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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:CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
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Accession:DOID:9007606 term browser browse the term
Definition:This disease is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay.
Synonyms:exact_synonym: CHOCNS
 primary_id: OMIM:619841


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CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Chilton-Okur-Chung neurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:32031333 PMID:38177409 NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL 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
                CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 1
paths to the root