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 chylomicronemia due to inhibition of lipoprotein lipase activity
go back to main search page
Accession:DOID:0111419 term browser browse the term
Definition:A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. (DO)
Synonyms:exact_synonym: familial chylomicronemia due to circulating inhibitor of lipoprotein lipase;   hyperlipoproteinemia type 1C;   hyperlipoproteinemia type IC
 primary_id: MESH:C566126
 alt_id: OMIM:118830


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6774
      disease of metabolism 6774
        lipid metabolism disorder 1483
          familial hyperlipidemia 242
            Hyperlipoproteinemias 65
              familial chylomicronemia due to inhibition of lipoprotein lipase activity 0
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16378
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16321
        genetic disease 16308
          inherited metabolic disorder 5208
            lipid metabolism disorder 1483
              Dyslipidemias 269
                familial hyperlipidemia 242
                  familial chylomicronemia syndrome 5
                    familial chylomicronemia due to inhibition of lipoprotein lipase activity 0
paths to the root