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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: MIM:614691


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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: AGK-related disorder | ClinVar Annotator: match by term: Cataract 38 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22277967 PMID:22415731 PMID:24088041 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7375
      eye disease 3725
        lens disease 557
          cataract 546
            cataract 38 1
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Signs and Symptoms 11204
        Neurologic Manifestations 10440
          sensory system disease 7375
            eye disease 3725
              lens disease 557
                cataract 546
                  cataract 38 1
paths to the root