mitochondrial DNA depletion syndrome 1

Human disease
rdfs:label
"mitochondrial DNA depletion syndrome 1"@en
skos:altLabel "MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)"@en
"MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1"@en
"MTDPS1"@en
"Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related"@en
"Mngie, Tymp-Related"@en
"Myoneurogastrointestinal Encephalopathy Syndrome"@en
"Polip Syndrome"@en
"Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudoobstruction"@en
"mitochondrial DNA depletion syndrome type 1"@en
"mitochondrial neurogastrointestinal encephalopathy"@en
"mitochondrial neurogastrointestinal encephalopathy disease"@en
"mitochondrial neurogastrointestinal encephalopathy syndrome"@en
schema:description
"Human disease"@en
schema:dateModified "2026-07-05T13:20:47+00:00"^^xsd:dateTime
schema:version 2514134185
wikibase:identifiers 14
wikibase:sitelinks 6
wikibase:statements 26
p:P11143 wd:statement/Q6881876-91AC4DE6-DA20-4D45-83F3-A5DC24CD4F69
p:P11430 wd:statement/Q6881876-abe7495c-4520-1299-33a6-28828dc6fbd0
p:P1550 wd:statement/Q6881876-A6B867CE-5839-4622-A893-341049EB36C5
p:P1748 wd:statement/Q6881876-AE96DE71-D562-4D26-AB4C-136A892A9799
p:P2293 wd:statement/Q6881876-3ACCDA11-08F1-4362-85DD-F1B03FCBB54B
p:P279 wd:statement/Q6881876-0F5255DF-6A38-4C3B-8F9C-1484CAA7B177
wd:statement/Q6881876-A41D1D66-CAEC-422C-8228-3468ACCC689D
wd:statement/Q6881876-A9902DFB-0C12-4992-A8FB-B5E54AC85EB7
p:P2888 wd:statement/Q6881876-0C6AE609-FCFB-4880-A6B8-21D93FA3DFEF
wd:statement/Q6881876-80F34FE1-E336-4F3A-B349-B2C59B310F40
wd:statement/Q6881876-815C609E-94D0-4E77-B38E-7C2012B5B1B8
p:P2892 wd:statement/Q6881876-45CD705E-EB1A-428C-A10E-3425D40F1664
p:P31 wd:statement/Q6881876-2AF772EF-D97B-4B80-9F3F-4FED04C84229
wd:statement/Q6881876-5013A7AA-5A96-4A1F-89E1-80DB91CA32EE
p:P4317 wd:statement/Q6881876-D003CE2C-C1A5-4E08-847B-9FB78002A29C
p:P486 wd:statement/Q6881876-940834C5-6ACA-4D07-9044-1943ED01F5B4
p:P492 wd:statement/Q6881876-84EAD673-5F23-4927-AE02-D5661DD6CCFF
p:P493 wd:statement/q6881876-CC2CEAAC-FC4B-4979-A278-ECE19B699BD0
p:P5008 wd:statement/Q6881876-1E92298F-6308-43A1-AE9F-1659BAE14533
p:P5270 wd:statement/Q6881876-2BC63BBF-7C58-42FE-A323-9F2F61F47AC4
p:P557 wd:statement/Q6881876-E3DDEFDA-B6F7-4E2E-966B-F1C204A10038
p:P6366 wd:statement/Q6881876-CE7F2194-46BE-4676-AAEB-8BF03B944221
wd:statement/Q6881876-FEADF811-B66A-4A36-9272-AC2680FD1084
p:P699 wd:statement/Q6881876-C2016298-3853-4188-8A51-3AD6309D83D5
p:P7464 wd:statement/Q6881876-455A7005-EE5C-4A2D-8182-A25C04DA8B9A
p:P780 wd:statement/Q6881876-1106841C-7BBB-415E-A893-41F4A8386D01
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C536350>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0011283>
p:direct-normalized/P6366 <https://makg.org/entity/2777972271>
<https://makg.org/entity/2911048558>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0080119>
wdt:P11143 "Mitochondrial neurogastrointestinal encephalopathy syndrome"
wdt:P11430 "DI-01984"
wdt:P1550 "298"
wdt:P1748 "C11967"
wdt:P2293 TYMP
wdt:P279 autosomal recessive disease
mitochondrial DNA depletion syndrome
wdt:P2888 <http://identifiers.org/doid/DOID:0080119>
<http://purl.obolibrary.org/obo/DOID_0080119>
<http://www.orpha.net/ORDO/Orphanet_298>
wdt:P2892 "C0872218"
wdt:P31 type of disease
rare disease
wdt:P4317 "9920"
wdt:P486 "C536350"
wdt:P492 "603041"
wdt:P493 "277.87"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0011283"
wdt:P557 "32948"
wdt:P6366 "2777972271"
"2911048558"
wdt:P699 "DOID:0080119"
wdt:P7464 "mitochondrial-neurogastrointestinal-encephalopathy-disease"
wdt:P780 ptosis
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