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General Information
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| Term |
myopathy with extrapyramidal signs |
ID (Ontology) |
DOID:0111335 (Human Disease) |
| Definition |
A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. |
| Also Known As |
"MPXPS" ; "proximal myopathy with extrapyramidal signs" |
| 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 | 2 | | 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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myopathy with extrapyramidal signs | 2 | 3 | 1 | ameliorates | myopathy with extrapyramidal signs | 1 | -- | -- | for disease ribbon | myopathy with extrapyramidal signs | -- | 2 | -- | model of | myopathy with extrapyramidal signs | 1 | 2 | -- |
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Relationships