loading...| Preferred Name |
peroxisome biogenesis disorder |
|
| Synonyms |
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 Zellweger spectrum PBD-Zellweger spectrum disorder disorders of peroxisome biogenesis Zellweger syndrome spectrum Zellweger spectrum disorder Zellweger spectrum disorders PBD-ZSS ZSD cerebrohepatorenal syndrome |
|
| 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). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019234 |
|
| database_cross_reference |
NANDO:2200575 SCTID:742876007 MESH:C531857 NCIT:C155747 DOID:0080377 MESH:C536664 OMIMPS:214100 NCIT:C146639 icd11.foundation:1919322367 Orphanet:79189 NANDO:1200759 GARD:11890 |
|
| 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). |
|
| exactMatch |
https://omim.org/phenotypicSeries/PS214100 http://identifiers.org/snomedct/742876007 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 |
|
| 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 |
|
| has_narrow_synonym |
cerebrohepatorenal syndrome |
|
| 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 |
|
| IAO_0000233 | ||
| id |
MONDO:0019234 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
peroxisome biogenesis disorder |
|
| notation |
MONDO:0019234 |
|
| prefLabel |
peroxisome biogenesis disorder |
|
| see also |
https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#peroxisomal |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019053 http://www.ebi.ac.uk/efo/EFO_1000017 http://purl.obolibrary.org/obo/MONDO_0019046 |