RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
ANO6-RELATED CONDITION; 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