{
    "disease_id": "DOID:12714",
    "recommended_name": {
        "id": "DOID:12714",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:12714",
        "name": "Ellis-Van Creveld syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:12714",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12714",
            "name": "Chondroectodermal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:12714",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12714",
            "name": "Ellis-van Creveld syndrome",
            "description": ""
        },
        {
            "id": "DOID:12714",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12714",
            "name": "mesoectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009162",
            "name": "Ellis-van Creveld syndrome",
            "description": "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects."
        },
        {
            "id": "MONDO:0009162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009162",
            "name": "Ellis-van Creveld syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009162",
            "name": "Chondroectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009162",
            "name": "Ellis-VAN Creveld syndrome; EVC",
            "description": ""
        },
        {
            "id": "MONDO:0009162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009162",
            "name": "EVC",
            "description": ""
        },
        {
            "id": "MONDO:0009162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009162",
            "name": "mesodermic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009162",
            "name": "Ellis Van Creveld syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009162",
            "name": "Mesoectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:225500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225500",
            "name": "Ellis-van Creveld syndrome",
            "description": "Ellis-van Creveld syndrome"
        }
    ]
}