DiseaseID 25760
常染色体隐性遗传扭转性肌张力障碍2型
Dystonia 2, Torsion, Autosomal Recessive
NCI2016_02D:An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting i
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Disease: 1Herb: 3Target: 18Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25760
- Core Entity Id
- 118328
- Source Entity Count
- 1
- Preferred Name
- Dystonia 2, Torsion, Autosomal Recessive
- Name Cn
- 常染色体隐性遗传扭转性肌张力障碍2型
- Name Pinyin
- Chang Ran Se Ti Yin Xing Yi Chuan Niu Zhuan Xing Ji Zhang Li Zhang Ai 2 Xing
- Name En
- Dystonia 2, Torsion, Autosomal Recessive
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting initially distal limbs and later the neck, orofacial, and craniocervical regions.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dystonia 2, Torsion, Autosomal Recessive
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1857093
Sym Map
SMDE00231
Etcm Disease
Dystonia 2, Torsion, Autosomal Recessive
Itcmdb Generated
ITX-DISEASE-F832C3FC5007
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Dystonia 2, Torsion, Autosomal Recessive Details page
Basic Information
Disease Name
Dystonia 2, Torsion, Autosomal Recessive
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases
Disease Definition
NCI2016_02D:An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting initially distal limbs and later the neck, orofacial, and craniocervical regions.