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Preferred Name

MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
Synonyms

MC4DN1
ID

http://purl.bioontology.org/ontology/OMIM/220110
altLabel

MC4DN1

CYTOCHROME c OXIDASE DEFICIENCY

MITOCHONDRIAL COMPLEX IV DEFICIENCY

COX DEFICIENCY
cui

C0268237

C5435656
Gene Locus

9q34
Gene Symbol

MC4DN1

SURF1

CMT4K
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000553

http://purl.bioontology.org/ontology/OMIM/MTHU036362

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU071459

http://purl.bioontology.org/ontology/OMIM/MTHU021665

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU071460

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU042255

http://purl.bioontology.org/ontology/OMIM/MTHU001775

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU041732

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU008498

http://purl.bioontology.org/ontology/OMIM/MTHU042433

http://purl.bioontology.org/ontology/OMIM/MTHU036657

http://purl.bioontology.org/ontology/OMIM/MTHU024650

http://purl.bioontology.org/ontology/OMIM/MTHU012868

http://purl.bioontology.org/ontology/OMIM/MTHU065290

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU071461

http://purl.bioontology.org/ontology/OMIM/MTHU004739

http://purl.bioontology.org/ontology/OMIM/MTHU061712

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU000964
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

220110
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
Scope Statement

Death in childhood often occurs [MISCELLANEOUS]

Caused by mutation in the surfeit 1 gene (SURF1, 185620.0001) [MOLECULAR BASIS]

Onset usually between about 5 and 18 months [MISCELLANEOUS]

Rapidly progressive [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D030401 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176895 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM