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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:hyperlipoproteinemia type III
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Accession:DOID:3145 term browser browse the term
Definition:A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d;   Dysbetalipoproteinemia;   FLOATING-BETALIPOPROTEINEMIA;   Familial Dysbetalipoproteinemia;   apolipoprotein E, deficiency or defect of;   carbohydrate induced hyperlipemia;   familial hypercholesterolaemia with hyperlipaemia;   familial hypercholesterolemia with hyperlipemia;   familial type 3 hyperlipoproteinemia;   hyperlipoproteinemias type III;   remnant hyperlipidemia
 narrow_synonym: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON);   hyperlipoproteinemias type III, due to APOE2
 related_synonym: APOE2 isoforms;   APOE3(-)-KOCHI;   APOE3-WASHINGTON;   APOE5 VARIANT;   CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO
 primary_id: MESH:D006952
 alt_id: OMIM:617347
 xref: NCI:C34710
For additional species annotation, visit the Alliance of Genome Resources.



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hyperlipoproteinemia type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16143024 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G APOC3 apolipoprotein C3 IAGP RGD PMID:2879788 RGD:1578447 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E IEA
IAGP
EXP
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia
ClinVar Annotator: match by term: Floating-betalipoproteinemia
ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to
ClinVar Annotator: match by term: APOE5 VARIANT
ClinVar Annotator: match by term: BROAD-BETALIPOPROTEINEMIA
DNA:missense mutation:cds:p.R158C (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
OMIM
ClinVar
CTD
RGD
PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 More... RGD:1331525, RGD:14401584, RGD:12880367 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G LDLR low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia ClinVar PMID:20809525 PMID:25741868 PMID:28492532 PMID:28645073 PMID:33740630 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
JBrowse link
Broad-Betalipoproteinemia 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: Broad beta disease
ClinVar Annotator: match by term: Broad-betalipoproteinemia
ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
Floating-Betalipoproteinemia 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: Floating-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 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: Hyperlipemia with familial hypercholesterolemic xanthomatosis ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 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 40716
    Nutritional and Metabolic Diseases 10541
      disease of metabolism 10541
        lipid metabolism disorder 1823
          Apolipoprotein E, Deficiency or Defect of 4
            hyperlipoproteinemia type III 4
              Broad-Betalipoproteinemia 1
              Floating-Betalipoproteinemia 1
              Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
Path 2
Term Annotations click to browse term
  disease 40716
    Developmental Disease 36022
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33164
        genetic disease 32747
          inherited metabolic disorder 7841
            lipid metabolism disorder 1823
              Dyslipidemias 368
                familial hyperlipidemia 331
                  Hyperlipoproteinemias 86
                    hyperlipoproteinemia type III 4
                      Broad-Betalipoproteinemia 1
                      Floating-Betalipoproteinemia 1
                      Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
paths to the root