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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:CHOPRA-AMIEL-GORDON SYNDROME
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Accession:DOID:9002816 term browser browse the term
Definition:This disease is an autosomal dominant disorder characterized by developmental delay and/or impaired intellectual development, speech delay, facial dysmorphism, and variable other features.
Synonyms:exact_synonym: CAGS
 primary_id: OMIM:619504


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CHOPRA-AMIEL-GORDON SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Chopra-Amiel-Gordon syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33909992 NCBI chr14:17,723,239...17,861,841
Ensembl chr14:17,721,932...17,862,617 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        CHOPRA-AMIEL-GORDON SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                CHOPRA-AMIEL-GORDON SYNDROME 1
paths to the root