Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 39 multiple types
go back to main search page
Accession:DOID:0110236 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. (DO)
Synonyms:exact_synonym: CTRCT39;   autosomal dominant cataract 39 multiple types;   autosomal dominant cataract, multiple types 2
 primary_id: OMIM:615188
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cataract 39 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygb crystallin, gamma B ISO ClinVar Annotator: match by OMIM:615188
ClinVar Annotator: match by term: Cataract 39, multiple types
OMIM
ClinVar
PMID:23288985, PMID:28492532 NCBI chr 9:71,796,204...71,798,265
Ensembl chr 9:71,796,204...71,798,265
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        lens disease 220
          cataract 213
            cataract 39 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 0
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            lens disease 220
              cataract 213
                cataract 39 multiple types 1
paths to the root

NHLBI Logo

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