Timothy syndrome
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
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Timothy syndrome
Summary
Timothy syndrome is a rare disease[1]. It draws 73 Wikipedia views per month (rare_disease category, ranking #179 of 627).[2]
Key Facts
- Timothy syndrome's instance of is recorded as rare disease[3].
- Timothy syndrome's instance of is recorded as class of disease[4].
- Katherine Timothy is named after Timothy syndrome[5].
- Timothy syndrome's subclass of is recorded as autosomal dominant disease[6].
- Timothy syndrome's subclass of is recorded as long QT syndrome[7].
- Timothy syndrome's subclass of is recorded as syndrome[8].
- Timothy syndrome's Commons category is recorded as Timothy syndrome[9].
- Timothy syndrome's MeSH descriptor ID is recorded as C536962[10].
- Timothy syndrome's OMIM ID is recorded as 601005[11].
- Timothy syndrome's DiseasesDB is recorded as 34006[12].
- Timothy syndrome's Freebase ID is recorded as /m/045b9s[13].
- Timothy syndrome's symptoms and signs is recorded as heart conduction disease[14].
- Timothy syndrome's symptoms and signs is recorded as congenital heart disease[15].
- Timothy syndrome's symptoms and signs is recorded as syncope[16].
- Timothy syndrome's symptoms and signs is recorded as tachycardia[17].
- Timothy syndrome's symptoms and signs is recorded as bradycardia[18].
- Timothy syndrome's symptoms and signs is recorded as ventricular fibrillation[19].
- Timothy syndrome's Orphanet ID is recorded as 768[20].
- Timothy syndrome's Orphanet ID is recorded as 65283[21].
- Timothy syndrome's NCI Thesaurus ID is recorded as C142894[22].
- Timothy syndrome's health specialty is recorded as neurology[23].
- Timothy syndrome's genetic association is recorded as CACNA1C[24].
- Timothy syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060173[25].
- Timothy syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060173[26].
- Timothy syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_65283[27].
Why It Matters
Timothy syndrome draws 73 Wikipedia views per month (rare_disease category, ranking #179 of 627).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[28] It is known by 11 alternative names across languages and contexts.[29]