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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:Temple-Baraitser syndrome
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Accession:DOID:9007410 term browser browse the term
Synonyms:exact_synonym: Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex;   TMBTS
 primary_id: MESH:C567516
 alt_id: OMIM:611816;   RDO:0015576
For additional species annotation, visit the Alliance of Genome Resources.



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Temple-Baraitser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Temple-Baraitser syndrome
CTD
ClinVar
OMIM
PMID:18203178 PMID:20683999 PMID:23020937 PMID:24357613 PMID:25420144 More... NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    syndrome 8258
      Temple-Baraitser syndrome 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        central nervous system disease 10473
          brain disease 9833
            disease of mental health 7117
              developmental disorder of mental health 4432
                specific developmental disorder 3680
                  intellectual disability 3492
                    Temple-Baraitser syndrome 1
paths to the root