Search Ontology:
Human Disease

mitochondrial complex V (ATP synthase) deficiency nuclear type 6

Term ID
DOID:0111749
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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