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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 42
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Accession:DOID:0110237 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. (DO)
Synonyms:related_synonym: CTRCT42
 primary_id: OMIM:115900
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba2 crystallin, beta A2 ISO OMIM NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      eye disease 2732
        lens disease 219
          cataract 212
            cataract 42 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                cataract 42 1
paths to the root