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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 OMIM:609741
ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2
OMIM
ClinVar
PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25741868 PMID:26694549 PMID:27307692 PMID:28492532 NCBI chr12:49,564,991...49,571,008
Ensembl chr12:49,565,992...49,571,006
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        Hereditary Eye Diseases 600
          cataract 22 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                cataract 22 multiple types 1
paths to the root