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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:familial apolipoprotein A5 deficiency
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Accession:DOID:0111421 term browser browse the term
Definition:A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in APOA5 on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: familial APOA5 deficiency;   familial apolipoprotein A-V deficiency
 primary_id: OMIM:144650
 xref: ORDO:530849
For additional species annotation, visit the Alliance of Genome Resources.


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familial apolipoprotein A5 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO OMIM NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        lipid metabolism disorder 908
          familial hyperlipidemia 268
            familial chylomicronemia syndrome 5
              familial apolipoprotein A5 deficiency 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            lipid metabolism disorder 908
              Dyslipidemias 292
                familial hyperlipidemia 268
                  familial chylomicronemia syndrome 5
                    familial apolipoprotein A5 deficiency 1
paths to the root