SHMARQL

Timothy syndrome

<http://www.wikidata.org/entity/Q3508705>

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
rdfs:label
"Timothy syndrome"@en
skos:altLabel
"LQT8"@en
"Long QT syndrome type 8"@en
"Long QT syndrome-syndactyly syndrome"@en
"Long Qt Syndrome With Syndactyly"@en
"TIMOTHY SYNDROME"@en
"TIMOTHY SYNDROME; TS"@en
"TS"@en
"long QT syndrome 8"@en
"obsolete Timothy syndrome"@en
schema:description
"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"@en
schema:dateModified "2026-10-24T00:29:26+00:00"^^xsd:dateTime
schema:version 2560166256
wikibase:identifiers 17
19
wikibase:sitelinks 11
wikibase:statements 46
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p:P14914 wd:statement/Q3508705-390BBE86-9348-4EF6-BB4E-B73E4ECC5A90
p:P1550 wd:statement/Q3508705-EDB88F36-B57F-4ED3-9E75-7AB9910F50D3
wd:statement/Q3508705-F4692D84-C4AC-48DC-9973-DAA1B9751D45
p:P1748 wd:statement/Q3508705-d9d81e00-4b56-42cf-c2f2-a5b1aae70ab3
p:P1995 wd:statement/Q3508705-2E1DADE7-5B85-4D1E-A8E4-857D6973FF02
p:P2293 wd:statement/Q3508705-1A434243-DC55-4DAA-AFE5-BE50353B130B
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wd:statement/Q3508705-A58F72E7-3F38-4D5A-9837-3047015798A7
wd:statement/Q3508705-B7F4CD70-26A1-4C14-B011-59FD78B0B64E
p:P2841 wd:statement/Q3508705-3B9E158B-314C-4D18-8CBB-4C56F4F8F6E6
wd:statement/Q3508705-7BB18263-2BA3-42E4-8669-5E50358A6AF8
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wd:statement/Q3508705-7226101E-BCCB-4305-938A-A64E6E0D35E8
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wd:statement/Q3508705-CDDD69C0-796C-4B7E-959B-1E7C9264EBFD
wd:statement/Q3508705-FEABC285-CF4F-40D7-9443-9ACD5B309C97
p:P2892 wd:statement/Q3508705-08A65928-17E4-4CCC-96B4-600721BB0DF2
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p:P373 wd:statement/Q3508705-186b8e0c-4fbc-735b-00b3-8c023dad37b8
p:P4229 wd:statement/Q3508705-3A1A0CD7-DE6B-43BE-AFB3-41E7FB5C44B2
wd:statement/Q3508705-CF91B6BC-D0F0-4249-B814-09ACCF70D607
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p:P486 wd:statement/Q3508705-59A60DC5-B9D2-4870-81D6-EFF292BE211E
p:P492 wd:statement/Q3508705-9D691605-78A1-41F5-9076-B706B27716D0
p:P5008 wd:statement/Q3508705-DA926E70-A461-4826-A0DE-61C538502AC8
p:P5270 wd:statement/Q3508705-689AEFC9-672D-4EA2-A4FC-549D4659FE65
p:P557 wd:statement/Q3508705-BAB66B6E-A529-4512-8423-D9D9B7B051EE
p:P6366 wd:statement/Q3508705-8A6A7E19-9B46-4A1C-9B17-4A2E7728F36D
p:P646 wd:statement/Q3508705-25BAC56D-A58F-4280-88F3-5F00C7AFD48B
p:P6532 wd:statement/Q3508705-E24B704B-ACC4-4D4A-B47B-DDDCE5B26E7C
wd:statement/Q3508705-EDFCC1DF-46AB-4A4A-902D-A4545476E09C
p:P699 wd:statement/Q3508705-7F347C12-ED3B-44B6-A8F3-97D4F254A137
wd:statement/Q3508705-D47BA98D-68C3-44CD-9C56-B5F8E5CD848B
p:P7464 wd:statement/Q3508705-5DFEA770-9B4B-4BBC-AFC0-68C65ACC346C
p:P780 wd:statement/Q3508705-1bf16c4b-4bfb-e1fc-149e-9e975a6980f3
wd:statement/Q3508705-737b49cc-4ed5-9ef6-6e9e-b5cb1f1169a2
wd:statement/Q3508705-8a3ba5cf-4fbe-4751-34c9-5a90fdf344bf
wd:statement/Q3508705-e8fa485c-476c-6def-33ef-9f9a91f985c9
wd:statement/Q3508705-f3bda678-49a6-f75c-40ff-1214387bf739
wd:statement/Q3508705-f7810dbc-423f-2522-b623-4dc39ebe15ac
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C536962>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010979>
p:direct-normalized/P6366 <https://makg.org/entity/2778802284>
wdt:P11143 "Timothy syndrome"
wdt:P11430 "DI-02370"
wdt:P1193 0.000001^^xsd:decimal
wdt:P138 Katherine Timothy
wdt:P14914 "D65283"
wdt:P1550 "65283"
"768"
wdt:P1748 "C142894"
wdt:P1995 neurology
wdt:P2293 CACNA1C
wdt:P279 syndrome
autosomal dominant disease
long QT syndrome
wdt:P2841 congenital onset
neonatal onset
wdt:P2888 <http://identifiers.org/doid/DOID:0060173>
<http://purl.obolibrary.org/obo/DOID_0060173>
<http://www.orpha.net/ORDO/Orphanet_65283>
<http://www.orpha.net/ORDO/Orphanet_768>
wdt:P2892 "C1832916"
wdt:P31 type of disease
rare disease
wdt:P373 "Timothy syndrome"
wdt:P4229 "G72.3"
"I45.8"
wdt:P4317 "9294"
wdt:P486 "C536962"
wdt:P492 "601005"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010979"
wdt:P557 "34006"
wdt:P6366 "2778802284"
wdt:P646 "/m/045b9s"
wdt:P6532 pneumonia
bronchitis
wdt:P7464 "timothy-syndrome"
wdt:P780 heart conduction disease
syncope
tachycardia
bradycardia
ventricular fibrillation
congenital heart disease
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