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 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 21142
    Nutritional and Metabolic Diseases 8229
      disease of metabolism 8229
        lipid metabolism disorder 1727
          Apolipoprotein E, Deficiency or Defect of 4
            hyperlipoproteinemia type III 4
              Broad-Betalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 21142
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          inherited metabolic disorder 6205
            lipid metabolism disorder 1727
              Dyslipidemias 395
                familial hyperlipidemia 362
                  Hyperlipoproteinemias 71
                    hyperlipoproteinemia type III 4
                      Broad-Betalipoproteinemia 1
paths to the root