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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 12 multiple types
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Accession:DOID:0110239 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. (DO)
Synonyms:exact_synonym: BFSP2-RELATED CONDITION;   CTRCT12;   autosomal dominant cataract, multiple types 1
 primary_id: MESH:C566909
 alt_id: OMIM:611597


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cataract 12 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp2 beaded filament structural protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BFSP2-related condition | ClinVar Annotator: match by term: Cataract 12 multiple types		 OMIM
CTD
ClinVar		 PMID:10729115 PMID:12573667 PMID:14638724 PMID:21836522 PMID:25741868 More... NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        lens disease 456
          cataract 446
            cataract 12 multiple types 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              lens disease 456
                cataract 446
                  cataract 12 multiple types 1
paths to the root