Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

Zellweger syndrome
Synonyms

ZWS

Zellweger leukodystrophy

ZS

cerebrohepatorenal syndrome

congenital iron overload

peroxisome biogenesis disorder
Definitions

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61
ID

http://purl.obolibrary.org/obo/MONDO_0019609
comment

Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61
database_cross_reference

SCTID:88469006

MESH:D015211

ICD10:E71.510

GARD:0007917

Orphanet:912

ICD10:Q87.8

UMLS:C0043459

NCIT:C85239

DOID:905
exactMatch

http://identifiers.org/mesh/D015211

http://purl.obolibrary.org/obo/NCIT_C85239

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

http://identifiers.org/snomedct/88469006

http://linkedlifedata.com/resource/umls/id/C0043459

http://purl.obolibrary.org/obo/DOID_905
has broad synonym

ZS
has exact synonym

cerebrohepatorenal syndrome

congenital iron overload

peroxisome biogenesis disorder
has related synonym

ZWS

Zellweger leukodystrophy
id

MONDO:0019609
imported from

http://purl.obolibrary.org/obo/mondo.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease
label

Zellweger syndrome
notation

MONDO:0019609
prefLabel

Zellweger syndrome
textual definition

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0016398

http://purl.obolibrary.org/obo/MONDO_0020281

http://purl.obolibrary.org/obo/MONDO_0019234

http://purl.obolibrary.org/obo/MONDO_0015327

http://purl.obolibrary.org/obo/MONDO_0020244

http://purl.obolibrary.org/obo/MONDO_0020227

http://purl.obolibrary.org/obo/MONDO_0020280

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0004884

http://purl.obolibrary.org/obo/MONDO_0019743
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0019609 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019609 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019609 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019609 EFO SAME_URI
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://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
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