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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
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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.


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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 More... NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      eye disease 2732
        lens disease 219
          cataract 212
            cataract 3 multiple types 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                cataract 3 multiple types 1
paths to the root