{
    "disease_id": "DOID:0111004",
    "recommended_name": {
        "id": "DOID:0111004",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111004",
        "name": "Joubert syndrome 9",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15."
    },
    "synonyms": [
        {
            "id": "DOID:0111004",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111004",
            "name": "JBTS9",
            "description": ""
        },
        {
            "id": "MONDO:0012849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012849",
            "name": "Joubert syndrome 9",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene."
        },
        {
            "id": "MONDO:0012849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012849",
            "name": "Joubert syndrome 9; JBTS9",
            "description": ""
        },
        {
            "id": "MONDO:0012849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012849",
            "name": "Joubert syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0012849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012849",
            "name": "Joubert syndrome 9/15, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0012849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012849",
            "name": "JBTS9",
            "description": ""
        },
        {
            "id": "MONDO:0012849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012849",
            "name": "Joubert syndrome caused by mutation in CC2D2A",
            "description": ""
        },
        {
            "id": "MONDO:0012849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012849",
            "name": "Joubert syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012849",
            "name": "CC2D2A Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:612285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612285",
            "name": "Joubert syndrome 9",
            "description": "Joubert syndrome 9"
        }
    ]
}