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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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: 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:612292
ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome
ClinVar Annotator: match by term: Birk Barel mental retardation dysmorphism syndrome
ClinVar Annotator: match by term: Birk-Barel syndrome
OMIM
ClinVar
PMID:18678320, PMID:23236211, PMID:25326635, PMID:25741868, PMID:27151206 NCBI chr 7:113,894,918...113,938,397
Ensembl chr 7:113,903,557...113,937,941
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Birk-Barel syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Birk-Barel syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.