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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618222
http://purl.bioontology.org/ontology/OMIM/618222
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 |
| Synonyms |
MC1DN2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MC1DN2
|
|---|---|
| prefLabel | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
|
| Gene Symbol |
MC1DN2
NDUFS8
|
| Scope Statement | Onset in early infancy or childhood [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the NADH-ubiquinone oxidoreductase core subunit S8 gene (NDUFS8, 602141.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618222
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748737
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |