{
    "disease_id": "DOID:0070350",
    "recommended_name": {
        "id": "DOID:0070350",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070350",
        "name": "spinal muscular atrophy with lower extremity predominant 2B",
        "description": "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070350",
            "name": "spinal muscular atrophy with lower extremity predominance 2B",
            "description": ""
        },
        {
            "id": "MONDO:0032660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032660",
            "name": "spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0032660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032660",
            "name": "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0032660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032660",
            "name": "SMALED2B",
            "description": ""
        },
        {
            "id": "MIM:618291",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618291",
            "name": "Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant",
            "description": "Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070350"
    ],
    "unlinked_id_list": []
}