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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 2 multiple types
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Accession:DOID:0110235 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: CATARACT 2, COPPOCK-LIKE;   CCL;   CRYGC-RELATED CONDITION;   CTRCT2;   Cataract, Coppock-Like;   Cataract, Embryonic Nuclear;   cataract 2 multiple types with or without microcornea
 narrow_synonym: nuclear pulverulent cataract
 primary_id: OMIM:604307
 alt_id: MESH:C565133


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cataract 2 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygc crystallin, gamma C ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:604307
ClinVar Annotator: match by term: Cataract 2, multiple types | ClinVar Annotator: match by term: Cataract, Coppock-like | ClinVar Annotator: match by term: Nuclear pulverulent cataract		 OMIM
CTD
MouseDO
ClinVar		 PMID:8004095 PMID:8190472 PMID:10521291 PMID:10914683 PMID:12011157 More... NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Crygd crystallin, gamma D ISS OMIM:604307 MouseDO NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		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 2 multiple types 2
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 2 multiple types 2
paths to the root