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General Information
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| Term |
autosomal dominant adult-onset proximal spinal muscular atrophy |
ID (Ontology) |
DOID:0111194 (Human Disease) |
| Definition |
A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. |
| Also Known As |
"autosomal dominant adult proximal spinal muscular atrophy" ; "autosomal dominant adult-onset proximal SMA" ; "autosomal dominant late-onset spinal muscular atrophy, Finkel type" (for all, see Synonyms field below) |
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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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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 5 | | 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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autosomal dominant adult-onset proximal spinal muscular atrophy | 5 | 3 | 1 | ameliorates | autosomal dominant adult-onset proximal spinal muscular atrophy | 2 | -- | -- | for disease ribbon | autosomal dominant adult-onset proximal spinal muscular atrophy | -- | 2 | -- | model of | autosomal dominant adult-onset proximal spinal muscular atrophy | 3 | 2 | -- |
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Relationships