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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;   SIPA1L3-RELATED CONDITION
 primary_id: MIM:616851


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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 Annotator: match by term: SIPA1L3-related condition OMIM
ClinVar		 PMID:25741868 PMID:25804400 PMID:28492532 NCBI chr 1:84,618,714...84,825,956
Ensembl chr 1:84,618,719...84,703,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      eye disease 3724
        lens disease 557
          cataract 546
            cataract 45 1
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              lens disease 557
                cataract 546
                  cataract 45 1
paths to the root