OBO ID: DOID:0112083
Term Name: nuclear type mitochondrial complex I deficiency 2 Search Ontology:
Synonyms:
  • MC1DN2
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS8 on chromosome 11q13.2. https://pubmed.ncbi.nlm.nih.gov/9837812/
References:
Ontology: Human Disease   (DOID:0112083)
OTHER nuclear type mitochondrial complex I deficiency 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFS8 Mitochondrial complex I deficiency, nuclear type 2 618222
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None