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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:Desmosterolosis
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Accession:DOID:9004193 term browser browse the term
Synonyms:primary_id: MESH:C566555
 alt_id: OMIM:602398



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
OMIM
CTD
ClinVar
PMID:11519011 PMID:16410790 PMID:21559050 PMID:21671375 PMID:21902244 More... NCBI chr 5:121,344,552...121,371,124
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 21120
    Nutritional and Metabolic Diseases 8225
      disease of metabolism 8225
        lipid metabolism disorder 1732
          Desmosterolosis 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          inherited metabolic disorder 6206
            lipid metabolism disorder 1732
              Desmosterolosis 1
paths to the root