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General Information
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| Term |
spinal muscular atrophy, Jokela type |
ID (Ontology) |
DOID:0081356 (Human Disease) |
| Definition |
A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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spinal muscular atrophy, Jokela type | 1 | 3 | 1 | for disease ribbon | spinal muscular atrophy, Jokela type | -- | 3 | -- | model of | spinal muscular atrophy, Jokela type | 1 | 3 | -- |
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Relationships