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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 45
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Accession:DOID:0110262 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: CTRCT45
 primary_id: OMIM:616851
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sipa1l3 signal-induced proliferation-associated 1 like 3 ISO ClinVar Annotator: match by term: Cataract 45 ClinVar
OMIM
PMID:25741868 PMID:25804400 NCBI chr 1:84,618,714...84,825,956
Ensembl chr 1:84,618,719...84,703,802
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    sensory system disease 5678
      eye disease 2765
        lens disease 220
          cataract 213
            cataract 45 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal recessive disease 3497
                cataract 45 1
paths to the root