Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

Zellweger syndrome
Synonyms

cerebrohepatorenal syndrome

congenital iron overload

peroxisome biogenesis disorder

ZS

ZWS

Zellweger leukodystrophy
Definitions

Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 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.
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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http://purl.obolibrary.org/obo/MONDO_0019609 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019609 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019609 DOVES 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://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://www.orpha.net/ORDO/Orphanet_912 ORDO 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