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Human Disease

nuclear type mitochondrial complex I deficiency 2

Term ID
DOID:0112083
Synonyms
  • MC1DN2
Definition
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. https://pubmed.ncbi.nlm.nih.gov/9837812/
References
Ontology
Human Disease   ( DOID:0112083 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models