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Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory