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General Information
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| Term |
inclusion body myopathy and brain white matter abnormalities |
ID (Ontology) |
DOID:0081121 (Human Disease) |
| Definition |
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. |
| Also Known As |
"multisystem proteinopathy 6" |
| 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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No relevant records available
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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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| Genes |
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inclusion body myopathy and brain white matter abnormalities | 2 | for disease ribbon | inclusion body myopathy and brain white matter abnormalities | 2 | model of | inclusion body myopathy and brain white matter abnormalities | 2 |
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