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ONTOLOGY REPORT - ANNOTATIONS


Term:Birk-Barel syndrome
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Accession:DOID:0050675 term browser browse the term
Definition:An autosomal dominant disease that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: BIRK-BAREL INTELLECTUAL DISABILITY DYSMORPHISM SYNDROME;   Birk-Barel Mental Retardation Dysmorphism Syndrome;   Mental Retardation with Hypotonia and Facial Dysmorphism
 primary_id: MESH:C567357;   RDO:0015448
 alt_id: OMIM:612292
 xref: GARD:10358
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Birk-Barel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnk9 potassium two pore domain channel subfamily K member 9 JBrowse link 7 113,894,918 113,938,397 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Birk-Barel syndrome 1
Path 2
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  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    Birk-Barel syndrome 1
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