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General Information
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| Term |
spinal muscular atrophy with lower extremity predominant 2A |
ID (Ontology) |
DOID:0070349 (Human Disease) |
| Definition |
A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. |
| Also Known As |
"spinal muscular atrophy with lower extremity predominance 2A" |
| 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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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 3 | | 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 with lower extremity predominant 2A | 3 | 1 | 1 | for disease ribbon | spinal muscular atrophy with lower extremity predominant 2A | -- | 1 | -- | model of | spinal muscular atrophy with lower extremity predominant 2A | 3 | 1 | -- |
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Relationships