{
    "disease_id": "DOID:0060590",
    "recommended_name": {
        "id": "DOID:0060590",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060590",
        "name": "XFE progeroid syndrome",
        "description": "A progeroid 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."
    },
    "synonyms": [
        {
            "id": "DOID:0060590",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060590",
            "name": "XFEPS",
            "description": ""
        },
        {
            "id": "DOID:0060590",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060590",
            "name": "XPF-ERCC1 progeroid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012590",
            "name": "XFE progeroid syndrome",
            "description": "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13."
        },
        {
            "id": "MONDO:0012590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012590",
            "name": "XFE progeroid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012590",
            "name": "XFEPS",
            "description": ""
        },
        {
            "id": "MONDO:0012590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012590",
            "name": "XPF-ERCC1 progeroid syndrome",
            "description": ""
        },
        {
            "id": "MIM:610965",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610965",
            "name": "XFE progeroid syndrome",
            "description": "XFE progeroid syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060590"
    ],
    "unlinked_id_list": []
}