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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 3
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Accession:DOID:0111137 term browser browse the term
Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. (DO)
Synonyms:exact_synonym: Berardinelli-Seip Congenital Lipodystrophy, Type 3;   Bscl3;   Cgl3
 primary_id: MESH:C567282
 alt_id: OMIM:612526;   RDO:0015398
 xref: ICD10CM:E88.1
For additional species annotation, visit the Alliance of Genome Resources.


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congenital generalized lipodystrophy type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by OMIM:612526 OMIM
ClinVar
PMID:18211975 PMID:25356970 PMID:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      congenital generalized lipodystrophy 5
        congenital generalized lipodystrophy type 3 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          skin disease 2945
            Metabolic Skin Diseases 37
              lipodystrophy 37
                complete generalized lipodystrophy 5
                  congenital generalized lipodystrophy 5
                    congenital generalized lipodystrophy type 3 1
paths to the root