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RGD uses the Human Disease Ontology (DO, 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.

Term:Scott syndrome
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Accession:DOID:0111052 term browser browse the term
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. (DO)
Synonyms:exact_synonym: 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
 primary_id: MESH:C563120
 alt_id: OMIA:001353;   OMIM:262890
 xref: EFO:0000204;   GARD:4777;   MONDO:0009885;   ORDO:806

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Scott syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano6 anoctamin 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCOTT SYNDROME
PMID:7989579 PMID:16199547 PMID:21107324 PMID:21511967 PMID:25741868 More... NCBI chr 7:126,933,919...127,113,588
Ensembl chr 7:126,933,936...127,113,589
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Scott syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      Hemic and Lymphatic Diseases 3833
        hematopoietic system disease 3324
          blood coagulation disease 946
            Inherited Blood Coagulation Disease 207
              Scott syndrome 1
paths to the root