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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;   CTRCT2;   Cataract, Coppock-Like;   Cataract, Embryonic Nuclear;   cataract 2 multiple types with or without microcornea
 narrow_synonym: NUCLEAR PULVERULENT CATARACT
 primary_id: MESH:C565133;   RDO:0013860
 alt_id: OMIM:604307
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: Nuclear pulverulent cataract
ClinVar Annotator: match by term: Cataract, coppock-like
ClinVar Annotator: match by OMIM:604307
ClinVar Annotator: match by term: Cataract 2, coppock-like
OMIM
ClinVar
PMID:8004095, PMID:8190472, PMID:10521291, PMID:10914683, PMID:12011157, PMID:12601044, PMID:17679936, PMID:19204787, PMID:22052681, PMID:22876111, PMID:24281366, PMID:26694549, PMID:27307692, PMID:27535533, PMID:28298635, PMID:28492532 NCBI chr 9:71,786,246...71,788,281
Ensembl chr 9:71,786,248...71,788,281
JBrowse link
G Crygd crystallin, gamma D ISS OMIM:604307 MouseDO NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          cataract 2 multiple types 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            lens disease 220
              cataract 213
                cataract 2 multiple types 2
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.