DOID:0111904 - autosomal recessive thrombophilia due to protein C deficiency
Disease Ontology 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 PROC on chromosome 2q14.3.
Synonyms: THPH4, autosomal recessive PROC deficiency, autosomal recessive protein C deficiency
|OMIM:612304 - THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : proc, proc.2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD