{
    "disease_id": "DOID:0080803",
    "recommended_name": {
        "id": "DOID:0080803",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080803",
        "name": "cranioectodermal dysplasia 1",
        "description": "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia 1",
            "description": "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene."
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "Levin syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia 1; CED1",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia caused by mutation in IFT122",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "IFT122 cranioectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "CED1",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "Sensenbrenner syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia 1",
            "description": ""
        },
        {
            "id": "MIM:218330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218330",
            "name": "Cranioectodermal dysplasia 1",
            "description": "Cranioectodermal dysplasia 1"
        }
    ]
}