Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
MC5DM1 [EXACT] |
Parent Relationships |