FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial myopathy ID (Ontology) DOID:699 (Human Disease)
Definition A myopathy that is characterized by mitochondrial dysfunction.
Also Known As "mitochondrial cytopathy"
Comment
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Full annotation statements 
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 Alleles Genes
 mitochondrial myopathy       1      2
 for disease ribbon | mitochondrial myopathy       --       1
 model of | mitochondrial myopathy       1      1
Spanning Tree (Parents/Children)
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  muscle tissue disease
   |__myopathy
       |__mitochondrial myopathy  44 rec.
           |__chronic progressive external ophthalmoplegia 24 rec.
           |   |__autosomal dominant progressive external ophthalmoplegia 1 2 rec.
           |   |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 2 rec.
           |   |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 8 rec.
           |   |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 6 rec.
           |   |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 3 rec.
           |   |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 1 rec.
           |   |__autosomal recessive progressive external ophthalmoplegia 1 2 rec.
           |   |__autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1 rec.
           |   |__autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1 rec.
           |   |__autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1 rec.
           |   |__autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1 rec.
           |   |__Kearns-Sayre syndrome
           |__isolated mitochondrial myopathy 3 rec.
           |__mitochondrial encephalomyopathy 6 rec.
           |   |__MELAS syndrome
           |   |__MERRF syndrome
           |__myopathy, lactic acidosis, and sideroblastic anemia 8 rec.
               |__myopathy, lactic acidosis, and sideroblastic anemia 1 1 rec.
               |__myopathy, lactic acidosis, and sideroblastic anemia 2 6 rec.
               |__myopathy, lactic acidosis, and sideroblastic anemia 3
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Synonyms
  • "mitochondrial cytopathy" EXACT
Secondary IDs
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MESH:D017240
MIM:251900
NCI:C101328
SNOMEDCT_US_2023_03_01:240096000
UMLS_CUI:C0162670