MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)

POLIP SYNDROME

http://purl.bioontology.org/ontology/OMIM/603041

POLIP SYNDROME

POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION

MNGIE, TYMP-RELATED

MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED

MTDPS1

C4551995

C0872218

22q13.32-qter

TYMP

ECGF1

MEDPS1

PDECGF

MNGIE

MTDPS1

http://purl.bioontology.org/ontology/OMIM/MTHU033352

http://purl.bioontology.org/ontology/OMIM/MTHU005164

http://purl.bioontology.org/ontology/OMIM/MTHU005168

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU005162

http://purl.bioontology.org/ontology/OMIM/MTHU014943

http://purl.bioontology.org/ontology/OMIM/MTHU005166

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU005174

http://purl.bioontology.org/ontology/OMIM/MTHU005172

http://purl.bioontology.org/ontology/OMIM/MTHU005170

http://purl.bioontology.org/ontology/OMIM/MTHU033348

http://purl.bioontology.org/ontology/OMIM/MTHU001420

http://purl.bioontology.org/ontology/OMIM/MTHU034460

http://purl.bioontology.org/ontology/OMIM/MTHU036932

http://purl.bioontology.org/ontology/OMIM/MTHU001039

http://purl.bioontology.org/ontology/OMIM/MTHU033351

http://purl.bioontology.org/ontology/OMIM/MTHU036657

http://purl.bioontology.org/ontology/OMIM/MTHU005167

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU005169

http://purl.bioontology.org/ontology/OMIM/MTHU005171

http://purl.bioontology.org/ontology/OMIM/MTHU005165

http://purl.bioontology.org/ontology/OMIM/MTHU005163

http://purl.bioontology.org/ontology/OMIM/MTHU032437

http://purl.bioontology.org/ontology/OMIM/MTHU005173

http://purl.bioontology.org/ontology/OMIM/MTHU025378

http://purl.bioontology.org/ontology/OMIM/MTHU032440

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU026283

http://purl.bioontology.org/ontology/OMIM/MTHU033349

http://purl.bioontology.org/ontology/OMIM/MTHU033347

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU033350

http://purl.bioontology.org/ontology/OMIM/MTHU033344

Phenotype description, molecular basis known.

550900

603041

3

pound

MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)

Caused by mutation in the thymidine phosphorylase gene (TYMP, 131222.0001) [MOLECULAR BASIS]

Onset in second to fifth decade [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

Early death in early adulthood often associated with diverticulitis and intestinal perforation [MISCELLANEOUS]

T047