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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,
  • UMLS_CUI:C3278211,
  • OMIM:612336,
  • THPH5
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents