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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 42
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Accession:DOID:0110237 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: CRYBA2-RELATED CONDITION
 related_synonym: CTRCT42
 primary_id: MIM:115900



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cataract 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: CRYBA2-related condition OMIM
ClinVar
PMID:25741868 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        lens disease 556
          cataract 545
            cataract 42 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              lens disease 556
                cataract 545
                  cataract 42 1
paths to the root