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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:Clark-Baraitser syndrome
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Accession:DOID:0080234 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. (DO)
Synonyms:exact_synonym: Baraitser Syndrome;   CLABARS;   MRD49;   autosomal dominant intellectual disability 49;   autosomal dominant mental retardation 49
 primary_id: MESH:C536208
 alt_id: OMIM:617752
 xref: GARD:13584
For additional species annotation, visit the Alliance of Genome Resources.


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Clark-Baraitser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
ClinVar Annotator: match by term: Clark-Baraitser syndrome
ClinVar
OMIM
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28660352 PMID:31814248 NCBI chr 9:92,305,059...92,435,388
Ensembl chr 9:92,305,051...92,435,365
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Clark-Baraitser syndrome 2
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            disease of mental health 6932
              developmental disorder of mental health 4273
                specific developmental disorder 3532
                  intellectual disability 3385
                    non-syndromic intellectual disability 402
                      autosomal dominant non-syndromic intellectual disability 308
                        Clark-Baraitser syndrome 2
paths to the root