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 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 OMIM:601547
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, PMID:17234267, PMID:24120835, PMID:24704203, PMID:25741868, PMID:28492532, PMID:29386872, PMID:30450742 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        lens disease 220
          cataract 213
            cataract 3 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                cataract 3 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.