{
    "disease_id": "DOID:0070350", 
    "synonyms": [], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070350", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070350", 
        "name": "spinal muscular atrophy with lower extremity predominante 2B"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0070350#disease-associations", 
            "id": "0070350", 
            "database": "Alliance of Genome Resources"
        }
    ]
}