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DO Term : autosomal dominant thrombophilia due to protein S deficiency [DOID:0111900] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 612336,
  • THPH5,
  • OMIM:612336,
  • UMLS_CUI:C3278211
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Disease

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Ontology

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Ontology Term --> Direct parents





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