{
    "disease_id": "DOID:0110980",
    "recommended_name": {
        "id": "DOID:0110980",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110980",
        "name": "Joubert syndrome 1",
        "description": "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110980",
            "name": "CORS1",
            "description": ""
        },
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110980",
            "name": "CPD4",
            "description": ""
        },
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110980",
            "name": "JBTS1",
            "description": ""
        },
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110980",
            "name": "cerebellooculorenal syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110980",
            "name": "cerebelloparenchymal disorder IV",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome 1",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene."
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert-Boltshauser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "CORS1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "cerebelloparenchymal disorder IV",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "cerebelloparenchymal disorder 4",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "INPP5E Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "CPD4",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome caused by mutation in INPP5E",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Cerebellooculorenal syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "JBTS1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome 1; JBTS1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "cerebellooculorenal syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:213300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/213300",
            "name": "Joubert syndrome 1",
            "description": "Joubert syndrome 1"
        }
    ]
}