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| Term | autosomal recessive thrombophilia due to protein S deficiency | ID (Ontology) | DOID:0111905 (Human Disease) |
| Definition | A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. | ||
| Also Known As | "autosomal recessive thrombophilia due to congenital protein S deficiency" ; "severe hereditary thrombophilia due to congenital protein S deficiency" ; "THPH6" | ||
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autosomal genetic disease |__autosomal recessive disease__ thrombophilia | |__protein S deficiency_________| autosomal recessive thrombophilia due to protein S deficiency |
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autosomal recessive disease protein S deficiency |
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MIM:614514 ORDO:743 UMLS_CUI:C3281092 |
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