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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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  disease 14759
    syndrome 4210
      Birk-Barel syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Birk-Barel syndrome 1
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