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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:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          Nervous System Heredodegenerative Disorders 1977
            Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            Metabolic Skin Diseases 37
              lipodystrophy 37
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
paths to the root