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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



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2
OMIM
CTD
ClinVar
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:1901417 PMID:2108924 PMID:2123470 PMID:2506176 PMID:2512329 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 21142
    Nutritional and Metabolic Diseases 8229
      disease of metabolism 8229
        lipid metabolism disorder 1727
          familial hyperlipidemia 362
            Hyperlipoproteinemias 71
              cholesterol-ester transfer protein deficiency 3
                apolipoprotein C-III deficiency + 3
                hyperalphalipoproteinemia 1 0
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
                    cholesterol-ester transfer protein deficiency 3
                      apolipoprotein C-III deficiency + 3
                      hyperalphalipoproteinemia 1 0
paths to the root