autosomal recessive thrombophilia due to protein S deficiency (DOID:0111905)
Alliance: disease page
Synonyms: autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency; THPH6
Alt IDs: OMIM:614514, ORDO:743, UMLS_CUI:C3281092
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.