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 14875
    syndrome 4220
      Birk-Barel syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Birk-Barel syndrome 1
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