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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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          cataract 23 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            lens disease 220
              cataract 213
                cataract 23 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.