{
    "disease_id": "DOID:0110097",
    "recommended_name": {
        "id": "DOID:0110097",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110097",
        "name": "short-rib thoracic dysplasia 9 with or without polydactyly",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110097",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110097",
            "name": "SRTD9",
            "description": ""
        },
        {
            "id": "DOID:0110097",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110097",
            "name": "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009964",
            "name": "short-rib thoracic dysplasia 9 with or without polydactyly",
            "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13."
        },
        {
            "id": "MONDO:0009964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009964",
            "name": "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009964",
            "name": "short-rib thoracic dysplasia 9 with or without polydactyly; SRTD9",
            "description": ""
        },
        {
            "id": "MONDO:0009964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009964",
            "name": "SRTD9",
            "description": ""
        },
        {
            "id": "MONDO:0009964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009964",
            "name": "Mainzer-Saldino syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009964",
            "name": "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009964",
            "name": "Conorenal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009964",
            "name": "short-rib thoracic dysplasia 9 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MIM:266920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266920",
            "name": "Short-rib thoracic dysplasia 9 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 9 with or without polydactyly"
        }
    ]
}