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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:Lipodystrophy with Congenital Cataracts and Neurodegeneration
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Accession:DOID:9001140 term browser browse the term
Synonyms:exact_synonym: PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
 primary_id: MESH:C564669;   RDO:0013549
 alt_id: OMIM:606721
For additional species annotation, visit the Alliance of Genome Resources.



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Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM
ClinVar
PMID:11739396 PMID:18237401 PMID:25356970 PMID:25741868 PMID:25898808 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          Nervous System Heredodegenerative Disorders 2365
            Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            Metabolic Skin Diseases 38
              lipodystrophy 38
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
paths to the root