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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:25741868 PMID:26694549 PMID:28492532 NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          cataract 23 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          eye disease 2665
            lens disease 222
              cataract 215
                cataract 23 1
paths to the root