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.
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
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