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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/220110
http://purl.bioontology.org/ontology/OMIM/220110
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
| Synonyms |
MC4DN1
COX DEFICIENCY
MITOCHONDRIAL COMPLEX IV DEFICIENCY
CYTOCHROME c OXIDASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MC4DN1
COX DEFICIENCY
MITOCHONDRIAL COMPLEX IV DEFICIENCY
CYTOCHROME c OXIDASE DEFICIENCY
|
|---|---|
| prefLabel | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
|
| Gene Symbol |
SURF1
CMT4K
MC4DN1
|
| Scope Statement | 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]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9q34
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 220110
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5435656
C0268237
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |