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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 27
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Accession:DOID:0110233 term browser browse the term
Definition:A cataract that has_material_basis_in mutation in the region 2p12. (DO)
Synonyms:exact_synonym: CCNP;   CTRCT27;   Cataract, Congenital, Nuclear Progressive;   cataract 27 nuclear progressive;   nuclear progressive cataract
 primary_id: MESH:C564596
 alt_id: OMIM:607304

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cataract 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA8 gap junction protein alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14627691
G PAX6 paired box 6 ISO associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) RGD PMID:22393272 RGD:8552277 NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    Developmental Disease 13266
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12383
        genetic disease 12038
          cataract 27 2
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      nervous system disease 13000
        Neurologic Manifestations 9473
          sensory system disease 6584
            eye disease 3346
              lens disease 412
                cataract 402
                  cataract 27 2
paths to the root