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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:Okur-Chung Neurodevelopmental Syndrome
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Accession:DOID:9001345 term browser browse the term
Definition:An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. (OMIM)
Synonyms:exact_synonym: OCNDS
 related_synonym: CSNK2A1- RELATED DISORDERS
 primary_id: OMIM:617062
For additional species annotation, visit the Alliance of Genome Resources.


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Okur-Chung Neurodevelopmental Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Okur-chung neurodevelopmental syndrome
ClinVar Annotator: match by term: CSNK2A1- Related Disorders
ClinVar
OMIM
PMID:17954558, PMID:21761202, PMID:24395637, PMID:25741868, PMID:27048600, PMID:28135719, PMID:28492532, PMID:28725024, PMID:29240241, PMID:29383814, PMID:29619237 NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Okur-Chung Neurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  communication disorder 293
                    language disorder 206
                      speech disorder 75
                        Okur-Chung Neurodevelopmental Syndrome 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.