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:Broad-Betalipoproteinemia
go back to main search page
Accession:DOID:9004769 term browser browse the term
Synonyms:exact_synonym: broad beta disease;   broad-beta hyperlipoproteinemia
 primary_id: MESH:C566264



show annotations for term's descendants           Sort by:
Broad-Betalipoproteinemia 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: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        lipid metabolism disorder 1546
          Apolipoprotein E, Deficiency or Defect of 5
            hyperlipoproteinemia type III 5
              Broad-Betalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          inherited metabolic disorder 5434
            lipid metabolism disorder 1546
              Dyslipidemias 277
                familial hyperlipidemia 247
                  Hyperlipoproteinemias 66
                    hyperlipoproteinemia type III 5
                      Broad-Betalipoproteinemia 1
paths to the root