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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

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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 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: BRUNZELL SYNDROME, AGPAT2-RELATED ClinVar PMID:11967537 PMID:12826327 PMID:14557463 PMID:25741868 PMID:26336158 More... NCBI chrNW_004955513:4,142,074...4,145,097
Ensembl chrNW_004955513:4,135,460...4,149,677 		JBrowse link
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 chrNW_004955451:16,364,915...16,374,523
Ensembl chrNW_004955451:16,364,915...16,374,634 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      congenital generalized lipodystrophy 7
        congenital generalized lipodystrophy type 4 2
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              Metabolic Skin Diseases 185
                lipodystrophy 185
                  complete generalized lipodystrophy 7
                    congenital generalized lipodystrophy 7
                      congenital generalized lipodystrophy type 4 2
paths to the root