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Human Disease

autosomal dominant thrombophilia due to protein C deficiency

Term ID
DOID:0111909
Synonyms
  • autosomal dominant PROC deficiency
  • autosomal dominant protein C deficiency
  • THPH3
Definition
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. (3)
References
Ontology
Human Disease   ( DOID:0111909 )
Relationships
is a type of
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Genes Involved
Zebrafish Models