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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
For additional species annotation, visit the Alliance of Genome Resources.


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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:28866611 NCBI chr 1:57,692,828...57,756,762
Ensembl chr 1:57,692,836...57,755,485
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Pilarowski-Bjornsson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              Neurodevelopmental Disorders 4554
                Pilarowski-Bjornsson 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.