DO_rare_slim NCIthesaurus has material basis in has symptom autosomal recessive disease mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 1 GARD:9920 DOID:0080119 MESH:C536350 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. NCI:C119678 MIM:603041 ORDO:298 disease_ontology mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related autosomal recessive inheritance ptosis