Human genes for autosomal recessive thrombophilia due to protein C deficiency
Autosomal recessive thrombophilia due to protein C deficiency [DOID:0111904]
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.
Synonyms: autosomal recessive thrombophilia due to protein C deficiency, autosomal recessive thrombophilia due to protein C deficiencies, DOID:0111904, autosomal recessive PROC deficiency, autosomal recessive protein C deficiency ...