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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 31 multiple types
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Accession:DOID:0110265 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: CPP3;   CTPP3;   CTRCT31;   posterior polar cataract 3
 primary_id: MESH:C535343
 alt_id: OMIM:605387
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 31 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp4b charged multivesicular body protein 4B ISO ClinVar Annotator: match by OMIM:605387
ClinVar Annotator: match by term: Cataract 31 multiple types
OMIM
ClinVar
PMID:10682967, PMID:17701905, PMID:28492532 NCBI chr 3:150,188,275...150,227,453
Ensembl chr 3:150,188,455...150,227,405
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      eye disease 2665
        lens disease 222
          cataract 215
            cataract 31 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                cataract 31 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.