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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 A-II DEFICIENCY
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Accession:DOID:9006700 term browser browse the term
Synonyms:primary_id: OMIM:107670


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APOLIPOPROTEIN A-II DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Apolipoprotein A-II deficiency ClinVar PMID:25741868 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        lipid metabolism disorder 1570
          APOLIPOPROTEIN A-II DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          inherited metabolic disorder 5525
            lipid metabolism disorder 1570
              APOLIPOPROTEIN A-II DEFICIENCY 1
paths to the root