{"Name":"Sphingolipidosis","DiseaseID__c":"GARD:0007672","id":7672,"encodedName":"sphingolipidosis","IsDeleted":false,"Disease_Name_Full__c":"Sphingolipidosis","Xref_IDs__c":"238028008; C0037899; C117254; D013106; DOID:1927; MEDGEN:52453; MONDO:0019255; ORPHA:79225","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019255","Disease_Description__c":"An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.","GARD_Name__c":"Sphingolipidosis","GARD_Synonym__c":"sphingolipidoses","Curated_Disease_Description_Source__c":"MONDO:0019255","Curated_Disease_Description__c":"An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79225","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019255","ORPHANET_ID__c":"ORPHA:79225","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esfingolipidosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"esfingolipidosis","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.","Curated_Disease_Description_Source__c":"MONDO:0019255","GARD_Synonym__c":"sphingolipidoses","Name":"Sphingolipidosis","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013106","Source__c":"C0037899; MONDO:0019255","Xref__c":"D013106"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0037899","Source__c":"C0037899","Xref__c":"C0037899"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238028008","Source__c":"C0037899; MONDO:0019255","Xref__c":"238028008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=52453","Source__c":"C0037899","Xref__c":"MEDGEN:52453"},{"URL__c":"https://www.orpha.net/en/disease/detail/79225","Source__c":"C0037899; MONDO:0019255; ORPHA:79225","Xref__c":"ORPHA:79225"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1927","Source__c":"MONDO:0019255","Xref__c":"DOID:1927"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C117254","Source__c":"C0037899; MONDO:0019255","Xref__c":"C117254"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019255","Source__c":"GARD:0007672","Xref__c":"MONDO:0019255"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":["sphingolipidoses"]}