Online Mendelian Inheritance in Man - MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/603041 http://purl.bioontology.org/ontology/OMIM/603041
Preferred Name	MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Synonyms	MNGIE, TYMP-RELATED MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME POLIP SYNDROME MTDPS1 POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MNGIE, TYMP-RELATED MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME POLIP SYNDROME MTDPS1 POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED See more See less
prefLabel	MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Gene Symbol	MTDPS1 PDECGF TYMP MNGIE ECGF1 MEDPS1 See more See less
Scope Statement	Onset in second to fifth decade [MISCELLANEOUS] Caused by mutation in the thymidine phosphorylase gene (TYMP, 131222.0001) [MOLECULAR BASIS] Early death in early adulthood often associated with diverticulitis and intestinal perforation [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU025378 http://purl.bioontology.org/ontology/OMIM/MTHU005163 http://purl.bioontology.org/ontology/OMIM/MTHU005164 http://purl.bioontology.org/ontology/OMIM/MTHU005173 http://purl.bioontology.org/ontology/OMIM/MTHU005166 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU036932 http://purl.bioontology.org/ontology/OMIM/MTHU005170 http://purl.bioontology.org/ontology/OMIM/MTHU005172 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU005165 http://purl.bioontology.org/ontology/OMIM/MTHU033344 http://purl.bioontology.org/ontology/OMIM/MTHU033348 http://purl.bioontology.org/ontology/OMIM/MTHU034460 http://purl.bioontology.org/ontology/OMIM/MTHU033352 http://purl.bioontology.org/ontology/OMIM/MTHU005168 http://purl.bioontology.org/ontology/OMIM/MTHU033351 http://purl.bioontology.org/ontology/OMIM/MTHU001420 http://purl.bioontology.org/ontology/OMIM/MTHU032440 http://purl.bioontology.org/ontology/OMIM/MTHU001673 http://purl.bioontology.org/ontology/OMIM/MTHU005174 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU033350 http://purl.bioontology.org/ontology/OMIM/MTHU026283 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU005171 http://purl.bioontology.org/ontology/OMIM/MTHU014943 http://purl.bioontology.org/ontology/OMIM/MTHU001039 http://purl.bioontology.org/ontology/OMIM/MTHU033347 http://purl.bioontology.org/ontology/OMIM/MTHU033349 http://purl.bioontology.org/ontology/OMIM/MTHU005162 http://purl.bioontology.org/ontology/OMIM/MTHU005167 http://purl.bioontology.org/ontology/OMIM/MTHU000700 http://purl.bioontology.org/ontology/OMIM/MTHU032437 http://purl.bioontology.org/ontology/OMIM/MTHU005169 See more See less
tui	T047
Gene Locus	22q13.32-qter
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	603041
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0872218 C4551995
Moved from	550900
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display