Metadata | |
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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 | |
Synonyms |
THPH5 [EXACT] |
Parent Relationships |
is_a protein S deficiency |