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RGD uses the Human Disease Ontology (DO, 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 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 16096
    sensory system disease 5163
      eye disease 2592
        lens disease 220
          cataract 213
            Zonular Cataract and Nystagmus 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            cranial nerve disease 472
              ocular motility disease 173
                pathologic nystagmus 48
                  Zonular Cataract and Nystagmus 1
paths to the root


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