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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 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 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          monogenic disease 7230
            autosomal genetic disease 6357
              autosomal dominant disease 4483
                apolipoprotein C-III deficiency 1
                  ApoA-I and ApoC-III Deficiency, Combined 0
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          inherited metabolic disorder 2663
            lipid metabolism disorder 1029
              Dyslipidemias 334
                familial hyperlipidemia 308
                  Hyperlipoproteinemias 68
                    cholesterol-ester transfer protein deficiency 1
                      apolipoprotein C-III deficiency 1
                        ApoA-I and ApoC-III Deficiency, Combined 0
paths to the root