Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/616794
http://purl.bioontology.org/ontology/OMIM/616794
Preferred Name

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
Synonyms
COXPD28
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
COXPD28
prefLabel
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
Gene Symbol
COXPD28
SAMC
SLC25A26
Scope Statement
Highly variable severity [MISCELLANEOUS]
Caused by mutation in the solute carrier family 25 (mitochondrial carrier, phosphate carrier) member 26 gene (SLC25A26, 611037.0001) [MOLECULAR BASIS]
Both infantile and adult onset forms have been reported [MISCELLANEOUS]
type
Has manifestation
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/MTHU052863
http://purl.bioontology.org/ontology/OMIM/MTHU050706
http://purl.bioontology.org/ontology/OMIM/MTHU052864
http://purl.bioontology.org/ontology/OMIM/MTHU052857
http://purl.bioontology.org/ontology/OMIM/MTHU000964
http://purl.bioontology.org/ontology/OMIM/MTHU009765
http://purl.bioontology.org/ontology/OMIM/MTHU004882
http://purl.bioontology.org/ontology/OMIM/MTHU052859
http://purl.bioontology.org/ontology/OMIM/MTHU052865
http://purl.bioontology.org/ontology/OMIM/MTHU052858
http://purl.bioontology.org/ontology/OMIM/MTHU052856
http://purl.bioontology.org/ontology/OMIM/MTHU070135
http://purl.bioontology.org/ontology/OMIM/MTHU000966
http://purl.bioontology.org/ontology/OMIM/MTHU052862
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tui
T047
Gene Locus
3p14.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
616794
Semantic type UMLS property
Has inheritance type
cui
C5569081
OMIM Entry Type
3
OMIM MimType Value
pound
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