{
    "disease_id": "DOID:0111527",
    "recommended_name": {
        "id": "DOID:0111527",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111527",
        "name": "spinal muscular atrophy with progressive myoclonic epilepsy",
        "description": "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22."
    },
    "synonyms": [
        {
            "id": "DOID:0111527",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111527",
            "name": "Jankovic-Rivera syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111527",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111527",
            "name": "SMA-PME",
            "description": ""
        },
        {
            "id": "DOID:0111527",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111527",
            "name": "SMAPME",
            "description": ""
        },
        {
            "id": "DOID:0111527",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111527",
            "name": "hereditary myoclonus-progressive distal muscular atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome",
            "description": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus."
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "hereditary myoclonus and progressive distal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "SMAPME",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "myoclonus, hereditary, with progressive distal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "Jankovic Rivera syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "spinal muscular atrophy with progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "Jankovic-Rivera syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "spinal muscular atrophy with progressive myoclonic epilepsy; SMAPME",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "hereditary myoclonus-progressive distal muscular atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "myoclonus hereditary progressive distal muscular atrophy",
            "description": ""
        },
        {
            "id": "MIM:159950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/159950",
            "name": "Spinal muscular atrophy with progressive myoclonic epilepsy",
            "description": "Spinal muscular atrophy with progressive myoclonic epilepsy"
        }
    ]
}