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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 16103
    sensory system disease 5162
      eye disease 2592
        lens disease 220
          cataract 213
            cataract 6 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            lens disease 220
              cataract 213
                cataract 6 multiple types 1
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.