Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/616974
http://purl.bioontology.org/ontology/OMIM/616974
Preferred Name

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
Synonyms
COXPD30
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
COXPD30
prefLabel
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
Gene Symbol
MRPP1
RG9MTD1
COXPD30
TRMT10C
Scope Statement
Onset at birth [MISCELLANEOUS]
Two unrelated patients have been reported (last curated June 2016) [MISCELLANEOUS]
Death in infancy may occur [MISCELLANEOUS]
Caused by mutation in the tRNA methyltransferase 10C, mitochondrial RNase P subunit gene (TRMT10C, 615423.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU009766
http://purl.bioontology.org/ontology/OMIM/MTHU039059
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU036657
http://purl.bioontology.org/ontology/OMIM/MTHU002522
http://purl.bioontology.org/ontology/OMIM/MTHU000964
http://purl.bioontology.org/ontology/OMIM/MTHU001254
http://purl.bioontology.org/ontology/OMIM/MTHU031226
http://purl.bioontology.org/ontology/OMIM/MTHU024633
http://purl.bioontology.org/ontology/OMIM/MTHU004739
http://purl.bioontology.org/ontology/OMIM/MTHU013529
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU011914
http://purl.bioontology.org/ontology/OMIM/MTHU001330
http://purl.bioontology.org/ontology/OMIM/MTHU055582
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tui
T047
Gene Locus
3q12.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
616974
Semantic type UMLS property
Has inheritance type
cui
C5567605
OMIM Entry Type
3
OMIM MimType Value
pound
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