Term Name: autosomal recessive thrombophilia due to protein C deficiency
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.
Ontology: Human Disease [DOID:0111904]   ( DOID:0111904 )

Relationships
is a type of: autosomal recessive disease protein C deficiency