{
    "disease_id": "DOID:0050981", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007574", 
            "name": "spinocerebellar ataxia 34"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007574", 
            "name": "Giroux Barbeau syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007574", 
            "name": "SCA34"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007574", 
            "name": "erythrokeratodermia with ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007574", 
            "name": "erythrokeratodermia - ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007574", 
            "name": "spinocerebellar ataxia 34; SCA34"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007574", 
            "name": "spinocerebellar ataxia and erythrokeratodermia"
        }, 
        {
            "url": "https://www.omim.org/entry/133190", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:133190", 
            "name": "Spinocerebellar ataxia 34"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050981", 
        "description": "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050981", 
        "name": "spinocerebellar ataxia type 34"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/133190", 
            "id": "133190", 
            "database": "MIM"
        }
    ]
}
