Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: MIM:618732



show annotations for term's descendants           Sort by:
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 OMIM
ClinVar
PMID:11574463 PMID:25741868 PMID:28492532 PMID:28585349 PMID:28762608 More... NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
JBrowse link
G Ly6g5b lymphocyte antigen 6 family member G5B ISO ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome ClinVar PMID:29758562 NCBI chr20:3,705,464...3,707,830
Ensembl chr20:3,706,124...3,707,133
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    Developmental Disease 14528
      Neurodevelopmental Disorders 6945
        POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      nervous system disease 14266
        central nervous system disease 12594
          brain disease 11821
            disease of mental health 8418
              developmental disorder of mental health 5643
                specific developmental disorder 4600
                  intellectual disability 4380
                    POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 2
paths to the root