OBO ID: DOID:0112070
Term Name: nuclear type mitochondrial complex I deficiency 18 Search Ontology:
Synonyms:
  • MC1DN18
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF3 on chromosome 2p21.31. https://pubmed.ncbi.nlm.nih.gov/19463981/
References:
Ontology: Human Disease   (DOID:0112070)
OTHER nuclear type mitochondrial complex I deficiency 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFAF3 Mitochondrial complex I deficiency, nuclear type 18 618240
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None