OBO ID: DOID:0111749 |
Term Name: | mitochondrial complex V (ATP synthase) deficiency nuclear type 6 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111749 ) |
OTHER mitochondrial complex V (ATP synthase) deficiency nuclear type 6 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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