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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: BIBARS;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome
PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 More... NCBI chr 7:104,429,186...104,473,924
Ensembl chr 7:104,437,934...104,473,175
JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32439617 More... NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    syndrome 10708
      Birk-Barel syndrome 2
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        central nervous system disease 12334
          brain disease 11564
            disease of mental health 8223
              developmental disorder of mental health 5467
                specific developmental disorder 4432
                  intellectual disability 4242
                    Birk-Barel syndrome 2
paths to the root