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RGD uses the Human Disease Ontology (DO, 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
For additional species annotation, visit the Alliance of Genome Resources.

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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 OMIM:116400
ClinVar Annotator: match by term: Cataract 41
ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE
PMID:9856492 PMID:10521293 PMID:10679252 PMID:11260218 PMID:15605410 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        lens disease 219
          cataract 212
            cataract 41 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                cataract 41 1
paths to the root