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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:Zonular Cataract and Nystagmus
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Accession:DOID:9009000 term browser browse the term
Synonyms:exact_synonym: Nystagmus with congenital zonular cataract
 primary_id: MESH:C536727;   RDO:0002390
For additional species annotation, visit the Alliance of Genome Resources.


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Zonular Cataract and Nystagmus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Zonular cataract and nystagmus ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      eye disease 2649
        ocular motility disease 133
          pathologic nystagmus 31
            Zonular Cataract and Nystagmus 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          neuropathy 2235
            cranial nerve disease 418
              ocular motility disease 133
                pathologic nystagmus 31
                  Zonular Cataract and Nystagmus 1
paths to the root