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ONTOLOGY REPORT - ANNOTATIONS


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;   generalized congenital lipodystrophy with myopathy
 primary_id: MESH:C567642
 alt_id: OMIM:613327;   RDO:0015658
 xref: GARD:10937;   ORDO:228429
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congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          lipodystrophy 31
            complete generalized lipodystrophy 5
              congenital generalized lipodystrophy 5
                congenital generalized lipodystrophy type 4 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Metabolic Skin Diseases 31
              lipodystrophy 31
                complete generalized lipodystrophy 5
                  congenital generalized lipodystrophy 5
                    congenital generalized lipodystrophy type 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.