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DO Term : autosomal dominant thrombophilia due to protein C deficiency [DOID:0111909] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3.
  • synonyms:
  • autosomal dominant PROC deficiency,
  • THPH3,
  • MESH:C567163,
  • 176860,
  • OMIM:176860,
  • autosomal dominant protein C deficiency,
  • UMLS_CUI:C2674321
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Ontology Term --> Direct children

Ontology Term --> Direct parents