{"_id":"MONDO:0019609","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"71160-24-2","chemical_name":"Leukotriene B4","direct_evidence":"marker/mechanism","mesh_chemical_id":"D007975","pubmed":"8356907","source":"CTD"},"mesh":"D015211","pathway_related_to_disease":[{"inference_gene_symbol":"HSD17B4","kegg_pathway_id":"hsa00120","pathway_name":"Primary bile acid biosynthesis","source":"CTD"},{"inference_gene_symbol":"HSD17B4","kegg_pathway_id":"hsa01100","pathway_name":"Metabolic pathways","source":"CTD"},{"inference_gene_symbol":"ABCD3","kegg_pathway_id":"hsa02010","pathway_name":"ABC transporters","source":"CTD"},{"inference_gene_symbol":["ABCD3","HSD17B4","PEX1","PEX10","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX6"],"kegg_pathway_id":"hsa04146","pathway_name":"Peroxisome","source":"CTD"},{"inference_gene_symbol":"HSD17B4","kegg_pathway_id":"hsa_M00104","pathway_name":"Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate","source":"CTD"},{"inference_gene_symbol":["ABCD3","PEX19","PEX3"],"pathway_name":"ABC transporters in lipid homeostasis","react_pathway_id":"R-HSA-1369062","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"Synthesis of bile acids and bile salts","react_pathway_id":"R-HSA-192105","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol","react_pathway_id":"R-HSA-193368","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"Bile acid and bile salt metabolism","react_pathway_id":"R-HSA-194068","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"alpha-linolenic (omega3) and linoleic (omega6) acid metabolism","react_pathway_id":"R-HSA-2046104","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"alpha-linolenic acid (ALA) metabolism","react_pathway_id":"R-HSA-2046106","source":"CTD"},{"inference_gene_symbol":["ABCD3","PEX19","PEX3"],"pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":["ABCD3","PEX19","PEX3"],"pathway_name":"ABC-family proteins mediated transport","react_pathway_id":"R-HSA-382556","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"Beta-oxidation of pristanoyl-CoA","react_pathway_id":"R-HSA-389887","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"Beta-oxidation of very long chain fatty acids","react_pathway_id":"R-HSA-390247","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"Peroxisomal lipid metabolism","react_pathway_id":"R-HSA-390918","source":"CTD"},{"inference_gene_symbol":"HSD17B4","pathway_name":"Metabolism of lipids and lipoproteins","react_pathway_id":"R-HSA-556833","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0014667","DOID:0050177","DOID:630","DOID:4","DOID:655","DOID:0050737","DOID:0080377","DOID:906","DOID:0050739"],"children":["DOID:0080476","DOID:0080477","DOID:0080478","DOID:0080479","DOID:0080480","DOID:0080481","DOID:0080482","DOID:0080483","DOID:0080484","DOID:0080485","DOID:0080486","DOID:0080487"],"def":"\"A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.\" [url:http\\://en.wikipedia.org/wiki/Zellweger_Syndrome, url:http\\://www.ninds.nih.gov/disorders/zellweger/zellweger.htm, url:http\\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912]","descendants":["DOID:0080482","DOID:0080481","DOID:0080479","DOID:0080484","DOID:0080487","DOID:0080480","DOID:0080483","DOID:0080486","DOID:0080476","DOID:0080477","DOID:0080485","DOID:0080478"],"doid":"DOID:905","name":"Zellweger syndrome","parents":["DOID:0050737","DOID:0080377"],"synonyms":{"exact":["cerebrohepatorenal syndrome","congenital iron overload"]},"xrefs":{"gard":"7917","icd10":"E71.510","mesh":"D015211","ncit":"C85239","ordo":"912","snomedct_us_2025_09_01":"88469006","umls_cui":"C0043459"}},"hpo":{"clinical_course":{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001522","hpo_name":"Death in infancy","original_disease_id":"orphanet:912","orphanet_refs":"ORPHA:912"},"disease_name":"Zellweger syndrome","orphanet":"912","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000377","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002093","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002240","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002353","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002652","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004322","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0005280","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0006829","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007957","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0008167","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0008872","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0010655","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012368","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012736","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100543","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000003","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000028","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000047","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000126","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000218","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000252","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000256","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000347","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000407","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000505","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000518","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000532","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000627","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000639","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000648","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001250","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001622","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002021","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002024","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002126","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0005469","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0008665","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0009891","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000157","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000474","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000501","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001088","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001629","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001928","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0008207","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000260","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000286","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000348","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000431","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000582","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000952","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001315","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001399","orphanet_refs":"orphanet:912"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001508","orphanet_refs":"orphanet:912"}]},"mondo":{"ancestors":["MONDO:0005559","MONDO:7770009","MONDO:0000001","MONDO:0002602","MONDO:7770007","MONDO:0020127","MONDO:0021147","MONDO:0019053","MONDO:0005244","MONDO:0019046","MONDO:0003620","MONDO:0019052","MONDO:7770008","MONDO:0005066","MONDO:0019755","MONDO:0019234","MONDO:0000429","MONDO:0005071","MONDO:7770006","MONDO:0019056","MONDO:0006025","MONDO:0015327","MONDO:0024237","MONDO:0100546","MONDO:0700096","MONDO:0003847","MONDO:0100545","MONDO:0002254"],"children":["MONDO:0013945","MONDO:0100259","MONDO:0100260","MONDO:0100261","MONDO:0100262","MONDO:0100263","MONDO:0100264","MONDO:0100266","MONDO:0100267","MONDO:0100268","MONDO:0100269","MONDO:0100270","MONDO:0100271","MONDO:0100279","MONDO:0800298"],"definition":"The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. [Orphanet:912]","descendants":["MONDO:0100264","MONDO:0013931","MONDO:0009959","MONDO:0100262","MONDO:0100266","MONDO:0013939","MONDO:0008954","MONDO:0013933","MONDO:0013943","MONDO:0013938","MONDO:0100271","MONDO:0100267","MONDO:0013927","MONDO:0013937","MONDO:0054549","MONDO:0100263","MONDO:0800298","MONDO:0013930","MONDO:0013948","MONDO:0013949","MONDO:0013952","MONDO:0800364","MONDO:0008736","MONDO:0100279","MONDO:0100259","MONDO:0100269","MONDO:0013932","MONDO:0013945","MONDO:0013951","MONDO:0008953","MONDO:0013967","MONDO:0013942","MONDO:0100268","MONDO:0100270","MONDO:0013936","MONDO:0013950","MONDO:0800365","MONDO:0100260","MONDO:0100261","MONDO:0011101"],"excluded_subClassOf":{"mondo":["MONDO:0005328"]},"label":"Zellweger spectrum disorders","mondo":"MONDO:0019609","parents":["MONDO:0015327","MONDO:0019234"],"synonym":{"exact":["cerebrohepatorenal syndrome","Zellweger spectrum disorders","Zellweger syndrome","ZS","ZWS"],"related":["Zellweger leukodystrophy"]},"xrefs":{"doid":["DOID:905"],"gard":["0007917"],"icd10cm":["E71.510"],"medgen":["21958"],"mesh":["D015211"],"nando":["1200760"],"ncit":["C85239"],"nord":["1876"],"orphanet":["772","912"],"sctid":["88469006"],"umls":["C0043459"]}},"original_id":["orphanet:912","UMLS:C0043459","UMLS:C0282526"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"preferred":"E71.510"},"mesh":{"non-preferred":"D015211","preferred":"D015211"},"nci":{"preferred":"C85239"},"snomed":{"non-preferred":"88469006","preferred":"88469006"},"umls":"C0043459"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D018901","preferred":"D018901"},"nci":{"non-preferred":"C125593"},"snomed":{"non-preferred":["13306007","190725003"],"preferred":"88469006"},"umls":"C0282526"}]}