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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;   MIP-RELATED CONDITION
 primary_id: OMIM:615274

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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 | ClinVar Annotator: match by term: MIP-related condition OMIM
ClinVar		 PMID:3456204 PMID:9536098 PMID:10802646 PMID:10937580 PMID:16199547 More... NCBI chr11:52,409,592...52,415,752
Ensembl chr11:52,410,325...52,413,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    sensory system disease 6584
      eye disease 3346
        lens disease 412
          cataract 402
            cataract 15 multiple types 1
Path 2
Term Annotations click to browse term
  disease 15285
    Pathological Conditions, Signs and Symptoms 11816
      Signs and Symptoms 9793
        Neurologic Manifestations 9473
          sensory system disease 6584
            eye disease 3346
              lens disease 412
                cataract 402
                  cataract 15 multiple types 1
paths to the root