{
    "disease_id": "DOID:0080295",
    "recommended_name": {
        "id": "DOID:0080295",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080295",
        "name": "short-rib thoracic dysplasia 19 with or without polydactyly",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0033485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033485",
            "name": "short-rib thoracic dysplasia 19 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0033485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033485",
            "name": "short-rib thoracic dysplasia 19 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0033485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033485",
            "name": "SRTD19",
            "description": ""
        },
        {
            "id": "MIM:617895",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617895",
            "name": "Short-rib thoracic dysplasia 19 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 19 with or without polydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080295"
    ],
    "unlinked_id_list": []
}