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Disease Ontology Browser
mitochondrial DNA depletion syndrome 1 (DOID:0080119)
Alliance: disease page
Synonyms: mitochondrial DNA depletion syndrome 1 (MNGIE type); mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Alt IDs: OMIM:603041, MESH:C536350, NCI:C11967, ORDO:298
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory