autosomal recessive thrombophilia due to protein S deficiency

Term ID

DOID:0111905

Synonyms

• autosomal recessive thrombophilia due to congenital protein S deficiency
• severe hereditary thrombophilia due to congenital protein S deficiency
• THPH6

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. (2)

References

• OMIM:614514
• ORDO:743
• UMLS_CUI:C3281092

Ontology

Human Disease   ( DOID:0111905 )