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DOID:0111052 - Scott syndrome
Disease Ontology 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.
Synonyms: BDPLT7, SCTS, 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,
Xenbase Genes
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ano6
| MONDO:0009885 - Scott syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
blood coagulation disease (is_a)