Term Name: | autosomal recessive thrombophilia due to protein S deficiency |
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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. |
Ontology: | Human Disease [DOID:0111905] ( DOID:0111905 ) |