OBO ID: DOID:0112082
Term Name: nuclear type mitochondrial complex I deficiency 4 Search Ontology:
Synonyms:
  • MC1DN4
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV1 on chromosome 11q13.2. https://pubmed.ncbi.nlm.nih.gov/10080174/
References:
Ontology: Human Disease   (DOID:0112082)
OTHER nuclear type mitochondrial complex I deficiency 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFV1 Mitochondrial complex I deficiency, nuclear type 4 618225
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None