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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 IAGP
EXP
ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 3
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 PMID:28492532 More... NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    physical disorder 7094
      congenital generalized lipodystrophy 9
        congenital generalized lipodystrophy type 3 1
Path 2
Term Annotations click to browse term
  disease 40760
    Pathological Conditions, Signs and Symptoms 20966
      Signs and Symptoms 16046
        Neurologic Manifestations 15118
          sensory system disease 9679
            skin disease 4862
              Metabolic Skin Diseases 233
                lipodystrophy 233
                  complete generalized lipodystrophy 9
                    congenital generalized lipodystrophy 9
                      congenital generalized lipodystrophy type 3 1
paths to the root