Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:sitosterolemia
go back to main search page
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: Mediterranean macrothrombocytopenia-stomatocytosis;   Phytosterolemia;   Plant sterol storage disease;   Pseudohomozygous familial hypercholesterolemia;   STSL
 narrow_synonym: PHYTOSTEROLEMIA MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN
 primary_id: MESH:C537345
 alt_id: OMIM:210250;   RDO:0003173
 xref: GARD:7653;   NCI:C125694;   ORDO:2882
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
sitosterolemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:7240710
RGD:8554872
RGD:11554173
RGD:631968
G Abcg8 ATP binding cassette subfamily G member 8 JBrowse link 6 7,961,413 7,980,708 RGD:1300331
RGD:8554872
RGD:11554173
RGD:631968
RGD:7240710
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      gastrointestinal system disease 4373
        intestinal disease 1386
          sitosterolemia 3
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            lipid metabolism disorder 734
              Dyslipidemias 281
                familial hyperlipidemia 259
                  Hypercholesterolemia 136
                    sitosterolemia 3
paths to the root

NHLBI Logo

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