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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, Autosomal Recessive Congenital 1
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Accession:DOID:9002535 term browser browse the term
Synonyms:primary_id: MESH:C565136;   RDO:0013863
For additional species annotation, visit the Alliance of Genome Resources.



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Cataract, Autosomal Recessive Congenital 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 ClinVar PMID:17724170 PMID:17937925 PMID:18587492 PMID:19503744 PMID:22045060 More... NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        lens disease 310
          cataract 305
            Cataract, Autosomal Recessive Congenital 1 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            lens disease 310
              cataract 305
                Cataract, Autosomal Recessive Congenital 1 1
paths to the root