{
    "disease_id": "DOID:0060055", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "Bartsocas-Papas syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "lethal popliteal pterygium syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "multiple pterygium syndrome, Aslan type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "pterygium popliteal lethal type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "autosomal recessive popliteal pterygium syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "Bartsocas Papas syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "popliteal pterygium syndrome lethal type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "popliteal pterygium syndrome, Bartsocas-Papas type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "BPS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "pterygium, popliteal, lethal type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009901", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009901", 
            "name": "popliteal pterygium syndrome, lethal type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060055", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060055", 
            "name": "facio-genito-popliteal syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060055", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060055", 
            "name": "popliteal web syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060055", 
        "description": "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060055", 
        "name": "popliteal pterygium syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060055#disease-associations", 
            "id": "0060055", 
            "database": "Alliance of Genome Resources"
        }
    ]
}