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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:Timothy syndrome
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Accession:DOID:0060173 term browser browse the term
Definition:A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33. (DO)
Synonyms:exact_synonym: LQT8;   TS;   long QT syndrome 8;   long QT syndrome with syndactyly
 broad_synonym: CACNA1C-related disorder
 primary_id: MESH:C536962
 alt_id: OMIM:601005;   OMIM:618447
 xref: NCI:C142894;   ORDO:65283;   ORDO:768
For additional species annotation, visit the Alliance of Genome Resources.

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Timothy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO DNA:missense mutations:exon:p.G406R, p.G402S (human)
ClinVar Annotator: match by OMIM:601005
ClinVar Annotator: match by term: Timothy syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 8		 OMIM
ClinVar
CTD		 PMID:15454078 PMID:15863612 PMID:17224476 PMID:18250309 PMID:19074970 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22106044 PMID:22581653 PMID:23174487 PMID:23414114 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23677916 PMID:23690510 PMID:23861362 PMID:24033266 PMID:24183960 PMID:24690944 PMID:24728418 PMID:25184293 PMID:25333069 PMID:25633834 PMID:25691416 PMID:25741868 PMID:25974115 PMID:26227324 PMID:26230511 PMID:26386135 PMID:26822303 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27711072 PMID:27930701 PMID:28341588 PMID:28492532 PMID:28600387 PMID:28616568 PMID:29016939 PMID:29046645 PMID:29071820 PMID:30279520 PMID:30345660 PMID:31539150, PMID:15863612 RGD:1580173 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      long QT syndrome 248
        Timothy syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              Neurodevelopmental Disorders 4520
                Pervasive Child Development Disorders 1768
                  autism spectrum disorder 1765
                    autistic disorder 1608
                      Timothy syndrome 1
paths to the root