PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Zellweger Syndrome

Synonyms
Definitions

A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036703

Database_Cross_Reference

MSH:D015211

MTH:NOCODE

MTHICD9:277.86

SNOMEDCT_US:88469006

RCD:PKy94

OMIM:602136

NCI:C85239

ICD10CM:E71.510

CSP:1849-1804

MEDCIN:36915

DO:DOID:905

MDR:10053684

SNM:D-5096

OMIM:214100

CHV:0000013272

NCI_NICHD:C85239

MDR:10053706

NDFRT:N0000003205

SNMI:D4-00617

Definition

A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.

label

Zellweger Syndrome

MCID

MC00013800

PMOID

PMO:00036703

prefixIRI

pmo:PMO_00036703

prefLabel

Zellweger Syndrome

Synonym

Zellweger's Syndrome

Cerebro Hepato Renal Syndrome

CHRS

Zellweger syndrome (disorder)

zellweger's syndrome

Cerebro-Hepato-Renal Syndrome

ZWS

cerebrohepatorenal syndrome

syndrome zellweger

cerebrohepatorenal syndrome (Zellweger syndrome)

ZELLWEGER DIS

Zellweger syndrome

zellweger disease

congenital iron overload

zellwegers syndrome

PBD1A

Zellweger syndrome (diagnosis)

Zellweger Syndrome [Disease/Finding]

CEREBROHEPATORENAL SYNDROME

Cerebrohepatorenal Syndrome

Zellweger Disease

Zellweger's syndrome

ZS

PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)

peroxisome biogenesis disorder

zellweger syndrome

CHR

Cerebrohepatorenal syndrome

Tree Number

T9.11.1.6.2.25

T9.8.4.14.11.7

T9.8.4.14.8.25

T9.11.1.12.11.7

T9.1.4.23

T9.24.2.3.26

T9.11.1.12.8.25

T9.19.2.2.3.26

T9.21.15.5.17.2.25

T9.8.3.1.23

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00008023

http://www.phoc.org.cn/pmo/class/PMO_00037527

http://www.phoc.org.cn/pmo/class/PMO_00036942

http://www.phoc.org.cn/pmo/class/PMO_00038495

http://www.phoc.org.cn/pmo/class/PMO_00040090

http://www.phoc.org.cn/pmo/class/PMO_00036699

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Delete Mapping To Ontology Source
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://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