OBO ID: DOID:0112078
Term Name: nuclear type mitochondrial complex I deficiency 17 Search Ontology:
Synonyms:
  • MC1DN17
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF6 on chromosome 8q22.1. https://pubmed.ncbi.nlm.nih.gov/18614015/
References:
Ontology: Human Disease   (DOID:0112078)
OTHER nuclear type mitochondrial complex I deficiency 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFAF6 Mitochondrial complex I deficiency, nuclear type 17 618239
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None