{
    "disease_id": "DOID:0060550", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008693", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008693", 
            "name": "poikiloderma with neutropenia, Clericuzio type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008693", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008693", 
            "name": "AMS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008693", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008693", 
            "name": "ablepharon-macrostomia syndrome; AMS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008693", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008693", 
            "name": "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008693", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008693", 
            "name": "ablepharon-macrostomia syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060550", 
        "description": "A syndrome characterized by  ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060550", 
        "name": "ablepharon macrostomia syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060550#disease-associations", 
            "id": "0060550", 
            "database": "Alliance of Genome Resources"
        }
    ]
}