OBO ID: DOID:0112096
Term Name: nuclear type mitochondrial complex I deficiency 16 Search Ontology:
Synonyms:
  • MC1DN16
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF5 on chromosome 20p12.1. https://pubmed.ncbi.nlm.nih.gov/18940309/
References:
Ontology: Human Disease   (DOID:0112096)
OTHER nuclear type mitochondrial complex I deficiency 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFAF5 Mitochondrial complex I deficiency, nuclear type 16 618238
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None