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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 APOC2 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
For additional species annotation, visit the Alliance of Genome Resources.


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familial apolipoprotein C-II deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc2 apolipoprotein C2 ISO ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB ClinVar
OMIM
PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 PMID:2477392 PMID:2592354 PMID:3192518 PMID:3225819 PMID:3263393 PMID:3467353 PMID:3680515 PMID:3944267 PMID:3944271 PMID:7815420 PMID:7923858 PMID:8323539 PMID:8490626 PMID:12783430 PMID:25741868 PMID:28492532 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
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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 C-II 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 C-II deficiency 1
paths to the root