Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Zellweger Syndrome
Synonyms	Zellweger-Like Syndrome Zellweger Syndrome Spectrum Zellweger Like Syndrome Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Cerebro Hepato Renal Syndrome Zellweger's Syndrome Cerebro-Hepato-Renal Syndrome Cerebrohepatorenal Syndrome PBD, ZSS Spectrum, Zellweger Zellweger Disease Zellweger Spectrum
Definitions	An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
ID	http://purl.bioontology.org/ontology/MESH/D015211
altLabel	Zellweger-Like Syndrome Zellweger Syndrome Spectrum Zellweger Like Syndrome Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Cerebro Hepato Renal Syndrome Zellweger's Syndrome Cerebro-Hepato-Renal Syndrome Cerebrohepatorenal Syndrome PBD, ZSS Spectrum, Zellweger Zellweger Disease Zellweger Spectrum
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0043459 C3658299 C0751594
DC	1
definition	An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
DX	19890101
HN	1989
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	1989
Mapped from	http://purl.bioontology.org/ontology/MESH/C531857 http://purl.bioontology.org/ontology/MESH/C565861 http://purl.bioontology.org/ontology/MESH/C535818
MDA	19880504
MMR	20210630
MN	C12.950.419.978 C16.320.565.663.970 C18.452.132.100.968 C06.552.970 C16.320.565.189.968 C16.131.077.970 C12.200.777.419.978 C18.452.648.663.970 C12.050.351.968.419.978 C10.228.140.163.100.968 C18.452.648.189.968
notation	D015211
prefLabel	Zellweger Syndrome
TERMUI	T842792 T843886 T842790 T044478 T370933 T044476 T842793 T044477 T370934 T044475
TH	OMIM (2013) NLM (2000) UNK (19XX) GHR (2014) NLM (1989) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D007674 http://purl.bioontology.org/ontology/MESH/D018901 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D020739 http://purl.bioontology.org/ontology/MESH/D008107

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/88469006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238064009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.510	ICD10CM	CUI
http://purl.bioontology.org/ontology/SCTSPA/88469006	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10053706	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10053684	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/PKy94	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10053684	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00617	SNMI	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003205	NDFRT	CUI
http://purl.bioontology.org/ontology/OMIM/214100	OMIM	CUI
http://purl.bioontology.org/ontology/CSP/1849-1804	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10053706	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D015211	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10053706	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10053684	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.541	ICD10CM	CUI
http://purl.bioontology.org/ontology/SCTSPA/238064009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D015211	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X40Wk	RCD	CUI
http://purl.obolibrary.org/obo/DOID_905	DOID	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/88469006	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/OMIT_0016002	OMIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0043459	OCHV	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.510	ICD10CM	LOOM
http://purl.obolibrary.org/obo/MONDO_0019609	KTAO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.970	RH-MESH	LOOM
http://purl.obolibrary.org/obo/NCIT_C85239	BERO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.978	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.680.970	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.680.970	RH-MESH	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_905	NATPRO	LOOM
rgo:12381	GAMUTS	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#13272	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.663.970	RH-MESH	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00617	SNMI	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_8	HAMIDEHSGH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.663.970	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85239	NCIT	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036703	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.680.970	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_912	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_912	ORDO	LOOM
http://www.orpha.net/ORDO/Orphanet_912	EFO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.978	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_225	HRDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Zellweger_Syndrome	CSEO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.680.970	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.552.970	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906044526935644	IOBC	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Zellweger_Syndrome	PEDTERM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D015211	RH-MESH	LOOM
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10053706	MEDDRA	LOOM
http://purl.obolibrary.org/obo/DOID_905	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_905	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_905	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_905	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_905	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_905	FNS-H	LOOM