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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 10 multiple types
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Accession:DOID:0110258 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. (DO)
Synonyms:exact_synonym: CTRCT10
 narrow_synonym: CCZS;   congenital zonular cataract with sutural opacities
 primary_id: MESH:C563435
 alt_id: OMIM:600881
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 10 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO ClinVar Annotator: match by OMIM:600881
DNA:mutation:exon:170T>A(mouse)
ClinVar Annotator: match by term: Cataract, congenital zonular, with sutural opacities
OMIM
ClinVar
PMID:9536098 PMID:9788845 PMID:11006214 PMID:14598164 PMID:14693780 More... RGD:734831 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        lens disease 219
          cataract 212
            cataract 10 multiple types 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                cataract 10 multiple types 1
paths to the root