loading...| Preferred Name |
peroxisome biogenesis disorder |
|
| Synonyms |
Zellweger syndrome spectrum Zellweger spectrum peroxisome biogenesis disorder spectrum PBD, ZSS ZSD Zellweger spectrum disorder peroxisome biogenesis disorders, Zellweger syndrome spectrum PBD-ZSD PBD-ZSS PBD-Zellweger spectrum disorder peroxisomal biogenesis disorders disorders of peroxisome biogenesis peroxisomal biogenesis disorders, Zellweger syndrome spectrum Zellweger spectrum disorders peroxisome biogenesis disorder-Zellweger syndrome spectrum cerebrohepatorenal syndrome |
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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). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019234 |
|
| database_cross_reference |
GARD:0011890 MESH:C531857 MESH:C536664 NCIT:C146639 Orphanet:79189 SCTID:742876007 DOID:0080377 OMIMPS:214100 GARD:0009473 |
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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C1832200 http://identifiers.org/snomedct/742876007 http://purl.obolibrary.org/obo/NCIT_C146639 http://www.orpha.net/ORDO/Orphanet_79189 http://identifiers.org/mesh/C531857 |
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| has exact synonym |
Zellweger syndrome spectrum Zellweger spectrum peroxisome biogenesis disorder spectrum PBD, ZSS ZSD Zellweger spectrum disorder peroxisome biogenesis disorders, Zellweger syndrome spectrum PBD-ZSD |
|
| has narrow synonym |
cerebrohepatorenal syndrome |
|
| has related synonym |
PBD-ZSS PBD-Zellweger spectrum disorder peroxisomal biogenesis disorders disorders of peroxisome biogenesis peroxisomal biogenesis disorders, Zellweger syndrome spectrum Zellweger spectrum disorders peroxisome biogenesis disorder-Zellweger syndrome spectrum |
|
| id |
MONDO:0019234 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
peroxisome biogenesis disorder |
|
| notation |
MONDO:0019234 |
|
| prefLabel |
peroxisome biogenesis disorder |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| 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). |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0019053 http://purl.obolibrary.org/obo/MONDO_0016133 http://purl.obolibrary.org/obo/MONDO_0006025 |