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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/252010
http://purl.bioontology.org/ontology/OMIM/252010
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 |
| Synonyms |
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
NADH-COENZYME Q REDUCTASE DEFICIENCY
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
MC1DN1
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
NADH-COENZYME Q REDUCTASE DEFICIENCY
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
MC1DN1
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
|---|---|
| prefLabel |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
|
| Gene Symbol |
NDUFS4
AQDQ
MC1DN1
|
| notation |
252010
|
| Scope Statement |
Early death may occur [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the NADH-ubiquinone oxidoreductase subunit S4 gene (NDUFS4, 602694.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| Moved from |
312450
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
5q11.1
|
| tui |
T047
|
| cui |
C1838979
|
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