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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, Sutural, with Punctate and Cerulean Opacities
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Accession:DOID:9004255 term browser browse the term
Synonyms:primary_id: MESH:C564619


show annotations for term's descendants           Sort by:
Cataract, Sutural, with Punctate and Cerulean Opacities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO ClinVar Annotator: match by term: Cataract, sutural, with punctate and cerulean opacities ClinVar PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        lens disease 456
          cataract 446
            Cataract, Sutural, with Punctate and Cerulean Opacities 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              lens disease 456
                cataract 446
                  Cataract, Sutural, with Punctate and Cerulean Opacities 1
paths to the root