Jump to:
Spinner 000000 16px loading...
Preferred Name

MITOCHONDRIAL DNA DEPLETION SYNDROME 17
Synonyms

MTDPS17
ID

http://purl.bioontology.org/ontology/OMIM/618567
altLabel

MTDPS17
cui

C5231412
Gene Locus

7p22
Gene Symbol

FTSJ2

MRM2

FJH1

MTDPS17
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003622

http://purl.bioontology.org/ontology/OMIM/MTHU002596

http://purl.bioontology.org/ontology/OMIM/MTHU001672

http://purl.bioontology.org/ontology/OMIM/MTHU055453

http://purl.bioontology.org/ontology/OMIM/MTHU066236

http://purl.bioontology.org/ontology/OMIM/MTHU066228

http://purl.bioontology.org/ontology/OMIM/MTHU066231

http://purl.bioontology.org/ontology/OMIM/MTHU066233

http://purl.bioontology.org/ontology/OMIM/MTHU066238

http://purl.bioontology.org/ontology/OMIM/MTHU066229

http://purl.bioontology.org/ontology/OMIM/MTHU037238

http://purl.bioontology.org/ontology/OMIM/MTHU066234

http://purl.bioontology.org/ontology/OMIM/MTHU037248

http://purl.bioontology.org/ontology/OMIM/MTHU066232

http://purl.bioontology.org/ontology/OMIM/MTHU066237

http://purl.bioontology.org/ontology/OMIM/MTHU066235

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU066244

http://purl.bioontology.org/ontology/OMIM/MTHU066230

http://purl.bioontology.org/ontology/OMIM/MTHU000136
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

618567
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MITOCHONDRIAL DNA DEPLETION SYNDROME 17
Scope Statement

No response to levodopa and carbidopa treatment [MISCELLANEOUS]

Death in childhood (age 7) [MISCELLANEOUS]

Progressive disease [MISCELLANEOUS]

One boy of Italian parentage has been reported (last curated September 2019) [MISCELLANEOUS]

Caused by mutation in the mitochondrial ribosomal RNA methyltransferase 2 gene (MRM2, 606906.0001) [MOLECULAR BASIS]

Onset in infancy (8 months) [MISCELLANEOUS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0070448 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0032815 Mondo Disease Ontology / Mondo疾病本体 LOOM