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| Term | mitochondrial DNA depletion syndrome 1 | ID (Ontology) | DOID:0080119 (Human Disease) |
| Definition | A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13. | ||
| Also Known As | "mitochondrial DNA depletion syndrome 1 (MNGIE type)" ; "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related" | ||
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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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autosomal genetic disease |__autosomal recessive disease___________ mitochondrial metabolism disease | |__mitochondrial DNA depletion syndrome__| mitochondrial DNA depletion syndrome 1 |
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| Is a |
autosomal recessive disease mitochondrial DNA depletion syndrome |
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GARD:9920 MESH:C536350 MIM:603041 NCI:C11967 ORDO:298 |
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