{
    "disease_id": "DOID:4997", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011690", 
            "name": "Camurati-Engelmann disease, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011690", 
            "name": "Camurati Engelmann disease, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011690", 
            "name": "progressive diaphyseal dysplasia with striations of the bones"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011690", 
            "name": "CAEND2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4997", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4997", 
            "name": "Diaphyseal dysplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4997", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4997", 
            "name": "Engelman's disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4997", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4997", 
            "name": "progressive diaphyseal dysplasia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:4997", 
        "description": "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.", 
        "resource": "Disease Ontology", 
        "id": "DOID:4997", 
        "name": "Camurati-Engelmann disease"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/4997#disease-associations", 
            "id": "4997", 
            "database": "Alliance of Genome Resources"
        }
    ]
}