OBO ID: DOID:0111273 |
Term Name: | NARP syndrome | Search Ontology: | |
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Definition: | A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. https://www.ncbi.nlm.nih.gov/pubmed/2137962 | ||
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Ontology: | Human Disease ( DOID:0111273 ) |
OTHER NARP syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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