Timothy syndrome

An autosomal dominant disease 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.

DBpedia resource is: http://dbpedia.org/resource/Timothy_syndrome

Abstract is: Timothy syndrome is a rare autosomal-dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes), and autism spectrum disorders. Timothy syndrome sometimes leads to death in early childhood.

Wikimedia Commons category is Timothy syndrome

Timothy syndrome is …
instance of (P31):
rare diseaseQ929833
class of diseaseQ112193867

sublass of (P279):
syndromeQ179630
long QT syndromeQ653924
autosomal dominant diseaseQ18553439

External links are
P557DiseasesDB34006
P2888exact matchhttp://www.orpha.net/ORDO/Orphanet_768
http://identifiers.org/doid/DOID:0060173
http://purl.obolibrary.org/obo/DOID_0060173
http://www.orpha.net/ORDO/Orphanet_65283
P646Freebase ID/m/045b9s
P4317GARD rare disease ID9294
P7464Genetics Home Reference Conditions IDtimothy-syndrome
P4229ICD-10-CMI45.8
G72.3
P486MeSH descriptor IDC536962
P6366Microsoft Academic ID2778802284
P5270Mondo IDMONDO_0010979
P1748NCI Thesaurus IDC142894
P492OMIM ID601005
601005
P1550Orphanet ID768
65283
P2892UMLS CUIC1832916
P11430UniProt disease IDDI-02370
P11143WikiProjectMed IDTimothy syndrome

P2293genetic associationCACNA1CQ14905744
P1995health specialtyneurologyQ83042
P138named afterKatherine TimothyQ63380872
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686
P780symptoms and signssyncopeQ180007
tachycardiaQ209583
bradycardiaQ217111
congenital heart diseaseQ939364
Ventricular FibrillationQ848662
heart conduction diseaseQ1361515