OBO ID: DOID:0112076
Term Name: nuclear type mitochondrial complex I deficiency 13 Search Ontology:
Synonyms:
  • MC1DN13
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA2 on chromosome 5q31.3. https://pubmed.ncbi.nlm.nih.gov/18513682/
References:
Ontology: Human Disease   (DOID:0112076)
OTHER nuclear type mitochondrial complex I deficiency 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFA2 Mitochondrial complex I deficiency, nuclear type 13 618235
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None