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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:exact_synonym: RDH11-RELATED CONDITION
 primary_id: MIM:616108;   RDO:9001211


show annotations for term's descendants           Sort by:
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gphn gephyrin ISO ClinVar Annotator: match by term: RDH11-related condition | ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome ClinVar PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: RDH11-related condition | ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM
ClinVar		 PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr 6:103,712,373...103,728,247
Ensembl chr 6:97,979,378...97,995,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              eye degenerative disease 930
                retinal degeneration 928
                  fundus dystrophy 784
                    Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
paths to the root