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Mondo Disease 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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| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019234 |
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| database_cross_reference |
NANDO:1200759 MESH:C531857 icd11.foundation:1919322367 MESH:C536664 NANDO:2200575 NCIT:C146639 UMLS:C1832200 NCIT:C155747 MEDGEN:330407 Orphanet:79189 GARD:11890 SCTID:742876007 DOID:0080377 OMIMPS:214100
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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 | ||
| id |
MONDO:0019234
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
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| label |
peroxisome biogenesis disorder
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| notation |
MONDO:0019234
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| prefLabel |
peroxisome biogenesis disorder
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| seeAlso |
https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#peroxisomal |
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| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| skos_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://identifiers.org/mesh/C531857 http://purl.obolibrary.org/obo/NCIT_C155747 http://purl.obolibrary.org/obo/Orphanet_79189 http://purl.obolibrary.org/obo/DOID_0080377 |
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| treeView |
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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| 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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