Search Ontology:
Human Disease
autosomal dominant thrombophilia due to protein S deficiency
- Term ID
- DOID:0111900
- Synonyms
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- THPH5
- 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. (3)
- References
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- MIM:612336
- UMLS_CUI:C3278211
- Ontology
- Human Disease ( DOID:0111900 )
- is a type of
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Genes Involved
Zebrafish Models