OBO ID: DOID:0112068
Term Name: nuclear type mitochondrial complex I deficiency 5 Search Ontology:
Synonyms:
  • MC1DN5
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS1 on chromosome 2q33.3. https://pubmed.ncbi.nlm.nih.gov/11349233/
References:
Ontology: Human Disease   (DOID:0112068)
OTHER nuclear type mitochondrial complex I deficiency 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFS1 Mitochondrial complex I deficiency, nuclear type 5 618226
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None