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Experimental Factor Ontology
| Preferred Name | peroxisome biogenesis disorder | |
| Synonyms |
cerebrohepatorenal syndrome Zellweger spectrum PBD-Zellweger spectrum disorder disorders of peroxisome biogenesis Zellweger syndrome spectrum Zellweger spectrum disorder Zellweger spectrum disorders PBD-ZSS ZSD peroxisome biogenesis disorder spectrum peroxisome biogenesis disorders, Zellweger syndrome spectrum peroxisomal biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder-Zellweger syndrome spectrum peroxisome biogenesis disorder peroxisomal biogenesis disorders PBD, ZSS 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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| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019234 |
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| database_cross_reference |
NANDO:2200575 SCTID:742876007 MESH:C531857 NCIT:C155747 DOID:0080377 MESH:C536664 OMIMPS:214100 NCIT:C146639 icd11.foundation:1919322367 Orphanet:79189 MEDGEN:330407 NANDO:1200759 UMLS:C1832200 GARD:11890
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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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| exactMatch |
https://omim.org/phenotypicSeries/PS214100 http://linkedlifedata.com/resource/umls/id/C1832200 http://identifiers.org/snomedct/742876007 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1919322367 http://purl.obolibrary.org/obo/NCIT_C146639 http://www.orpha.net/ORDO/Orphanet_79189 http://identifiers.org/mesh/C531857 http://purl.obolibrary.org/obo/NCIT_C155747 http://purl.obolibrary.org/obo/DOID_0080377 |
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| has_exact_synonym |
peroxisome biogenesis disorder spectrum peroxisome biogenesis disorders, Zellweger syndrome spectrum peroxisomal biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder-Zellweger syndrome spectrum peroxisome biogenesis disorder peroxisomal biogenesis disorders PBD, ZSS PBD-ZSD
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| has_narrow_synonym |
cerebrohepatorenal syndrome
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| has_related_synonym |
Zellweger spectrum PBD-Zellweger spectrum disorder disorders of peroxisome biogenesis Zellweger syndrome spectrum Zellweger spectrum disorder Zellweger spectrum disorders PBD-ZSS ZSD
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| IAO_0000233 | ||
| id |
MONDO:0019234
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#clingen http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
peroxisome biogenesis disorder
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|
| notation |
MONDO:0019234
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| preferred label |
peroxisome biogenesis disorder
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| prefLabel |
peroxisome biogenesis disorder
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| see also |
https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#peroxisomal |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019053 http://www.ebi.ac.uk/efo/EFO_1000017 http://purl.obolibrary.org/obo/MONDO_0019046 |
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