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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: CSNK2A1-RELATED CONDITION;   OCNDS
 related_synonym: CSNK2A1- RELATED DISORDERS
 primary_id: OMIM:617062



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome
OMIM
CTD
ClinVar
PMID:11574463 PMID:24395637 PMID:25363768 PMID:25741868 PMID:27048600 More... NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
JBrowse link
G Galnt18 polypeptide N-acetylgalactosaminyltransferase 18 ISO ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome ClinVar PMID:25741868 NCBI chr 1:165,593,180...165,904,268
Ensembl chr 1:165,593,187...165,904,268
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      Okur-Chung Neurodevelopmental Syndrome 2
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      nervous system disease 14045
        central nervous system disease 12381
          brain disease 11618
            disease of mental health 8282
              developmental disorder of mental health 5519
                specific developmental disorder 4478
                  communication disorder 389
                    language disorder 152
                      speech disorder 79
                        Okur-Chung Neurodevelopmental Syndrome 2
paths to the root