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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 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
 alt_id: RDO:9001109
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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
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 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          cataract 15 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          eye disease 2592
            lens disease 220
              cataract 213
                cataract 15 multiple types 1
paths to the root


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