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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:24357613 PMID:25420144 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:32581362 PMID:32860008 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Temple-Baraitser syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    Temple-Baraitser syndrome 1
paths to the root