{
    "disease_id": "DOID:0080790", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013385", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013385", 
            "name": "TREACHER COLLINS syndrome 2; TCS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013385", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013385", 
            "name": "TCS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013385", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013385", 
            "name": "POLR1D Treacher-Collins syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013385", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013385", 
            "name": "Treacher Collins syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013385", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013385", 
            "name": "Treacher-Collins syndrome caused by mutation in POLR1D"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080790", 
        "description": "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080790", 
        "name": "Treacher Collins syndrome 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613717", 
            "id": "613717", 
            "database": "MIM"
        }
    ]
}