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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 7
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Accession:DOID:0110260 term browser browse the term
Definition:A cataract that has_material_basis_in variation in the region 17q24. (DO)
Synonyms:exact_synonym: CATARACT 7, CERULEAN TYPE;   CCA1;   CTRCT7;   Cerulean Cataract;   congenital cataract, blue dot type 1;   congenital cataract, cerulean type 1
 primary_id: MESH:C537955
 alt_id: OMIM:115660
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158139 NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
JBrowse link
G Crygd crystallin, gamma D susceptibility ISO DNA:transversion:exon:p.P23T (human) RGD PMID:12676897 RGD:1601016 NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      eye disease 2732
        lens disease 219
          cataract 212
            cataract 7 2
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                cataract 7 2
paths to the root