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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/617873
http://purl.bioontology.org/ontology/OMIM/617873
Preferred Name

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
Synonyms
COXPD35
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
COXPD35
prefLabel
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
Gene Symbol
TRIT1
COXPD35
IPT
notation
617873
Scope Statement
Caused by mutation in the tRNA isopentenyltransferase 1 gene (TRIT1, 617840.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU036341
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU060808
http://purl.bioontology.org/ontology/OMIM/MTHU033932
http://purl.bioontology.org/ontology/OMIM/MTHU060809
http://purl.bioontology.org/ontology/OMIM/MTHU055355
http://purl.bioontology.org/ontology/OMIM/MTHU001674
http://purl.bioontology.org/ontology/OMIM/MTHU002980
http://purl.bioontology.org/ontology/OMIM/MTHU002761
http://purl.bioontology.org/ontology/OMIM/MTHU000394
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU003333
http://purl.bioontology.org/ontology/OMIM/MTHU046927
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU040979
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU070482
http://purl.bioontology.org/ontology/OMIM/MTHU003475
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
1p34.2
tui
T047
cui
C4693466
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