Preferred Name

神经病变、共济失调和色素性视网膜炎 / Neuropathy, ataxia, and retinitis pigmentosa

Definitions

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous oxidative phosphorylation disorder often characterized by a combination of sensory-motor neuropathy, cerebellar ataxia, and night blindness.

ID

http://purl.bmicc.cn/ontology/ICD11CN/8C73.1

definition

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous oxidative phosphorylation disorder often characterized by a combination of sensory-motor neuropathy, cerebellar ataxia, and night blindness.

hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/2089784682

label

神经病变、共济失调和色素性视网膜炎 / Neuropathy, ataxia, and retinitis pigmentosa

mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/G71.3

notation

8C73.1

prefixIRI

ICD11CN:C73.1

prefLabel

神经病变、共济失调和色素性视网膜炎 / Neuropathy, ataxia, and retinitis pigmentosa

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/8C73

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http://purl.bioontology.org/ontology/MESH/C537396 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/551500 Online Mendelian Inheritance in Man LOOM