loading...| Preferred Name | Zellweger syndrome | |
| Synonyms |
Cerebrohepatorenal syndrome ZS |
|
| Definitions |
Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_912 |
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| database_cross_reference |
OMIM:614862 OMIM:614866 OMIM:614887 OMIM:614886 OMIM:614882 OMIM:614883 MedDRA:10053706 ICD10:Q87.8 OMIM:614859 MeSH:D015211 OMIM:214100 OMIM:614870 OMIM:614876 OMIM:614872 OMIM:214110 UMLS:C0043459 |
|
| definition |
Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. |
|
| definition_citation |
orphanet |
|
| has_exact_synonym |
Cerebrohepatorenal syndrome ZS |
|
| label |
Zellweger syndrome |
|
| preferred label |
Zellweger syndrome |
|
| prefLabel |
Zellweger syndrome |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_98056 http://www.orpha.net/ORDO/Orphanet_98666 http://www.orpha.net/ORDO/Orphanet_98650 http://www.orpha.net/ORDO/Orphanet_183530 http://www.orpha.net/ORDO/Orphanet_79189 |