RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
autosomal recessive thrombophilia due to protein S deficiency
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. (DO)
Synonyms:
exact_synonym:
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive; THPH6; autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency
broad_synonym:
HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY; PROS1-RELATED CONDITION; reduced protein S activity