Send us a Message



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

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:Familial Hyperbeta- and Prebetalipoproteinemia
go back to main search page
Accession:DOID:9002208 term browser browse the term
Synonyms:primary_id: MESH:C566262;   RDO:0014664
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Familial Hyperbeta- and Prebetalipoproteinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IAGP ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    Nutritional and Metabolic Diseases 7407
      disease of metabolism 7407
        lipid metabolism disorder 1155
          familial hyperlipidemia 269
            Hyperlipoproteinemias 76
              Hyperlipoproteinemia Type II 63
                Familial Hyperbeta- and Prebetalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 22115
    Developmental Disease 16640
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14376
        genetic disease 13728
          inherited metabolic disorder 4956
            lipid metabolism disorder 1155
              Dyslipidemias 299
                familial hyperlipidemia 269
                  Hyperlipoproteinemias 76
                    Hyperlipoproteinemia Type II 63
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
paths to the root