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RGD uses the Human Disease Ontology (DO, 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 47
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Accession:DOID:0070353 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. (DO)
Synonyms:exact_synonym: CJMG;   CTRCT47;   juvenile cataract with microcornea;   juvenile cataract with microcornea and glucosuria
 primary_id: MESH:C567434
 alt_id: OMIM:612018
For additional species annotation, visit the Alliance of Genome Resources.

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cataract 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by OMIM:612018
ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria
PMID:17458810 PMID:18304496 PMID:21778275 PMID:25741868 PMID:26376857 NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        lens disease 220
          cataract 213
            cataract 47 1
Path 2
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        acquired metabolic disease 2898
          carbohydrate metabolism disease 1801
            glucose metabolism disease 1801
              Glycosuria 5
                renal glycosuria 4
                  cataract 47 1
paths to the root