{"Name":"Spinal muscular atrophy type 0","DiseaseID__c":"GARD:0026588","id":26588,"encodedName":"spinal-muscular-atrophy-type-0","IsDeleted":false,"Disease_Name_Full__c":"Spinal muscular atrophy type 0","Xref_IDs__c":"423022330; C4324643; DOID:0080667; MEDGEN:1843403; MONDO:0850170","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0850170","Disease_Description__c":"A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.","GARD_Name__c":"Spinal muscular atrophy type 0","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0850170","Curated_Disease_Description__c":"A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0850170","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.","Curated_Disease_Description_Source__c":"MONDO:0850170","Name":"Spinal muscular atrophy type 0","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure SMA","Website__c":"https://www.curesma.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843403","Source__c":"C4324643","Xref__c":"MEDGEN:1843403"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080667","Source__c":"MONDO:0850170","Xref__c":"DOID:0080667"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4324643","Source__c":"C4324643","Xref__c":"C4324643"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0850170","Source__c":"GARD:0026588","Xref__c":"MONDO:0850170"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022330","Xref__c":"423022330"}],"tags":{"Specialist":["Neuromuscular medicine"]},"synonyms":[""]}