OBO ID: DOID:0112091
Term Name: nuclear type mitochondrial complex I deficiency 34 Search Ontology:
Synonyms:
  • MC1DN34
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF8 on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/31866046/
References:
Ontology: Human Disease   (DOID:0112091)
OTHER nuclear type mitochondrial complex I deficiency 34 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFAF8 Mitochondrial complex I deficiency, nuclear type 34 618776
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None