Term Name: | autosomal recessive thrombophilia due to protein C deficiency |
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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 ) |