Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Zellweger syndrome

Synonyms

Severe PBD-ZSD

Definitions

A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ID

http://www.orpha.net/ORDO/Orphanet_912

alternative_term

Severe PBD-ZSD

Cerebrohepatorenal syndrome

ZS

Severe peroxisome biogenesis disorder-Zellweger spectrum disorder

definition

A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912

has_age_of_onset

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

OMIM:614862

OMIM:614866

OMIM:614887

OMIM:614886

OMIM:614882

OMIM:614883

OMIM:617370

MedDRA:10053684

ICD-10:Q87.8

OMIM:614859

MeSH:D015211

OMIM:214100

ICD-11:5C57.0

OMIM:614870

OMIM:614876

OMIM:614872

OMIM:214110

UMLS:C0043459

label

Zellweger syndrome

notation

ORPHA:912

part_of

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_98650

http://www.orpha.net/ORDO/Orphanet_93593

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

http://www.orpha.net/ORDO/Orphanet_79189

http://www.orpha.net/ORDO/Orphanet_225686

http://www.orpha.net/ORDO/Orphanet_139009

prefixIRI

ORDO:Orphanet_912

prefLabel

Zellweger syndrome

present_in

Specific population AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000

Israel AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000

Worldwide AND has_point_prevalence_range : Unknown

Specific population AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_98650

http://www.orpha.net/ORDO/Orphanet_93593

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

http://www.orpha.net/ORDO/Orphanet_79189

http://www.orpha.net/ORDO/Orphanet_225686

http://www.orpha.net/ORDO/Orphanet_139009

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_912 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_912 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_1200760 NANDO LOOM
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://purl.bioontology.org/ontology/MESH/D015211 MESH 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
http://www.gamuts.net/entity#Zellweger_syndrome 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://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://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
http://www.gamuts.net/entity#Zellweger_syndrome GAMUTS REST