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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: BSCL3;   Berardinelli-Seip Congenital Lipodystrophy, Type 3;   CGL3
 primary_id: MESH:C567282
 alt_id: OMIM:612526
 xref: ICD10CM:E88.1


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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 term: Congenital generalized lipodystrophy type 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 PMID:28492532 More... NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital generalized lipodystrophy 7
        congenital generalized lipodystrophy type 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  complete generalized lipodystrophy 7
                    congenital generalized lipodystrophy 7
                      congenital generalized lipodystrophy type 3 1
paths to the root