{
    "disease_id": "DOID:0070351",
    "recommended_name": {
        "id": "DOID:0070351",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070351",
        "name": "spinal muscular atrophy with lower extremity predominant 1",
        "description": "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0070351",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070351",
            "name": "spinal muscular atrophy with lower extremity predominance 1",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "SMALED1",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "spinal muscular atrophy, lower extremity-predominant 1, AD",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:158600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158600",
            "name": "Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant",
            "description": "Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070351"
    ],
    "unlinked_id_list": []
}