OBO ID: DOID:0112095
Term Name: nuclear type mitochondrial complex I deficiency 28 Search Ontology:
Synonyms:
  • MC1DN28
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA13 on chromosome 19p13.11. https://pubmed.ncbi.nlm.nih.gov/25901006/
References:
Ontology: Human Disease   (DOID:0112095)
OTHER nuclear type mitochondrial complex I deficiency 28 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFA13 ?Mitochondrial complex I deficiency, nuclear type 28 618249
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None