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Diseases
Spinal Muscular Atrophy, Jokela Type
spinal muscular atrophy, jokela type
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 5
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Spinal Muscular Atrophy, Jokela Type
- Standard Disease Name
- spinal muscular atrophy, jokela type
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C538007
- OMIM ID
- 128230
- UMLS ID
- C1851920
- HPO ID
- No data
Description and Extensions
- Description
- 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.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Candidate Herbs
target disease -> ingredient target -> herb ingredient1 Herbs