{"_id":"MONDO:0007762","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"41859-67-0","chemical_name":"Bezafibrate","direct_evidence":"therapeutic","mesh_chemical_id":"D001629","pubmed":"906593","source":"CTD"},{"chemical_name":"Niacin","direct_evidence":"therapeutic","mesh_chemical_id":"D009525","pubmed":"906593","source":"CTD"}],"mesh":"D006954","pathway_related_to_disease":[{"inference_gene_symbol":"APOA5","kegg_pathway_id":"hsa03320","pathway_name":"PPAR signaling pathway","source":"CTD"},{"inference_gene_symbol":"APOA5","pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":"APOA5","pathway_name":"Chylomicron-mediated lipid transport","react_pathway_id":"R-HSA-174800","source":"CTD"},{"inference_gene_symbol":"APOA5","pathway_name":"Lipoprotein metabolism","react_pathway_id":"R-HSA-174824","source":"CTD"},{"inference_gene_symbol":"APOA5","pathway_name":"PPARA activates gene expression","react_pathway_id":"R-HSA-1989781","source":"CTD"},{"inference_gene_symbol":"APOA5","pathway_name":"Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)","react_pathway_id":"R-HSA-400206","source":"CTD"},{"inference_gene_symbol":"APOA5","pathway_name":"Fatty acid, triacylglycerol, and ketone body metabolism","react_pathway_id":"R-HSA-535734","source":"CTD"},{"inference_gene_symbol":"APOA5","pathway_name":"Metabolism of lipids and lipoproteins","react_pathway_id":"R-HSA-556833","source":"CTD"},{"inference_gene_symbol":"APOA5","pathway_name":"Lipid digestion, mobilization, and transport","react_pathway_id":"R-HSA-73923","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0050736","DOID:0014667","DOID:0050177","DOID:630","DOID:4","DOID:3146","DOID:655","DOID:1168","DOID:0111417","DOID:0050739"],"children":[],"def":"\"A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3.\" [url:https\\://www.ncbi.nlm.nih.gov/pubmed/16200213, url:https\\://www.ncbi.nlm.nih.gov/pubmed/23525082]","descendants":[],"doid":"DOID:0111421","name":"familial apolipoprotein A5 deficiency","parents":["DOID:0050736","DOID:0111417"],"synonyms":{"exact":["familial APOA5 deficiency","familial apolipoprotein A-V deficiency"]},"xrefs":{"ordo":"530849"}},"hpo":{"disease_name":"Hyperlipoproteinemia, type V","inheritance":{"biocuration":{"date":"2009-02-17","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","omim_refs":"OMIM:144650","original_disease_id":"OMIM:144650"},"omim":"144650","phenotype_related_to_disease":[{"biocuration":{"date":"2018-10-08","name":"HPO:skoehler"},"evidence":"IEA","hpo_id":"HP:0000819","omim_refs":"OMIM:144650","original_disease_id":"OMIM:144650"},{"biocuration":{"date":"2013-03-12","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0003233","omim_refs":"OMIM:144650","original_disease_id":"OMIM:144650"},{"biocuration":{"date":"2013-03-31","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0003563","omim_refs":"OMIM:144650","original_disease_id":"OMIM:144650"},{"biocuration":{"date":"2013-03-12","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0003362","omim_refs":"OMIM:144650","original_disease_id":"OMIM:144650"},{"biocuration":{"date":"2013-04-01","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0012238","omim_refs":"OMIM:144650","original_disease_id":"OMIM:144650"}]},"mondo":{"ancestors":["MONDO:0005066","MONDO:0001336","MONDO:7770007","MONDO:0700096","MONDO:7770009","MONDO:0021187","MONDO:0000001","MONDO:0003847","MONDO:0002525","MONDO:0019052","MONDO:7770008"],"definition":"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. [MESH:D006954]","has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/17288"]},"label":"hyperlipoproteinemia type V","mondo":"MONDO:0007762","parents":["MONDO:0001336"],"synonym":{"exact":["familial APOA5 deficiency","familial apolipoprotein A-V deficiency","familial apolipoprotein A5 deficiency","HLP type 5","major hyperlipidemia"],"related":["hyperchylomicronemia late onset","hyperlipemia combined fat and carbohydrate-induced","hyperlipemia mixed","hyperlipidemia type V","hyperlipoproteinemia type 5","mixed hyperlipemia","type V hyperlipoproteinemia"]},"xrefs":{"doid":["DOID:0111421","DOID:1171"],"gard":["0006704"],"meddra":["10060755"],"medgen":["5693"],"mesh":["D006954"],"omim":["144650"],"orphanet":["530849","70470"],"sctid":["34349009"],"umls":["C0020481"]}},"original_id":["UMLS:C0020481","UMLS:C3489395"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D006954","preferred":"D006954"},"nci":{"non-preferred":"C35645"},"snomed":{"non-preferred":["34349009","190781009"]},"umls":"C0020481"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"preferred":"D006954"},"umls":"C3489395"}]}