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Human Disease

autosomal recessive thrombophilia due to protein C deficiency

Term ID
DOID:0111904
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 the PROC gene on chromosome 2q14.3. (2)
References
Ontology
Human Disease   ( DOID:0111904 )
Relationships
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Genes Involved
Zebrafish Models