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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • mal de Meleda (en)
described by
id
  • DOID:0060862
database_cross_reference
  • ICD10CM:Q82.8
  • OMIM:248300
  • ORDO:87503
has_exact_synonym
  • Meleda disease (en)
  • keratosis palmoplantaris transgrediens of Siemens (en)
  • transgrediens palmoplantar keratoderma of Siemens (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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