{
    "disease_id": "DOID:13994", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008994", 
            "name": "cleidocranial dysplasia, recessive form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008994", 
            "name": "cleidocranial dysplasia recessive form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008994", 
            "name": "autosomal recessive form of cleidocranial dysostosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:13994", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:13994", 
            "name": "Marie-Sainton Disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:13994", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:13994", 
            "name": "cleidocranial dysostosis"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:13994", 
        "description": "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.", 
        "resource": "Disease Ontology", 
        "id": "DOID:13994", 
        "name": "cleidocranial dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/13994#disease-associations", 
            "id": "13994", 
            "database": "Alliance of Genome Resources"
        }
    ]
}