Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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
 xref: EFO:0009062

show annotations for term's descendants           Sort by:
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: KCNH1 associated disorder | ClinVar Annotator: match by term: Temple-Baraitser syndrome
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Temple-Baraitser syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              developmental disorder of mental health 5446
                specific developmental disorder 4430
                  intellectual disability 4243
                    Temple-Baraitser syndrome 1
paths to the root