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About: autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
described by
id
  • DOID:0112013
database_cross_reference
  • OMIM:614594
has_exact_synonym
  • OLMS1
  • Olmsted syndrome 1
  • autosomal dominant Olmsted syndrome
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2.
is topic of
is annotatedSource of
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