has material basis in germline mutation in ANO6 inherited bleeding disorder, platelet-type Scott syndrome https://github.com/monarch-initiative/mondo/issues/9994 https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome https://www.malacards.org/card/scott_syndrome icd11.foundation:186013982 SCTID:128098009 UMLS:C0796149 GARD:0004777 prothrombin consumption deficiency DOID:0111052 NANDO:2200671 Scott syndrome Platelet factor X receptor deficiency BDPLT7 MESH:C563120 MEDGEN:167107 A blood coagulation disorder caused by a variant in the ANO6 gene, characterized by impaired externalization of phosphatidylserine on activated platelets, resulting in a reduced procoagulant platelet surface, diminished thrombin generation, and mucocutaneous bleeding. Platelet counts and morphology are generally normal, but affected individuals show markedly reduced platelet procoagulant activity with defective membrane scrambling in response to calcium‑dependent stimuli. Orphanet:806 SCTS OMIM:262890 MONDO:0009885 inherited blood coagulation disorder