{
    "disease_id": "DOID:0110986",
    "recommended_name": {
        "id": "DOID:0110986",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110986",
        "name": "Joubert syndrome 17",
        "description": "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome  5p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110986",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110986",
            "name": "JBTS17",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome 17",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene."
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome 17",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome caused by mutation in CPLANE1",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "JBTS17",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "CPLANE1 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome 17; JBTS17",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome type 17",
            "description": ""
        },
        {
            "id": "MIM:614615",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614615",
            "name": "Joubert syndrome 17",
            "description": "Joubert syndrome 17"
        }
    ]
}