FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term isolated mitochondrial myopathy ID (Ontology) DOID:0081357 (Human Disease)
Definition A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
Also Known As "Autosomal dominant mitochondrial myopathy with exercise intolerance"
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 Genes
 isolated mitochondrial myopathy       3
 for disease ribbon | isolated mitochondrial myopathy       3
 model of | isolated mitochondrial myopathy       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
myopathy                        |
 |__mitochondrial myopathy______|
                                isolated mitochondrial myopathy  3 rec.
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Is a autosomal dominant disease
mitochondrial myopathy
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Synonyms
  • "Autosomal dominant mitochondrial myopathy with exercise intolerance" EXACT
Secondary IDs
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MIM:616209
ORDO:457050