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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 30
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Accession:DOID:0110248 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. (DO)
Synonyms:exact_synonym: CATARACT 30, MULTIPLE TYPES;   CTRCT30;   Cataract 30, pulverulent;   Cataract, Nuclear Diffuse Nonprogressive;   Dusty cataract;   cataract Coppock-like
 primary_id: OMIM:116300
 alt_id: MESH:C566157
 xref: ORDO:98984


show annotations for term's descendants           Sort by:
cataract 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Cataract, Coppock-like ClinVar PMID:24281366 PMID:26694549 NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Vim vimentin ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CATARACT 30, PULVERULENT | ClinVar Annotator: match by term: Cataract 30
OMIM:116300		 OMIM
CTD
ClinVar
MouseDO		 PMID:19126778 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28492532 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        lens disease 456
          cataract 446
            cataract 30 2
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              lens disease 456
                cataract 446
                  cataract 30 2
paths to the root