{"_id":"MONDO:0008863","_version":1,"ctd":{"chemical_related_to_disease":[{"chemical_name":"Ezetimibe","direct_evidence":"therapeutic","mesh_chemical_id":"D000069438","pubmed":"19428931","source":"CTD"},{"chemical_name":"Sitosterols","direct_evidence":"marker/mechanism","mesh_chemical_id":"D012855","pubmed":"11138003","source":"CTD"}],"mesh":"C537345","pathway_related_to_disease":[{"inference_gene_symbol":["ABCG5","ABCG8"],"kegg_pathway_id":"hsa02010","pathway_name":"ABC transporters","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"kegg_pathway_id":"hsa04975","pathway_name":"Fat digestion and absorption","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"kegg_pathway_id":"hsa04976","pathway_name":"Bile secretion","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"pathway_name":"ABC transporters in lipid homeostasis","react_pathway_id":"R-HSA-1369062","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"pathway_name":"Trafficking of dietary sterols","react_pathway_id":"R-HSA-265473","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"pathway_name":"ABC-family proteins mediated transport","react_pathway_id":"R-HSA-382556","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"pathway_name":"Metabolism of lipids and lipoproteins","react_pathway_id":"R-HSA-556833","source":"CTD"},{"inference_gene_symbol":["ABCG5","ABCG8"],"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:5295","DOID:0050177","DOID:630","DOID:4","DOID:0050737","DOID:7","DOID:77","DOID:0050739"],"children":["DOID:0060983","DOID:0070634"],"def":"\"An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia.\" [url:https\\://medlineplus.gov/genetics/condition/sitosterolemia/, url:https\\://www.ncbi.nlm.nih.gov/books/NBK572142/, url:https\\://www.ncbi.nlm.nih.gov/pubmed/11099417, url:https\\://www.ncbi.nlm.nih.gov/pubmed/11138003]","descendants":["DOID:0070634","DOID:0060983"],"doid":"DOID:0090019","name":"sitosterolemia","parents":["DOID:0050737","DOID:5295"],"synonyms":{"exact":["phytosterolemia"]},"xrefs":{"gard":"7653","mesh":"C537345","mim":"PS210250","ncit":"C125694","ordo":"2882","snomedct_us_2025_09_01":"238104009","umls_cui":"C0342907"}},"hpo":{"disease_name":"Sitosterolemia","orphanet":"2882","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000991","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001744","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001878","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001902","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002829","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002910","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003124","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0004446","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0005181","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0033341","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0040185","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001650","orphanet_refs":"orphanet:2882"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0005059","orphanet_refs":"orphanet:2882"}]},"mondo":{"ancestors":["MONDO:0005066","MONDO:7770007","MONDO:0015905","MONDO:0700096","MONDO:7770009","MONDO:0000001","MONDO:7770006","MONDO:0003847","MONDO:0002525","MONDO:0002254","MONDO:0019052","MONDO:7770008"],"children":["MONDO:0020747","MONDO:0020748"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0008863"]},"definition":"A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes. [Orphanet:2882]","descendants":["MONDO:0020748","MONDO:0020747"],"label":"sitosterolemia","mondo":"MONDO:0008863","parents":["MONDO:0015905"],"should_conform_to":{"http":["http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"]},"synonym":{"exact":["phytosterolemia","sitosterolemia"],"related":["plant sterol storage disease","retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body","STSL"]},"xrefs":{"doid":["DOID:0090019"],"gard":["0007653"],"meddra":["10063985"],"medgen":["87466"],"mesh":["C537345"],"nando":["1200853"],"ncit":["C125694"],"nord":["1911"],"omimps":["215250","210250"],"orphanet":["101022","2882"],"sctid":["238104009"],"umls":["C0342907"]}},"original_id":"orphanet:2882","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C537345","preferred":"C537345"},"nci":{"preferred":"C125694"},"snomed":{"non-preferred":"238104009","preferred":"238104009"},"umls":"C0342907"}}