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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:Cataract, Autosomal Dominant Nuclear
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Accession:DOID:9008035 term browser browse the term
Synonyms:primary_id: MESH:C565137;   RDO:0013864
For additional species annotation, visit the Alliance of Genome Resources.


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Cataract, Autosomal Dominant Nuclear term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO DNA:deletion:exon:c.279_281delGAG, p.G91del(human)
DNA:splice-site mutaion:intron: IVS3+2 T>G (human)
RGD PMID:21686330, PMID:22665976 RGD:10059633, RGD:10059638 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO DNA:missense mutation:cds:p.N188T (human) RGD PMID:15448617 RGD:1578473 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        lens disease 220
          cataract 213
            Cataract, Autosomal Dominant Nuclear 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            lens disease 220
              cataract 213
                Cataract, Autosomal Dominant Nuclear 2
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.