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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
ClinVar Annotator: match by term: Long QT syndrome with syndactyly
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:30311386, PMID:30345660, PMID:15863612 RGD:1580173 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      long QT syndrome 251
        Timothy syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                Pervasive Child Development Disorders 1810
                  autism spectrum disorder 1807
                    autistic disorder 1660
                      Timothy syndrome 1
paths to the root

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