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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:Pilarowski-Bjornsson Syndrome
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Accession:DOID:9008136 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. (OMIM)
Synonyms:exact_synonym: PILBOS;   developmental delay and speech apraxia with or without seizures
 primary_id: OMIM:617682


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Pilarowski-Bjornsson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd1 chromodomain helicase DNA binding protein 1 ISO ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28866611 NCBI chr 1:56,661,743...56,729,119
Ensembl chr 1:56,664,054...56,728,125 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Pilarowski-Bjornsson 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
                Pilarowski-Bjornsson Syndrome 1
paths to the root