{"Name":"Gangliosidosis","DiseaseID__c":"GARD:0012510","id":12510,"encodedName":"gangliosidosis","IsDeleted":false,"Disease_Name_Full__c":"Gangliosidosis","Xref_IDs__c":"50967008; C0017083; C195514; DOID:2368; MEDGEN:42149; MONDO:0017719; ORPHA:309144","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017719","Disease_Description__c":"A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.","GARD_Name__c":"Gangliosidosis","GARD_Synonym__c":"ganglioside accumulation in nervous tissue lysosomes; ganglioside storage disease","Curated_Disease_Description_Source__c":"MONDO:0017719","Curated_Disease_Description__c":"A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:309144","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017719","ORPHANET_ID__c":"ORPHA:309144","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Gangliosidosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"gangliosidosis","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":"A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.","Curated_Disease_Description_Source__c":"MONDO:0017719","GARD_Synonym__c":"ganglioside accumulation in nervous tissue lysosomes; ganglioside storage disease","Name":"Gangliosidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=42149","Source__c":"C0017083","Xref__c":"MEDGEN:42149"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2368","Source__c":"MONDO:0017719","Xref__c":"DOID:2368"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0017083","Source__c":"C0017083","Xref__c":"C0017083"},{"URL__c":"https://www.orpha.net/en/disease/detail/309144","Source__c":"C0017083; MONDO:0017719; ORPHA:309144","Xref__c":"ORPHA:309144"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50967008","Source__c":"C0017083; MONDO:0017719","Xref__c":"50967008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C195514","Source__c":"C0017083","Xref__c":"C195514"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005733","Source__c":"C0017083","Xref__c":"D005733"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017719","Source__c":"GARD:0012510","Xref__c":"MONDO:0017719"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Neurology","Epilepsy"],"Account":["Lysosomal","Epilepsy"]},"synonyms":["ganglioside accumulation in nervous tissue lysosomes"," ganglioside storage disease"]}