autosomal recessive thrombophilia due to protein C deficiency (DOID:0111904)
Alliance: disease page
Synonyms: autosomal recessive PROC deficiency; autosomal recessive protein C deficiency; THPH4
Alt IDs: OMIM:612304, MESH:C567353, UMLS_CUI:C2676759
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.