OBO ID: DOID:0112097
Term Name: nuclear type mitochondrial complex I deficiency 33 Search Ontology:
Synonyms:
  • MC1DN33
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA6 on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/30245030/
References:
Ontology: Human Disease   (DOID:0112097)
OTHER nuclear type mitochondrial complex I deficiency 33 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFA6 Mitochondrial complex I deficiency, nuclear type 33 618253
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None