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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


show annotations for term's descendants           Sort by:
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 IAGP
ISS
EXP		 DNA:missense mutations:exon:p.G406R, p.G402S (human)
ClinVar Annotator: match by term: CACNA1C-related disorder
ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome
ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1
OMIM:601005
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 More... RGD:1580173 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Timothy syndrome
ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:20031608 PMID:20817017 PMID:22581653 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200 		JBrowse link
G CACNA1C-AS2 CACNA1C antisense RNA 2 IAGP ClinVar Annotator: match by term: CACNA1C-related disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr12:2,668,500...2,672,220
Ensembl chr12:2,668,500...2,672,220 		JBrowse link
G CACNA1C-AS4 CACNA1C antisense RNA 4 IAGP ClinVar Annotator: match by term: Timothy syndrome ClinVar NCBI chr12:2,220,537...2,223,481
Ensembl chr12:2,219,485...2,223,479 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      long QT syndrome 360
        Timothy syndrome 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              Neurodevelopmental Disorders 13563
                pervasive developmental disorder 6935
                  autism spectrum disorder 6920
                    autistic disorder 6255
                      Timothy syndrome 4
paths to the root