OBO ID: DOID:0112088
Term Name: nuclear type mitochondrial complex I deficiency 21 Search Ontology:
Synonyms:
  • MC1DN21
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12. https://pubmed.ncbi.nlm.nih.gov/20818383/
References:
Ontology: Human Disease   (DOID:0112088)
OTHER nuclear type mitochondrial complex I deficiency 21 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NUBPL Mitochondrial complex I deficiency, nuclear type 21 618242
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None