OBO ID: DOID:0111749
Term Name: mitochondrial complex V (ATP synthase) deficiency nuclear type 6 Search Ontology:
Synonyms:
  • MC5DN6
Definition: A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. https://www.ncbi.nlm.nih.gov/pubmed/29917077
References:
Ontology: Human Disease   ( DOID:0111749 )
OTHER mitochondrial complex V (ATP synthase) deficiency nuclear type 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP5MD Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 618683
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None