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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 22 multiple types
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Accession:DOID:0110268 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. (DO)
Synonyms:exact_synonym: CATCN2;   CTRCT22;   Cataract, Congenital Nuclear, Autosomal Recessive 2
 primary_id: MESH:C565725
 alt_id: OMIM:609741
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 22 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by term: Cataract 22 multiple types | ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2 OMIM
ClinVar
PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25741868 More... NCBI chr12:43,557,103...43,562,120
Ensembl chr12:43,557,103...43,562,120
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      eye disease 3185
        Hereditary Eye Diseases 757
          cataract 22 multiple types 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                cataract 22 multiple types 1
paths to the root