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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 33
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Accession:DOID:0110264 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. (DO)
Synonyms:exact_synonym: CATARACT 33, MULTIPLE TYPES;   CTRCT33;   cortical cataract 33
 related_synonym: cortical cataract, juvenile-onset
 primary_id: MESH:C566955
 alt_id: OMIM:611391
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
cataract 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Cataract 33, multiple types
ClinVar Annotator: match by term: Cataract, cortical, juvenile-onset
ClinVar Annotator: match by OMIM:611391
PMID:12454043 PMID:14638724 PMID:17225135 PMID:24281366 PMID:24379646 More... NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:12082175 RGD:734947 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    sensory system disease 5664
      eye disease 2768
        lens disease 219
          cataract 212
            cataract 33 2
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            autosomal genetic disease 6319
              autosomal dominant disease 4482
                cataract 33 2
paths to the root