OBO ID: DOID:0111904
Term Name: autosomal recessive thrombophilia due to protein C deficiency Search Ontology:
Synonyms:
  • autosomal recessive PROC deficiency
  • autosomal recessive protein C deficiency
  • THPH4
Definition: 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 PROC on chromosome 2q14.3. (2)
References:
Ontology: Human Disease   (DOID:0111904)
OTHER autosomal recessive thrombophilia due to protein C deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PROC Thrombophilia 3 due to protein C deficiency, autosomal recessive 612304
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None