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 3 multiple types
go back to main search page
Accession:DOID:0110269 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. (DO)
Synonyms:exact_synonym: CTRCT3;   Cataract, Congenital, Blue Dot Type, 2;   cataract 3 multiple types with or without microcornea
 narrow_synonym: CCA2;   congenital Cerulean type cataract 2
 primary_id: MESH:C563294
 alt_id: OMIM:601547
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
cataract 3 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 3 multiple types OMIM
ClinVar
PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        lens disease 310
          cataract 305
            cataract 3 multiple types 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                cataract 3 multiple types 1
paths to the root