Search Ontology:
Human Disease
nuclear type mitochondrial complex I deficiency 1
- Term ID
- DOID:0112074
- Synonyms
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- MC1DN1
- Definition
- A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. (2)
- References
- Ontology
- Human Disease ( DOID:0112074 )
- is a type of
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