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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

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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 term: Cataract 31 multiple types OMIM
ClinVar		 PMID:10682967 PMID:17701905 PMID:25741868 PMID:28492532 NCBI chr 2:38,093,909...38,139,932
Ensembl chr 2:38,093,829...38,140,367 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    sensory system disease 6584
      eye disease 3346
        lens disease 412
          cataract 402
            cataract 31 multiple types 1
Path 2
Term Annotations click to browse term
  disease 15285
    Pathological Conditions, Signs and Symptoms 11816
      Signs and Symptoms 9793
        Neurologic Manifestations 9473
          sensory system disease 6584
            eye disease 3346
              lens disease 412
                cataract 402
                  cataract 31 multiple types 1
paths to the root