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 2 multiple types
go back to main search page
Accession:DOID:0110235 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: CATARACT 2, COPPOCK-LIKE;   CCL;   CTRCT2;   Cataract, Coppock-Like;   Cataract, Embryonic Nuclear;   cataract 2 multiple types with or without microcornea
 narrow_synonym: nuclear pulverulent cataract
 primary_id: MESH:C565133
 alt_id: OMIM:604307
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cataract 2 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Nuclear pulverulent cataract
ClinVar Annotator: match by term: Cataract 2, multiple types
ClinVar Annotator: match by term: Cataract, coppock-like
ClinVar Annotator: match by OMIM:604307
ClinVar Annotator: match by term: Cataract 2, coppock-like
OMIM
ClinVar
PMID:8004095 PMID:8190472 PMID:10521291 PMID:10914683 PMID:12011157 More... NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626
JBrowse link
G Crygd crystallin, gamma D ISS OMIM:604307 MouseDO NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        lens disease 219
          cataract 212
            cataract 2 multiple types 2
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                cataract 2 multiple types 2
paths to the root