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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: platelet-type bleeding disorder 7, prothrombin consumption deficiency, SCTS, BDPLT7, familial prothrombin conversion defect, bleeding abnormality due to deficiency of platelet biding of factor X, familial prothrombin consumption inhibitor
Xenbase Genes
:
ano6
| MONDO:0009885 - interlobar artery |
| MIM:262890 - SCOTT SYNDROME; SCTS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
blood coagulation disease (is_a)