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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:Sitosterolemia 1
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Accession:DOID:9002547 term browser browse the term
Synonyms:exact_synonym: STSL1
 narrow_synonym: Mediterranean macrothrombocytopenia-stomatocytosis;   Mediterranean phytosterolemia macrothrombocytopenia/stomatocytosis
 broad_synonym: ABCG8-RELATED CONDITION
 primary_id: MIM:210250


show annotations for term's descendants           Sort by:
Sitosterolemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11138003 PMID:11668628 PMID:11893785 PMID:16029460 PMID:17228349 More... NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1 OMIM
ClinVar		 PMID:3706300 PMID:4360855 PMID:6110091 PMID:9536098 PMID:11099417 More... NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11138003 PMID:11668628 PMID:16029460 PMID:17228349 PMID:17976197 More... NCBI chr10:46,231,433...46,270,102
Ensembl chr10:46,231,460...46,290,382 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15674
    disease of anatomical entity 15314
      gastrointestinal system disease 6620
        intestinal disease 2977
          sitosterolemia 4
            Sitosterolemia 1 3
Path 2
Term Annotations click to browse term
  disease 15674
    Developmental Disease 13617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12661
        genetic disease 12356
          inherited metabolic disorder 5923
            lipid metabolism disorder 1741
              Dyslipidemias 303
                familial hyperlipidemia 274
                  Hypercholesterolemia 137
                    sitosterolemia 4
                      Sitosterolemia 1 3
paths to the root