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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:Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
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Accession:DOID:9000849 term browser browse the term
Synonyms:primary_id: OMIM:616108;   RDO:9001211
For additional species annotation, visit the Alliance of Genome Resources.


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Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by OMIM:616108 OMIM
ClinVar
PMID:24916380 NCBI chr 6:102,356,498...102,372,618
Ensembl chr 6:102,356,492...102,372,611
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            retinal disease 783
              retinal degeneration 468
                fundus dystrophy 339
                  Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.