OBO ID: DOID:0112071
Term Name: nuclear type mitochondrial complex I deficiency 31 Search Ontology:
Synonyms:
  • MC1DN31
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMMDC1 on chromosome 3q13.33. https://pubmed.ncbi.nlm.nih.gov/28604674/
References:
Ontology: Human Disease   (DOID:0112071)
OTHER nuclear type mitochondrial complex I deficiency 31 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TIMMDC1 Mitochondrial complex I deficiency, nuclear type 31 618251
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None