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Metadata
ID DOID:0111748
Name mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
Definition A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.
https://www.ncbi.nlm.nih.gov/pubmed/1550128
Xrefs

OMIM:500015

Subsets

DO_rare_slim

Synonyms

MC5DM1 [EXACT]

Parent Relationships

is_a mitochondrial complex V (ATP synthase) deficiency

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