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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 15 multiple types
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Accession:DOID:0110251 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: CTRCT15
 primary_id: OMIM:615274
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 15 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Cataract 15, multiple types OMIM
ClinVar
PMID:3456204, PMID:10802646, PMID:10937580, PMID:16564824, PMID:18501347, PMID:20361015, PMID:21921980, PMID:24405844, PMID:25741868, PMID:27456987, PMID:28492532 NCBI chr 7:2,635,743...2,642,995
Ensembl chr 7:2,635,743...2,642,848
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        lens disease 222
          cataract 215
            cataract 15 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                cataract 15 multiple types 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.