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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:apolipoprotein C-III deficiency
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Accession:DOID:0111370 term browser browse the term
Definition:A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in APOC3 on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: HALP2;   hyperalphalipoproteinemia 2
 primary_id: MESH:C566270
 alt_id: OMIM:614028
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 OMIM:614028
ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2
OMIM
ClinVar
PMID:2022742 PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 PMID:28406212 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                apolipoprotein C-III deficiency 1
                  ApoA-I and ApoC-III Deficiency, Combined 0
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            lipid metabolism disorder 906
              Dyslipidemias 288
                familial hyperlipidemia 264
                  Hyperlipoproteinemias 34
                    cholesterol-ester transfer protein deficiency 1
                      apolipoprotein C-III deficiency 1
                        ApoA-I and ApoC-III Deficiency, Combined 0
paths to the root