Preferred Name |
过氧化物酶体病 / Peroxisomal diseases |
Definitions |
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis. |
ID |
http://purl.bmicc.cn/ontology/ICD11CN/5C57 |
Coded_Elsewhere |
Glutaric aciduria type 3 (5C50.E0) Primary hyperoxaluria type 1 (5C51.20) Adrenoleukodystrophy (8A44.1) Rhizomelic chondrodysplasia punctata (LD24.04) |
definition |
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis. |
hasDbXref | |
label |
过氧化物酶体病 / Peroxisomal diseases |
mappingRelation | |
notation |
5C57 |
prefixIRI |
ICD11CN:C57 |
prefLabel |
过氧化物酶体病 / Peroxisomal diseases |
subClassOf |
Delete | Mapping To | Ontology | Source |
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There are currently no mappings for this class. |