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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 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


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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 IAGP
EXP		 ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria
ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 More... NCBI chr10:89,430,299...89,556,704
Ensembl chr10:89,430,299...89,556,641 		JBrowse link
G SLC16A12-AS1 SLC16A12 antisense RNA 1 IAGP ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA ClinVar PMID:25741868 NCBI chr10:89,455,991...89,468,151
Ensembl chr10:89,456,064...89,468,140 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    sensory system disease 9761
      eye disease 4963
        lens disease 595
          cataract 574
            cataract 47 2
Path 2
Term Annotations click to browse term
  disease 35754
    Developmental Disease 28610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24646
        genetic disease 23840
          inherited metabolic disorder 7909
            carbohydrate metabolic disorder 3660
              glucose metabolism disease 2042
                Glycosuria 7
                  renal glycosuria 6
                    cataract 47 2
paths to the root