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   new 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:cholesterol-ester transfer protein deficiency
go back to main search page
Accession:DOID:0111368 term browser browse the term
Definition:A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. (DO)
Synonyms:exact_synonym: CEPT deficiency;   CETP deficiency;   Cholesteryl Ester Transfer Protein Deficiency;   familial hyperalphalipoproteinemia;   hyperalphalipoproteinemia
 primary_id: MESH:C564591
 xref: ORDO:79506


show annotations for term's descendants           Sort by:
apolipoprotein C-III deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2022742 PMID:11060345 PMID:19074352 PMID:20097930 PMID:23701270 More... NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
primary hypoalphalipoproteinemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        lipid metabolism disorder 1895
          familial hyperlipidemia 385
            Hyperlipoproteinemias 95
              cholesterol-ester transfer protein deficiency 3
                apolipoprotein C-III deficiency + 3
                hyperalphalipoproteinemia 1 0
Path 2
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13629
        genetic disease 13304
          inherited metabolic disorder 6608
            lipid metabolism disorder 1895
              Dyslipidemias 418
                familial hyperlipidemia 385
                  Hyperlipoproteinemias 95
                    cholesterol-ester transfer protein deficiency 3
                      apolipoprotein C-III deficiency + 3
                      hyperalphalipoproteinemia 1 0
paths to the root