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autosomal recessive thrombophilia due to protein S deficiency
Summary
- Synonym
-
- THPH6
- autosomal recessive thrombophilia due to congenital protein S deficiency
- severe hereditary thrombophilia due to congenital protein S deficiency
- 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.
- Super Class
- autosomal recessive disease protein S deficiency
External Links
- Disease Ontology
- DOID:0111905
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
