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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 20 multiple types
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Accession:DOID:0110240 term browser browse the term
Definition:A cataract that has material basis in heterozygous mutation in the CRYGS gene on chromosome 3q27.
Synonyms:exact_synonym: CTRCT20
 primary_id: OMIM:116100
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 20 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Cataract 20 multiple types OMIM
ClinVar
PMID:16141006 PMID:18587492 PMID:19262743 PMID:28492532 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
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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 20 multiple types 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 20 multiple types 1
paths to the root