{"Name":"Spinocerebellar ataxia, X-linked 2","DiseaseID__c":"GARD:0009978","id":9978,"encodedName":"spinocerebellar-ataxia-x-linked-2","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia, X-linked 2","Xref_IDs__c":"C1844885; C537314; DOID:0111830; MEDGEN:375535; MONDO:0010548; OMIM:302600","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C1844885","Disease_Description__c":null,"GARD_Name__c":"Spinocerebellar ataxia, X-linked 2","GARD_Synonym__c":"spinocerebellar ataxia, x-linked type 2","Curated_Disease_Description_Source__c":"MEDGEN:C1844885","Curated_Disease_Description__c":null,"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:0010548","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_Source__c":"MEDGEN:C1844885","GARD_Synonym__c":"spinocerebellar ataxia, x-linked type 2","Name":"Spinocerebellar ataxia, X-linked 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375535","Source__c":"C1844885","Xref__c":"MEDGEN:375535"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111830","Source__c":"MONDO:0010548","Xref__c":"DOID:0111830"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844885","Source__c":"C1844885","Xref__c":"C1844885"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537314","Source__c":"MONDO:0010548","Xref__c":"C537314"},{"URL__c":"https://www.omim.org/entry/302600","Source__c":"C1844885; MONDO:0010548","Xref__c":"OMIM:302600"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010548","Source__c":"GARD:0009978","Xref__c":"MONDO:0010548"}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:302600","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:302600","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["spinocerebellar ataxia, x-linked type 2"]}