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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. (DO)
Synonyms:exact_synonym: CTRCT20
 primary_id: OMIM:116100


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:116100
ClinVar Annotator: match by term: Cataract 20 multiple types		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:16141006 PMID:17576681 PMID:18587492 PMID:19262743 More... NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        lens disease 456
          cataract 446
            cataract 20 multiple types 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              lens disease 456
                cataract 446
                  cataract 20 multiple types 1
paths to the root