neuropathy, ataxia, and retinitis pigmentosa
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy
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neuropathy, ataxia, and retinitis pigmentosa
Summary
neuropathy, ataxia, and retinitis pigmentosa is a developmental defect during embryogenesis[1]. It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- neuropathy, ataxia, and retinitis pigmentosa's instance of is recorded as developmental defect during embryogenesis[3].
- neuropathy, ataxia, and retinitis pigmentosa's instance of is recorded as class of disease[4].
- neuropathy, ataxia, and retinitis pigmentosa is a type of mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA[5].
- neuropathy, ataxia, and retinitis pigmentosa is a type of neurometabolic disease[6].
- neuropathy, ataxia, and retinitis pigmentosa is a type of mitochondrial disease with epilepsy[7].
- neuropathy, ataxia, and retinitis pigmentosa is a type of mitochondrial disease with peripheral neuropathy[8].
- neuropathy, ataxia, and retinitis pigmentosa is a type of metabolic disease with pigmentary retinitis[9].
- neuropathy, ataxia, and retinitis pigmentosa is a type of mitochondrial disease with eye involvement[10].
- neuropathy, ataxia, and retinitis pigmentosa is a type of mitochondrial disease[11].
- neuropathy, ataxia, and retinitis pigmentosa's health specialty is recorded as neurology[12].
- neuropathy, ataxia, and retinitis pigmentosa's genetic association is recorded as ATP6[13].
- neuropathy, ataxia, and retinitis pigmentosa's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_644[14].
- neuropathy, ataxia, and retinitis pigmentosa's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111273[15].
- neuropathy, ataxia, and retinitis pigmentosa's exact match is recorded as http://identifiers.org/doid/DOID:0111273[16].
Why It Matters
neuropathy, ataxia, and retinitis pigmentosa has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[2] It is known by 5 alternative names across languages and contexts.[17]