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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | peroxisome biogenesis disorder | |
| Synonyms |
cerebrohepatorenal syndrome PBD-ZSS PBD-Zellweger spectrum disorder Zellweger syndrome spectrum Zellweger spectrum disorders of peroxisome biogenesis ZSD Zellweger spectrum disorder Zellweger spectrum disorders peroxisome biogenesis disorder spectrum peroxisomal biogenesis disorders PBD, ZSS peroxisomal biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder-Zellweger syndrome spectrum peroxisome biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder PBD-ZSD |
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| Definitions |
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019234 |
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| altLabel |
cerebrohepatorenal syndrome PBD-ZSS PBD-Zellweger spectrum disorder Zellweger syndrome spectrum Zellweger spectrum disorders of peroxisome biogenesis ZSD Zellweger spectrum disorder Zellweger spectrum disorders peroxisome biogenesis disorder spectrum peroxisomal biogenesis disorders PBD, ZSS peroxisomal biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder-Zellweger syndrome spectrum peroxisome biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder PBD-ZSD
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| definition |
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).
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| has_exact_synonym |
peroxisome biogenesis disorder spectrum peroxisomal biogenesis disorders PBD, ZSS peroxisomal biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder-Zellweger syndrome spectrum peroxisome biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder PBD-ZSD
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| has_narrow_synonym |
cerebrohepatorenal syndrome
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| has_related_synonym |
PBD-ZSS PBD-Zellweger spectrum disorder Zellweger syndrome spectrum Zellweger spectrum disorders of peroxisome biogenesis ZSD Zellweger spectrum disorder Zellweger spectrum disorders
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| IAO_0000233 | ||
| label |
peroxisome biogenesis disorder
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| prefixIRI |
MONDO:0019234
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| prefLabel |
peroxisome biogenesis disorder
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| textual definition |
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019053 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0019046 |
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