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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:congenital generalized lipodystrophy type 1
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Accession:DOID:0111135 term browser browse the term
Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. (DO)
Synonyms:exact_synonym: AGPAT2-related Brunzell syndrome;   BSCL1;   Berardinelli Seip congenital lipodystrophy type 1;   CGL1
 primary_id: OMIM:608594
 xref: GARD:84


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congenital generalized lipodystrophy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 OMIM
ClinVar		 PMID:11967537 PMID:12765973 PMID:12826327 PMID:14557463 PMID:14715872 More... NCBI chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital generalized lipodystrophy 7
        congenital generalized lipodystrophy type 1 1
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              Metabolic Skin Diseases 198
                lipodystrophy 198
                  complete generalized lipodystrophy 7
                    congenital generalized lipodystrophy 7
                      congenital generalized lipodystrophy type 1 1
paths to the root