{
    "disease_id": "DOID:0050777", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008944", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008944", 
            "name": "Joubert syndrome 1"
        }, 
        {
            "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": "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:0050777", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050777", 
            "name": "JBTS"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050777", 
        "description": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050777", 
        "name": "Joubert syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050777#disease-associations", 
            "id": "0050777", 
            "database": "Alliance of Genome Resources"
        }
    ]
}