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About: palmoplantar keratoderma and congenital alopecia 1     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • palmoplantar keratoderma and congenital alopecia 1
described by
id
  • DOID:0111244
database_cross_reference
  • GARD:604
  • MESH:C537050
  • OMIM:104100
  • ORDO:1010
  • UMLS_CUI:C1863093
has_exact_synonym
  • autosomal dominant palmoplantar hyperkeratosis and congenital alopecia (en)
  • PPK-CA, Stevanovic type (en)
  • PPKCA Stevanovic type (en)
  • PPKCA1 (en)
  • autosomal dominant palmoplantar keratoderma and congenital alopecia (en)
  • palmoplantar keratoderma and congenital alopecia, Stevanovic type (en)
  • keratoderma-hypotrichosis-leukonychia totalis syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
is topic of
is annotatedSource of
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