Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:HYPERTRIGLYCERIDEMIA 1
go back to main search page
Accession:DOID:9000810 term browser browse the term
Synonyms:exact_synonym: Familial Hypertriglyceridemia;   HYPERTRIGLYCERIDEMIA, FAMILIAL;   HYTG1
 broad_synonym: APOA5-RELATED CONDITION
 primary_id: MIM:145750


show annotations for term's descendants           Sort by:
HYPERTRIGLYCERIDEMIA 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO ClinVar Annotator: match by term: APOA5-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia 1 | ClinVar Annotator: match by term: Hypertriglyceridemia, familial ClinVar
OMIM		 PMID:9536098 PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 More... NCBI chr 8:55,446,329...55,460,509
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:21666694 PMID:25741868 PMID:26046366 PMID:28492532 PMID:31619059 More... NCBI chr 7:9,273,320...9,281,755
Ensembl chr 7:8,622,614...8,631,048 		JBrowse link
G Lipi lipase I ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12719377 PMID:25741868 PMID:28492532 NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12764676 PMID:20664799 PMID:25741868 PMID:28492532 NCBI chr 5:19,918,728...20,380,811
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:25741868 NCBI chr 8:55,461,839...55,471,413
Ensembl chr 8:46,565,146...46,574,719 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    Nutritional and Metabolic Diseases 8548
      disease of metabolism 8548
        lipid metabolism disorder 1909
          familial hyperlipidemia 387
            Hypertriglyceridemia 127
              HYPERTRIGLYCERIDEMIA 1 5
Path 2
Term Annotations click to browse term
  disease 19142
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13716
        genetic disease 13381
          inherited metabolic disorder 6626
            lipid metabolism disorder 1909
              Dyslipidemias 419
                familial hyperlipidemia 387
                  Hypertriglyceridemia 127
                    HYPERTRIGLYCERIDEMIA 1 5
paths to the root