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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: CTRCT12;   Cataract, Autosomal Dominant, Multiple Types 1
 primary_id: MESH:C566909
 alt_id: OMIM:611597
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:611597
ClinVar Annotator: match by term: Cataract 12, multiple types
OMIM
ClinVar
PMID:10729115, PMID:25741868, PMID:28492532 NCBI chr 8:111,908,614...111,965,889
Ensembl chr 8:111,908,614...111,965,889
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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 12 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 12 multiple types 1
paths to the root

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