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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 38
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Accession:DOID:0110245 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. (DO)
Synonyms:exact_synonym: AGK-related disorder;   AGK-related disorders;   CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5;   CATC5;   CTRCT38
 primary_id: OMIM:614691
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5
ClinVar Annotator: match by term: AGK-Related Disorders
OMIM
ClinVar
PMID:22415731 PMID:24088041 PMID:25741868 PMID:26582918 PMID:26633545 PMID:28492532 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5 ClinVar NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    sensory system disease 5584
      eye disease 2725
        lens disease 216
          cataract 209
            cataract 38 2
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal recessive disease 3443
                cataract 38 2
paths to the root