dystonia

Summary
Synonym
  • dystonic disease
Definition
A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
Super Class
movement disease
Disease Ontology
DOID:543
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
493 ATP2B4 ATPase plasma membrane Ca2+ transporting 4
590 BCHE butyrylcholinesterase
1861 TOR1A torsin family 1 member A
27348 TOR1B torsin family 1 member B
27433 TOR2A torsin family 2 member A
64222 TOR3A torsin family 3 member A
Displaying all 8 entries
Gene ID Gene Symbol Description Source
12038 Bche butyrylcholinesterase
14680 Gnal guanine nucleotide binding protein, alpha stimulating, olfactory type
18619 Penk preproenkephalin
30931 Tor1a torsin family 1, member A (torsin A)
30933 Tor2a torsin family 2, member A
30934 Tor1b torsin family 1, member B
30935 Tor3a torsin family 3, member A
381290 Atp2b4 ATPase, Ca++ transporting, plasma membrane 4
Displaying all 4 entries
Gene ID Gene Symbol Description Source
29237 Penk proenkephalin
266606 Tor1a torsin family 1, member A
304884 Tor3a torsin family 3, member A
362112 Tor2a torsin family 2, member A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
31399 Torsin torsin
41625 Ace Acetylcholine esterase
Displaying all 4 entries
Gene ID Gene Symbol Description Source
171905 ace-2 Carboxylic ester hydrolase
174433 ooc-5 Torsin-like protein
175076 ace-3 Carboxylic ester hydrolase
181706 ace-1 Acetylcholinesterase 1

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Last updated: December 9, 2024