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ONTOLOGY REPORT - ANNOTATIONS


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: DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES;   PILBOS
 primary_id: OMIM:617682;   RDO:9005190
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PILAROWSKI-BJORNSSON SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd1 chromodomain helicase DNA binding protein 1 JBrowse link 1 57,692,828 57,756,762 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 15602
    syndrome 5231
      PILAROWSKI-BJORNSSON SYNDROME 1
Path 2
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  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            disease of mental health 5547
              Neurodevelopmental Disorders 4090
                PILAROWSKI-BJORNSSON SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.