OBO ID: DOID:0111473 |
Term Name: | combined oxidative phosphorylation deficiency 5 | Search Ontology: | |
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Definition: | A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. (2) | ||
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Ontology: | Human Disease ( DOID:0111473 ) |
OTHER combined oxidative phosphorylation deficiency 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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