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RGD uses the Human Disease Ontology (DO, 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.

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Accession:DOID:9004193 term browser browse the term
Synonyms:primary_id: MESH:C566555
 alt_id: OMIM:602398
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Desmosterolosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhcr24 24-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Desmosterolosis
PMID:11519011 PMID:16410790 PMID:21559050 PMID:21671375 PMID:21902244 More... NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Nutritional and Metabolic Diseases 6810
      disease of metabolism 6810
        lipid metabolism disorder 1178
          Desmosterolosis 1
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          inherited metabolic disorder 4713
            lipid metabolism disorder 1178
              Desmosterolosis 1
paths to the root