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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


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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:9467006 PMID:10684623 PMID:11123904 PMID:16564818 PMID:16735993 More... NCBI chr13:206,293,877...206,297,050
Ensembl chr13:206,293,849...206,297,015 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      eye disease 3325
        lens disease 416
          cataract 406
            Cataract, Autosomal Recessive Congenital 1 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              lens disease 416
                cataract 406
                  Cataract, Autosomal Recessive Congenital 1 1
paths to the root