autosomal dominant thrombophilia due to protein S deficiency

Term ID

DOID:0111900

Synonyms

• 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

• OMIM:612336
• UMLS_CUI:C3278211

Ontology

Human Disease   ( DOID:0111900 )