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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:EDICT Syndrome
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Accession:DOID:9002905 term browser browse the term
Synonyms:exact_synonym: EDICT;   ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME;   KERATOCONUS WITH CATARACT;   KTCNCT;   familial keratoconus with early-onset anterior polar cataract
 primary_id: OMIM:614303
For additional species annotation, visit the Alliance of Genome Resources.



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EDICT Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir184 microRNA 184 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      EDICT Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            corneal disease 197
              corneal dystrophy 41
                EDICT Syndrome 1
paths to the root