OBO ID: DOID:0112066
Term Name: nuclear type mitochondrial complex I deficiency 6 Search Ontology:
Synonyms:
  • MC1DN6
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the NDUFS2 gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/11220739/
References:
Ontology: Human Disease   ( DOID:0112066 )
OTHER nuclear type mitochondrial complex I deficiency 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFS2 Mitochondrial complex I deficiency, nuclear type 6 618228
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None