FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term mitochondrial DNA depletion syndrome 20 ID (Ontology) DOID:0070451 (Human Disease)
Definition A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12.
Also Known As "mitochondrial DNA depletion syndrome 20 (MNGIE type)"
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 mitochondrial DNA depletion syndrome 20       1
 for disease ribbon | mitochondrial DNA depletion syndrome 20       1
 model of | mitochondrial DNA depletion syndrome 20       1
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autosomal genetic disease
 |__autosomal recessive disease___________
mitochondrial metabolism disease          |
 |__mitochondrial DNA depletion syndrome__|
                                          mitochondrial DNA depletion syndrome 20  1 rec.
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Is a autosomal recessive disease
mitochondrial DNA depletion syndrome
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Synonyms
  • "mitochondrial DNA depletion syndrome 20 (MNGIE type)" EXACT
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MIM:619780