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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 2
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Accession:DOID:0111136 term browser browse the term
Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. (DO)
Synonyms:exact_synonym: Berardinelli-Seip congenital lipodystrophy type 2;   Berardinelli-Seip syndrome;   Berardinelli-Seip syndrome type 2;   Brunzell syndrome BSCL2-related;   CGL2;   total lipodystrophy and acromegaloid gigantism
 primary_id: OMIM:269700
 xref: GARD:10212

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congenital generalized lipodystrophy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 OMIM
ClinVar		 PMID:9536098 PMID:11479539 PMID:11916958 PMID:12030893 PMID:12362029 More... NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		JBrowse link
G GNG3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 ClinVar PMID:25741868 NCBI chr 1:11,198,347...11,199,952
Ensembl chr 1:11,198,738...11,199,242 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO OMIM:269700 MouseDO NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    physical disorder 4829
      congenital generalized lipodystrophy 7
        congenital generalized lipodystrophy type 2 3
Path 2
Term Annotations click to browse term
  disease 15273
    Pathological Conditions, Signs and Symptoms 11780
      Signs and Symptoms 9744
        Neurologic Manifestations 9422
          sensory system disease 6524
            skin disease 3706
              Metabolic Skin Diseases 196
                lipodystrophy 196
                  complete generalized lipodystrophy 7
                    congenital generalized lipodystrophy 7
                      congenital generalized lipodystrophy type 2 3
paths to the root