Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 12 multiple types
go back to main search page
Accession:DOID:0110239 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. (DO)
Synonyms:exact_synonym: CTRCT12;   autosomal dominant cataract, multiple types 1
 primary_id: MESH:C566909
 alt_id: OMIM:611597
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
cataract 12 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by OMIM:611597
ClinVar Annotator: match by term: Cataract 12, multiple types
OMIM
ClinVar
PMID:10729115 PMID:25741868 PMID:28492532 NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    sensory system disease 5678
      eye disease 2765
        lens disease 220
          cataract 213
            cataract 12 multiple types 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal dominant disease 4492
                cataract 12 multiple types 1
paths to the root