{
    "disease_id": "DOID:0110980", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "Joubert-Boltshauser syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "Joubert syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "CORS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "cerebelloparenchymal disorder IV"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "cerebelloparenchymal disorder 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "INPP5E Joubert syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "Joubert syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "CPD4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "Joubert syndrome caused by mutation in INPP5E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "Cerebellooculorenal syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "JBTS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "Joubert syndrome 1; JBTS1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110980", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110980", 
            "name": "CORS1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110980", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110980", 
            "name": "CPD4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110980", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110980", 
            "name": "JBTS1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110980", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110980", 
            "name": "cerebellooculorenal syndrome 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110980", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110980", 
            "name": "cerebelloparenchymal disorder IV"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110980", 
        "description": "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110980", 
        "name": "Joubert syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110980#disease-associations", 
            "id": "0110980", 
            "database": "Alliance of Genome Resources"
        }
    ]
}