{
    "disease_id": "DOID:0050774", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009955", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009955", 
            "name": "radial and patellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009955", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009955", 
            "name": "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009955", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009955", 
            "name": "radial and patellar aplasia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050774", 
        "description": "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050774", 
        "name": "rapadilino syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050774#disease-associations", 
            "id": "0050774", 
            "database": "Alliance of Genome Resources"
        }
    ]
}