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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 C-II deficiency
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Accession:DOID:0111418 term browser browse the term
Definition:A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. (DO)
Synonyms:exact_synonym: APOC2 DEFICIENCY;   Apolipoprotein C II Deficiency;   Apolipoprotein C-II Deficiencies;   Hyperlipoproteinemia Type Ib;   Type Ib Hyperlipoproteinemias;   familial APOC2 deficiency;   familial apoC-II deficiency;   hyperlipoproteinemia, type 1b
 primary_id: OMIM:207750
 xref: ORDO:309020


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Nutritional and Metabolic Diseases 7183
      disease of metabolism 7183
        lipid metabolism disorder 1570
          familial hyperlipidemia 250
            familial chylomicronemia syndrome 5
              familial apolipoprotein C-II deficiency 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          inherited metabolic disorder 5527
            lipid metabolism disorder 1570
              Dyslipidemias 279
                familial hyperlipidemia 250
                  familial chylomicronemia syndrome 5
                    familial apolipoprotein C-II deficiency 1
paths to the root