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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


show annotations for term's descendants           Sort by:
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 ISO DNA:missense mutation: p.G583C , 1757G>T (rat)
ClinVar Annotator: match by term: Sitosterolemia		 RGD
ClinVar		 PMID:9536098 PMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 More... RGD:1598659 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: Sitosterolemia ClinVar PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11264985 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 ClinVar PMID:9536098 PMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 More... NCBI chr10:46,231,433...46,270,102
Ensembl chr10:46,231,460...46,290,382 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:28492532 NCBI chr10:46,325,312...46,438,376
Ensembl chr10:46,327,223...46,438,342 		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: 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
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: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 OMIM
ClinVar		 PMID:11099417 PMID:11138003 PMID:11668628 PMID:11893785 PMID:11907139 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: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 ClinVar PMID:11893785 PMID:17632509 PMID:21039838 PMID:21274884 PMID:22898925 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: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 ClinVar PMID:11099417 PMID:11138003 PMID:11668628 PMID:11907139 PMID:15054092 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 15603
    disease of anatomical entity 15198
      gastrointestinal system disease 6548
        intestinal disease 2956
          sitosterolemia 4
            Sitosterolemia 1 3
            Sitosterolemia 2 3
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Disease 13486
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12518
        genetic disease 12169
          inherited metabolic disorder 5594
            lipid metabolism disorder 1590
              Dyslipidemias 283
                familial hyperlipidemia 253
                  Hypercholesterolemia 116
                    sitosterolemia 4
                      Sitosterolemia 1 3
                      Sitosterolemia 2 3
paths to the root