Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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: Familial apolipoprotein C-II deficiency OMIM
ClinVar
PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        lipid metabolism disorder 1149
          familial hyperlipidemia 311
            familial chylomicronemia syndrome 5
              familial apolipoprotein C-II deficiency 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            lipid metabolism disorder 1149
              Dyslipidemias 339
                familial hyperlipidemia 311
                  familial chylomicronemia syndrome 5
                    familial apolipoprotein C-II deficiency 1
paths to the root