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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

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: GARD:4777;   ORDO:806
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by null OMIM
ClinVar
PMID:7989579, PMID:21107324 NCBI chr 7:137,142,063...137,335,208
Ensembl chr 7:137,142,170...137,335,208
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Scott syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          blood coagulation disease 624
            Inherited Blood Coagulation Disease 101
              Scott syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.