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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:14557463 PMID:14715872 PMID:15181077 More... NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital generalized lipodystrophy 5
        congenital generalized lipodystrophy type 1 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          skin disease 3771
            Metabolic Skin Diseases 38
              lipodystrophy 38
                complete generalized lipodystrophy 5
                  congenital generalized lipodystrophy 5
                    congenital generalized lipodystrophy type 1 1
paths to the root