{
    "disease_id": "DOID:0060549", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008853", 
            "name": "hypertrichosis atrophic skin ectropion macrostomia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008853", 
            "name": "Barber Say syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008853", 
            "name": "BARBER-SAY syndrome; BBRSAY"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008853", 
            "name": "BBRSAY"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008853", 
            "name": "Bss"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008853", 
            "name": "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008853", 
            "name": "hypertrichosis, atrophic skin, ectropion, and macrostomia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060549", 
        "description": "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060549", 
        "name": "Barber-Say syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060549#disease-associations", 
            "id": "0060549", 
            "database": "Alliance of Genome Resources"
        }
    ]
}