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

• MESH:C567353
• OMIM:612304
• UMLS_CUI:C2676759

Ontology

Human Disease   ( DOID:0111904 )