{
    "disease_id": "DOID:0050981",
    "recommended_name": {
        "id": "DOID:0050981",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050981",
        "name": "spinocerebellar ataxia type 34",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia type 34",
            "description": "Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes."
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia 34",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "Giroux Barbeau syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "SCA34",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia type 34",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "erythrokeratodermia with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "erythrokeratodermia - ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia 34; SCA34",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia and erythrokeratodermia",
            "description": ""
        },
        {
            "id": "MIM:133190",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133190",
            "name": "Spinocerebellar ataxia 34",
            "description": "Spinocerebellar ataxia 34"
        }
    ]
}