{
    "disease_id": "DOID:0080253",
    "recommended_name": {
        "id": "DOID:0080253",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080253",
        "name": "Meckel syndrome 13",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0033044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033044",
            "name": "Meckel syndrome 13",
            "description": ""
        },
        {
            "id": "MONDO:0033044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033044",
            "name": "Meckel syndrome 13",
            "description": ""
        },
        {
            "id": "MONDO:0033044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033044",
            "name": "Meckel syndrome, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0033044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033044",
            "name": "MKS13",
            "description": ""
        },
        {
            "id": "MIM:617562",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617562",
            "name": "Meckel syndrome 13",
            "description": "Meckel syndrome 13"
        }
    ]
}