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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 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 OMIM
ClinVar
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 18156
    sensory system disease 6410
      eye disease 2936
        lens disease 313
          cataract 306
            cataract 33 2
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal dominant disease 5232
                cataract 33 2
paths to the root