{
    "disease_id": "DOID:0080295", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033485", 
            "name": "short-rib thoracic dysplasia 19 with or without polydactyly; SRTD19"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033485", 
            "name": "SRTD19"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080295", 
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080295", 
        "name": "short-rib thoracic dysplasia 19 with or without polydactyly"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080295#disease-associations", 
            "id": "0080295", 
            "database": "Alliance of Genome Resources"
        }
    ]
}