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DO Term : autosomal recessive thrombophilia due to protein C deficiency [DOID:0111904] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3.
  • synonyms:
  • UMLS_CUI:C2676759,
  • autosomal recessive protein C deficiency,
  • 612304,
  • OMIM:612304,
  • THPH4,
  • autosomal recessive PROC deficiency,
  • MESH:C567353
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Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents