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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
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Accession:DOID:0090019 term browser browse the term
Definition:An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. (DO)
Synonyms:exact_synonym: STSL;   phytosterolemia;   plant sterol storage disease;   pseudohomozygous familial hypercholesterolemia
 primary_id: MESH:C537345
 xref: GARD:7653;   NCI:C125694;   OMIM:PS210250;   ORDO:2882
For additional species annotation, visit the Alliance of Genome Resources.



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sitosterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 susceptibility IAGP
ISO
DNA:missense mutation: p.G583C , 1757G>T (rat)
ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:11099417 PMID:11138003 PMID:11668628 PMID:11893785 More... RGD:1598659, RGD:631968 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11264985 More... RGD:1300331, RGD:631968 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:9536098 PMID:11138003 PMID:11668628 PMID:11907139 PMID:15054092 More... NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
JBrowse link
Sitosterolemia 1 term browser
Symbol Object Name Qualifiers 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: Sitosterolemia 1 ClinVar PMID:11668628 PMID:11893785 PMID:17228349 PMID:17632509 PMID:17976197 More... NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Sitosterolemia 1 OMIM
ClinVar
PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11264985 More... NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628 PMID:17228349 PMID:17976197 PMID:19111681 PMID:20521169 More... NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
JBrowse link
Sitosterolemia 2 term browser
Symbol Object Name Qualifiers 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: Sitosterolemia 2 OMIM
ClinVar
PMID:11099417 PMID:11138003 PMID:11907139 PMID:15054092 PMID:15375183 More... NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia 2 ClinVar PMID:11099417 PMID:11138003 PMID:11907139 PMID:15054092 PMID:15375183 More... NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      gastrointestinal system disease 6629
        intestinal disease 2979
          sitosterolemia 3
            Sitosterolemia 1 3
            Sitosterolemia 2 2
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11805
        genetic disease 11316
          inherited metabolic disorder 4685
            lipid metabolism disorder 1177
              Dyslipidemias 340
                familial hyperlipidemia 311
                  Hypercholesterolemia 178
                    sitosterolemia 3
                      Sitosterolemia 1 3
                      Sitosterolemia 2 2
paths to the root