{
    "disease_id": "DOID:0070118",
    "recommended_name": {
        "id": "DOID:0070118",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070118",
        "name": "Meckel syndrome 4",
        "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0070118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070118",
            "name": "MKS4",
            "description": ""
        },
        {
            "id": "DOID:0070118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070118",
            "name": "Meckel-Gruber syndrome, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012626",
            "name": "Meckel syndrome, type 4",
            "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene."
        },
        {
            "id": "MONDO:0012626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012626",
            "name": "CEP290 Meckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012626",
            "name": "MKS4",
            "description": ""
        },
        {
            "id": "MONDO:0012626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012626",
            "name": "Meckel syndrome caused by mutation in CEP290",
            "description": ""
        },
        {
            "id": "MONDO:0012626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012626",
            "name": "Meckel syndrome, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012626",
            "name": "Meckel-Gruber syndrome, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012626",
            "name": "Meckel syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012626",
            "name": "Meckel-like Cerebrorenodigital syndrome",
            "description": ""
        },
        {
            "id": "MIM:611134",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611134",
            "name": "Meckel syndrome 4",
            "description": "Meckel syndrome 4"
        }
    ]
}