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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
 xref: GARD:10937;   MESH:C567642;   MONDO:0013225;   OMIM:613327;   ORDO:228429


show annotations for term's descendants           Sort by:
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 chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Cavin1 caveolae associated protein 1 ISO
ISS		 ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4
CTD Direct Evidence: marker/mechanism
OMIM:613327		 OMIM
ClinVar
CTD
MouseDO		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital generalized lipodystrophy 7
        congenital generalized lipodystrophy type 4 2
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  complete generalized lipodystrophy 7
                    congenital generalized lipodystrophy 7
                      congenital generalized lipodystrophy type 4 2
paths to the root