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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;   RDO:0014595
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:10679252, PMID:15605410, PMID:23531866, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:28590052 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          cataract 41 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            lens disease 220
              cataract 213
                cataract 41 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.