{
    "disease_id": "DOID:0110993",
    "recommended_name": {
        "id": "DOID:0110993",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110993",
        "name": "Joubert syndrome 24",
        "description": "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110993",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110993",
            "name": "JBTS24",
            "description": ""
        },
        {
            "id": "MONDO:0014724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014724",
            "name": "Joubert syndrome 24",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene."
        },
        {
            "id": "MONDO:0014724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014724",
            "name": "Joubert syndrome 24; JBTS24",
            "description": ""
        },
        {
            "id": "MONDO:0014724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014724",
            "name": "TCTN2 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014724",
            "name": "Joubert syndrome caused by mutation in TCTN2",
            "description": ""
        },
        {
            "id": "MONDO:0014724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014724",
            "name": "Joubert syndrome type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014724",
            "name": "Joubert syndrome 24",
            "description": ""
        },
        {
            "id": "MONDO:0014724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014724",
            "name": "JBTS24",
            "description": ""
        },
        {
            "id": "MIM:616654",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616654",
            "name": "Joubert syndrome 24",
            "description": "Joubert syndrome 24"
        }
    ]
}