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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 41
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Accession:DOID:0110241 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: CTRCT41;   Cataract 41, Congenital Nuclear Type;   Cataract, Nuclear Total
 primary_id: MESH:C566156
 alt_id: OMIM:116400

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cataract 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE | ClinVar Annotator: match by term: Cataract 41 OMIM
ClinVar		 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    sensory system disease 6584
      eye disease 3346
        lens disease 412
          cataract 402
            cataract 41 1
Path 2
Term Annotations click to browse term
  disease 15285
    Pathological Conditions, Signs and Symptoms 11816
      Signs and Symptoms 9793
        Neurologic Manifestations 9473
          sensory system disease 6584
            eye disease 3346
              lens disease 412
                cataract 402
                  cataract 41 1
paths to the root