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 ISO ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        lipid metabolism disorder 1149
          familial hyperlipidemia 311
            Hyperlipoproteinemias 68
              Hyperlipoproteinemia Type II 62
                Familial Hyperbeta- and Prebetalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            lipid metabolism disorder 1149
              Dyslipidemias 339
                familial hyperlipidemia 311
                  Hyperlipoproteinemias 68
                    Hyperlipoproteinemia Type II 62
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
paths to the root