OBO ID: DOID:0112090
Term Name: nuclear type mitochondrial complex I deficiency 27 Search Ontology:
Synonyms:
  • MC1DN27
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. https://pubmed.ncbi.nlm.nih.gov/22499348/
References:
Ontology: Human Disease   ( DOID:0112090 )
OTHER nuclear type mitochondrial complex I deficiency 27 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTFMT Mitochondrial complex I deficiency, nuclear type 27 618248
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None