248300,
  • MESH:C565454,
  • PPKNR,
  • GARD:92,
  • ORDO:87503,
  • ICD10CM:Q82.8,
  • PPK, Gamborg-Nielsen type,
  • keratosis palmoplantaris transgrediens of Siemens
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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