loading...| Preferred Name |
过氧化物酶体生物合成异常 / Disorders of peroxisome biogenesis |
| Definitions |
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/5C57.0 |
| definition |
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. |
| hasDbXref | |
| label |
过氧化物酶体生物合成异常 / Disorders of peroxisome biogenesis |
| mappingRelation | |
| notation |
5C57.0 |
| prefixIRI |
ICD11CN:C57.0 |
| prefLabel |
过氧化物酶体生物合成异常 / Disorders of peroxisome biogenesis |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/ICD10CM/E71.51 | International Classification of Diseases, Version 10 - Clinical Modification | LOOM |