MC4DN1
COX DEFICIENCY
MITOCHONDRIAL COMPLEX IV DEFICIENCY
CYTOCHROME c OXIDASE DEFICIENCY
http://purl.bioontology.org/ontology/OMIM/220110
C5435656
C0268237
9q34
SURF1
CMT4K
http://purl.bioontology.org/ontology/OMIM/MTHU001775
http://purl.bioontology.org/ontology/OMIM/MTHU071461
http://purl.bioontology.org/ontology/OMIM/MTHU041732
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000553
http://purl.bioontology.org/ontology/OMIM/MTHU036657
http://purl.bioontology.org/ontology/OMIM/MTHU021665
http://purl.bioontology.org/ontology/OMIM/MTHU065290
http://purl.bioontology.org/ontology/OMIM/MTHU042255
http://purl.bioontology.org/ontology/OMIM/MTHU042433
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU000964
http://purl.bioontology.org/ontology/OMIM/MTHU036362
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU004882
http://purl.bioontology.org/ontology/OMIM/MTHU000195
http://purl.bioontology.org/ontology/OMIM/MTHU012868
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU071460
http://purl.bioontology.org/ontology/OMIM/MTHU004739
http://purl.bioontology.org/ontology/OMIM/MTHU024650
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU008498
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU071459
Phenotype description, molecular basis known.
220110
3
pound
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
Rapidly progressive [MISCELLANEOUS]
Onset usually between about 5 and 18 months [MISCELLANEOUS]
Death in childhood often occurs [MISCELLANEOUS]
Caused by mutation in the surfeit 1 gene (SURF1, 185620.0001) [MOLECULAR BASIS]
T047
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