OBO ID: DOID:0112074
Term Name: nuclear type mitochondrial complex I deficiency 1 Search Ontology:
Synonyms:
  • MC1DN1
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS4 on chromosome 5q11.2. (2)
References:
Ontology: Human Disease   (DOID:0112074)
OTHER nuclear type mitochondrial complex I deficiency 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFS4 Mitochondrial complex I deficiency, nuclear type 1 252010
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None