{
    "disease_id": "DOID:0080293",
    "recommended_name": {
        "id": "DOID:0080293",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080293",
        "name": "short-rib thoracic dysplasia 18 with polydactyly",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0036483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0036483",
            "name": "short-rib thoracic dysplasia 18 with polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0036483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0036483",
            "name": "short-rib thoracic dysplasia 18 with polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0036483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0036483",
            "name": "SRTD18",
            "description": ""
        },
        {
            "id": "MIM:617866",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617866",
            "name": "Short-rib thoracic dysplasia 18 with polydactyly",
            "description": "Short-rib thoracic dysplasia 18 with polydactyly"
        }
    ]
}