Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Mitochondrial DNA depletion syndrome 1, MNGIE type
Synonyms	MTDPS1
Definitions	(MTDPS1) - A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.
ID	http://identifiers.org/omim/603041
altLabel	MTDPS1
definition	(MTDPS1) - A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.
id	OMIM:603041
notation	OMIM:603041
prefLabel	Mitochondrial DNA depletion syndrome 1, MNGIE type
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://identifiers.org/omim/603041	GEXO	SAME_URI
http://identifiers.org/omim/603041	RETO	SAME_URI
http://identifiers.org/omim/603041	GEXO	LOOM
http://identifiers.org/omim/603041	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/603041	OMIM	LOOM