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Disease Ontology Browser
Scott syndrome (DOID:0111052)
Alliance: disease page
Synonyms: BDPLT7; bleeding abnormality due to deficiency of platelet biding of factor X; familial prothrombin consumption inhibitor; familial prothrombin conversion defect; platelet-type bleeding disorder 7; prothrombin consumption deficiency; SCTS
Alt IDs: OMIM:262890, MESH:C563120, ORDO:806, UMLS_CUI:C0796149
Definition: A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory