{
    "disease_id": "DOID:0060590", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012590", 
            "name": "XFEPS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012590", 
            "name": "XPF-ERCC1 progeroid syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012590", 
            "name": "XFE progeroid syndrome; XFEPS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060590", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060590", 
            "name": "XFEPS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060590", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060590", 
            "name": "XPF-ERCC1 progeroid syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060590", 
        "description": "A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_ material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060590", 
        "name": "XFE progeroid syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610965", 
            "id": "610965", 
            "database": "MIM"
        }
    ]
}