{
    "disease_id": "DOID:2717", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "congenital telangiectatic erythema syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "microcephaly, growth restriction, and increased sister chromatid exchange 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "congenital telangiectatic erythema"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "BS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "Bloom syndrome; BLM"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "BLM"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "Bloom-Torre-Machacek syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "BLS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "BSyn"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008876", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008876", 
            "name": "MGRISCE1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2717", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:2717", 
            "name": "Bloom-Torre-Machacek syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2717", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:2717", 
            "name": "Congenital Telangiectatic Erythema syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:2717", 
        "description": "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.", 
        "resource": "Disease Ontology", 
        "id": "DOID:2717", 
        "name": "Bloom syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/210900", 
            "id": "210900", 
            "database": "MIM"
        }
    ]
}