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Orphanet Rare Disease Ontology
| Preferred Name | Zellweger syndrome | |
| Synonyms |
Severe PBD-ZSD Cerebrohepatorenal syndrome ZS Severe peroxisome biogenesis disorder-Zellweger spectrum disorder |
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| Definitions |
A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_912 |
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| alternative_term |
Severe PBD-ZSD Cerebrohepatorenal syndrome ZS Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
|
|
| definition |
A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
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| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=912 |
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| has_age_of_onset |
Neonatal
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|
| has_inheritance |
Autosomal recessive
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| hasDbXref |
OMIM:614862 OMIM:614866 OMIM:614887 OMIM:614886 OMIM:614882 OMIM:614883 OMIM:617370 MedDRA:10053684 ICD-10:Q87.8 OMIM:614859 MeSH:D015211 OMIM:214100 ICD-11:5C57.0 OMIM:614870 OMIM:614876 OMIM:614872 OMIM:214110 UMLS:C0043459
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|
| label |
Zellweger syndrome
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|
| notation |
ORPHA:912
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|
| part_of |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_98650 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_79189 |
|
| prefixIRI |
ORDO:Orphanet_912
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|
| prefLabel |
Zellweger syndrome
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|
| present_in |
Specific population AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown Specific population AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000
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| treeView |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_98650 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_79189 |
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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