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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 characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (DO)
Synonyms:exact_synonym: TS;   long QT syndrome with syndactyly
 narrow_synonym: TIMOTHY SYNDROME TYPE 1
 broad_synonym: CACNA1C-related disorder
 primary_id: MESH:C536962
 alt_id: OMIM:601005
 xref: GARD:9294;   ORDO:65283


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Timothy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO
IAGP		 DNA:missense mutations:exon:p.G406R, p.G402S (human)
CTD Direct Evidence: marker/mechanism
OMIM:601005
ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 More... RGD:1580173 NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      long QT syndrome 294
        Timothy syndrome 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              Neurodevelopmental Disorders 6891
                pervasive developmental disorder 2404
                  autism spectrum disorder 2389
                    autistic disorder 1871
                      Timothy syndrome 1
paths to the root