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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: MIM: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:25418537 PMID:25741868 PMID:28492532 PMID:28866611 NCBI chr 1:56,661,743...56,729,119
Ensembl chr 1:56,664,054...56,728,125
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G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome ClinVar PMID:25741868 PMID:26809805 PMID:33772369 PMID:34215756 PMID:35485766 More... NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19060
    syndrome 11180
      Pilarowski-Bjornsson Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19060
    disease of anatomical entity 18398
      nervous system disease 14271
        central nervous system disease 12601
          brain disease 11830
            disease of mental health 8422
              Neurodevelopmental Disorders 6946
                Pilarowski-Bjornsson Syndrome 2
paths to the root