{
    "disease_id": "DOID:0111527", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "hereditary myoclonus and progressive distal muscular atrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "SMAPME"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "myoclonus, hereditary, with progressive distal muscular atrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "Jankovic Rivera syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "Jankovic-Rivera syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "spinal muscular atrophy with progressive myoclonic epilepsy; SMAPME"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "hereditary myoclonus-progressive distal muscular atrophy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008045", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008045", 
            "name": "myoclonus hereditary progressive distal muscular atrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111527", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111527", 
            "name": "Jankovic-Rivera syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111527", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111527", 
            "name": "SMA-PME"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111527", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111527", 
            "name": "SMAPME"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111527", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111527", 
            "name": "hereditary myoclonus-progressive distal muscular atrophy syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111527", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111527", 
        "name": "spinal muscular atrophy with progressive myoclonic epilepsy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111527#disease-associations", 
            "id": "0111527", 
            "database": "Alliance of Genome Resources"
        }
    ]
}