{
    "disease_id": "DOID:0070349",
    "recommended_name": {
        "id": "DOID:0070349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070349",
        "name": "spinal muscular atrophy with lower extremity predominant 2A",
        "description": "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070349",
            "name": "spinal muscular atrophy with lower extremity predominance 2A",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "SMALED2",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "autosomal dominant spinal muscular atrophy, lower extremity-predominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:615290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615290",
            "name": "Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant",
            "description": "Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070349"
    ],
    "unlinked_id_list": []
}