Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Zellweger Syndrome
Synonyms
Definitions

A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.
ID

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

C85239
Contributing_Source

Cellosaurus

NICHD
definition

A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C99147
label

Zellweger Syndrome
Preferred_Name

Zellweger Syndrome
prefixIRI

NCIT:C85239
prefLabel

Zellweger Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0043459
subClassOf

http://purl.obolibrary.org/obo/NCIT_C146639

http://purl.obolibrary.org/obo/NCIT_C28193
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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.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