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ONTOLOGY REPORT - ANNOTATIONS


Term:Birk-Barel syndrome
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Accession:DOID:0050675 term browser browse the term
Definition:A syndrome 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
 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      Birk-Barel syndrome 1
Path 2
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  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5776
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Birk-Barel syndrome 1
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