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 | |
label |
神经病变、共济失调和色素性视网膜炎 / Neuropathy, ataxia, and retinitis pigmentosa |
mappingRelation | |
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 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C537396 | Medical Subject Headings | LOOM | |
http://purl.bioontology.org/ontology/OMIM/551500 | Online Mendelian Inheritance in Man | LOOM |