{
    "disease_id": "DOID:0070351", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "SMALED1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "Kugelberg-Welander syndrome, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "spinal muscular atrophy, juvenile, proximal, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant; SMALED1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "spinal muscular atrophy, childhood, proximal, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "Sma-led"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008026", 
            "name": "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070351", 
        "description": "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in  heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070351", 
        "name": "spinal muscular atrophy with lower extremity predominance 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0070351#disease-associations", 
            "id": "0070351", 
            "database": "Alliance of Genome Resources"
        }
    ]
}