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DO Term : palmoplantar keratoderma and congenital alopecia 1 [DOID:0111244] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • PPKCA1,
  • keratoderma-hypotrichosis-leukonychia totalis syndrome,
  • 104100,
  • PPK-CA, Stevanovic type,
  • PPKCA Stevanovic type,
  • GARD:604,
  • OMIM:104100,
  • palmoplantar keratoderma and congenital alopecia, Stevanovic type,
  • autosomal dominant palmoplantar hyperkeratosis and congenital alopecia,
  • UMLS_CUI:C1863093,
  • ORDO:1010,
  • autosomal dominant palmoplantar keratoderma and congenital alopecia,
  • MESH:C537050
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