|OBO ID: DOID:0080119|
|Term Name:||mitochondrial DNA depletion syndrome 1||Search Ontology:|
|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 autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. (5)|
|Ontology:||Human Disease (DOID:0080119)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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