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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 22 multiple types
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Accession:DOID:0110268 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. (DO)
Synonyms:exact_synonym: CATCN2;   CTRCT22;   Cataract, Congenital Nuclear, Autosomal Recessive 2
 primary_id: MESH:C565725;   RDO:0014284
 alt_id: OMIM:609741
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 22 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by OMIM:609741
ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2
OMIM
ClinVar
PMID:15914629, PMID:19182255, PMID:23508780, PMID:24940039, PMID:25741868, PMID:26694549, PMID:27307692, PMID:28492532 NCBI chr12:49,564,991...49,571,008
Ensembl chr12:49,565,992...49,571,006
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      eye disease 2592
        Hereditary Eye Diseases 572
          cataract 22 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          eye disease 2592
            lens disease 220
              cataract 213
                cataract 22 multiple types 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.