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
 xref: MESH:C563294;   MIM:601547;   MONDO:0011104



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
ISS
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
MouseDO
ClinVar
PMID:2240043 PMID:8812489 PMID:9158139 PMID:9536098 PMID:10634616 More... NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Cataract 3 multiple types ClinVar PMID:25741868 NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:87,917,004...87,928,291
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      eye disease 3724
        lens disease 557
          cataract 546
            cataract 3 multiple types 2
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              lens disease 557
                cataract 546
                  cataract 3 multiple types 2
paths to the root