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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 term: Retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM
ClinVar
PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            retinal disease 839
              retinal degeneration 509
                fundus dystrophy 378
                  Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
paths to the root