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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 6 multiple types
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Accession:DOID:0110229 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: ARCC2;   CTPP1;   CTRCT6;   age-cortical cataract 2;   age-related cortical cataract 2;   age-related cortical cataract 6;   posterior polar cataract 1
 broad_synonym: age-related cortical cataract
 primary_id: MESH:C535339
 alt_id: OMIM:116600
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 6 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by OMIM:116600
ClinVar Annotator: match by term: Cataract 6, multiple types
ClinVar Annotator: match by term: Age-related cortical cataract
OMIM
ClinVar
PMID:9002669 PMID:12167657 PMID:15965161 PMID:16051609 PMID:19005574 PMID:19306328 PMID:19649315 PMID:20360610 PMID:20625407 PMID:22570727 PMID:22645087 PMID:22829731 PMID:23447127 PMID:24014202 PMID:24705208 PMID:24968223 PMID:25741868 PMID:26900323 PMID:28492532 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        lens disease 222
          cataract 215
            cataract 6 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                cataract 6 multiple types 1
paths to the root