autosomal dominant thrombophilia due to protein S deficiency Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant thrombophilia due to protein S deficiency (DOID:0111900)
Alliance: disease page
Synonyms: THPH5
Alt IDs: OMIM:612336, UMLS_CUI:C3278211
Definition: A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1.

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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