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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:POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
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Accession:DOID:9002536 term browser browse the term
Definition:A neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development .
Synonyms:exact_synonym: CSNK2B-RELATED INTELLECTUAL DISABILITY WITH OR WITHOUT EPILEPSY;   POBINDS
 primary_id: OMIM:618732
For additional species annotation, visit the Alliance of Genome Resources.



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POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
ClinVar Annotator: match by term: CSNK2B-related intellectual disability with or without epilepsy
ClinVar
OMIM
PMID:25741868 PMID:28585349 PMID:28762608 PMID:30655572 PMID:31784560 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Neurodevelopmental Disorders 5715
        POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          brain disease 9778
            disease of mental health 7064
              developmental disorder of mental health 4402
                specific developmental disorder 3664
                  intellectual disability 3475
                    POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 1
paths to the root