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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:cholesterol-ester transfer protein deficiency
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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:2022742 PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 More... NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        lipid metabolism disorder 1146
          familial hyperlipidemia 310
            Hyperlipoproteinemias 68
              cholesterol-ester transfer protein deficiency 1
                apolipoprotein C-III deficiency + 1
                hyperalphalipoproteinemia 1 0
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            lipid metabolism disorder 1146
              Dyslipidemias 338
                familial hyperlipidemia 310
                  Hyperlipoproteinemias 68
                    cholesterol-ester transfer protein deficiency 1
                      apolipoprotein C-III deficiency + 1
                      hyperalphalipoproteinemia 1 0
paths to the root