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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


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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 chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO DNA:missense mutation:cds:p.N188T (human) RGD PMID:15448617 RGD:1578473 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        lens disease 456
          cataract 446
            Cataract, Autosomal Dominant Nuclear 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              lens disease 456
                cataract 446
                  Cataract, Autosomal Dominant Nuclear 2
paths to the root