{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009162", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009162", 
            "name": "Chondroectodermal dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009162", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009162", 
            "name": "Ellis-VAN Creveld syndrome; EVC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009162", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009162", 
            "name": "EVC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009162", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009162", 
            "name": "mesodermic dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009162", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009162", 
            "name": "Ellis Van Creveld syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009162", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009162", 
            "name": "Mesoectodermal dysplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:12714", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:12714", 
            "name": "Chondroectodermal dysplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:12714", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:12714", 
            "name": "mesoectodermal dysplasia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:12714", 
        "description": "A syndrome characterized by short limbs, short ribs, postaxial polydactyly,  dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:12714", 
        "name": "Ellis-Van Creveld syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/225500", 
            "id": "225500", 
            "database": "MIM"
        }
    ]
}