OBO ID: DOID:0112084
Term Name: nuclear type mitochondrial complex I deficiency 29 Search Ontology:
Synonyms:
  • MC1DN29
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126B on chromosome 11q14.1. https://pubmed.ncbi.nlm.nih.gov/27374773/
References:
Ontology: Human Disease   (DOID:0112084)
OTHER nuclear type mitochondrial complex I deficiency 29 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM126A Mitochondrial complex I deficiency, nuclear type 29 618250
TMEM126B Mitochondrial complex I deficiency, nuclear type 29 618250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None