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Dystonia Musculorum Deformans

http://purl.bioontology.org/ontology/MESH/D004422

A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

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Instance info

Synonyms

Dystonias, Torsion, Progressive Torsion Spasm, Dystonia musculorum deformans (DE), Torsionsdystonie (DE), Progressive Torsionsspasmen (DE), Torsionskrankheit während des Kindesalters (DE), Dystonia Deformans Musculorum, Dystonia Deformans Progressiva, Ziehen-Oppenheim-Syndrom (DE), Idiopathic Torsion Dystonia, Dystonias, Idiopathic Torsion, Oppenheim-Ziehen Disease, Idiopathische Torsionsdystonie (DE), Torsion Disease of Childhood, Dysbasia lordotica progressiva (DE), Spasm, Progressive Torsion, Torsion Dystonia, Idiopathic, Idiopathic Torsion Dystonias, Torsion Spasm, Progressive, Torsion Dystonia, Childhood Torsion Disease, Torsion Disease, Childhood, Oppenheim Ziehen Disease, Dystonia, Idiopathic Torsion

AQL

BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

19660101

D004421

MDA

19990101

MMR

20130708

C10.228.140.079.357,C16.320.400.330,C10.574.500.393,C10.228.662.300.200

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000151,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/D004421

SIB

http://purl.bioontology.org/ontology/MESH/D014103,http://purl.bioontology.org/ontology/MESH/D014402,http://purl.bioontology.org/ontology/MESH/D009472,http://purl.bioontology.org/ontology/MESH/D009477,http://purl.bioontology.org/ontology/MESH/D013132,http://purl.bioontology.org/ontology/MESH/D013494,http://purl.bioontology.org/ontology/MESH/D019578,http://purl.bioontology.org/ontology/MESH/D015418,http://purl.bioontology.org/ontology/MESH/D020192,http://purl.bioontology.org/ontology/MESH/D015417,http://purl.bioontology.org/ontology/MESH/D028227,http://purl.bioontology.org/ontology/MESH/D006816,http://purl.bioontology.org/ontology/MESH/D020144,http://purl.bioontology.org/ontology/MESH/D038261,http://purl.bioontology.org/ontology/MESH/D016098,http://purl.bioontology.org/ontology/MESH/D008538,http://purl.bioontology.org/ontology/MESH/D014897,http://purl.bioontology.org/ontology/MESH/D009224,http://purl.bioontology.org/ontology/MESH/D006211,http://purl.bioontology.org/ontology/MESH/D009223,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D017825,http://purl.bioontology.org/ontology/MESH/D005879,http://purl.bioontology.org/ontology/MESH/D020194,http://purl.bioontology.org/ontology/MESH/D020150,http://purl.bioontology.org/ontology/MESH/D054546,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D009459,http://purl.bioontology.org/ontology/MESH/D017253,http://purl.bioontology.org/ontology/MESH/D020279,http://purl.bioontology.org/ontology/MESH/D006527,http://purl.bioontology.org/ontology/MESH/D020734

TERMUI

T364120,T364118,T364117,T364116,T013486,T364115,T013484,T013485,T364119

GHR (2014),NLM (2000),NLM (1966),UNK (19XX)

cui

C0013423

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C538005,http://purl.bioontology.org/ontology/MESH/C538004,http://purl.bioontology.org/ontology/MESH/C536698,http://purl.bioontology.org/ontology/MESH/C538006,http://purl.bioontology.org/ontology/MESH/C538003,http://purl.bioontology.org/ontology/MESH/C538002

tui

T047

Instance relations

Types

Class