{
    "disease_id": "DOID:0081356",
    "recommended_name": {
        "id": "DOID:0081356",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081356",
        "name": "spinal muscular atrophy, Jokela type",
        "description": "A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0014025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014025",
            "name": "lower motor neuron syndrome with late-adult onset",
            "description": ""
        },
        {
            "id": "MONDO:0014025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014025",
            "name": "SMAJ",
            "description": ""
        },
        {
            "id": "MONDO:0014025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014025",
            "name": "spinal muscular atrophy, Jokela type",
            "description": ""
        },
        {
            "id": "MIM:615048",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615048",
            "name": "Spinal muscular atrophy, Jokela type",
            "description": "Spinal muscular atrophy, Jokela type"
        }
    ]
}