DiseaseID 26080
多巴反应性肌张力障碍
Dystonia, Dopa-Responsive
SNOMEDCT_US_2016_09_01:A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkins
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Disease: 1Symptom: 1Target: 19Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26080
- Core Entity Id
- 118648
- Source Entity Count
- 1
- Preferred Name
- Dystonia, Dopa-Responsive
- Name Cn
- 多巴反应性肌张力障碍
- Name Pinyin
- Duo Ba Fan Ying Xing Ji Zhang Li Zhang Ai
- Name En
- Dystonia, Dopa-Responsive
- 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
- SNOMEDCT_US_2016_09_01:A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype.|NCI2016_02D:A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle contractions and other uncontrolled movements in the lower limbs that worsen with excercise and improve with rest.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dystonia, Dopa-Responsive
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1851920
Sym Map
SMDE01852
Etcm Disease
Dystonia, Dopa-Responsive
Itcmdb Generated
ITX-DISEASE-C01329384C61
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Dystonia, Dopa-Responsive Details page
Basic Information
Disease Name
Dystonia, Dopa-Responsive
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype.|NCI2016_02D:A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle contractions and other uncontrolled movements in the lower limbs that worsen with excercise and improve with rest.