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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
 broad_synonym: congenital lipoatrophic diabetes
 primary_id: OMIM:269700
 xref: GARD:10212
For additional species annotation, visit the Alliance of Genome Resources.


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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: Congenital generalized lipodystrophy type 2 ClinVar
OMIM
PMID:11479539 PMID:11916958 PMID:12030893 PMID:15126564 PMID:18057387 PMID:18093937 PMID:19041432 PMID:19226263 PMID:23564749 PMID:23963299 PMID:23989774 PMID:25588603 PMID:25741868 PMID:26282322 PMID:26467025 PMID:27144933 PMID:27612026 PMID:28492532 PMID:30903322 PMID:31770241 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:269700 MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      congenital generalized lipodystrophy 5
        congenital generalized lipodystrophy type 2 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          skin disease 2943
            Metabolic Skin Diseases 37
              lipodystrophy 37
                complete generalized lipodystrophy 5
                  congenital generalized lipodystrophy 5
                    congenital generalized lipodystrophy type 2 2
paths to the root