OBO ID: DOID:0080133
Term Name: multiple mitochondrial dysfunctions syndrome 1 Search Ontology:
Synonyms:
  • NFU1 deficiency
Definition: A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. (5)
References:
Ontology: Human Disease   (DOID:0080133)
OTHER multiple mitochondrial dysfunctions syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NFU1 Multiple mitochondrial dysfunctions syndrome 1 605711
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None