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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
 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 2, multiple types
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:18587492 PMID:19204787 PMID:22052681 PMID:22876111 PMID:24281366 PMID:25741868 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 16909
    sensory system disease 5238
      eye disease 2637
        lens disease 202
          cataract 195
            cataract 2 multiple types 2
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                cataract 2 multiple types 2
paths to the root