{
    "disease_id": "DOID:0110985",
    "recommended_name": {
        "id": "DOID:0110985",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110985",
        "name": "Joubert syndrome 16",
        "description": "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q."
    },
    "synonyms": [
        {
            "id": "DOID:0110985",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110985",
            "name": "JBTS16",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome 16",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene."
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "JBTS16",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome caused by mutation in TMEM138",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome type 16",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome 16; JBTS16",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "TMEM138 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome 16",
            "description": ""
        },
        {
            "id": "MIM:614465",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614465",
            "name": "Joubert syndrome 16",
            "description": "Joubert syndrome 16"
        }
    ]
}