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.
rare disease | Q929833 |
class of disease | Q112193867 |
syndrome | Q179630 |
long QT syndrome | Q653924 |
autosomal dominant disease | Q18553439 |
P557 | DiseasesDB | 34006 |
P2888 | exact match | http://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 | ||
P646 | Freebase ID | /m/045b9s |
P4317 | GARD rare disease ID | 9294 |
P7464 | Genetics Home Reference Conditions ID | timothy-syndrome |
P4229 | ICD-10-CM | I45.8 |
G72.3 | ||
P486 | MeSH descriptor ID | C536962 |
P6366 | Microsoft Academic ID | 2778802284 |
P5270 | Mondo ID | MONDO_0010979 |
P1748 | NCI Thesaurus ID | C142894 |
P492 | OMIM ID | 601005 |
601005 | ||
P1550 | Orphanet ID | 768 |
65283 | ||
P2892 | UMLS CUI | C1832916 |
P11430 | UniProt disease ID | DI-02370 |
P11143 | WikiProjectMed ID | Timothy syndrome |
P2293 | genetic association | CACNA1C | Q14905744 |
P1995 | health specialty | neurology | Q83042 |
P138 | named after | Katherine Timothy | Q63380872 |
P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
P780 | symptoms and signs | syncope | Q180007 |
tachycardia | Q209583 | ||
bradycardia | Q217111 | ||
congenital heart disease | Q939364 | ||
Ventricular Fibrillation | Q848662 | ||
heart conduction disease | Q1361515 |