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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 intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. (DO)
Synonyms:exact_synonym: Baraitser Syndrome;   CLABARS;   MRD49;   TRIP12-RELATED CONDITION;   autosomal dominant intellectual disability 49;   autosomal dominant mental retardation 49
 primary_id: MESH:C536208
 alt_id: OMIM:617752
 xref: GARD:13584


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Clark-Baraitser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP12 thyroid hormone receptor interactor 12 IAGP ClinVar Annotator: match by term: Clark-Baraitser syndrome
ClinVar Annotator: match by term: TRIP12-related condition
ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition		 ClinVar
OMIM		 PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 2:229,763,837...229,923,186
Ensembl chr 2:229,763,837...229,923,239 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Clark-Baraitser syndrome 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  intellectual disability 7166
                    autosomal dominant intellectual developmental disorder 855
                      Clark-Baraitser syndrome 1
paths to the root