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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 23
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Accession:DOID:0110271 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. (DO)
Synonyms:exact_synonym: CATARACT 23, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;   CTRCT23;   cataract 23, multiple types;   lamellar cataract 23
 primary_id: OMIM:610425
 alt_id: RDO:0009426
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Cataract 23, multiple types OMIM
ClinVar
PMID:15452067 PMID:16960806 PMID:20577656 PMID:24968223 PMID:25741868 More... NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          cataract 23 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        sensory system disease 5664
          eye disease 2768
            lens disease 219
              cataract 212
                cataract 23 1
paths to the root