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General Information
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| Term |
reducing body myopathy 1A |
ID (Ontology) |
DOID:0080090 (Human Disease) |
| Definition |
A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. |
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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 | 1 | | 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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reducing body myopathy 1A | 1 | 5 | 1 | for disease ribbon | reducing body myopathy 1A | -- | 4 | -- | model of | reducing body myopathy 1A | 1 | 4 | -- |
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Relationships