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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
 broad_synonym: KCNH1 ASSOCIATED DISORDER;   KCNH1-RELATED CONDITION
 primary_id: MESH:C567516
 alt_id: OMIM:611816;   RDO:0015576
 xref: EFO:0009062


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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: KCNH1 associated disorder | ClinVar Annotator: match by term: Temple-Baraitser syndrome		 CTD
OMIM
ClinVar		 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 18969
    syndrome 10889
      Temple-Baraitser syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    Temple-Baraitser syndrome 1
paths to the root