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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 4
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Accession:DOID:0111138 term browser browse the term
Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: BSCL4;   Berardinelli-Seip congenital lipodystrophy type 4, with muscular dystrophy;   Brunzell syndrome AGPAT2-related;   CGL4;   GCL4;   generalised congenital lipodystrophy type 4;   generalised congenital lipodystrophy with myopathy;   generalized congenital lipodystrophy with myopathy
 primary_id: MESH:C567642
 alt_id: OMIM:613327
 xref: GARD:10937;   ORDO:228429
For additional species annotation, visit the Alliance of Genome Resources.



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congenital generalized lipodystrophy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 OMIM
ClinVar
PMID:12116229 PMID:18698612 PMID:19726876 PMID:20300641 PMID:20684003 More... NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital generalized lipodystrophy 5
        congenital generalized lipodystrophy type 4 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          skin disease 3783
            Metabolic Skin Diseases 38
              lipodystrophy 38
                complete generalized lipodystrophy 5
                  congenital generalized lipodystrophy 5
                    congenital generalized lipodystrophy type 4 1
paths to the root