{
    "disease_id": "DOID:0080253", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033044", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033044", 
            "name": "Joubert syndrome 29"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033044", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033044", 
            "name": "Meckel syndrome 13; MKS13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033044", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033044", 
            "name": "MKS13"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080253", 
        "description": "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080253", 
        "name": "Meckel syndrome 13"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080253#disease-associations", 
            "id": "0080253", 
            "database": "Alliance of Genome Resources"
        }
    ]
}