{
    "disease_id": "DOID:0110086",
    "recommended_name": {
        "id": "DOID:0110086",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110086",
        "name": "asphyxiating thoracic dystrophy 2",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110086",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110086",
            "name": "short-rib thoracic dysplasia 2 with or without polydactyly",
            "description": ""
        },
        {
            "id": "DOID:0110086",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110086",
            "name": "ATD2",
            "description": ""
        },
        {
            "id": "DOID:0110086",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110086",
            "name": "SRTD2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "asphyxiating thoracic dystrophy 2",
            "description": "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene."
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "ATD2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "IFT80 Jeune syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "Jeune syndrome caused by mutation in IFT80",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "SRTD2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "asphyxiating thoracic dystrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "asphyxiating thoracic dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "short-rib thoracic dysplasia 2 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MIM:611263",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611263",
            "name": "Short-rib thoracic dysplasia 2 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 2 with or without polydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110086"
    ],
    "unlinked_id_list": []
}
