{"_id":"MONDO:0018150","_version":1,"ctd":{"chemical_related_to_disease":[{"chemical_name":"Cholesterol, HDL","direct_evidence":"marker/mechanism","mesh_chemical_id":"D008076","pubmed":"19959168","source":"CTD"},{"chemical_name":"Cholesterol, LDL","direct_evidence":"marker/mechanism","mesh_chemical_id":"D008078","pubmed":"19959168","source":"CTD"},{"cas_registry_number":"6090-95-5","chemical_name":"conduritol epoxide","direct_evidence":"marker/mechanism","mesh_chemical_id":"C011423","pubmed":"19576930","source":"CTD"},{"chemical_name":"Glucosylceramides","direct_evidence":"marker/mechanism","mesh_chemical_id":"D005963","pubmed":"19959168","source":"CTD"},{"chemical_name":"miglustat","direct_evidence":"therapeutic","mesh_chemical_id":"C059896","pubmed":["19299496","19959168"],"source":"CTD"},{"cas_registry_number":"81-81-2","chemical_name":"Warfarin","direct_evidence":"therapeutic","mesh_chemical_id":"D014859","pubmed":"12359135","source":"CTD"}],"mesh":"D005776","pathway_related_to_disease":[{"inference_gene_symbol":"GBA1","kegg_pathway_id":"hsa00511","pathway_name":"Other glycan degradation","source":"CTD"},{"inference_gene_symbol":"CHIT1","kegg_pathway_id":"hsa00520","pathway_name":"Amino sugar and nucleotide sugar metabolism","source":"CTD"},{"inference_gene_symbol":"GBA1","kegg_pathway_id":"hsa00600","pathway_name":"Sphingolipid metabolism","source":"CTD"},{"inference_gene_symbol":["CHIT1","GBA1"],"kegg_pathway_id":"hsa01100","pathway_name":"Metabolic pathways","source":"CTD"},{"inference_gene_symbol":"GBA1","kegg_pathway_id":"hsa04142","pathway_name":"Lysosome","source":"CTD"},{"inference_gene_symbol":"ACE","kegg_pathway_id":"hsa04614","pathway_name":"Renin-angiotensin system","source":"CTD"},{"inference_gene_symbol":"ACE","kegg_pathway_id":"hsa04924","pathway_name":"Renin secretion","source":"CTD"},{"inference_gene_symbol":"SNCA","kegg_pathway_id":"hsa05010","pathway_name":"Alzheimer's disease","source":"CTD"},{"inference_gene_symbol":"SNCA","kegg_pathway_id":"hsa05012","pathway_name":"Parkinson's disease","source":"CTD"},{"inference_gene_symbol":"ACE","kegg_pathway_id":"hsa05142","pathway_name":"Chagas disease (American trypanosomiasis)","source":"CTD"},{"inference_gene_symbol":"ACE","kegg_pathway_id":"hsa05410","pathway_name":"Hypertrophic cardiomyopathy (HCM)","source":"CTD"},{"inference_gene_symbol":["CHIT1","GBA1"],"pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":"GBA1","pathway_name":"Glycosphingolipid metabolism","react_pathway_id":"R-HSA-1660662","source":"CTD"},{"inference_gene_symbol":"CHIT1","pathway_name":"Innate Immune System","react_pathway_id":"R-HSA-168249","source":"CTD"},{"inference_gene_symbol":"CHIT1","pathway_name":"Immune System","react_pathway_id":"R-HSA-168256","source":"CTD"},{"inference_gene_symbol":"ACE","pathway_name":"Metabolism of Angiotensinogen to Angiotensins","react_pathway_id":"R-HSA-2022377","source":"CTD"},{"inference_gene_symbol":"ACE","pathway_name":"Peptide hormone metabolism","react_pathway_id":"R-HSA-2980736","source":"CTD"},{"inference_gene_symbol":"GBA1","pathway_name":"Chaperonin-mediated protein folding","react_pathway_id":"R-HSA-390466","source":"CTD"},{"inference_gene_symbol":"GBA1","pathway_name":"Association of TriC/CCT with target proteins during biosynthesis","react_pathway_id":"R-HSA-390471","source":"CTD"},{"inference_gene_symbol":"GBA1","pathway_name":"Protein folding","react_pathway_id":"R-HSA-391251","source":"CTD"},{"inference_gene_symbol":["ACE","GBA1","SNCA"],"pathway_name":"Metabolism of proteins","react_pathway_id":"R-HSA-392499","source":"CTD"},{"inference_gene_symbol":"GBA1","pathway_name":"Sphingolipid metabolism","react_pathway_id":"R-HSA-428157","source":"CTD"},{"inference_gene_symbol":"GBA1","pathway_name":"Metabolism of lipids and lipoproteins","react_pathway_id":"R-HSA-556833","source":"CTD"},{"inference_gene_symbol":"CHIT1","pathway_name":"Neutrophil degranulation","react_pathway_id":"R-HSA-6798695","source":"CTD"},{"inference_gene_symbol":"CHIT1","pathway_name":"Metabolism of carbohydrates","react_pathway_id":"R-HSA-71387","source":"CTD"},{"inference_gene_symbol":"SNCA","pathway_name":"Amyloid fiber formation","react_pathway_id":"R-HSA-977225","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:3211","DOID:0014667","DOID:630","DOID:4","DOID:655","DOID:1927","DOID:9455"],"children":["DOID:0110957","DOID:0110958","DOID:0110959","DOID:0110960","DOID:0110961"],"def":"\"A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.\" [url:http\\://en.wikipedia.org/wiki/Gaucher%27s_disease, url:https\\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract]","descendants":["DOID:0112250","DOID:0110957","DOID:0110961","DOID:0110959","DOID:0110958","DOID:0110960"],"doid":"DOID:1926","name":"Gaucher's disease","parents":["DOID:1927"],"synonyms":{"exact":["acid beta-glucosidase deficiency","Gaucher disease","glocucerebrosidase deficiency","glucosylceramide beta-glucosidase deficiency","kerasin thesaurismosis"]},"xrefs":{"gard":"8233","icd10":"E75.22","mesh":"D005776","ncit":"C61268","ordo":"355","snomedct_us_2025_09_01":"190794006","umls_cui":"C0017205"}},"hpo":{"clinical_course":{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001522","hpo_name":"Death in infancy","original_disease_id":"orphanet:355","orphanet_refs":"ORPHA:355"},"disease_name":"Gaucher disease","orphanet":"355","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001928","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002071","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002092","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002093","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002119","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002179","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002206","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002754","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002756","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002758","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002797","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002804","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002808","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003233","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003459","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004322","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004374","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004380","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004382","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0006530","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0006775","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0006824","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007141","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007957","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0008064","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010702","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010729","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011001","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011227","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012115","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0031047","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001399","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0012223","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0034336","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001744","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001903","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002240","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003656","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012378","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000486","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000716","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000823","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000924","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000938","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001081","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001249","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001251","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001373","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001510","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001873","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001882","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001945","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002015","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002027","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002069","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002123","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002376","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002653","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002750","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002757","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002829","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003281","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003330","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0004975","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0008872","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0010885","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0032640","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100022","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:6000213","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000093","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000225","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000238","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000365","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000488","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000657","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000726","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000790","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000939","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001000","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001103","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001252","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001300","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001337","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001387","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001394","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001395","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001637","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001654","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001697","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001789","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001876","orphanet_refs":"orphanet:355"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001892","orphanet_refs":"orphanet:355"}]},"mondo":{"ancestors":["MONDO:7770009","MONDO:0000001","MONDO:0002022","MONDO:7770007","MONDO:0024458","MONDO:0019052","MONDO:7770008","MONDO:0005066","MONDO:7770006","MONDO:0005328","MONDO:0019245","MONDO:0002561","MONDO:0700096","MONDO:0019255","MONDO:0003847","MONDO:0002525"],"children":["MONDO:0009265","MONDO:0009266","MONDO:0009267","MONDO:0009268","MONDO:0011945"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0018150"]},"definition":"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). [Orphanet:355]","descendants":["MONDO:0009268","MONDO:0009266","MONDO:0011945","MONDO:0009267","MONDO:0009265"],"label":"Gaucher disease","mondo":"MONDO:0018150","parents":["MONDO:0005328","MONDO:0019255"],"synonym":{"exact":["acid beta-glucosidase deficiency","Gaucher disease","Gaucher syndrome","glucocerebrosidase deficiency","glucocerebrosidosis","glucosylceramidase deficiency","glucosylceramide beta-glucosidase deficiency","lipoid histiocytosis (kerasin type)"],"related":["glucosyl cerebroside lipidosis","sphingolipidosis 1"]},"xrefs":{"doid":["DOID:1926"],"gard":["0008233"],"icd10cm":["E75.22"],"icd11":["foundation:1923566939"],"meddra":["10018048"],"medgen":["42164"],"mesh":["D005776"],"nando":["2200562","1200056"],"ncit":["C61268"],"nord":["1177"],"orphanet":["355"],"sctid":["190794006"],"umls":["C0017205"]}},"original_id":"orphanet:355","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"preferred":"E75.22"},"mesh":{"non-preferred":"D005776","preferred":"D005776"},"nci":{"preferred":"C61268"},"snomed":{"non-preferred":["180485001","190794006","2859005","62201009"],"preferred":["190794006","2859005"]},"umls":"C0017205"}}