{
    "disease_id": "DOID:0060853", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012574", 
            "name": "17p11.2 microduplication syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012574", 
            "name": "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012574", 
            "name": "Duplication 17p11.2 syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012574", 
            "name": "PTLS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012574", 
            "name": "trisomy 17p11.2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012574", 
            "name": "Potocki-Lupski syndrome; PTLS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012574", 
            "name": "17p11.2 Duplication syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012574", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012574", 
            "name": "chromosome 17p11.2 duplication syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060853", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060853", 
            "name": "17p11.2 microduplication syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060853", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060853", 
            "name": "chromosome 17p11.2 duplication syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060853", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060853", 
            "name": "trisomy 17p11.2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060853", 
        "description": "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060853", 
        "name": "Potocki-Lupski syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060853#disease-associations", 
            "id": "0060853", 
            "database": "Alliance of Genome Resources"
        }
    ]
}