{"_id":"MONDO:0016244","_version":1,"ctd":{"chemical_related_to_disease":{"chemical_name":"Gemcitabine","direct_evidence":"marker/mechanism","mesh_chemical_id":"D000093542","pubmed":"19816959","source":"CTD"},"mesh":"D065766","pathway_related_to_disease":[{"inference_gene_symbol":"DGKE","kegg_pathway_id":"hsa00561","pathway_name":"Glycerolipid metabolism","source":"CTD"},{"inference_gene_symbol":"DGKE","kegg_pathway_id":"hsa00564","pathway_name":"Glycerophospholipid metabolism","source":"CTD"},{"inference_gene_symbol":"DGKE","kegg_pathway_id":"hsa01100","pathway_name":"Metabolic pathways","source":"CTD"},{"inference_gene_symbol":"DGKE","kegg_pathway_id":"hsa04070","pathway_name":"Phosphatidylinositol signaling system","source":"CTD"},{"inference_gene_symbol":"DGKE","kegg_pathway_id":"hsa04072","pathway_name":"Phospholipase D signaling pathway","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa04145","pathway_name":"Phagosome","source":"CTD"},{"inference_gene_symbol":["C3","CD46","CFB","CFH","CFI","THBD"],"kegg_pathway_id":"hsa04610","pathway_name":"Complement and coagulation cascades","source":"CTD"},{"inference_gene_symbol":"THBD","kegg_pathway_id":"hsa04933","pathway_name":"AGE-RAGE signaling pathway in diabetic complications","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa05133","pathway_name":"Pertussis","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa05134","pathway_name":"Legionellosis","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa05140","pathway_name":"Leishmaniasis","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa05142","pathway_name":"Chagas disease (American trypanosomiasis)","source":"CTD"},{"inference_gene_symbol":["C3","CFB","CFH","CFI"],"kegg_pathway_id":"hsa05150","pathway_name":"Staphylococcus aureus infection","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa05152","pathway_name":"Tuberculosis","source":"CTD"},{"inference_gene_symbol":"CD46","kegg_pathway_id":"hsa05162","pathway_name":"Measles","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa05168","pathway_name":"Herpes simplex infection","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa05203","pathway_name":"Viral carcinogenesis","source":"CTD"},{"inference_gene_symbol":"DGKE","kegg_pathway_id":"hsa05231","pathway_name":"Choline metabolism in cancer","source":"CTD"},{"inference_gene_symbol":"C3","kegg_pathway_id":"hsa05322","pathway_name":"Systemic lupus erythematosus","source":"CTD"},{"inference_gene_symbol":"THBD","kegg_pathway_id":"hsa05418","pathway_name":"Fluid shear stress and atherosclerosis","source":"CTD"},{"inference_gene_symbol":["DGKE","THBD"],"pathway_name":"Hemostasis","react_pathway_id":"R-HSA-109582","source":"CTD"},{"inference_gene_symbol":"DGKE","pathway_name":"Effects of PIP2 hydrolysis","react_pathway_id":"R-HSA-114508","source":"CTD"},{"inference_gene_symbol":"C3","pathway_name":"Adaptive Immune System","react_pathway_id":"R-HSA-1280218","source":"CTD"},{"inference_gene_symbol":"THBD","pathway_name":"Common Pathway of Fibrin Clot Formation","react_pathway_id":"R-HSA-140875","source":"CTD"},{"inference_gene_symbol":"THBD","pathway_name":"Formation of Fibrin Clot (Clotting Cascade)","react_pathway_id":"R-HSA-140877","source":"CTD"},{"inference_gene_symbol":["C3","DGKE"],"pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":["C3","CD46","CFB","CFH","CFHR3","CFI"],"pathway_name":"Complement cascade","react_pathway_id":"R-HSA-166658","source":"CTD"},{"inference_gene_symbol":["C3","CFB"],"pathway_name":"Initial triggering of complement","react_pathway_id":"R-HSA-166663","source":"CTD"},{"inference_gene_symbol":["C3","CD46","CFB","CFH","CFHR3","CFI"],"pathway_name":"Innate Immune System","react_pathway_id":"R-HSA-168249","source":"CTD"},{"inference_gene_symbol":["C3","CD46","CFB","CFH","CFHR3","CFI"],"pathway_name":"Immune System","react_pathway_id":"R-HSA-168256","source":"CTD"},{"inference_gene_symbol":["C3","CFB"],"pathway_name":"Alternative complement activation","react_pathway_id":"R-HSA-173736","source":"CTD"},{"inference_gene_symbol":["C3","CFB"],"pathway_name":"Activation of C3 and C5","react_pathway_id":"R-HSA-174577","source":"CTD"},{"inference_gene_symbol":"C3","pathway_name":"Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell","react_pathway_id":"R-HSA-198933","source":"CTD"},{"inference_gene_symbol":"THBD","pathway_name":"Cell surface interactions at the vascular wall","react_pathway_id":"R-HSA-202733","source":"CTD"},{"inference_gene_symbol":["C3","DGKE"],"pathway_name":"Signaling by GPCR","react_pathway_id":"R-HSA-372790","source":"CTD"},{"inference_gene_symbol":"C3","pathway_name":"Class A/1 (Rhodopsin-like receptors)","react_pathway_id":"R-HSA-373076","source":"CTD"},{"inference_gene_symbol":"C3","pathway_name":"Peptide ligand-binding receptors","react_pathway_id":"R-HSA-375276","source":"CTD"},{"inference_gene_symbol":["C3","DGKE"],"pathway_name":"GPCR downstream signaling","react_pathway_id":"R-HSA-388396","source":"CTD"},{"inference_gene_symbol":"DGKE","pathway_name":"G alpha (q) signalling events","react_pathway_id":"R-HSA-416476","source":"CTD"},{"inference_gene_symbol":"C3","pathway_name":"G alpha (i) signalling events","react_pathway_id":"R-HSA-418594","source":"CTD"},{"inference_gene_symbol":"C3","pathway_name":"GPCR ligand binding","react_pathway_id":"R-HSA-500792","source":"CTD"},{"inference_gene_symbol":"C3","pathway_name":"Neutrophil degranulation","react_pathway_id":"R-HSA-6798695","source":"CTD"},{"inference_gene_symbol":"DGKE","pathway_name":"Platelet activation, signaling and aggregation","react_pathway_id":"R-HSA-76002","source":"CTD"},{"inference_gene_symbol":"DGKE","pathway_name":"Gastrin-CREB signalling pathway via PKC and MAPK","react_pathway_id":"R-HSA-881907","source":"CTD"},{"inference_gene_symbol":["C3","CD46","CFB","CFH","CFHR3","CFI"],"pathway_name":"Regulation of Complement cascade","react_pathway_id":"R-HSA-977606","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:612","DOID:626","DOID:4","DOID:7","DOID:2914"],"children":[],"def":"\"A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.\" [url:https\\://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage, url:https\\://rarediseases.info.nih.gov/diseases/8702/index#ref_2575, url:https\\://www.ncbi.nlm.nih.gov/pubmed/29226095]","descendants":[],"doid":"DOID:0080301","name":"atypical hemolytic-uremic syndrome","parents":["DOID:626"],"synonyms":{},"xrefs":{"gard":"8702","mesh":"D065766","ordo":"2134"}},"hpo":{"disease_name":"Atypical hemolytic uremic syndrome","orphanet":"2134","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000093","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000790","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001871","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001873","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001919","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001937","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001939","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0045040","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0004431","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0005339","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0005356","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0005416","orphanet_refs":"orphanet:2134"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0040229","orphanet_refs":"orphanet:2134"}]},"mondo":{"ancestors":["MONDO:7770009","MONDO:0019737","MONDO:0000001","MONDO:0005570","MONDO:0003832","MONDO:7770008","MONDO:0957097","MONDO:7770006","MONDO:0005046","MONDO:0001531","MONDO:0700096","MONDO:0001549","MONDO:0021181","MONDO:0003847","MONDO:0003778","MONDO:0021094","MONDO:0002254"],"children":["MONDO:0018159","MONDO:0019738","MONDO:0019739","MONDO:0035290"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0016244"]},"definition":"A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction. [Orphanet:2134]","descendants":["MONDO:0013043","MONDO:0013042","MONDO:0013044","MONDO:0019739","MONDO:0013041","MONDO:0018159","MONDO:0035290","MONDO:0013040","MONDO:0019738"],"excluded_subClassOf":{"mondo":["MONDO:0003664"]},"label":"atypical hemolytic-uremic syndrome","mondo":"MONDO:0016244","parents":["MONDO:0002254","MONDO:0003832","MONDO:0019737","MONDO:0957097"],"synonym":{"exact":["aHUS","Atypical Hemolytic Uremic Syndrome","atypical hemolytic uremic syndrome","atypical HUS","D-HUS","hemolytic-uremic syndrome without diarrhea","hemolytic-uremic syndrome without diarrhoea","non-diarrhea-associated hemolytic uremic syndrome"],"related":["D-minus hemolytic uremic syndrome (D-HUS)","HUS, atypical"]},"xrefs":{"doid":["DOID:0080301"],"gard":["0008702"],"medgen":["444141"],"mesh":["D065766"],"nando":["1200473","1200474","2200641","2200131"],"ncit":["C123223"],"nord":["822"],"orphanet":["2134"],"umls":["C2931788"]}},"original_id":"orphanet:2134","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D065766","preferred":"D065766"},"nci":{"preferred":"C123223"},"snomed":{"non-preferred":"789660001","preferred":"789660001"},"umls":"C2931788"}}