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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:9788845, PMID:14598164, PMID:15016766, PMID:20142846, PMID:21686330, PMID:21850182, PMID:22919269, PMID:24281366, PMID:24926697, PMID:25461968, PMID:25741868, PMID:26851658, PMID:28149769, PMID:28492532, PMID:10585769 RGD:734831 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        lens disease 222
          cataract 215
            cataract 10 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                cataract 10 multiple types 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.