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Metadata
ID	DOID:0111900
Name	autosomal dominant thrombophilia due to protein S deficiency
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. https://pubmed.ncbi.nlm.nih.gov/6239102/, https://pubmed.ncbi.nlm.nih.gov/7545463/, https://pubmed.ncbi.nlm.nih.gov/7780139/
Xrefs	OMIM:612336 UMLS_CUI:C3278211
Synonyms	THPH5 [EXACT]
Parent Relationships	is_a protein S deficiency is_a autosomal dominant disease